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
NPC1_chr18_23526442_23591506	23550479	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	378	0.0027	21	c.165 others(40): Show c.1654+1147_1654+1148insAAAAAAAAAAAAAAAAAAAAA	NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24			chr18	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG02080.hp1 others(1): Show HG00438.hp2 HG00642.hp1 HG02080.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0213 others(1): Show a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0213 a0001c0001t0009g0094	4	342	0.0117	21	c.255 others(38): Show c.255+6650_255+6670dupTTTTTTTTTTTTTTTTTTTTT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NPFFR1_chr10_70242329_70289004	70272188	G G	GAGGAAAG others(14): Show GAGGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03942.hp2 NA18995.hp2 HG02602.hp1 HG03942.hp2 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0023 a0002c0003t0106 a0002c0004t0105 a0001c0001t0023 a0002c0003t0106 a0002c0004t0105	a0001c0001t0023g0258 a0002c0003t0106g0259 a0002c0004t0105g0255 a0001c0001t0023g0258 a0002c0003t0106g0259 a0002c0004t0105g0255	3	368	0.0082	21	c.8-5 others(34): Show c.8-5818_8-5798dupTTCTTTCTTTCTTTCTTTCCT	NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3			chr10	TogoVar
NPFFR1_chr10_70242329_70289004	70272244	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(69): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01358.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03239.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18962.hp2 NA18981.hp2 NA19003.hp2 NA19007.hp1 NA19043.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19084.hp1 NA19084.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0001c0014 a0002c0003 a0002c0004 a0002c0012 a0004c0008 a0005c0018 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0045 a0001c0001t0049 a0001c0001t0052 a0001c0001t0066 a0001c0001t0115 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0029 a0001c0002t0043 a0001c0002t0044 a0001c0002t0048 a0001c0002t0051 a0001c0002t0076 a0001c0002t0125 a0001c0005t0001 a0001c0005t0017 a0001c0005t0041 a0001c0010t0002 a0001c0014t0010 a0002c0003t0003 a0002c0003t0094 a0002c0004t0005 a0002c0004t0074 a0002c0012t0026 a0004c0008t0014 a0005c0018t0005 a0006c0011t0046	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(60): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0002g0295 a0001c0001t0002g0317 a0001c0001t0007g0120 a0001c0001t0009g0145 a0001c0001t0009g0170 a0001c0001t0013g0194 a0001c0001t0015g0075 a0001c0001t0018g0098 a0001c0001t0021g0167 a0001c0001t0024g0330 a0001c0001t0025g0091 a0001c0001t0025g0150 a0001c0001t0030g0177 a0001c0001t0033g0081 a0001c0001t0034g0195 a0001c0001t0045g0147 a0001c0001t0049g0300 a0001c0001t0052g0024 a0001c0001t0066g0135 a0001c0001t0115g0326 a0001c0002t0008g0299 a0001c0002t0010g0122 a0001c0002t0011g0085 a0001c0002t0011g0123 a0001c0002t0012g0297 a0001c0002t0029g0242 a0001c0002t0043g0241 a0001c0002t0044g0132 a0001c0002t0044g0151 a0001c0002t0048g0296 a0001c0002t0051g0298 a0001c0002t0076g0244 a0001c0002t0125g0268 a0001c0005t0001g0003 a0001c0005t0001g0035 a0001c0005t0001g0043 a0001c0005t0017g0045 a0001c0005t0041g0042 a0001c0010t0002g0294 a0001c0014t0010g0086 a0002c0003t0003g0131 a0002c0003t0003g0208 a0002c0003t0003g0240 a0002c0003t0094g0158 a0002c0004t0005g0184 a0002c0004t0074g0193 a0002c0012t0026g0169 a0004c0008t0014g0245 a0005c0018t0005g0232 a0006c0011t0046g0211	72	368	0.1957	21	c.8-5 others(34): Show c.8-5854_8-5853insTCTTTCTTTCTTTCTTTCTTT	NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3			chr10	TogoVar
NPHP1_chr2_110118348_110210013	110158746	A A	AGTGGTTT others(14): Show AGTGGTTTTTGATACTTCTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show HG03239.hp2 NA18992.hp2 NA19000.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050	4	322	0.0124	21	c.108 others(40): Show c.1083+1360_1083+1380dupAAAAGAAGTATCAAAAACCAC	NPHP1	ENSG00000144061.14	transcript	ENST00000445609.7	protein_coding	11/19			chr2	TogoVar
NPHP4_chr1_5857811_5997425	5964937	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	208	0.0048	21	c.517 others(38): Show c.517+2361_517+2362insAAAAAAAAAAAAAAAAAAAAA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5974535	T T	TGAATGAT others(14): Show TGAATGATTCGCTGGCTCAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	208	0.0048	21	c.279 others(38): Show c.279+3714_279+3734dupCTCTGAGCCAGCGAATCATTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPIPA5_chr16_15358628_15383294	15370450	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0209 a0003c0003t0003g0209	1	430	0.0023	21	c.193 others(36): Show c.193-332_193-331insGTGTGTGTGTGTGTGTGTGTG	NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	2/7			chr16	TogoVar
NPIPA7_chr16_16374140_16398972	16388049	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0104 a0014c0013t0001g0104	1	132	0.0076	21	c.437 others(36): Show c.437+244_437+245insTTTTTTTTTTTTTTTTTTTTT	NPIPA7	ENSG00000214967.6	transcript	ENST00000530217.3	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21855115	C C	CAGTTCCC others(14): Show CAGTTCCCCACTCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0078 a0078	a0078c0100 a0078c0100	a0078c0100t0001 a0078c0100t0001	a0078c0100t0001g0096 a0078c0100t0001g0096	1	204	0.0049	21	c.120 others(38): Show c.120+2123_120+2143dupAGAGGAGGAGAGTGGGGAACT	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	2/7			chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28646202	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0039 a0039	a0039c0030 a0039c0030	a0039c0030t0002 a0039c0030t0002	a0039c0030t0002g0292 a0039c0030t0002g0292	1	351	0.0029	21	c.121 others(38): Show c.121-1927_121-1907dupTTTTTTTTTTTTTTTTTTTTT	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28662527	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02300.hp2 HG02148.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0158 a0002c0002t0002g0162 a0002c0002t0002g0158 a0002c0002t0002g0162	2	351	0.0057	21	c.38 others(32): Show c.3897_*3898insGTGTGTGTGTGTGTGTGTGTG	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding		3784		chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28662566	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	351	0.0029	21	c.39 others(32): Show c.3936_*3937insGTGTGTGTGTGTGTGTGTGTG	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding		3823		chr16	TogoVar
NPLOC4_chr17_81551887_81642112	81585170	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18522.hp1 HG02723.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0032 a0001c0001t0022 a0001c0001t0032	a0001c0001t0022g0251 a0001c0001t0032g0248 a0001c0001t0022g0251 a0001c0001t0032g0248	2	344	0.0058	21	c.128 others(40): Show c.1281+3753_1281+3773dupTTTTTTTTTTTTTTTTTTTTT	NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	12/16			chr17	TogoVar
NPLOC4_chr17_81551887_81642112	81631437	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0019 a0001c0021t0001g0019	1	344	0.0029	21	c.16- others(36): Show c.16-1633_16-1632insTATATATATATATATATATAT	NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	1/16			chr17	TogoVar
NPRL3_chr16_80386_143673	103296	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	350	0.0029	21	c.630 others(38): Show c.630-2808_630-2788dupAAAAAAAAAAAAAAAAAAAAA	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	7/13			chr16	TogoVar
NPSR1_chr7_34653218_34854978	34790945	C C	CATATATG others(14): Show CATATATGTTATATGTTATATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01978.hp2 HG01074.hp1 HG01978.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0191 a0005c0004t0003g0199 a0005c0004t0003g0191 a0005c0004t0003g0199	2	260	0.0077	21	c.384 others(40): Show c.384+12422_384+12442dupTATATATGTTATATGTTATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34823399	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18971.hp1 NA19072.hp1 HG03688.hp2 NA18971.hp1 NA19072.hp1	a0003 a0006 a0016 a0003 a0006 a0016	a0003c0010 a0006c0006 a0016c0029 a0003c0010 a0006c0006 a0016c0029	a0003c0010t0004 a0006c0006t0001 a0016c0029t0001 a0003c0010t0004 a0006c0006t0001 a0016c0029t0001	a0003c0010t0004g0049 a0006c0006t0001g0087 a0016c0029t0001g0070 a0003c0010t0004g0049 a0006c0006t0001g0087 a0016c0029t0001g0070	3	260	0.0115	21	c.479 others(38): Show c.479-3985_479-3984insAAAAAAAAAAAAAAAAAAAAA	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPTN_chr15_73555014_73638389	73559971	C C	CCTAAAAT others(14): Show CCTAAAATTAAAGAAGATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	342	0.0029	21	c.10 others(32): Show c.1071_*1091dupTAATATCTTCTTTAATTTTAG	NPTN	ENSG00000156642.17	transcript	ENST00000345330.9	protein_coding		42		chr15	TogoVar
NPTXR_chr22_38813452_38849028	38818309	G G	GGGCATAT others(14): Show GGGCATATTTAGGAGCGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03516.hp1 NA19240.hp2 HG03453.hp2 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0081 a0001c0001t0006g0088 a0001c0001t0006g0025 a0001c0001t0006g0081 a0001c0001t0006g0088	3	354	0.0085	21	c.42 others(32): Show c.4299_*4300insACACACGCTCCTAAATATGCC	NPTXR	ENSG00000221890.6	transcript	ENST00000333039.4	protein_coding		142		chr22	TogoVar
NPVF_chr7_25219570_25233486	25223302	G G	GGCTAAAT others(14): Show GGCTAAATACTTTAGCAGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0043 a0001c0004t0002g0043	1	450	0.0022	21	c.18 others(32): Show c.1819_*1820insATCTCTGCTAAAGTATTTAGC	NPVF	ENSG00000105954.2	transcript	ENST00000222674.2	protein_coding		1267		chr7	TogoVar
NPY1R_chr4_163318962_163337596	163323826	G G	GATGGTTA others(14): Show GATGGTTATACCACAGCCATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02647.hp1 others(7): Show HG01109.hp2 HG02258.hp1 HG02647.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03516.hp1 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0065 a0001c0001t0006g0007 a0001c0001t0006g0065	10	418	0.0239	21	c.14 others(32): Show c.1476_*1477insTGATGGCTGTGGTATAACCAT	NPY1R	ENSG00000164128.7	transcript	ENST00000296533.3	protein_coding		135		chr4	TogoVar
NPY4R2_chr10_47913662_47928524	47918375	G G	GAAGAGAG others(14): Show GAAGAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	276	0.0036	21	c.-78 others(30): Show c.-783_-782insAAGAGAGAAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		286		chr10	TogoVar
NPY4R2_chr10_47913662_47928524	47918383	G G	GAAGAAAG others(14): Show GAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	276	0.0036	21	c.-77 others(30): Show c.-775_-774insAAGAAAGAAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		278		chr10	TogoVar
NPY4R2_chr10_47913662_47928524	47918433	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0002 a0013c0021t0002	a0013c0021t0002g0002 a0013c0021t0002g0002	1	276	0.0036	21	c.-72 others(30): Show c.-725_-724insAAAGAAAGAAAGAAAGAAAGA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		228		chr10	TogoVar
NPY_chr7_24279190_24296862	24290775	A A	AATAATAA others(14): Show AATAATAATAATAATTATTATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01256.hp1 others(1): Show HG00735.hp1 HG01106.hp1 HG01256.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0137 others(1): Show a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0137 a0001c0002t0001g0143	4	476	0.0084	21	c.270 others(36): Show c.270-886_270-885insAATAATAATAATTATTATTAT	NPY	ENSG00000122585.8	transcript	ENST00000242152.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPY_chr7_24279190_24296862	24290775	A A	AATAATAA others(14): Show AATAATAATAATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp2 HG01099.hp1 others(20): Show HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01943.hp1 HG01981.hp2 HG02273.hp1 HG02683.hp2 HG03017.hp1 HG03490.hp1 HG03540.hp1 HG03704.hp1 HG04115.hp2 HG04199.hp2 NA18957.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0036 a0001c0002t0001g0037 others(6): Show a0001c0002t0001g0011 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0123 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141	23	476	0.0483	21	c.270 others(36): Show c.270-886_270-885insAATAATAATTATTATTATTAT	NPY	ENSG00000122585.8	transcript	ENST00000242152.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPY_chr7_24279190_24296862	24290775	A A	AATAATAA others(14): Show AATAATAATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(42): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00738.hp1 HG01071.hp2 HG01106.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG03017.hp2 HG03139.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18971.hp2 NA18974.hp1 NA18991.hp1 NA19000.hp2 NA19004.hp2 NA19066.hp1 NA19075.hp2 NA19087.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0005c0008 a0001c0002 a0001c0003 a0005c0008	a0001c0002t0001 a0001c0003t0001 a0005c0008t0001 a0001c0002t0001 a0001c0003t0001 a0005c0008t0001	a0001c0002t0001g0004 a0001c0002t0001g0029 a0001c0002t0001g0030 others(11): Show a0001c0002t0001g0004 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0107 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0003t0001g0032 a0001c0003t0001g0132 a0005c0008t0001g0030	45	476	0.0945	21	c.270 others(36): Show c.270-886_270-885insAATAATTATTATTATTATTAT	NPY	ENSG00000122585.8	transcript	ENST00000242152.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPY_chr7_24279190_24296862	24290775	A A	AATAATTA others(14): Show AATAATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(29): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00738.hp2 HG01261.hp2 HG01934.hp1 HG01978.hp2 HG02109.hp1 HG02155.hp2 HG02300.hp2 HG02602.hp2 HG03139.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18940.hp2 NA18963.hp1 NA18977.hp2 NA18980.hp1 NA18990.hp2 NA19001.hp2 NA19006.hp1 NA19007.hp1 NA19054.hp2 NA19058.hp2 NA19066.hp2 NA19081.hp2 NA19086.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001	a0001c0002t0001g0007 a0001c0002t0001g0052 a0001c0002t0001g0062 others(9): Show a0001c0002t0001g0007 a0001c0002t0001g0052 a0001c0002t0001g0062 a0001c0002t0001g0121 a0001c0002t0001g0125 a0001c0002t0001g0135 a0001c0002t0001g0149 a0001c0002t0004g0007 a0001c0003t0001g0027 a0001c0003t0001g0058 a0001c0003t0001g0134 a0001c0003t0001g0140	32	476	0.0672	21	c.270 others(36): Show c.270-886_270-885insAATTATTATTATTATTATTAT	NPY	ENSG00000122585.8	transcript	ENST00000242152.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPY_chr7_24279190_24296862	24290775	A A	AATTATTA others(14): Show AATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00558.hp2 others(11): Show HG00280.hp1 HG00323.hp1 HG00558.hp2 HG01109.hp2 HG02080.hp2 HG02523.hp1 HG02809.hp1 HG02922.hp2 NA18906.hp1 NA18945.hp2 NA18970.hp2 NA18982.hp2 NA18997.hp1 NA19078.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0007 a0001c0002 a0001c0003 a0003c0007	a0001c0002t0001 a0001c0003t0001 a0003c0007t0001 a0001c0002t0001 a0001c0003t0001 a0003c0007t0001	a0001c0002t0001g0012 a0001c0002t0001g0050 a0001c0002t0001g0109 others(3): Show a0001c0002t0001g0012 a0001c0002t0001g0050 a0001c0002t0001g0109 a0001c0003t0001g0057 a0001c0003t0001g0130 a0003c0007t0001g0050	14	476	0.0294	21	c.270 others(36): Show c.270-873_270-872insATTATTATTATTATTATTATT	NPY	ENSG00000122585.8	transcript	ENST00000242152.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NR0B1_chrX_30299206_30314390	30310777	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	322	0.0031	21	c.-14 others(32): Show c.-1415_-1414insAGGAAGGAAGGAAGGAAGGAA	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		1388		chrX	TogoVar
NR1D2_chr3_23940286_23985617	23974088	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0311 a0001c0002t0035g0311	1	380	0.0026	21	c.154 others(40): Show c.1544-3129_1544-3109dupTTTTTTTTTTTTTTTTTTTTT	NR1D2	ENSG00000174738.13	transcript	ENST00000312521.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NR2C1_chr12_95015229_95078618	95019484	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG02895.hp1 HG01258.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0036 a0001c0001t0016g0361 a0001c0001t0001g0036 a0001c0001t0016g0361	2	430	0.0047	21	c.27 others(32): Show c.2744_*2745insAAAAAAAAAAAAAAAAAAAAA	NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding		744		chr12	TogoVar
NR2C1_chr12_95015229_95078618	95043689	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02074.hp1 HG02280.hp2 HG02015.hp2 HG02074.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0003g0391 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0003g0391	3	430	0.0070	21	c.113 others(40): Show c.1132-3093_1132-3092insTTTTTTTTTTTTTTTTTTTTT	NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding	9/13			chr12	TogoVar
NR3C2_chr4_148073764_148447414	148134643	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19057.hp2 HG00558.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0119 a0001c0001t0004g0117 a0001c0001t0003g0119 a0001c0001t0004g0117	2	170	0.0118	21	c.251 others(42): Show c.2511-14376_2511-14356dupAAAAAAAAAAAAAAAAAAAAA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	6/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148363504	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18906.hp2 HG02735.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0069 a0002c0002t0001g0064 a0001c0001t0002g0069 a0002c0002t0001g0064	2	170	0.0118	21	c.175 others(42): Show c.1757+71599_1757+71600insAAAAAAAAAAAAAAAAAAAAA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR4A1_chr12_52046442_52064503	52053568	A A	ACCGATGA others(14): Show ACCGATGAGGAGGCCTAGGTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG01069.hp1 others(72): Show HG00438.hp1 HG00738.hp1 HG01069.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG01433.hp2 HG01884.hp1 HG02040.hp2 HG02109.hp1 HG02135.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03834.hp1 HG06807.hp2 NA18948.hp2 NA18950.hp1 NA18957.hp1 NA18959.hp2 NA18963.hp1 NA18969.hp2 NA18977.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18992.hp1 NA18997.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19066.hp2 NA19081.hp1 NA19082.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0010c0011	a0001c0002t0002 a0001c0002t0003 a0001c0004t0002 others(5): Show a0001c0002t0002 a0001c0002t0003 a0001c0004t0002 a0001c0004t0005 a0001c0005t0001 a0001c0005t0003 a0002c0003t0002 a0010c0011t0002	a0001c0002t0002g0005 a0001c0002t0002g0037 a0001c0002t0002g0038 others(34): Show a0001c0002t0002g0005 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0085 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0003g0024 a0001c0002t0003g0079 a0001c0002t0003g0083 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0093 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0002g0034 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0004t0005g0035 a0001c0004t0005g0036 a0001c0004t0005g0074 a0001c0005t0001g0084 a0001c0005t0003g0023 a0001c0005t0003g0076 a0001c0005t0003g0091 a0002c0003t0002g0088 a0010c0011t0002g0005	75	422	0.1777	21	c.-2- others(34): Show c.-2-756_-2-736dupGATGAGGAGGCCTAGGTTCCC	NR4A1	ENSG00000123358.20	transcript	ENST00000394825.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
NR4A3_chr9_99816885_99871891	99862582	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	278	0.0036	21	c.163 others(40): Show c.1634-1037_1634-1036insAAAAAAAAAAAAAAAAAAAGA	NR4A3	ENSG00000119508.18	transcript	ENST00000395097.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NR5A1_chr9_124476236_124512399	124504051	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19030.hp1 HG02647.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0086 a0002c0002t0002g0056 a0002c0002t0001g0086 a0002c0002t0002g0056	2	356	0.0056	21	c.-15 others(36): Show c.-15-642_-15-641insCTCTCTCTCTCTCTCTCTCTC	NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding	1/6			chr9	TogoVar
NR5A2_chr1_200022710_200182415	200032774	G G	GAGGTCAA others(14): Show GAGGTCAAGCAATTTACTCAGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	286	0.0035	21	c.64+ others(36): Show c.64+4864_64+4884dupAGGTCAAGCAATTTACTCAGC	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NR5A2_chr1_200022710_200182415	200062227	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	286	0.0035	21	c.111 others(42): Show c.1110+13409_1110+13410insGTGTGTGTGTGTGTGTGTGTG	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7			chr1	TogoVar
NR5A2_chr1_200022710_200182415	200074736	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG02148.hp2 others(3): Show HG00639.hp1 HG01099.hp1 HG02148.hp2 HG02895.hp1 NA19066.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0003 a0001c0001t0005 a0001c0003t0002 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0003t0002 a0001c0005t0007 a0001c0007t0015	a0001c0001t0003g0235 a0001c0001t0005g0031 a0001c0001t0005g0032 others(3): Show a0001c0001t0003g0235 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0003t0002g0102 a0001c0005t0007g0281 a0001c0007t0015g0278	6	286	0.0210	21	c.111 others(42): Show c.1110+25938_1110+25939insAAAAAAAAAAAAAAAAAAAAA	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NR5A2_chr1_200022710_200182415	200074755	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0092 a0001c0001t0010g0092	1	286	0.0035	21	c.111 others(42): Show c.1110+25938_1110+25939insAAAAAAAAAAAAAAAAAAACA	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NR5A2_chr1_200022710_200182415	200127695	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	286	0.0035	21	c.137 others(40): Show c.1378+6740_1378+6741insTATATATATATATATATATAT	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	7/7			chr1	TogoVar
NR5A2_chr1_200022710_200182415	200127697	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0168 a0001c0001t0002g0169	2	286	0.0070	21	c.137 others(40): Show c.1378+6742_1378+6743insTATATATATATATATATATAT	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	7/7			chr1	TogoVar
NR5A2_chr1_200022710_200182415	200127701	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	286	0.0035	21	c.137 others(40): Show c.1378+6746_1378+6747insTATATATATATATATATATAT	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	7/7			chr1	TogoVar
NR6A1_chr9_124512275_124776311	124668332	T T	TGGCAGAA others(14): Show TGGCAGAAGAGGTGGAAGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02647.hp2 others(7): Show HG02145.hp2 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0010 a0001c0002t0067 a0001c0002t0005 a0001c0002t0010 a0001c0002t0067	a0001c0002t0005g0226 a0001c0002t0005g0227 a0001c0002t0005g0228 others(7): Show a0001c0002t0005g0226 a0001c0002t0005g0227 a0001c0002t0005g0228 a0001c0002t0005g0229 a0001c0002t0005g0230 a0001c0002t0010g0222 a0001c0002t0010g0223 a0001c0002t0010g0224 a0001c0002t0010g0225 a0001c0002t0067g0221	10	234	0.0427	21	c.142 others(40): Show c.142+64955_142+64975dupTCCCCTTCCACCTCTTCTGCC	NR6A1	ENSG00000148200.17	transcript	ENST00000487099.7	protein_coding	2/9			chr9	TogoVar
NRBF2_chr10_63128328_63160024	63133956	C C	CCACTTCC others(14): Show CCACTTCCCCCTCCTCACCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02622.hp1 others(6): Show HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03834.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0003t0008 a0001c0001t0004 a0001c0003t0001 a0001c0003t0008	a0001c0001t0004g0103 a0001c0003t0001g0048 a0001c0003t0001g0257 others(5): Show a0001c0001t0004g0103 a0001c0003t0001g0048 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0262 a0001c0003t0008g0261	9	392	0.0230	21	c.30+ others(34): Show c.30+477_30+497dupTCACTTCCCCCTCCTCACCCT	NRBF2	ENSG00000148572.16	transcript	ENST00000277746.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRBF2_chr10_63128328_63160024	63133977	T T	TCACTTCC others(14): Show TCACTTCCCCCTCCTCACCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01071.hp2 others(16): Show HG00280.hp2 HG00323.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01884.hp1 HG02257.hp2 HG02293.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03139.hp1 HG03471.hp1 HG03579.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0102 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0102 a0001c0001t0001g0225 a0001c0001t0002g0021 a0001c0001t0002g0101 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0002t0001g0043 a0001c0002t0001g0226 a0001c0002t0001g0227	19	392	0.0485	21	c.30+ others(34): Show c.30+511_30+531dupCTCACCCTCCACTTCCCCCTC	NRBF2	ENSG00000148572.16	transcript	ENST00000277746.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG02145.hp1 others(1): Show HG00621.hp1 HG00621.hp2 HG02145.hp1 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0007 others(1): Show a0001c0002 a0001c0004 a0002c0007 a0002c0010	a0001c0002t0001 a0001c0004t0002 a0002c0007t0018 others(1): Show a0001c0002t0001 a0001c0004t0002 a0002c0007t0018 a0002c0010t0002	a0001c0002t0001g0126 a0001c0004t0002g0175 a0002c0007t0018g0033 others(1): Show a0001c0002t0001g0126 a0001c0004t0002g0175 a0002c0007t0018g0033 a0002c0010t0002g0052	4	208	0.0192	21	c.-10 others(42): Show c.-107+13550_-107+13551insCTTTCTTTCTTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar

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