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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NTRK2_chr9_84664729_85032054	85011958	A A	ATTATTTT others(23): Show ATTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18522.hp1 NA18947.hp2 others(4): Show HG01928.hp1 NA18522.hp1 NA18947.hp2 NA18961.hp1 NA18961.hp2 NA19080.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0001t0035 a0001c0001t0057 a0004c0007t0056	a0001c0001t0004g0055 a0001c0001t0004g0121 a0001c0001t0006g0008 others(4): Show a0001c0001t0004g0055 a0001c0001t0004g0121 a0001c0001t0006g0008 a0001c0001t0022g0094 a0001c0001t0035g0062 a0001c0001t0057g0075 a0004c0007t0056g0098	7	170	0.0412	30	c.217 others(49): Show c.2173-8234_2173-8205dupTTTTATTTTATTTTATTTTATTTTAT TTTA		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK3_chr15_87854751_88261739	87886699	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0132 a0001c0001t0069g0132	1	134	0.0075	30	c.213 others(47): Show c.2134-965_2134-964insGTATATATATATATATATATATATATAT AT		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19						chr15	TogoVar
NTS_chr12_85869295_85887992	85879733	A A	ATGTATAT others(23): Show ATGTATATAAAATATATTTTTTGTATATTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp1 HG03130.hp1 HG02109.hp1 HG02723.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144	3	420	0.0071	30	c.360 others(47): Show c.360+1215_360+1244dupTGTATATTTTTGTATATAAAATATATTT TT		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
NUBPL_chr14_31556404_31866224	31666263	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02602.hp1 NA19007.hp1 HG02015.hp1 HG02602.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0004g0181 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0004g0181	3	268	0.0112	30	c.383 others(47): Show c.383-7092_383-7091insTATATATATATATATATATATATATTTA TT		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10						chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(23): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03471.hp1 HG03486.hp2 HG02896.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0234 a0001c0001t0002g0245 a0001c0001t0015g0016 a0001c0001t0002g0234 a0001c0001t0002g0245 a0001c0001t0015g0016	3	268	0.0112	30	c.514 others(49): Show c.514-27635_514-27634insTGTGTGTGAGAGAGAGAGAGAGAGAG AGAG		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(23): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0266 a0001c0001t0013g0266	1	268	0.0037	30	c.514 others(49): Show c.514-27635_514-27634insTGTGTGTGTGTGAGAGAGAGAGAGAG AGAG		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(23): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	268	0.0037	30	c.514 others(49): Show c.514-27635_514-27634insTGTGTGTGTGTGTGAGAGAGAGAGAG AGAG		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(23): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	268	0.0037	30	c.514 others(49): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGAGAGAGAGAG AGAG		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31831468	T T	TGTACTAT others(23): Show TGTACTATACCATACCATACCATACCATACC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03704.hp2 HG01433.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0065 a0001c0001t0001g0066	2	268	0.0075	30	c.693 others(47): Show c.693+4754_693+4755insGTACTATACCATACCATACCATACCATA CC		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	8/10						chr14	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0008 a0006c0006t0008	a0006c0006t0008g0168 a0006c0006t0008g0168	1	360	0.0028	30	c.273 others(49): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATA		NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9						chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04199.hp1 HG02683.hp1 HG04199.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0163 a0004c0004t0009g0166 a0004c0004t0009g0163 a0004c0004t0009g0166	2	360	0.0056	30	c.273 others(49): Show c.273+10749_273+10750insTATATATATATATATATATATATATA CACA		NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9						chr8	TogoVar
NUDC_chr1_26916743_26951871	26927187	C C	CGTGTGTG others(23): Show CGTGTGTGTGTATGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0214 a0001c0001t0009g0214	1	254	0.0039	30	c.159 others(47): Show c.159+3031_159+3032insATGTGTGTGTGTGTGTGTGTGTGTGTGT GT		NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDC_chr1_26916743_26951871	26927187	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02976.hp1 HG01106.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0213 a0001c0001t0009g0215 a0001c0001t0002g0213 a0001c0001t0009g0215	2	254	0.0079	30	c.159 others(47): Show c.159+3035_159+3036insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		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(23): Show GGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18946.hp1 NA19060.hp2 others(1): Show HG02735.hp1 NA18946.hp1 NA19060.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0042 a0001c0001t0003g0107 a0001c0001t0003g0112 a0001c0001t0002g0042 a0001c0001t0003g0107 a0001c0001t0003g0112	4	438	0.0091	30	c.797 others(47): Show c.797-1183_797-1182insATATATATATATATATATATATATATAT AC		NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6						chr5	TogoVar
NUDT13_chr10_73105455_73136823	73125651	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02970.hp2 HG01243.hp1 HG02559.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0159 a0002c0002t0003g0164 a0002c0002t0003g0166 a0002c0002t0003g0159 a0002c0002t0003g0164 a0002c0002t0003g0166	3	324	0.0093	30	c.703 others(45): Show c.703+168_703+169insTATATATATATATATATATATATATATATA		NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	30	c.88 others(39): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding					458		chr8	TogoVar
NUDT21_chr16_56424133_56456332	56425420	T T	TCGCTGCC others(23): Show TCGCTGCCGCTGCCGCTGCCGCTGCCGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18994.hp1 NA19005.hp1 NA18992.hp2 NA18994.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	3	414	0.0073	30	c.72 others(41): Show c.7291_*7292insGCAGCGGCAGCGGCAGCGGCAGCGGCAGCG		NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding					3712		chr16	TogoVar
NUDT21_chr16_56424133_56456332	56435743	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	414	0.0024	30	c.472 others(45): Show c.472-944_472-915dupTATATATATATATATATATATATATATATA		NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding	4/6						chr16	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02056.hp2 HG02083.hp2 others(1): Show HG00544.hp1 HG02056.hp2 HG02083.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0176 a0001c0001t0003g0192 a0001c0001t0003g0213 others(1): Show a0001c0001t0003g0176 a0001c0001t0003g0192 a0001c0001t0003g0213 a0001c0001t0019g0162	4	270	0.0148	30	c.100 others(47): Show c.100-9227_100-9226insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4						chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351216	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0003 a0002c0002t0019g0003	1	270	0.0037	30	c.100 others(47): Show c.100-9245_100-9244insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4						chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351216	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	270	0.0037	30	c.100 others(47): Show c.100-9245_100-9244insGTTTTTTTTTTTTTGTTTTTTTTTTTTT TT		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4						chr6	TogoVar
NUDT3_chr6_34274679_34397669	34354749	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0121 a0001c0001t0020g0121	1	270	0.0037	30	c.100 others(49): Show c.100-12778_100-12777insAATAAATATATATATATATATATATA TATA		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4						chr6	TogoVar
NUDT3_chr6_34274679_34397669	34354749	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0269 a0001c0001t0041g0269	1	270	0.0037	30	c.100 others(49): Show c.100-12778_100-12777insAATAAATAAATATATATATATATATA TATA		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4						chr6	TogoVar
NUDT4_chr12_93372925_93413146	93406275	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0319 a0001c0001t0144g0319	1	414	0.0024	30	c.68 others(41): Show c.6897_*6926dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5				6927	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUFIP2_chr17_29250839_29299148	29282563	C C	CACCAAAA others(23): Show CACCAAAAAACAAAATAAAAACACCTTTCTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	356	0.0028	30	c.200 others(49): Show c.2002+3399_2002+3428dupAAGAAAGGTGTTTTTATTTTGTTTTT TGGT		NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3						chr17	TogoVar
NUMA1_chr11_71997864_72085542	72005248	A A	ATAGCAGG others(23): Show ATAGCAGGTCTTCAGATGTGGGGGGCACACT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	NA18992.hp1 NA18992.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0204 a0023c0027t0001g0204	1	244	0.0041	30	c.578 others(39): Show c.5784_5813dupAGTGTGCCCCCCACATCTGAAGACCTGCTA	p.Cys others(45): Show p.Cys1937_Tyr1938insTerValCysProProHisLeuLysThrCys	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	23/27	6000/7198	5813/6348	1938/2115			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72049559	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG02074.hp1 others(10): Show HG00323.hp2 HG00639.hp2 HG02074.hp1 HG02132.hp2 HG02273.hp2 HG02735.hp2 HG03017.hp2 HG03710.hp1 NA18957.hp2 NA18967.hp1 NA18989.hp1 NA19064.hp1 NA19079.hp1	a0001 a0006 a0017 a0001 a0006 a0017	a0001c0001 a0001c0007 a0006c0011 others(1): Show a0001c0001 a0001c0007 a0006c0011 a0017c0016	a0001c0001t0001 a0001c0007t0001 a0006c0011t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0006c0011t0001 a0017c0016t0001	a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0110 others(10): Show a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0007t0001g0168 a0006c0011t0001g0167 a0017c0016t0001g0193	13	244	0.0533	30	c.-32 others(49): Show c.-32-13585_-32-13584insTATATATATATATATATATATATATA TATA		NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26						chr11	TogoVar
NUMA1_chr11_71997864_72085542	72049560	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0077 a0003c0004t0001g0077	1	244	0.0041	30	c.-32 others(49): Show c.-32-13586_-32-13585insATATATATATATATATATATATATAT ATAT		NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26						chr11	TogoVar
NUMB_chr14_73270216_73463546	73372309	A A	ATATATAT others(23): Show ATATATATATATATATATATATATAACCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	322	0.0031	30	c.-10 others(49): Show c.-100-5329_-100-5328insAAAGGTTATATATATATATATATATA TATA		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12						chr14	TogoVar
NUMB_chr14_73270216_73463546	73372311	A A	ATATATAT others(23): Show ATATATATATATATATATATATATAACCTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	322	0.0031	30	c.-10 others(49): Show c.-100-5331_-100-5330insAAAGGTTATATATATATATATATATA TATA		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12						chr14	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02735.hp1 NA19070.hp1 HG01256.hp1 HG02735.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0003g0157 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0003g0157	3	300	0.0100	30	c.393 others(47): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34						chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(23): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01891.hp1 HG02809.hp2 others(1): Show HG00733.hp1 HG01891.hp1 HG02809.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0275 a0001c0001t0002g0280 others(1): Show a0001c0001t0002g0193 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0307	4	338	0.0118	30	c.38 others(41): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding					2907		chr11	TogoVar
NUP160_chr11_47773118_47853350	47850185	T T	TATTTGCC others(23): Show TATTTGCCTTCTCATTTACTCGTTCTAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	338	0.0030	30	c.-18 others(41): Show c.-1868_-1867insCATTTAGAACGAGTAAATGAGAAGGCAAAT		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding					1836		chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp2 HG02273.hp2 others(2): Show HG01433.hp1 HG01891.hp2 HG02273.hp2 NA18975.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0002t0001g0025 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0080 a0001c0002t0001g0261	5	296	0.0169	30	c.196 others(47): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP210L_chr1_153987690_154160073	154032950	G G	GAAGAAAA others(23): Show GAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp1 HG02109.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0078 a0001c0001t0001g0092	2	290	0.0069	30	c.369 others(49): Show c.3697-2926_3697-2897dupTTCTTTTCTTTTCTTTTCTTTTCTTT TCTT		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	27/39						chr1	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(23): Show CCACCACCACCACCAACAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18950.hp2 NA18961.hp2 others(6): Show NA18942.hp2 NA18950.hp2 NA18961.hp2 NA18964.hp1 NA18969.hp2 NA18993.hp1 NA18999.hp2 NA19012.hp1 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007	a0002c0002t0001g0219 a0002c0002t0004g0250 a0002c0002t0004g0251 others(6): Show a0002c0002t0001g0219 a0002c0002t0004g0250 a0002c0002t0004g0251 a0002c0002t0004g0260 a0002c0002t0004g0283 a0002c0002t0004g0285 a0002c0002t0007g0209 a0002c0002t0007g0264 a0002c0002t0007g0314	9	326	0.0276	30	c.57 others(41): Show c.5713_*5714insTTGTTGTTGTTGTTGTTGGTGGTGGTGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(23): Show CCACCACCACCACCACCAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG01109.hp2 others(18): Show HG00099.hp1 HG00544.hp2 HG01109.hp2 HG01891.hp2 HG01981.hp2 HG02615.hp1 HG03017.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18984.hp2 NA18994.hp1 NA19000.hp2 NA19004.hp1 NA19064.hp1 NA19079.hp1 NA19082.hp1 NA19090.hp1	a0002 a0027 a0032 others(1): Show a0002 a0027 a0032 a0033	a0002c0002 a0027c0029 a0032c0025 others(1): Show a0002c0002 a0027c0029 a0032c0025 a0033c0017	a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 others(3): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0027c0029t0001 a0032c0025t0004 a0033c0017t0001	a0002c0002t0001g0203 a0002c0002t0001g0206 a0002c0002t0001g0208 others(18): Show a0002c0002t0001g0203 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0231 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0258 a0002c0002t0001g0273 a0002c0002t0001g0277 a0002c0002t0001g0280 a0002c0002t0001g0282 a0002c0002t0001g0286 a0002c0002t0001g0311 a0002c0002t0004g0254 a0002c0002t0004g0279 a0002c0002t0007g0236 a0027c0029t0001g0243 a0032c0025t0004g0271 a0033c0017t0001g0267	21	326	0.0644	30	c.57 others(41): Show c.5713_*5714insTTGTTGTTGTTGTTGGTGGTGGTGGTGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(23): Show CCACCACCACCACCACCACCAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01074.hp1 HG01257.hp1 others(8): Show HG00438.hp1 HG01074.hp1 HG01257.hp1 HG01258.hp1 HG02004.hp1 HG03130.hp2 HG03209.hp2 NA18944.hp2 NA18995.hp2 NA19067.hp1 NA19091.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0001 a0002c0002t0004 a0003c0006t0008 a0002c0002t0001 a0002c0002t0004 a0003c0006t0008	a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0227 others(8): Show a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0235 a0002c0002t0001g0263 a0002c0002t0001g0284 a0002c0002t0004g0038 a0002c0002t0004g0205 a0002c0002t0004g0320 a0003c0006t0008g0006 a0003c0006t0008g0007	11	326	0.0337	30	c.57 others(41): Show c.5713_*5714insTTGTTGTTGTTGGTGGTGGTGGTGGTGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(23): Show CCACCACCACCACCACCACCACCAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02965.hp1 HG02280.hp1 HG02965.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0001 a0003c0006t0008 a0002c0002t0001 a0003c0006t0008	a0002c0002t0001g0201 a0003c0006t0008g0005 a0002c0002t0001g0201 a0003c0006t0008g0005	2	326	0.0061	30	c.57 others(41): Show c.5713_*5714insTTGTTGTTGGTGGTGGTGGTGGTGGTGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(23): Show CCACCACCACCACCACCACCACCACCAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01358.hp2 others(3): Show HG00735.hp2 HG01081.hp2 HG01358.hp2 HG01517.hp2 HG01993.hp1 HG03225.hp1	a0005 a0006 a0005 a0006	a0005c0003 a0006c0007 a0005c0003 a0006c0007	a0005c0003t0001 a0006c0007t0001 a0005c0003t0001 a0006c0007t0001	a0005c0003t0001g0216 a0005c0003t0001g0293 a0005c0003t0001g0295 others(3): Show a0005c0003t0001g0216 a0005c0003t0001g0293 a0005c0003t0001g0295 a0005c0003t0001g0300 a0005c0003t0001g0304 a0006c0007t0001g0305	6	326	0.0184	30	c.57 others(41): Show c.5713_*5714insTTGTTGGTGGTGGTGGTGGTGGTGGTGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(23): Show CCACCACCACCACCACCACCACCACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG02630.hp1 HG02976.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0025 a0003c0005t0005g0278 a0003c0005t0005g0025 a0003c0005t0005g0278	2	326	0.0061	30	c.57 others(41): Show c.5713_*5714insTTGGTGGTGGTGGTGGTGGTGGTGGTGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP214_chr9_131120586_131239663	131130137	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0198 a0001c0004t0001g0198	1	234	0.0043	30	c.593 others(45): Show c.593-616_593-615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	4/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(23): Show ATTTATTTATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19060.hp1 HG02165.hp2 NA19060.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0196 a0001c0004t0001g0198 a0001c0004t0001g0196 a0001c0004t0001g0198	2	234	0.0086	30	c.590 others(47): Show c.5902+800_5902+801insATTTATTTTTTTTTTTTTTTTTTTTTTT TT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(23): Show ATTTATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19084.hp2 HG01175.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0015 a0001c0001t0001g0030	2	234	0.0086	30	c.590 others(47): Show c.5902+800_5902+801insATTTTTTTTTTTTTTTTTTTTTTTTTTT TT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183121915	T T	TTTATTAT others(23): Show TTTATTATTATTATTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	402	0.0025	30	c.-25 others(41): Show c.-2543_-2542insTTATTATTATTATTATTATTATTATTATTA		NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding					2527		chr2	TogoVar
NUP54_chr4_76109664_76153397	76110596	A A	AGAACTTG others(23): Show AGAACTTGAACAACAGAAAATCATTATATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	370	0.0027	30	c.47 others(41): Show c.4740_*4769dupCAATATAATGATTTTCTGTTGTTCAAGTTC		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding					4067		chr4	TogoVar
NUP88_chr17_5379833_5424662	5416180	T T	TATATATA others(23): Show TATATATATATATACACACACATACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0164 a0001c0002t0008g0164	1	370	0.0027	30	c.467 others(45): Show c.467+332_467+333insGTGTGTGTATGTGTGTGTATATATATATAT		NUP88	ENSG00000108559.13	transcript	ENST00000573584.6	protein_coding	2/16						chr17	TogoVar
NUP88_chr17_5379833_5424662	5416180	T T	TATATATA others(23): Show TATATATATATATATACACACATACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0162 a0001c0002t0008g0162	1	370	0.0027	30	c.467 others(45): Show c.467+332_467+333insGTGTGTGTATGTGTGTATATATATATATAT		NUP88	ENSG00000108559.13	transcript	ENST00000573584.6	protein_coding	2/16						chr17	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG02083.hp2 HG00609.hp2 HG00741.hp1 HG02083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0003 a0001c0001t0001 a0002c0008t0003	a0001c0001t0001g0051 a0001c0001t0001g0052 a0002c0008t0003g0064 a0001c0001t0001g0051 a0001c0001t0001g0052 a0002c0008t0003g0064	3	342	0.0088	30	c.173 others(49): Show c.1730+1675_1730+1676insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32						chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535556	T T	TCTTTCTT others(23): Show TCTTTCTTTCTTTCTTTCCTTCCTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0221 a0001c0001t0221	a0001c0001t0221g0139 a0001c0001t0221g0139	1	368	0.0027	30	c.21 others(41): Show c.2126_*2127insGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2462		chr16	TogoVar

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