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
NSRP1_chr17_30111816_30191475	30171972	A A	ACACTCCC others(17): Show ACACTCCCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	282	0.0036	24	c.115 others(39): Show c.115-569_115-568insACTCCCTCTCTCTCTCTCTCTCTC	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0082 a0003c0003t0006g0082	1	388	0.0026	24	c.754 others(39): Show c.754-454_754-453insAAAAAAAAAAAATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0197 a0003c0003t0003g0197	1	388	0.0026	24	c.754 others(39): Show c.754-454_754-453insAAAAAAAAAATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18551244	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0136 a0001c0001t0004g0137	2	346	0.0058	24	c.107 others(41): Show c.1071+555_1071+578dupCACACACACACACACACACACACA	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	9/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0338 a0001c0001t0016g0338	1	346	0.0029	24	c.658 others(41): Show c.658-4615_658-4614insATATATATATATATATATATATTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(17): Show TATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02056.hp1 NA18963.hp1 others(1): Show HG02015.hp2 HG02056.hp1 NA18963.hp1 NA19007.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0091 a0006c0007t0001g0089	4	346	0.0116	24	c.658 others(41): Show c.658-4633_658-4632insGTATGTATATATATATATATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103087140	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0016 a0001c0002t0004g0016	1	340	0.0029	24	c.25 others(35): Show c.2508_*2531dupAAAAAAAAAAAAAAAAAAAAAAAA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding		897		chr10	TogoVar
NT5C2_chr10_103083038_103198272	103129525	G G	GCGCCTCT others(17): Show GCGCCTCTGCCCGGCTGCCCCTACT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0188 a0001c0002t0006g0188	1	340	0.0029	24	c.175 others(41): Show c.175+9880_175+9881insAGTAGGGGCAGCCGGGCAGAGGCG	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103183262	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0172 a0001c0001t0007g0172	1	340	0.0029	24	c.-16 others(43): Show c.-168-1958_-168-1935dupATATATATATATATATATATATAT	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NT5DC4_chr2_112716020_112744095	112720012	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG01884.hp2 HG02280.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0250 a0008c0008t0001g0273 a0008c0008t0001g0250 a0008c0008t0001g0273	2	364	0.0055	24	c.-10 others(35): Show c.-1068_-1067insCCTTCCTTCCTTCCTTCCTTCCTT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1007		chr2	TogoVar
NTAQ1_chr8_123411774_123447240	123419733	G G	GCCCTCCC others(17): Show GCCCTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03041.hp2 HG01099.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0031 a0001c0001t0003g0032	2	366	0.0055	24	c.83+ others(39): Show c.83+2802_83+2825dupCCCTCCCTCCCTCCCTCCCTCCCT	NTAQ1	ENSG00000156795.8	transcript	ENST00000287387.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
NTM_chr11_131365615_132341822	131401812	A A	ATATATAT others(17): Show ATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01978.hp1 HG00642.hp2 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0066 a0001c0002t0012g0068 a0001c0002t0001g0066 a0001c0002t0012g0068	2	86	0.0233	24	c.82+ others(41): Show c.82+30945_82+30946insGTGTATATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131424600	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	86	0.0116	24	c.82+ others(41): Show c.82+53730_82+53731insTTTTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131787354	G G	GATTATTA others(17): Show GATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	86	0.0116	24	c.83- others(43): Show c.83-124206_83-124183dupATTATTATTATTATTATTATTATT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131834625	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA20905.hp1 HG03710.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0076 a0001c0001t0003g0006 a0001c0001t0002g0076 a0001c0001t0003g0006	2	86	0.0233	24	c.83- others(41): Show c.83-76919_83-76918insATATATATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9193938	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01358.hp1 HG01952.hp1 others(4): Show HG01256.hp2 HG01358.hp1 HG01952.hp1 HG01981.hp1 HG02602.hp1 HG04204.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0033 a0001c0002t0002	a0001c0001t0001g0089 a0001c0001t0001g0218 a0001c0001t0002g0056 others(4): Show a0001c0001t0001g0089 a0001c0001t0001g0218 a0001c0001t0002g0056 a0001c0001t0005g0135 a0001c0001t0016g0117 a0001c0001t0033g0196 a0001c0002t0002g0138	7	258	0.0271	24	c.141 others(45): Show c.1411+10975_1411+10976insAAAAAAAAAAAAAAAAACAAAAAA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9204193	C C	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02257.hp2 others(12): Show HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0031 a0001c0001t0035 a0001c0001t0046 a0001c0002t0004 a0001c0002t0048	a0001c0001t0001g0103 a0001c0001t0001g0183 a0001c0001t0002g0112 others(12): Show a0001c0001t0001g0103 a0001c0001t0001g0183 a0001c0001t0002g0112 a0001c0001t0002g0254 a0001c0001t0003g0247 a0001c0001t0004g0005 a0001c0001t0013g0018 a0001c0001t0013g0020 a0001c0001t0014g0041 a0001c0001t0017g0249 a0001c0001t0031g0123 a0001c0001t0035g0158 a0001c0001t0046g0007 a0001c0002t0004g0185 a0001c0002t0048g0181	15	258	0.0581	24	c.141 others(45): Show c.1412-16969_1412-16946dupCCTTCCTTCCTTCCTTCCTTCCTT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN4_chr12_95652807_95795764	95654814	A A	AATGTTGG others(17): Show AATGTTGGGATGATGGGATGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02976.hp1 others(7): Show HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0026 a0001c0001t0012 a0001c0001t0015 a0001c0001t0026	a0001c0001t0012g0068 a0001c0001t0012g0069 a0001c0001t0012g0070 others(7): Show a0001c0001t0012g0068 a0001c0001t0012g0069 a0001c0001t0012g0070 a0001c0001t0012g0072 a0001c0001t0012g0212 a0001c0001t0012g0216 a0001c0001t0012g0249 a0001c0001t0015g0029 a0001c0001t0015g0049 a0001c0001t0026g0309	10	324	0.0309	24	c.42 others(35): Show c.4271_*4272insCCCATCATCCCATCATCCCAACAT	NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding		2992		chr12	TogoVar
NTN4_chr12_95652807_95795764	95700080	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	324	0.0031	24	c.118 others(45): Show c.1180+10337_1180+10360dupAAAAAAAAAAAAAAAAAAAAAAAA	NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	5/9			chr12	TogoVar
NTRK1_chr1_156855865_156886850	156869018	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02155.hp1 HG03239.hp2 others(3): Show HG01346.hp2 HG02155.hp1 HG03239.hp2 NA19055.hp2 NA19056.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0001t0001 a0001c0003t0001 a0001c0006t0001	a0001c0001t0001g0118 a0001c0003t0001g0142 a0001c0003t0001g0143 others(3): Show a0001c0001t0001g0118 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0231 a0001c0006t0001g0098	6	392	0.0153	24	c.717 others(39): Show c.717+420_717+443dupCCTTCCTTCCTTCCTTCCTTCCTT	NTRK1	ENSG00000198400.14	transcript	ENST00000524377.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTRK2_chr9_84664729_85032054	84797775	T T	TTATATAT others(17): Show TTATATATTATATATACTATAATAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02717.hp1 HG03516.hp2 others(1): Show HG01123.hp2 HG02717.hp1 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0007 a0001c0001t0002g0132 a0001c0001t0009g0128 others(1): Show a0001c0001t0002g0007 a0001c0001t0002g0132 a0001c0001t0009g0128 a0001c0001t0009g0130	4	170	0.0235	24	c.139 others(45): Show c.1396+45690_1396+45691insTATATATTATATATACTATAATAA	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18			chr9	TogoVar
NTRK2_chr9_84664729_85032054	84870331	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02886.hp1 HG02293.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0126 a0001c0001t0003g0071 a0001c0001t0001g0126 a0001c0001t0003g0071	2	170	0.0118	24	c.163 others(43): Show c.1633+2901_1633+2902insGTGTGTGTGTATATATATATATAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84870331	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	170	0.0059	24	c.163 others(43): Show c.1633+2901_1633+2902insGTGTGTGTGTGTATATATATATAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84888982	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0080 a0001c0001t0007g0080	1	170	0.0059	24	c.163 others(45): Show c.1633+21554_1633+21577dupTTTTTTTTTTTTTTTTTTTTTTTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84926165	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0056 a0002c0007t0056	a0002c0007t0056g0098 a0002c0007t0056g0098	1	170	0.0059	24	c.163 others(43): Show c.1634-7994_1634-7993insTCTTTCTTTCTTTCTTTCTTTCTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK3_chr15_87854751_88261739	87886676	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0013 a0001c0003t0011 a0001c0005t0007 a0001c0002t0013 a0001c0003t0011 a0001c0005t0007	a0001c0002t0013g0059 a0001c0003t0011g0116 a0001c0005t0007g0109 a0001c0002t0013g0059 a0001c0003t0011g0116 a0001c0005t0007g0109	3	134	0.0224	24	c.213 others(41): Show c.2134-965_2134-942dupTATATATATATATATATATATATA	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	87886699	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18962.hp2 HG00738.hp2 NA18962.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0080 a0001c0004t0029 a0001c0004t0080	a0001c0004t0029g0056 a0001c0004t0080g0129 a0001c0004t0029g0056 a0001c0004t0080g0129	2	134	0.0149	24	c.213 others(41): Show c.2134-965_2134-964insGTATATATATATATATATATATAT	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	88033176	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG03098.hp1 HG02615.hp2 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0052 a0001c0002t0066 a0001c0005t0002 a0001c0002t0052 a0001c0002t0066 a0001c0005t0002	a0001c0002t0052g0010 a0001c0002t0066g0065 a0001c0005t0002g0092 a0001c0002t0052g0010 a0001c0002t0066g0065 a0001c0005t0002g0092	3	134	0.0224	24	c.139 others(41): Show c.1397-155_1397-132dupTATATATATATATATATATATATA	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	13/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	88191163	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	1	134	0.0075	24	c.249 others(41): Show c.249-6888_249-6865dupACACACACACACACACACACACAC	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	3/19			chr15	TogoVar
NTSR1_chr20_62703836_62767771	62767642	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0229 a0001c0001t0047g0229	1	316	0.0032	24	c.73 others(35): Show c.7375_*7376insAGAAAGAAAGAAAGAGAGAGAGAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4872		chr20	TogoVar
NTS_chr12_85869295_85887992	85886058	A A	AGGAAGAA others(17): Show AGGAAGAAGAAAAAGAGAAAAGAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG03669.hp2 HG00738.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	420	0.0048	24	c.36 others(35): Show c.3683_*3684insGGAAGAAGAAAAAGAGAAAAGAAC	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding		3067		chr12	TogoVar
NUBPL_chr14_31556404_31866224	31666263	A A	ATATATAT others(17): Show ATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02056.hp2 NA18969.hp2 others(3): Show HG00741.hp2 HG02056.hp2 NA18969.hp2 NA18981.hp1 NA19054.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0003g0134 a0001c0001t0003g0156 a0001c0001t0003g0169 others(3): Show a0001c0001t0003g0134 a0001c0001t0003g0156 a0001c0001t0003g0169 a0001c0001t0003g0184 a0001c0001t0004g0131 a0001c0001t0009g0193	6	268	0.0224	24	c.383 others(41): Show c.383-7092_383-7091insTATATATATATATATATATTTATT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10			chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(17): Show TGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03130.hp1 HG03453.hp2 HG02897.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0235 a0001c0001t0002g0247 a0001c0001t0002g0017 a0001c0001t0002g0235 a0001c0001t0002g0247	3	268	0.0112	24	c.514 others(43): Show c.514-27635_514-27634insTGTGTGTGAGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	268	0.0037	24	c.514 others(43): Show c.514-27635_514-27634insTGTGTGTGTGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18993.hp1 HG03017.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0120 a0001c0001t0004g0197 a0001c0001t0003g0120 a0001c0001t0004g0197	2	268	0.0075	24	c.514 others(43): Show c.514-27635_514-27634insTGTGTGTGTGTGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20300.hp2 HG02717.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0113 a0001c0001t0013g0267 a0001c0001t0008g0113 a0001c0001t0013g0267	2	268	0.0075	24	c.514 others(43): Show c.514-27635_514-27634insTGTGTGTGTGTGTGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31841917	C C	CTTTTGTT others(17): Show CTTTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0226 a0001c0001t0005g0226	1	268	0.0037	24	c.694 others(41): Show c.694-4550_694-4549insGTTTTTTTTTTTTTTTTTTTTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB1_chr19_48895312_48928372	48925200	T T	TCTCCTGC others(17): Show TCTCCTGCCTCAGTCTCCTGAGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0390 a0001c0001t0002g0390	1	398	0.0025	24	c.27 others(35): Show c.2776_*2777insCTCCTGCCTCAGTCTCCTGAGTAG	NUCB1	ENSG00000104805.17	transcript	ENST00000405315.9	protein_coding		1829		chr19	TogoVar
NUCB2_chr11_17271739_17337211	17288880	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	360	0.0028	24	c.-1+ others(39): Show c.-1+5938_-1+5939insCACACACACACACACACACACACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109311556	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02109.hp2 HG02559.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0202 a0005c0005t0007g0203 a0005c0005t0007g0202 a0005c0005t0007g0203	2	360	0.0056	24	c.273 others(43): Show c.273+10752_273+10753insATATATATATATATATATATATAT	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0192 a0003c0003t0003g0192	1	360	0.0028	24	c.273 others(43): Show c.273+10749_273+10750insTATATATATATATATATATATATA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDC_chr1_26916743_26951871	26936134	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	254	0.0039	24	c.160 others(41): Show c.160-5314_160-5291dupATATATATATATATATATATATAT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDT12_chr5_103543855_103567789	103557280	G G	GGTATATA others(17): Show GGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(8): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG02027.hp1 NA18956.hp1 NA18984.hp1 NA18999.hp1 NA19006.hp2 NA19007.hp1 NA19062.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0029 a0001c0001t0003g0013 a0001c0001t0003g0104 others(1): Show a0001c0001t0002g0029 a0001c0001t0003g0013 a0001c0001t0003g0104 a0001c0001t0003g0105	11	438	0.0251	24	c.797 others(41): Show c.797-1183_797-1182insATATATATATATATATATATATAC	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6			chr5	TogoVar
NUDT13_chr10_73105455_73136823	73107919	C C	CTGAGTTC others(17): Show CTGAGTTCTGAGCTATTTTTATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(73): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp1 HG01081.hp2 HG01256.hp2 HG01261.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp2 HG03098.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18963.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0002 a0001c0001t0002 a0005c0006t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0007 others(31): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0005c0006t0002g0003	76	324	0.2346	24	c.-26 others(35): Show c.-2658_-2657insTGAGTTCTGAGCTATTTTTATTAT	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding		2535		chr10	TogoVar
NUDT17_chr1_145840630_145853954	145842793	T T	TGATAGAT others(17): Show TGATAGATAGATAGATAGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02109.hp1 HG02155.hp1 others(15): Show HG00597.hp1 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02630.hp2 HG02723.hp1 HG03139.hp1 HG03453.hp2 HG03540.hp1 HG04199.hp2 NA18942.hp1 NA18945.hp2 NA18961.hp2 NA18977.hp1 NA18985.hp1 NA19001.hp2 NA19005.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0002c0005t0002	a0001c0001t0001g0004 a0001c0001t0002g0005 a0001c0002t0001g0004 others(4): Show a0001c0001t0001g0004 a0001c0001t0002g0005 a0001c0002t0001g0004 a0001c0002t0002g0004 a0001c0004t0001g0007 a0001c0004t0002g0007 a0002c0005t0002g0005	18	406	0.0443	24	c.-28 others(35): Show c.-2848_-2847insGATAGATAGATAGATAGATAGATA	NUDT17	ENSG00000186364.12	transcript	ENST00000334513.6	protein_coding		2836		chr1	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG02027.hp1 others(4): Show HG01123.hp2 HG01192.hp2 HG02027.hp1 HG03654.hp2 HG04204.hp1 NA18612.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0001t0001 a0001c0001t0006 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0006g0007 a0001c0001t0019g0001 a0001c0001t0001g0001 a0001c0001t0006g0007 a0001c0001t0019g0001	7	400	0.0175	24	c.88 others(33): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		458		chr8	TogoVar
NUDT18_chr8_22101878_22114419	22106446	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	24	c.85 others(33): Show c.853_*854insATTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		431		chr8	TogoVar
NUDT21_chr16_56424133_56456332	56425420	T T	TCGCTGCC others(17): Show TCGCTGCCGCTGCCGCTGCCGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18953.hp1 NA18956.hp1 others(9): Show NA18951.hp1 NA18953.hp1 NA18956.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18986.hp2 NA18991.hp2 NA18999.hp1 NA19004.hp1 NA19009.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0025 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151	12	414	0.0290	24	c.72 others(35): Show c.7291_*7292insGCAGCGGCAGCGGCAGCGGCAGCG	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding		3712		chr16	TogoVar
NUDT21_chr16_56424133_56456332	56435743	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	414	0.0024	24	c.472 others(39): Show c.472-938_472-915dupTATATATATATATATATATATATA	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding	4/6			chr16	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG04115.hp1 HG01358.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0077 a0001c0001t0003 a0001c0001t0077	a0001c0001t0003g0197 a0001c0001t0077g0186 a0001c0001t0003g0197 a0001c0001t0077g0186	2	270	0.0074	24	c.100 others(41): Show c.100-9250_100-9227dupTTTTTTTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar

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