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
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp1 NA18969.hp1 HG02055.hp2 HG02922.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0035 a0001c0001t0001g0133 a0001c0001t0008g0102 a0001c0001t0001g0035 a0001c0001t0001g0133 a0001c0001t0008g0102	3	346	0.0087	21	c.658 others(38): Show c.658-4615_658-4614insATATATATATATATATTTTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01928.hp1 HG01943.hp2 others(12): Show HG00609.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG02300.hp2 HG03834.hp1 NA18955.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18988.hp1 NA19076.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0001 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0045 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0008g0117 a0001c0001t0010g0019	15	346	0.0434	21	c.658 others(38): Show c.658-4615_658-4614insATATATATATATATATATTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01981.hp1 HG02015.hp1 others(16): Show HG00558.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02717.hp1 HG04228.hp2 NA18945.hp2 NA18980.hp2 NA18986.hp2 NA19043.hp2 NA19070.hp2 NA19084.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0001 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0026 others(16): Show a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0008g0071 a0001c0001t0016g0339	19	346	0.0549	21	c.658 others(38): Show c.658-4615_658-4614insATATATATATATATATATATT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG02965.hp2 others(2): Show HG01243.hp1 HG02895.hp1 HG02965.hp2 HG03704.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0068 a0001c0001t0001g0100 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0100 a0001c0001t0001g0127 a0001c0001t0008g0103 a0001c0001t0008g0125	5	346	0.0145	21	c.658 others(38): Show c.658-4615_658-4614insATATATATATATATATATATA	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATAAT others(14): Show TATATAATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	346	0.0029	21	c.658 others(38): Show c.658-4633_658-4632insGTATATATATATATATTATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103087140	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0015 a0001c0002t0004g0015	1	340	0.0029	21	c.25 others(32): Show c.2511_*2531dupAAAAAAAAAAAAAAAAAAAAA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding		897		chr10	TogoVar
NT5DC2_chr3_52519387_52538857	52533776	C C	CCCGCCCG others(14): Show CCCGCCCGCCGCCCGCCGCCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01993.hp2 HG03017.hp1 HG03017.hp2 others(4): Show HG01993.hp2 HG03017.hp1 HG03017.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp2 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0011 a0002c0002t0008 a0001c0008t0011 a0002c0002t0008	a0001c0008t0011g0047 a0002c0002t0008g0011 a0001c0008t0011g0047 a0002c0002t0008g0011	7	386	0.0181	21	c.-40 others(28): Show c.-40_-39insCGGGCGGCGGGCGGCGGGCGG	NT5DC2	ENSG00000168268.11	transcript	ENST00000422318.7	protein_coding	1/14	40		chr3	TogoVar
NTM_chr11_131365615_132341822	131389024	A A	AAAAAAGA others(14): Show AAAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp2 HG02109.hp1 others(4): Show HG00558.hp1 HG01081.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG03471.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0002g0020 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0006g0034 a0001c0001t0009g0015 a0001c0002t0003g0016	7	86	0.0814	21	c.82+ others(38): Show c.82+18140_82+18141insAGAAAAGAAAAGAAAAGAAAA	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(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00642.hp2 others(5): Show HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG02258.hp2 HG02451.hp1 HG02602.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001	a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0004g0014 others(5): Show a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0004g0014 a0001c0001t0005g0001 a0001c0001t0008g0070 a0001c0001t0013g0048 a0001c0001t0014g0080 a0001c0002t0001g0066	8	86	0.0930	21	c.82+ others(38): Show c.82+53730_82+53731insTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131432839	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	86	0.0116	21	c.82+ others(38): Show c.82+61963_82+61983dupTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132070708	T T	TAGTTAAC others(14): Show TAGTTAACACGTCACACAGCCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03540.hp2 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0004g0029 a0001c0001t0001g0004 a0001c0001t0004g0029	2	86	0.0233	21	c.168 others(40): Show c.168-75560_168-75540dupCACAGCCAAGTTAACACGTCA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9114160	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	258	0.0039	21	c.101 others(42): Show c.1019-48653_1019-48652insTATATATATATATATATATAT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN1_chr17_9016510_9249000	9114162	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03017.hp1 HG02683.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0061 a0001c0001t0005g0206 a0001c0001t0001g0061 a0001c0001t0005g0206	2	258	0.0078	21	c.101 others(42): Show c.1019-48651_1019-48650insTATATATATATATATATATAT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN4_chr12_95652807_95795764	95700080	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18952.hp1 NA19081.hp2 NA18944.hp1 NA18952.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239	3	324	0.0093	21	c.118 others(42): Show c.1180+10340_1180+10360dupAAAAAAAAAAAAAAAAAAAAA	NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	5/9			chr12	TogoVar
NTN4_chr12_95652807_95795764	95770988	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp1 HG03471.hp2 HG02559.hp1 HG02976.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0014 a0001c0001t0004g0052 a0001c0001t0015g0049 a0001c0001t0004g0014 a0001c0001t0004g0052 a0001c0001t0015g0049	3	324	0.0093	21	c.585 others(40): Show c.585+15950_585+15951insAAAAAAAAAAAAAAAAAAAAA	NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	2/9			chr12	TogoVar
NTN5_chr19_48656407_48678017	48669913	C C	CACCATCA others(14): Show CACCATCACCATCATCACCACT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0075 a0001c0018t0001g0075	1	412	0.0024	21	c.631 others(36): Show c.631+422_631+442dupAGTGGTGATGATGGTGATGGT	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NTNG2_chr9_132157058_132249526	132185876	G G	GGGAGGAG others(14): Show GGGAGGAGGAGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0054 a0001c0004t0001g0054	1	358	0.0028	21	c.214 others(40): Show c.214-12079_214-12059dupGAGGAGGGAAAGGAGGAGGAG	NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84797772	A A	ATATATTA others(14): Show ATATATTATATATTATATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02809.hp2 HG01192.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0136 a0001c0001t0009g0149 a0001c0001t0002g0136 a0001c0001t0009g0149	2	170	0.0118	21	c.139 others(42): Show c.1396+45691_1396+45692insTTATATATTATATATACTATA	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84888982	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19010.hp2 NA18983.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0078 a0001c0001t0005g0054 a0001c0001t0003g0078 a0001c0001t0005g0054	2	170	0.0118	21	c.163 others(42): Show c.1633+21557_1633+21577dupTTTTTTTTTTTTTTTTTTTTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84924229	T T	TAGAAAGA others(14): Show TAGAAAGAAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	170	0.0059	21	c.163 others(40): Show c.1634-9924_1634-9923insAGAAAGAAAGAAAGAAAGAAA	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTS_chr12_85869295_85887992	85879414	T T	TTTTATGT others(14): Show TTTTATGTATATTTTATGTATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	420	0.0024	21	c.360 others(36): Show c.360+848_360+849insATGTATATTTTATGTATATTT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUBPL_chr14_31556404_31866224	31864434	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02723.hp1 HG02109.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0022 a0001c0001t0010g0024 a0001c0001t0010g0022 a0001c0001t0010g0024	2	268	0.0075	21	c.52 others(32): Show c.5254_*5255insTTTTTTTTTTTTTTTTTTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding		3211		chr14	TogoVar
NUCB2_chr11_17271739_17337211	17291545	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA19078.hp2 HG01928.hp1 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0104 a0003c0003t0001g0116 a0003c0003t0001g0104 a0003c0003t0001g0116	2	360	0.0056	21	c.1-3 others(34): Show c.1-3764_1-3763insAAAAAAAAAAAAAAAAAAAAA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDT12_chr5_103543855_103567789	103562821	G G	GAGGGGGG others(14): Show GAGGGGGGGCGGGAGGGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG03130.hp2 HG03195.hp1 HG01361.hp1 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0014 a0001c0003t0005 a0001c0003t0014	a0001c0003t0005g0005 a0001c0003t0005g0023 a0001c0003t0014g0066 a0001c0003t0005g0005 a0001c0003t0005g0023 a0001c0003t0014g0066	3	438	0.0069	21	c.-12 others(30): Show c.-126_-125insGGCCCCCCTCCCGCCCCCCCT	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding		33		chr5	TogoVar
NUDT13_chr10_73105455_73136823	73116876	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0170 a0002c0002t0003g0170	1	324	0.0031	21	c.83+ others(36): Show c.83+2436_83+2456dupTTTTTTTTTTTTTTTTTTTTT	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NUDT18_chr8_22101878_22114419	22104831	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0008 a0001c0003t0007g0008	1	400	0.0025	21	c.24 others(32): Show c.2468_*2469insTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		2046		chr8	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01346.hp1 HG02145.hp2 others(3): Show HG00642.hp2 HG01346.hp1 HG02145.hp2 HG02897.hp2 HG02970.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0009 a0001c0001t0001g0001 a0001c0001t0008g0009	6	400	0.0150	21	c.88 others(30): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		458		chr8	TogoVar
NUDT18_chr8_22101878_22114419	22106428	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	400	0.0025	21	c.87 others(30): Show c.871_*872insGTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		449		chr8	TogoVar
NUDT21_chr16_56424133_56456332	56425436	T T	TGCCGCTG others(14): Show TGCCGCTGCCGCTGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	414	0.0024	21	c.72 others(32): Show c.7275_*7276insGGCGGCGGCAGCGGCAGCGGC	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding		3696		chr16	TogoVar
NUDT21_chr16_56424133_56456332	56425436	T T	TGCCGCTG others(14): Show TGCCGCTGCCGCTGCCGCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	414	0.0024	21	c.72 others(32): Show c.7275_*7276insGGCAGCGGCAGCGGCAGCGGC	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding		3696		chr16	TogoVar
NUDT2_chr9_34324569_34348699	34338327	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02109.hp1 HG02897.hp1 others(8): Show HG01257.hp1 HG02109.hp1 HG02897.hp1 HG03130.hp1 HG03471.hp2 HG03491.hp2 NA18906.hp2 NA18949.hp1 NA18953.hp2 NA18984.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0186 a0001c0001t0001g0192 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0002g0065 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0151	11	436	0.0252	21	c.-15 others(38): Show c.-151-376_-151-356dupAAAAAAAAAAAAAAAAAAAAA	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0266 a0001c0001t0003g0266	1	270	0.0037	21	c.100 others(38): Show c.100-9247_100-9227dupTTTTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93406275	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 NA18945.hp1 HG06807.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0258 a0001c0001t0146 a0001c0001t0258	a0001c0001t0146g0037 a0001c0001t0258g0003 a0001c0001t0146g0037 a0001c0001t0258g0003	2	414	0.0048	21	c.69 others(32): Show c.6906_*6926dupAAAAAAAAAAAAAAAAAAAAA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	6927	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT5_chr10_12160330_12200891	12170059	G G	GTCTCCAC others(14): Show GTCTCCACACAGTATCTCCTCA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	394	0.0025	21	c.550 others(36): Show c.550+637_550+657dupTGAGGAGATACTGTGTGGAGA	NUDT5	ENSG00000165609.14	transcript	ENST00000491614.6	protein_coding	9/9			chr10	TogoVar
NUDT6_chr4_122887577_122927597	122899044	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02055.hp2 others(4): Show HG01167.hp1 HG01243.hp1 HG02055.hp2 HG03688.hp2 NA18979.hp2 NA18982.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0100 a0002c0001t0001g0153 a0002c0001t0001g0154 others(4): Show a0001c0003t0001g0100 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0185 a0002c0001t0001g0188 a0002c0001t0001g0201 a0002c0001t0001g0236	7	368	0.0190	21	c.499 others(38): Show c.499-1367_499-1366insAAAAAAAAAAAAAAAAAAAAA	NUDT6	ENSG00000170917.14	transcript	ENST00000304430.10	protein_coding	3/4			chr4	TogoVar
NUMA1_chr11_71997864_72085542	72049560	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03579.hp2 NA19056.hp1 HG02630.hp1 HG03579.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0189 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0001t0001g0189 a0001c0003t0001g0142 a0001c0003t0001g0143	3	244	0.0123	21	c.-32 others(40): Show c.-32-13586_-32-13585insATATATATATATATATATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73294950	T T	TTAAAAAA others(14): Show TTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	322	0.0031	21	c.310 others(38): Show c.310-2077_310-2076insTTTTTTTTTTTTTTTTTTTTA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73313668	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	322	0.0031	21	c.234 others(38): Show c.234+2721_234+2722insTTTTTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	6/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA19054.hp1 HG00438.hp2 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0256 a0002c0002t0002g0238 a0002c0002t0002g0256	2	276	0.0073	21	c.22 others(32): Show c.2231_*2232insATATATATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0119 a0003c0003t0002g0119	1	276	0.0036	21	c.22 others(32): Show c.2231_*2232insAAATATATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0002 a0009c0015t0002	a0009c0015t0002g0250 a0009c0015t0002g0250	1	276	0.0036	21	c.22 others(32): Show c.2231_*2232insAAAAATATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0115 a0003c0003t0003g0115	1	276	0.0036	21	c.22 others(32): Show c.2231_*2232insAAAAAAAAATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP133_chr1_229435259_229513341	229449874	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0121 a0003c0003t0004g0121	1	276	0.0036	21	c.318 others(38): Show c.3180+650_3180+651insTATATATATATATATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	23/25			chr1	TogoVar
NUP153_chr6_17610037_17711925	17678352	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03579.hp1 HG01884.hp2 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0296 a0003c0004t0001g0301 a0003c0004t0001g0296 a0003c0004t0001g0301	2	316	0.0063	21	c.335 others(38): Show c.335-2603_335-2583dupTTTTTTTTTTTTTTTTTTTTT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	2/21			chr6	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02083.hp2 HG03704.hp2 others(1): Show HG00323.hp1 HG02083.hp2 HG03704.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0001 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0010g0147 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0010g0147 a0001c0001t0012g0112	4	300	0.0133	21	c.393 others(38): Show c.3930+303_3930+323dupTTTTTTTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47831842	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp2 HG02258.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0332 a0001c0001t0001g0333	2	338	0.0059	21	c.999 others(38): Show c.999+3788_999+3808dupTTTTTTTTTTTTTTTTTTTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	7/35			chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01891.hp1 HG02055.hp2 others(9): Show HG00738.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02622.hp2 HG03098.hp2 HG03209.hp1 HG03492.hp1 NA18747.hp1 NA18960.hp2 NA18964.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0041 others(9): Show a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0002t0001g0048 a0001c0002t0001g0081	12	296	0.0405	21	c.196 others(38): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TAATATAT others(14): Show TAATATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01123.hp1 others(4): Show HG00639.hp1 HG00733.hp1 HG01123.hp1 HG01993.hp1 HG03225.hp2 HG03654.hp2 HG04204.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0001c0011 others(2): Show a0001c0001 a0001c0003 a0001c0011 a0001c0032 a0010c0018	a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 a0001c0032t0001 a0010c0018t0001	a0001c0001t0001g0130 a0001c0001t0001g0163 a0001c0001t0001g0164 others(4): Show a0001c0001t0001g0130 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0003t0001g0128 a0001c0011t0001g0126 a0001c0032t0001g0166 a0010c0018t0001g0102	7	352	0.0199	21	c.29- others(34): Show c.29-317_29-316insAATATATATTAATTATATTAA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NUP205_chr7_135552917_135653753	135579357	G G	GTGTATTT others(14): Show GTGTATTTTTAGTAGAAATGGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18973.hp2 NA18943.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0246 a0001c0002t0001g0248	2	352	0.0057	21	c.104 others(38): Show c.1042+442_1042+443insTGTATTTTTAGTAGAAATGGT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	7/42			chr7	TogoVar
NUP210L_chr1_153987690_154160073	154055125	T T	TTCTTTCT others(14): Show TTCTTTCTCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03654.hp1 HG04204.hp1 HG03017.hp1 HG03654.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0102	3	290	0.0103	21	c.324 others(38): Show c.3241-294_3241-293insGAAAAGAAAGAAAGAGAAAGA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	23/39			chr1	TogoVar

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