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
NUP210_chr3_13311235_13425322	13311940	A A	ACACCACC others(14): Show ACACCACCACCACCACCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG03486.hp1 others(1): Show HG02145.hp1 HG03041.hp2 HG03486.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 others(1): Show a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163	4	326	0.0123	21	c.57 others(32): Show c.5740_*5741insGTGGTGGTGGTGGTGGTGGTG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4294		chr3	TogoVar
NUP214_chr9_131120586_131239663	131193629	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp2 HG00741.hp2 HG02145.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0001 a0002c0002t0001 a0001c0007t0001 a0002c0002t0001	a0001c0007t0001g0088 a0002c0002t0001g0158 a0001c0007t0001g0088 a0002c0002t0001g0158	2	234	0.0086	21	c.365 others(40): Show c.3659+1350_3659+1370dupTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131196025	T T	TCCCTCTC others(14): Show TCCCTCTCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	234	0.0043	21	c.372 others(38): Show c.3721+734_3721+735insTCTCCCCCCCCCCCCCCCCCC	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	28/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131206148	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02109.hp2 others(8): Show HG00408.hp1 HG00408.hp2 HG02109.hp2 HG02818.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 NA18968.hp1 NA18969.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0011 a0006c0008	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0003c0011t0001 a0006c0008t0001	a0001c0001t0001g0081 a0001c0001t0001g0170 a0001c0001t0001g0189 others(8): Show a0001c0001t0001g0081 a0001c0001t0001g0170 a0001c0001t0001g0189 a0001c0006t0001g0168 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0164 a0002c0002t0001g0225 a0003c0011t0001g0186 a0006c0008t0001g0022	11	234	0.0470	21	c.559 others(40): Show c.5592+4445_5592+4446insTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	30/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(14): Show ATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0064 a0002c0003t0001g0064	1	234	0.0043	21	c.590 others(38): Show c.5902+800_5902+801insATTTATTTATTTATTTATTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(14): Show ATTTATTTATTTATTTATTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0005 a0015c0024t0005	a0015c0024t0005g0003 a0015c0024t0005g0003	1	234	0.0043	21	c.590 others(38): Show c.5902+800_5902+801insATTTATTTATTTATTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183121915	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp2 others(65): Show HG00140.hp1 HG00408.hp2 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp1 HG01099.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp2 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02630.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19065.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0300 a0001c0001t0001g0310 a0001c0001t0001g0316 a0001c0001t0002g0274 a0001c0001t0002g0282	68	402	0.1692	21	c.-25 others(32): Show c.-2543_-2542insTTATTATTATTATTATTATTA	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding		2527		chr2	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02258.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0115 a0001c0001t0001g0116	2	402	0.0050	21	c.397 others(38): Show c.397+4647_397+4648insATATATATATATATATATTTT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP93_chr16_56725129_56855286	56808456	T T	TATATAGT others(14): Show TATATAGTTATGTAACTATAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18906.hp1 HG02818.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0015 a0001c0004t0015g0017 a0001c0004t0015g0015 a0001c0004t0015g0017	2	378	0.0053	21	c.489 others(38): Show c.489+2830_489+2850dupGTTATGTAACTATAAAATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56815865	A A	ACTGCTGC others(14): Show ACTGCTGCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18943.hp1 HG02451.hp2 NA18943.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0005c0024 a0001c0004 a0005c0024	a0001c0004t0005 a0005c0024t0018 a0001c0004t0005 a0005c0024t0018	a0001c0004t0005g0036 a0005c0024t0018g0010 a0001c0004t0005g0036 a0005c0024t0018g0010	2	378	0.0053	21	c.490 others(38): Show c.490-2786_490-2766dupCTGCTGCTGCTGCTGCTGCTG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56815881	C C	CTGCTGCT others(14): Show CTGCTGCTGCTGCTGCTGCTGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01169.hp2 others(8): Show HG00323.hp1 HG00639.hp1 HG01169.hp2 HG02027.hp1 HG02257.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG03942.hp2 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0027 a0001c0001t0028 others(1): Show a0001c0001t0003 a0001c0001t0027 a0001c0001t0028 a0001c0005t0007	a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 others(8): Show a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0365 a0001c0001t0003g0367 a0001c0001t0003g0375 a0001c0001t0027g0371 a0001c0001t0028g0360 a0001c0005t0007g0183 a0001c0005t0007g0185 a0001c0005t0007g0187	11	378	0.0291	21	c.490 others(38): Show c.490-2766_490-2765insCTGGTGCTGCTGCTGCTGCTG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56815899	G G	GTGCTGCT others(14): Show GTGCTGCTGCTGCTGCTGGTGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01071.hp1 others(31): Show HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01361.hp2 HG01978.hp1 HG01981.hp2 HG02148.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02738.hp2 HG02896.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG04204.hp2 NA18942.hp1 NA18952.hp2 NA18961.hp1 NA18969.hp2 NA18979.hp1 NA18999.hp1 NA19005.hp1 NA19062.hp2 NA19064.hp1 NA20300.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0005 a0007c0013 others(1): Show a0001c0001 a0001c0005 a0007c0013 a0008c0023	a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 others(4): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0001t0034 a0001c0005t0007 a0007c0013t0007 a0008c0023t0026	a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 others(31): Show a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0363 a0001c0001t0003g0364 a0001c0001t0003g0366 a0001c0001t0003g0368 a0001c0001t0003g0369 a0001c0001t0003g0370 a0001c0001t0003g0373 a0001c0001t0003g0374 a0001c0001t0003g0376 a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0340 a0001c0001t0016g0191 a0001c0001t0016g0192 a0001c0001t0016g0193 a0001c0001t0034g0196 a0001c0005t0007g0184 a0001c0005t0007g0186 a0001c0005t0007g0188 a0001c0005t0007g0189 a0001c0005t0007g0197 a0007c0013t0007g0190 a0008c0023t0026g0372	34	378	0.0900	21	c.490 others(38): Show c.490-2754_490-2734dupGCTGCTGGTGCTGCTGCTGCT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56827044	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0340 a0001c0001t0007g0340	1	378	0.0027	21	c.795 others(38): Show c.795-1928_795-1908dupAAAAAAAAAAAAAAAAAAAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56827069	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19062.hp2 NA18979.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0358 a0001c0001t0003g0374 a0001c0001t0003g0358 a0001c0001t0003g0374	2	378	0.0053	21	c.795 others(38): Show c.795-1908_795-1907insAAAAAAAAAAAAAAAAAAAAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21			chr16	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00642.hp2 others(39): Show HG00438.hp2 HG00597.hp2 HG00642.hp2 HG00738.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02572.hp2 HG02615.hp2 HG02895.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 NA18943.hp2 NA18947.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19012.hp1 NA19030.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19088.hp2 NA20805.hp1	a0001 a0010 a0021 others(1): Show a0001 a0010 a0021 a0023	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0010c0014 a0021c0015 a0023c0020	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0010c0014t0001 a0021c0015t0001 a0023c0020t0001	a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0081 others(39): Show a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0244 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0261 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0277 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0289 a0001c0002t0001g0326 a0001c0003t0002g0311 a0010c0014t0001g0284 a0021c0015t0001g0283 a0023c0020t0001g0099	42	342	0.1228	21	c.274 others(40): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3724780	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01167.hp2 HG02056.hp2 others(18): Show HG00423.hp1 HG01167.hp2 HG02056.hp2 HG02080.hp1 HG02630.hp1 HG03669.hp1 HG03704.hp1 NA18612.hp1 NA18942.hp2 NA18947.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18973.hp2 NA18980.hp1 NA19000.hp1 NA19012.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA20805.hp1	a0001 a0010 a0016 others(1): Show a0001 a0010 a0016 a0020	a0001c0001 a0001c0002 a0010c0014 others(2): Show a0001c0001 a0001c0002 a0010c0014 a0016c0036 a0020c0037	a0001c0001t0001 a0001c0002t0001 a0010c0014t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0010c0014t0001 a0016c0036t0001 a0020c0037t0001	a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0002t0001g0079 others(18): Show a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0260 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0279 a0001c0002t0001g0327 a0010c0014t0001g0284 a0016c0036t0001g0130 a0020c0037t0001g0122	21	342	0.0614	21	c.184 others(38): Show c.1847+322_1847+323insTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18973.hp1 HG01192.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0041 a0001c0001t0001g0047	2	342	0.0059	21	c.173 others(40): Show c.1730+1655_1730+1675dupTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3769365	G G	GCGGGGAG others(14): Show GCGGGGAGCTGTGATGGAGCCA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	342	0.0029	21	c.785 others(36): Show c.785-642_785-622dupTGGCTCCATCACAGCTCCCCG	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	7/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535555	C C	CCTTCTTT others(14): Show CCTTCTTTCTTTCTTTCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0079 a0001c0001t0083g0079	1	368	0.0027	21	c.21 others(32): Show c.2127_*2128insAGAAAGAAAGAAAGAAAGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2463		chr16	TogoVar
NUTM2E_chr10_79821739_79855878	79826383	G G	GGGCGGCG others(14): Show GGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00735.hp1 others(12): Show HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01123.hp2 HG01433.hp1 HG02074.hp2 HG02109.hp1 HG02630.hp1 HG03209.hp1 HG03927.hp1 NA18972.hp1 NA19001.hp2 NA19043.hp2 NA19076.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0022 a0036 a0041	a0001c0001 a0003c0004 a0003c0007 others(5): Show a0001c0001 a0003c0004 a0003c0007 a0005c0008 a0005c0013 a0022c0061 a0036c0069 a0041c0063	a0001c0001t0008 a0003c0004t0002 a0003c0007t0002 others(6): Show a0001c0001t0008 a0003c0004t0002 a0003c0007t0002 a0005c0008t0002 a0005c0013t0002 a0005c0013t0038 a0022c0061t0002 a0036c0069t0002 a0041c0063t0002	a0001c0001t0008g0063 a0003c0004t0002g0114 a0003c0004t0002g0120 others(11): Show a0001c0001t0008g0063 a0003c0004t0002g0114 a0003c0004t0002g0120 a0003c0007t0002g0071 a0003c0007t0002g0082 a0005c0008t0002g0011 a0005c0008t0002g0117 a0005c0008t0002g0131 a0005c0013t0002g0044 a0005c0013t0002g0069 a0005c0013t0038g0127 a0022c0061t0002g0004 a0036c0069t0002g0067 a0041c0063t0002g0121	15	412	0.0364	21	c.-37 others(32): Show c.-3702_-3701insGGCGGCGGCGGCGGCGGCGGC	NUTM2E	ENSG00000228570.8	transcript	ENST00000429984.5	protein_coding		355		chr10	TogoVar
NUTM2G_chr9_96923843_96944416	96930872	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0157 a0003c0003t0001g0157	1	374	0.0027	21	c.17- others(34): Show c.17-830_17-810dupTTTTTTTTTTTTTTTTTTTTT	NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
NVL_chr1_224222345_224335172	224254093	A A	AGTAGGCA others(14): Show AGTAGGCAATTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0099 a0002c0004t0001g0099	1	284	0.0035	21	c.218 others(40): Show c.2183-3776_2183-3775insAAAAAAAAAAGAATTGCCTAC	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	18/22			chr1	TogoVar
NVL_chr1_224222345_224335172	224276911	T T	TTGACACA others(14): Show TTGACACATAAAACTAGTTTTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp1 HG02630.hp1 others(10): Show HG01081.hp1 HG01168.hp1 HG02630.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03490.hp2 NA18522.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp1 NA19007.hp2 NA19058.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0008 a0001c0001 a0001c0002 a0006c0008	a0001c0001t0001 a0001c0002t0002 a0006c0008t0001 a0001c0001t0001 a0001c0002t0002 a0006c0008t0001	a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0121 others(10): Show a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0214 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0252 a0001c0002t0002g0263 a0001c0002t0002g0270 a0006c0008t0001g0079	13	284	0.0458	21	c.196 others(40): Show c.1963-1474_1963-1454dupTAAAACTAGTTTTATGTGTCA	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	16/22			chr1	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	408	0.0025	21	c.48 others(32): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAAAA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		4627		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453091	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	408	0.0025	21	c.25 others(32): Show c.2555_*2556insATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2333		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0033 a0003c0003t0003g0033	1	408	0.0025	21	c.25 others(32): Show c.2531_*2532insATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	408	0.0025	21	c.25 others(32): Show c.2531_*2532insAAATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	408	0.0025	21	c.25 others(32): Show c.2531_*2532insAAAAAAAAATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 NA19067.hp1 HG02165.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	408	0.0049	21	c.25 others(32): Show c.2531_*2532insAAAAAAAAAAAAATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 NA19058.hp2 HG03579.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0001 a0002c0002t0002 a0001c0006t0001 a0002c0002t0002	a0001c0006t0001g0034 a0002c0002t0002g0081 a0001c0006t0001g0034 a0002c0002t0002g0081	2	408	0.0049	21	c.25 others(32): Show c.2531_*2532insAAAAAAAAAAAAAAATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453116	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02976.hp1 others(1): Show HG02145.hp2 HG02257.hp2 HG02976.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028	4	408	0.0098	21	c.25 others(32): Show c.2530_*2531insTATATATATATATATATATAT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2308		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463795	A A	AAGGAGAA others(14): Show AAGGAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	21	c.-29 others(32): Show c.-2927_-2926insCCTTCTCCTTCTCCTTCTCCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2870		chr19	TogoVar
NXN_chr17_794310_984776	836963	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18980.hp1 HG04184.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0213 a0001c0001t0008g0192 a0001c0001t0002g0213 a0001c0001t0008g0192	2	242	0.0083	21	c.361 others(40): Show c.361-10906_361-10886dupATAATAATAATAATAATAATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19000.hp2 HG02258.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0007 a0001c0001t0006g0123 a0001c0001t0005g0007 a0001c0001t0006g0123	2	242	0.0083	21	c.361 others(40): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	843056	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0011 a0001c0001t0024g0011	1	242	0.0041	21	c.361 others(40): Show c.361-16979_361-16978insTCTTTCTTTCTTTCTTTCTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949558	T T	TCCCCCCC others(14): Show TCCCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	242	0.0041	21	c.360 others(40): Show c.360+29760_360+29761insGAGAGGAGGAGGCAGGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPH1_chr7_8428609_8757961	8621490	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp1 HG03490.hp1 others(10): Show HG02015.hp1 HG02040.hp1 HG03490.hp1 HG03669.hp2 NA18612.hp1 NA18950.hp1 NA18960.hp1 NA18971.hp2 NA18972.hp2 NA18994.hp2 NA19004.hp2 NA19060.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0038 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0152 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0004g0074 a0001c0001t0007g0001 a0001c0001t0007g0039	13	208	0.0625	21	c.55- others(40): Show c.55-129504_55-129503insTTTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH2_chr2_138664157_138785390	138668090	A A	AGGATTTA others(14): Show AGGATTTAACCTGACTTACTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0009 a0001c0003t0002 a0001c0004t0003 a0001c0005t0013 a0002c0006t0003	a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0166 others(337): Show a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0166 a0001c0001t0001g0250 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0117 a0001c0001t0002g0124 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0280 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0003g0008 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0052 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0094 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0149 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0168 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0189 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0203 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0243 a0001c0001t0003g0254 a0001c0001t0003g0268 a0001c0001t0003g0274 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0293 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0308 a0001c0001t0003g0313 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0323 a0001c0001t0003g0328 a0001c0001t0003g0330 a0001c0001t0003g0332 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0004g0073 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0106 a0001c0001t0004g0152 a0001c0001t0004g0160 a0001c0001t0004g0181 a0001c0001t0004g0193 a0001c0001t0004g0200 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0212 a0001c0001t0004g0225 a0001c0001t0004g0292 a0001c0001t0005g0059 a0001c0001t0005g0214 a0001c0001t0005g0294 a0001c0001t0005g0301 a0001c0001t0005g0311 a0001c0001t0005g0339 a0001c0001t0006g0002 a0001c0001t0006g0030 a0001c0001t0006g0033 a0001c0001t0007g0259 a0001c0001t0007g0326 a0001c0001t0008g0009 a0001c0001t0010g0232 a0001c0001t0011g0072 a0001c0001t0012g0217 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0024 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0163 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0206 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0215 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0231 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0257 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0283 a0001c0002t0001g0288 a0001c0002t0001g0291 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0337 a0001c0002t0009g0045 a0001c0003t0002g0315 a0001c0003t0002g0319 a0001c0004t0003g0209 a0001c0004t0003g0314 a0001c0005t0013g0264 a0002c0006t0003g0119	348	350	0.9943	21	c.28 others(32): Show c.2831_*2832insAAAGTAAGTCAGGTTAAATCC	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding		1066		chr2	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp2 others(52): Show HG00099.hp2 HG00140.hp2 HG00438.hp2 HG00544.hp1 HG01069.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02683.hp1 HG02683.hp2 HG03239.hp1 HG03491.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04204.hp2 NA18939.hp2 NA18953.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18998.hp1 NA19009.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001	a0001c0001t0003g0123 a0001c0001t0003g0161 a0001c0001t0006g0030 others(52): Show a0001c0001t0003g0123 a0001c0001t0003g0161 a0001c0001t0006g0030 a0001c0001t0006g0033 a0001c0002t0001g0019 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0001g0051 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0084 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0122 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0187 a0001c0002t0001g0210 a0001c0002t0001g0215 a0001c0002t0001g0223 a0001c0002t0001g0237 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0263 a0001c0002t0001g0270 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0283 a0001c0002t0001g0295 a0001c0002t0001g0337	55	350	0.1571	21	c.52- others(38): Show c.52-35430_52-35429insTTTTTTTTTTTTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NXPH4_chr12_57211794_57231449	57229183	A A	ATGTTCAC others(14): Show ATGTTCACAGGAAAAGCCTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	21	c.34 others(32): Show c.3436_*3437insTGTTCACAGGAAAAGCCTCAT	NXPH4	ENSG00000182379.10	transcript	ENST00000349394.6	protein_coding		2735		chr12	TogoVar
NYAP2_chr2_225394710_225708654	225589520	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	192	0.0052	21	c.161 others(40): Show c.1618+6486_1618+6506dupATATATATATATATATATATA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OBSCN_chr1_228203044_228383876	228258383	G G	GCAACAAC others(14): Show GCAACAACAACAACAACAACAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03041.hp2 HG03225.hp2 HG01109.hp2 HG03041.hp2 HG03225.hp2	a0035 a0060 a0035 a0060	a0035c0024 a0060c0071 a0035c0024 a0060c0071	a0035c0024t0003 a0060c0071t0003 a0035c0024t0003 a0060c0071t0003	a0035c0024t0003g0284 a0035c0024t0003g0285 a0060c0071t0003g0311 a0035c0024t0003g0284 a0035c0024t0003g0285 a0060c0071t0003g0311	3	320	0.0094	21	c.486 others(40): Show c.4862-1117_4862-1097dupCAACAACAACAACAACAACAA	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	16/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OCA2_chr15_27749875_28104315	27896507	T T	TGCTCAAA others(14): Show TGCTCAAAAGAAAGATTGAGTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0101 a0001c0028t0001g0101	1	110	0.0091	21	c.208 others(42): Show c.2080-24606_2080-24586dupTACTCAATCTTTCTTTTGAGC	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	19/23			chr15	TogoVar
ODAD2_chr10_27807168_28004079	27885769	T T	TATTTTAT others(14): Show TATTTTATATATTTTATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0002 a0014c0018t0002	a0014c0018t0002g0004 a0014c0018t0002g0004	1	304	0.0033	21	c.261 others(42): Show c.2610+21893_2610+21894insTATATATAAAATATATAAAAT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	17/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27952074	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03492.hp1 HG03486.hp1 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0019 a0001c0002 a0003c0019	a0001c0002t0002 a0003c0019t0002 a0001c0002t0002 a0003c0019t0002	a0001c0002t0002g0303 a0003c0019t0002g0190 a0001c0002t0002g0303 a0003c0019t0002g0190	2	304	0.0066	21	c.138 others(40): Show c.1387-7113_1387-7112insTTTTTTTTTTTTTTTTTTTTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	10/19			chr10	TogoVar
ODAD4_chr17_41925617_41971503	41930881	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	340	0.0029	21	c.114 others(34): Show c.114+53_114+73dupTTTTTTTTTTTTTTTTTTTTT	ODAD4	ENSG00000204815.10	transcript	ENST00000377540.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ODAM_chr4_70190725_70209576	70204604	C C	CATCTTAG others(14): Show CATCTTAGTCATTTCCTAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	446	0.0022	21	c.45 others(30): Show c.459_*460insATCTTAGTCATTTCCTAGAGA	ODAM	ENSG00000109205.17	transcript	ENST00000683306.1	protein_coding		29		chr4	TogoVar
ODF2_chr9_128451006_128506292	128470014	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	346	0.0029	21	c.669 others(36): Show c.669+661_669+662insTATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128470016	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02738.hp2 HG00673.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0288 a0001c0001t0002g0088 a0001c0001t0001g0288 a0001c0001t0002g0088	2	346	0.0058	21	c.669 others(36): Show c.669+663_669+664insTATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	346	0.0029	21	c.669 others(36): Show c.669+666_669+667insAAAAAAAAATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar

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