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
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0072 a0002c0003t0001g0072	1	234	0.0043	17	c.590 others(34): Show c.5902+806_5902+822dupTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	402	0.0025	17	c.397 others(34): Show c.397+4647_397+4648insATATATATATATTTTTT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03834.hp1 NA18966.hp1 others(1): Show HG02738.hp1 HG03834.hp1 NA18966.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0273 a0001c0001t0002g0274 others(1): Show a0001c0001t0002g0260 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0290	4	402	0.0100	17	c.397 others(34): Show c.397+4647_397+4648insATATATATTTTTTTTTT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP42_chr7_23177048_23206006	23198205	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0206 a0001c0005t0002g0206	1	364	0.0028	17	c.610 others(34): Show c.610-1244_610-1228dupTTTTTTTTTTTTTTTTT	NUP42	ENSG00000136243.18	transcript	ENST00000258742.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP54_chr4_76109664_76153397	76125619	G G	GGAGGGGG others(10): Show GGAGGGGGAGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	370	0.0027	17	c.105 others(34): Show c.1057-864_1057-863insTCCCCCCTCTCCCCCTC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP54_chr4_76109664_76153397	76125637	A A	AGGGGGAG others(10): Show AGGGGGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	370	0.0027	17	c.105 others(34): Show c.1057-898_1057-882dupCTCTCCCCCTCTCCCCC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP54_chr4_76109664_76153397	76125661	A A	AGGGGGAG others(10): Show AGGGGGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	370	0.0027	17	c.105 others(34): Show c.1057-906_1057-905insCTCTCCCCCTCTCCCCC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP58_chr13_25296625_25347421	25305130	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0074 a0001c0005t0001g0074	1	350	0.0029	17	c.108 others(34): Show c.108-2661_108-2645dupTTTTTTTTTTTTTTTTT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP58_chr13_25296625_25347421	25314310	T T	TTTAAGGA others(10): Show TTTAAGGAGTCAGTAAAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20300.hp1 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0151 a0001c0001t0012g0152 a0001c0001t0012g0151 a0001c0001t0012g0152	2	350	0.0057	17	c.574 others(32): Show c.574+561_574+577dupTAAGGAGTCAGTAAACT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP62_chr19_49901825_49934504	49914726	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0205	1	416	0.0024	17	c.-77 others(34): Show c.-77-4859_-77-4843dupAAAAAAAAAAAAAAAAA	NUP62	ENSG00000213024.13	transcript	ENST00000352066.8	protein_coding	2/2			chr19	TogoVar
NUP85_chr17_75200679_75240758	75212247	G G	GTTGTTGT others(10): Show GTTGTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	276	0.0036	17	c.361 others(32): Show c.361+187_361+188insGTTGTTTTTTTTTTTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
NUP88_chr17_5379833_5424662	5400139	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	370	0.0027	17	c.119 others(34): Show c.1193-490_1193-489insTTTTTTTTTTTTTTTTT	NUP88	ENSG00000108559.13	transcript	ENST00000573584.6	protein_coding	7/16			chr17	TogoVar
NUP93_chr16_56725129_56855286	56827069	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG03942.hp2 others(1): Show HG00639.hp1 HG01361.hp2 HG03942.hp2 HG04204.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0023 a0001c0001 a0008c0023	a0001c0001t0003 a0001c0001t0027 a0008c0023t0026 a0001c0001t0003 a0001c0001t0027 a0008c0023t0026	a0001c0001t0003g0348 a0001c0001t0003g0365 a0001c0001t0027g0371 others(1): Show a0001c0001t0003g0348 a0001c0001t0003g0365 a0001c0001t0027g0371 a0008c0023t0026g0372	4	378	0.0106	17	c.795 others(34): Show c.795-1908_795-1907insAAAAAAAAAAAAAAAAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21			chr16	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02818.hp1 others(3): Show HG02486.hp1 HG02615.hp1 HG02818.hp1 NA18965.hp1 NA19003.hp1 NA19058.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0018 others(1): Show a0001c0001 a0001c0002 a0001c0018 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0001c0018t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0018t0002 a0006c0009t0001	a0001c0001t0001g0205 a0001c0002t0001g0019 a0001c0002t0001g0027 others(3): Show a0001c0001t0001g0205 a0001c0002t0001g0019 a0001c0002t0001g0027 a0001c0018t0002g0116 a0006c0009t0001g0034 a0006c0009t0001g0035	6	342	0.0175	17	c.274 others(36): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3724780	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00738.hp2 others(21): Show HG00408.hp2 HG00609.hp2 HG00738.hp2 HG00741.hp1 HG01106.hp2 HG01255.hp1 HG01346.hp1 HG02015.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02647.hp1 HG02970.hp1 HG03486.hp1 NA18943.hp1 NA18954.hp2 NA18961.hp1 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA19009.hp2 NA19065.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0001c0002 a0002c0008 others(1): Show a0001c0001 a0001c0002 a0002c0008 a0017c0026	a0001c0001t0001 a0001c0002t0001 a0002c0008t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0008t0003 a0017c0026t0001	a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 others(21): Show a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0002t0001g0046 a0002c0008t0003g0064 a0017c0026t0001g0001	24	342	0.0702	17	c.184 others(34): Show c.1847+322_1847+323insTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02630.hp1 HG01255.hp1 HG02630.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0036 a0001c0001 a0016c0036	a0001c0001t0001 a0016c0036t0001 a0001c0001t0001 a0016c0036t0001	a0001c0001t0001g0253 a0016c0036t0001g0130 a0001c0001t0001g0253 a0016c0036t0001g0130	2	342	0.0059	17	c.173 others(36): Show c.1730+1659_1730+1675dupTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUSAP1_chr15_41327881_41386046	41336648	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0238	1	292	0.0034	17	c.93+ others(32): Show c.93+3603_93+3619dupTTTTTTTTTTTTTTTTT	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
NUTM2F_chr9_94313198_94333644	94313356	T T	TATATTAT others(10): Show TATATTATATTATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	322	0.0031	17	c.51 others(28): Show c.5108_*5109insTTTATATAATATAATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4841		chr9	TogoVar
NVL_chr1_224222345_224335172	224274059	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0062	1	284	0.0035	17	c.208 others(36): Show c.2082+1279_2082+1280insTGTGTGTGTGTGTGTGT	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	17/22			chr1	TogoVar
NVL_chr1_224222345_224335172	224331533	G G	GTGGAATC others(10): Show GTGGAATCTTCCAGTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	284	0.0035	17	c.-14 others(28): Show c.-1407_-1406insAATACTGGAAGATTCCA	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding		1362		chr1	TogoVar
NWD1_chr19_16714847_16822953	16752526	T T	TGCATGCC others(10): Show TGCATGCCTATAGACCTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01070.hp1 others(71): Show HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0004 a0006 a0007 others(20): Show a0004 a0006 a0007 a0009 a0011 a0012 a0014 a0015 a0020 a0023 a0024 a0026 a0028 a0032 a0033 a0034 a0035 a0038 a0042 a0044 a0046 a0050 a0052	a0004c0005 a0004c0009 a0004c0016 others(28): Show a0004c0005 a0004c0009 a0004c0016 a0006c0013 a0006c0014 a0007c0028 a0007c0029 a0007c0074 a0007c0075 a0009c0010 a0011c0017 a0011c0041 a0012c0019 a0014c0025 a0014c0057 a0015c0018 a0020c0024 a0023c0042 a0024c0044 a0026c0052 a0028c0045 a0032c0071 a0033c0069 a0034c0072 a0035c0062 a0038c0051 a0042c0070 a0044c0055 a0046c0031 a0050c0060 a0052c0054	a0004c0005t0001 a0004c0005t0006 a0004c0005t0018 others(50): Show a0004c0005t0001 a0004c0005t0006 a0004c0005t0018 a0004c0005t0022 a0004c0005t0023 a0004c0005t0029 a0004c0005t0039 a0004c0005t0048 a0004c0009t0005 a0004c0009t0008 a0004c0009t0009 a0004c0009t0013 a0004c0009t0036 a0004c0016t0001 a0004c0016t0002 a0006c0013t0002 a0006c0013t0008 a0006c0013t0009 a0006c0014t0006 a0006c0014t0028 a0006c0014t0041 a0007c0028t0002 a0007c0028t0034 a0007c0029t0002 a0007c0074t0040 a0007c0075t0043 a0009c0010t0002 a0009c0010t0010 a0009c0010t0047 a0011c0017t0008 a0011c0017t0013 a0011c0041t0001 a0012c0019t0008 a0012c0019t0016 a0014c0025t0002 a0014c0057t0025 a0015c0018t0017 a0015c0018t0022 a0020c0024t0001 a0023c0042t0002 a0024c0044t0001 a0026c0052t0042 a0028c0045t0009 a0032c0071t0032 a0033c0069t0006 a0034c0072t0008 a0035c0062t0008 a0038c0051t0018 a0042c0070t0002 a0044c0055t0001 a0046c0031t0009 a0050c0060t0026 a0052c0054t0002	a0004c0005t0001g0296 a0004c0005t0006g0211 a0004c0005t0006g0225 others(71): Show a0004c0005t0001g0296 a0004c0005t0006g0211 a0004c0005t0006g0225 a0004c0005t0006g0226 a0004c0005t0006g0227 a0004c0005t0006g0228 a0004c0005t0006g0229 a0004c0005t0018g0256 a0004c0005t0022g0050 a0004c0005t0023g0094 a0004c0005t0023g0095 a0004c0005t0029g0265 a0004c0005t0039g0084 a0004c0005t0048g0002 a0004c0009t0005g0140 a0004c0009t0005g0224 a0004c0009t0008g0286 a0004c0009t0009g0047 a0004c0009t0009g0052 a0004c0009t0013g0206 a0004c0009t0036g0126 a0004c0016t0001g0212 a0004c0016t0002g0018 a0004c0016t0002g0019 a0004c0016t0002g0038 a0006c0013t0002g0015 a0006c0013t0008g0253 a0006c0013t0009g0014 a0006c0013t0009g0016 a0006c0014t0006g0290 a0006c0014t0006g0293 a0006c0014t0028g0204 a0006c0014t0041g0053 a0007c0028t0002g0115 a0007c0028t0034g0258 a0007c0029t0002g0297 a0007c0029t0002g0298 a0007c0074t0040g0116 a0007c0075t0043g0299 a0009c0010t0002g0114 a0009c0010t0010g0131 a0009c0010t0010g0276 a0009c0010t0010g0278 a0009c0010t0010g0284 a0009c0010t0047g0005 a0011c0017t0008g0194 a0011c0017t0013g0172 a0011c0017t0013g0173 a0011c0041t0001g0161 a0012c0019t0008g0257 a0012c0019t0016g0003 a0012c0019t0016g0004 a0014c0025t0002g0048 a0014c0025t0002g0049 a0014c0057t0025g0118 a0015c0018t0017g0294 a0015c0018t0017g0295 a0015c0018t0022g0124 a0020c0024t0001g0251 a0020c0024t0001g0259 a0023c0042t0002g0036 a0024c0044t0001g0152 a0026c0052t0042g0054 a0028c0045t0009g0023 a0032c0071t0032g0166 a0033c0069t0006g0230 a0034c0072t0008g0264 a0035c0062t0008g0205 a0038c0051t0018g0129 a0042c0070t0002g0300 a0044c0055t0001g0254 a0046c0031t0009g0045 a0050c0060t0026g0202 a0052c0054t0002g0028	74	300	0.2467	17	c.176 others(36): Show c.1769+2117_1769+2118insATGCCTATAGACCTAGC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXNL1_chr19_17450425_17465926	17450794	C C	CTACTTTT others(10): Show CTACTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG02723.hp2 others(7): Show HG02109.hp1 HG02717.hp1 HG02723.hp2 HG02922.hp1 HG02976.hp2 HG03195.hp2 HG03471.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0015 a0004c0004 a0001c0001 a0001c0015 a0004c0004	a0001c0001t0001 a0001c0015t0001 a0004c0004t0001 a0001c0001t0001 a0001c0015t0001 a0004c0004t0001	a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0015t0001g0050 a0004c0004t0001g0013 a0004c0004t0001g0036	10	408	0.0245	17	c.48 others(28): Show c.4852_*4853insAAAAAAAAAAAAAAGTA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		4630		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	408	0.0025	17	c.25 others(28): Show c.2531_*2532insATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	408	0.0025	17	c.25 others(28): Show c.2531_*2532insAAAAAAAAATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01978.hp1 NA18955.hp2 others(7): Show HG00621.hp2 HG01978.hp1 NA18955.hp2 NA18964.hp1 NA18972.hp1 NA18989.hp1 NA18999.hp2 NA19005.hp1 NA19007.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0045	10	408	0.0245	17	c.25 others(28): Show c.2531_*2532insAAAAAAAAAAATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	17	c.25 others(28): Show c.2531_*2532insAAAAAAAAAAAAATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02300.hp2 HG00597.hp2 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0049 a0002c0002t0002g0018 a0001c0001t0001g0049 a0002c0002t0002g0018	2	408	0.0049	17	c.25 others(28): Show c.2531_*2532insAAAAAAAAAAAAAAATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453116	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG03453.hp2 HG02970.hp1 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0011 a0001c0001t0001g0017	3	408	0.0074	17	c.25 others(28): Show c.2530_*2531insTATATATATATATATAT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2308		chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp1 HG02015.hp2 others(12): Show HG01099.hp1 HG01496.hp1 HG02015.hp2 HG02132.hp2 HG02273.hp2 HG03491.hp1 HG03834.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18971.hp1 NA18980.hp2 NA18984.hp1 NA19004.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0049 a0001c0001t0001g0154 a0001c0001t0001g0195 others(12): Show a0001c0001t0001g0049 a0001c0001t0001g0154 a0001c0001t0001g0195 a0001c0001t0002g0035 a0001c0001t0002g0119 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0170 a0001c0001t0002g0212 a0001c0001t0003g0106 a0001c0001t0003g0127 a0001c0001t0003g0153 a0001c0001t0005g0132 a0001c0001t0006g0168 a0001c0001t0014g0113	15	242	0.0620	17	c.361 others(36): Show c.361-13736_361-13720dupTTTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	839797	T T	TTAAAAAA others(10): Show TTAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	242	0.0041	17	c.361 others(36): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	885672	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0241 a0001c0001t0033g0241	1	242	0.0041	17	c.361 others(36): Show c.361-59611_361-59595dupAAAAAAAAAAAAAAAAA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949217	C C	CCCCCTGC others(10): Show CCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	242	0.0041	17	c.360 others(36): Show c.360+30101_360+30102insAGAGGAGGAGGCAGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949502	C C	CCCCGCGC others(10): Show CCCCGCGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	242	0.0041	17	c.360 others(36): Show c.360+29816_360+29817insAGAGGAGGAGGCGCGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949527	G G	GCCTCCTC others(10): Show GCCTCCTCCTCTCCCCGC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	242	0.0041	17	c.360 others(36): Show c.360+29791_360+29792insGCGGGGAGAGGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPE3_chr3_101774211_101833231	101818753	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0128 a0001c0001t0008g0128	1	380	0.0026	17	c.112 others(36): Show c.1129+1753_1129+1754insATATATATATATATTTT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPH1_chr7_8428609_8757961	8461843	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01081.hp1 others(9): Show HG00642.hp1 HG00642.hp2 HG01081.hp1 HG01433.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02602.hp2 NA18939.hp1 NA18944.hp2 NA18972.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0059 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0059 a0001c0001t0001g0103 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0002g0135 a0001c0001t0003g0003 a0001c0001t0004g0062 a0001c0001t0006g0194 a0001c0001t0008g0075 a0001c0001t0011g0002	12	208	0.0577	17	c.54+ others(34): Show c.54+26084_54+26085insAAAAAAAAGAAAAAAAA	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8483965	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG02922.hp2 others(2): Show HG00639.hp2 HG01891.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0165 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0165 a0001c0001t0005g0072 a0001c0001t0005g0142	5	208	0.0240	17	c.54+ others(34): Show c.54+48199_54+48215dupTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8678928	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03139.hp2 NA18960.hp2 HG01081.hp2 HG03139.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0106 a0001c0001t0001g0159 a0001c0001t0005g0164 a0001c0001t0001g0106 a0001c0001t0001g0159 a0001c0001t0005g0164	3	208	0.0144	17	c.55- others(34): Show c.55-72061_55-72045dupTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8756316	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG03540.hp2 others(5): Show HG01109.hp2 HG01123.hp1 HG03540.hp2 NA18961.hp1 NA19043.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0068 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0200 a0001c0001t0003g0033 a0001c0001t0006g0170	8	208	0.0385	17	c.45 others(28): Show c.4547_*4548insTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding		3356		chr7	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02109.hp1 HG01358.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0115 a0001c0002t0001g0257 a0001c0001t0003g0115 a0001c0002t0001g0257	2	350	0.0057	17	c.52- others(34): Show c.52-35446_52-35430dupTTTTTTTTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225512796	C C	CCCCATCT others(10): Show CCCCATCTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	192	0.0052	17	c.222 others(32): Show c.222-575_222-574insCCCATCTTTCTTTTCTT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	3/7			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0173 a0001c0003t0029g0173	1	192	0.0052	17	c.161 others(36): Show c.1618+6481_1618+6482insTATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225704812	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0022 a0001c0001t0014g0022	1	192	0.0052	17	c.62 others(28): Show c.6268_*6269insAAAAAAAAAAAAAAAAA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding		1159		chr2	TogoVar
OAF_chr11_120206032_120235334	120214850	A A	AGCTCCAG others(10): Show AGCTCCAGCTACTGCAGT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0002 a0008c0015t0002	a0008c0015t0002g0099 a0008c0015t0002g0099	1	400	0.0025	17	c.231 others(34): Show c.231+3340_231+3341insGCTCCAGCTACTGCAGT	OAF	ENSG00000184232.9	transcript	ENST00000328965.9	protein_coding	1/3			chr11	TogoVar
OASL_chr12_121014111_121044246	121039548	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	390	0.0026	17	c.-57 others(26): Show c.-578_-577insAAAAAAAAAAAAAAAAA	OASL	ENSG00000135114.14	transcript	ENST00000257570.10	protein_coding		303		chr12	TogoVar
OBP2A_chr9_135541126_135554969	135544761	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	455	0.0022	17	c.-14 others(28): Show c.-1420_-1419insAAAAAAAAAAAAAAAAA	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding		1364		chr9	TogoVar
OBSCN_chr1_228203044_228383876	228331445	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0169 a0169	a0169c0148 a0169c0148	a0169c0148t0001 a0169c0148t0001	a0169c0148t0001g0259 a0169c0148t0001g0259	1	320	0.0031	17	c.185 others(38): Show c.18524-1404_18524-1403insTATATAATATATATATA	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	67/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OCIAD1_chr4_48826088_48866815	48852882	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	342	0.0029	17	c.547 others(32): Show c.547+908_547+924dupTTTTTTTTTTTTTTTTT	OCIAD1	ENSG00000109180.15	transcript	ENST00000264312.12	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ODAD2_chr10_27807168_28004079	27923945	T T	TGAAAGAA others(10): Show TGAAAGAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0292 a0001c0002t0002g0292	1	304	0.0033	17	c.249 others(38): Show c.2495+11064_2495+11065insTTTCTTTCTTTTCTTTC	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27952074	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00621.hp2 others(11): Show HG00140.hp1 HG00438.hp1 HG00621.hp2 HG00639.hp1 HG01081.hp2 HG01109.hp2 HG01361.hp1 HG01361.hp2 HG01993.hp2 HG02735.hp1 NA18943.hp1 NA18969.hp1 NA19006.hp2 NA19063.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0021	a0001c0002 a0002c0003 a0003c0008 others(1): Show a0001c0002 a0002c0003 a0003c0008 a0021c0024	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0003c0008t0002 a0021c0024t0001	a0001c0002t0001g0300 a0001c0002t0002g0238 a0001c0002t0002g0274 others(11): Show a0001c0002t0001g0300 a0001c0002t0002g0238 a0001c0002t0002g0274 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0299 a0002c0003t0001g0154 a0003c0008t0002g0278 a0003c0008t0002g0289 a0003c0008t0002g0293 a0003c0008t0002g0297 a0021c0024t0001g0055	14	304	0.0461	17	c.138 others(36): Show c.1387-7129_1387-7113dupTTTTTTTTTTTTTTTTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	10/19			chr10	TogoVar

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