Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUBPL_chr14_31556404_31866224	31666263	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19065.hp1 NA18986.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0174 a0001c0001t0003g0157 a0001c0001t0003g0174	2	268	0.0075	32	c.383 others(49): Show c.383-7092_383-7091insTATATATATATATATATATATATATATT TATT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10			chr14	TogoVar
NUBPL_chr14_31556404_31866224	31739222	A A	ATATATAT others(25): Show ATATATATTATATTCTATATATATATTATATTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01516.hp1 HG01256.hp1 HG01258.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031	3	268	0.0112	32	c.514 others(51): Show c.514-48551_514-48550insTATATTCTATATATATATTATATTCT ATATAT	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(25): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02258.hp1 others(5): Show HG01884.hp2 HG01891.hp1 HG02258.hp1 HG02818.hp2 HG03041.hp1 HG03139.hp2 HG03831.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015	a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 others(5): Show a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0006g0147 a0001c0001t0006g0244 a0001c0001t0015g0018	8	268	0.0299	32	c.514 others(51): Show c.514-27635_514-27634insTGTGTGTGAGAGAGAGAGAGAGAGAG AGAGAG	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(25): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp2 HG02615.hp1 others(1): Show HG00741.hp1 HG01433.hp2 HG02615.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0002g0204	4	268	0.0149	32	c.514 others(51): Show c.514-27635_514-27634insTGTGTGTGTGTGTGAGAGAGAGAGAG AGAGAG	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(25): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp2 HG06807.hp2 others(1): Show HG03486.hp1 HG03579.hp2 HG06807.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0002g0203 a0001c0001t0002g0206 others(1): Show a0001c0001t0001g0067 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0216	4	268	0.0149	32	c.514 others(51): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAG	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(25): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02080.hp2 HG02723.hp1 others(3): Show HG02015.hp2 HG02080.hp2 HG02723.hp1 HG03195.hp1 NA18971.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0098 others(3): Show a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0010g0020 a0001c0001t0010g0022	6	268	0.0224	32	c.514 others(51): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAG	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(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0007 a0001c0001t0026g0007	1	268	0.0037	32	c.514 others(51): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGTGTGAG AGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288882	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18948.hp2 NA19004.hp1 others(1): Show HG03453.hp1 NA18948.hp2 NA19004.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0173 a0001c0001t0002g0179 others(1): Show a0001c0001t0002g0133 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0207	4	360	0.0111	32	c.-1+ others(47): Show c.-1+5977_-1+6008dupCACACACACACACACACACACACACACACA CA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17335135	A A	AATCTCTA others(25): Show AATCTCTATTGCTTAAATTATAAGCAATAGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18985.hp1 NA18939.hp2 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0291 a0002c0002t0001g0297 a0002c0002t0001g0291 a0002c0002t0001g0297	2	360	0.0056	32	c.37 others(43): Show c.3716_*3717insATCTCTATTGCTTAAATTATAAGCAATAGAAT	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding		2925		chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0036 a0003c0003t0003g0036	1	360	0.0028	32	c.273 others(51): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDC_chr1_26916743_26951871	26927187	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	254	0.0039	32	c.159 others(49): Show c.159+3035_159+3036insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	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(25): Show GGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18963.hp1 NA18984.hp2 others(2): Show HG00099.hp1 NA18963.hp1 NA18984.hp2 NA18998.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0020 a0001c0001t0003g0109 a0001c0001t0002g0020 a0001c0001t0003g0109	5	438	0.0114	32	c.797 others(49): Show c.797-1183_797-1182insATATATATATATATATATATATATATAT ATAC	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6			chr5	TogoVar
NUDT3_chr6_34274679_34397669	34297759	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATGTATTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0129 a0001c0001t0038g0129	1	270	0.0037	32	c.211 others(49): Show c.211-2075_211-2074insAAAATACATATATATATATATATATATA TATA	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	270	0.0037	32	c.100 others(49): Show c.100-9227_100-9226insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351216	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18906.hp1 HG02486.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0204 a0001c0001t0022g0205 a0001c0001t0002g0204 a0001c0001t0022g0205	2	270	0.0074	32	c.100 others(49): Show c.100-9245_100-9244insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34354735	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0264 a0001c0001t0083g0264	1	270	0.0037	32	c.100 others(51): Show c.100-12764_100-12763insTATATATATATATATATATATATATA TATATA	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34366473	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0119 a0001c0001t0018g0119	1	270	0.0037	32	c.100 others(51): Show c.100-24533_100-24502dupCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93382674	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0248 a0001c0002t0027g0248	1	414	0.0024	32	c.99+ others(47): Show c.99+4273_99+4274insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUF2_chr1_163316954_163360759	163359848	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0159 a0003c0005t0001g0159	1	400	0.0025	32	c.43 others(43): Show c.4379_*4380insTATATATATATATATATATATATATATATATA	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		4090		chr1	TogoVar
NUFIP2_chr17_29250839_29299148	29276029	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0274 a0001c0001t0015g0274	1	356	0.0028	32	c.200 others(51): Show c.2003-8500_2003-8499insATATATATATATATATATATATATAT ATATAT	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUMA1_chr11_71997864_72085542	72049559	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19078.hp2 NA19011.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0206 a0001c0001t0001g0115 a0001c0001t0001g0206	2	244	0.0082	32	c.-32 others(51): Show c.-32-13585_-32-13584insTATATATATATATATATATATATATA TATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATACATA others(25): Show CATACATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG02280.hp1 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0134 a0003c0003t0004g0135 a0003c0003t0004g0134 a0003c0003t0004g0135	2	276	0.0073	32	c.185 others(51): Show c.1852-1904_1852-1903insATATATATATATATATATATATATGT ATGTAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02895.hp2 NA19082.hp2 HG01106.hp2 HG02895.hp2 NA19082.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0011 a0002c0002 a0003c0011	a0002c0002t0001 a0002c0002t0002 a0003c0011t0009 a0002c0002t0001 a0002c0002t0002 a0003c0011t0009	a0002c0002t0001g0243 a0002c0002t0002g0264 a0003c0011t0009g0138 a0002c0002t0001g0243 a0002c0002t0002g0264 a0003c0011t0009g0138	3	276	0.0109	32	c.185 others(51): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT ATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	300	0.0033	32	c.393 others(49): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(25): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18998.hp2 NA19004.hp1 NA18747.hp1 NA18998.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0289 a0001c0001t0002g0309 a0001c0001t0002g0194 a0001c0001t0002g0289 a0001c0001t0002g0309	3	338	0.0089	32	c.38 others(43): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	296	0.0034	32	c.196 others(49): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(25): Show TTATATATTATATTAATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18968.hp2 NA18973.hp2 others(6): Show NA18943.hp2 NA18968.hp2 NA18973.hp2 NA18980.hp2 NA18994.hp2 NA18997.hp1 NA19055.hp1 NA19064.hp1 NA19084.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0035 a0001c0002 a0006c0035	a0001c0002t0001 a0006c0035t0001 a0001c0002t0001 a0006c0035t0001	a0001c0002t0001g0180 a0001c0002t0001g0240 a0001c0002t0001g0244 others(6): Show a0001c0002t0001g0180 a0001c0002t0001g0240 a0001c0002t0001g0244 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0253 a0001c0002t0001g0277 a0001c0002t0001g0278 a0006c0035t0001g0243	9	352	0.0256	32	c.29- others(45): Show c.29-329_29-328insTAATTATATTAATATATATTATATTAATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210L_chr1_153987690_154160073	154125619	C C	CAGGAAGG others(25): Show CAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02886.hp1 HG01433.hp1 HG02886.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0199 a0003c0004t0001g0200 a0001c0001t0001g0199 a0003c0004t0001g0200	2	290	0.0069	32	c.132 others(49): Show c.1326+703_1326+704insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154125622	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02717.hp2 NA18522.hp1 HG00544.hp2 HG02717.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0255 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0255	3	290	0.0103	32	c.132 others(49): Show c.1326+669_1326+700dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(25): Show ATTTATTTATTTATTTATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	234	0.0043	32	c.590 others(49): Show c.5902+800_5902+801insATTTATTTATTTATTTTTTTTTTTTTTT TTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	234	0.0043	32	c.590 others(49): Show c.5902+822_5902+823insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP54_chr4_76109664_76153397	76125619	G G	GGAGGGGG others(25): Show GGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	370	0.0027	32	c.105 others(49): Show c.1057-864_1057-863insTCCCCCTCTCCCCCTCTCCCCCTCTCCC CCTC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP62CL_chrX_107118427_107211433	107204745	A A	ATTATTTA others(25): Show ATTATTTATTTAAATAAATTTTAAATAAATTAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 NA18955.hp1 others(2): Show HG01081.hp1 HG01106.hp1 NA18955.hp1 NA18971.hp1 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0146 a0002c0002t0001g0147 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148	5	280	0.0179	32	c.-92 others(49): Show c.-92+1527_-92+1528insATAATTTATTTAAAATTTATTTAAATAA ATAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107204793	A A	ATTATTTA others(25): Show ATTATTTATTTAAATAAATTTTAAATAAATTAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18906.hp2 HG02055.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0091 a0001c0001t0002g0006 a0001c0001t0002g0091	2	280	0.0071	32	c.-92 others(49): Show c.-92+1479_-92+1480insATAATTTATTTAAAATTTATTTAAATAA ATAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107204869	A A	ATTATTTA others(25): Show ATTATTTATTTAAATAAATTTTAAATAAATTAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	280	0.0036	32	c.-92 others(49): Show c.-92+1403_-92+1404insATAATTTATTTAAAATTTATTTAAATAA ATAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP88_chr17_5379833_5424662	5416180	T T	TATATATA others(25): Show TATATATATATATATATACACACATACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0163 a0001c0002t0008g0163	1	370	0.0027	32	c.467 others(47): Show c.467+332_467+333insGTGTGTGTATGTGTGTATATATATATATAT AT	NUP88	ENSG00000108559.13	transcript	ENST00000573584.6	protein_coding	2/16			chr17	TogoVar
NUP93_chr16_56725129_56855286	56808555	A A	AAAATATA others(25): Show AAAATATATAAATACATTTATATAAATATTTAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp2 HG01981.hp2 others(9): Show HG00438.hp2 HG01884.hp2 HG01981.hp2 HG02615.hp1 HG02622.hp1 HG03225.hp1 NA18906.hp2 NA18966.hp2 NA18977.hp2 NA19062.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0003t0002 a0001c0004t0005	a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0003g0362 others(9): Show a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0003g0362 a0001c0001t0013g0012 a0001c0001t0013g0014 a0001c0001t0014g0217 a0001c0002t0001g0069 a0001c0002t0001g0129 a0001c0003t0002g0259 a0001c0003t0002g0273 a0001c0004t0005g0020 a0001c0004t0005g0040	12	378	0.0318	32	c.489 others(49): Show c.489+2984_489+3015dupTTATAAATATATAAATACATTTATATAA ATAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808584	T T	TTATAAAT others(25): Show TTATAAATATATAAATACATTTATATAAATATC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0001 a0006c0021t0001	a0006c0021t0001g0011 a0006c0021t0001g0011	1	378	0.0027	32	c.489 others(49): Show c.489+2983_489+2984insCTATAAATATATAAATACATTTATATAA ATAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56827044	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0193 a0001c0001t0016g0193	1	378	0.0027	32	c.795 others(49): Show c.795-1908_795-1907insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3724780	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	342	0.0029	32	c.184 others(49): Show c.1847+322_1847+323insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	342	0.0029	32	c.173 others(51): Show c.1730+1675_1730+1676insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535503	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 HG01934.hp2 HG02080.hp1 others(1): Show HG01358.hp1 HG01934.hp2 HG02080.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0094 a0001c0001t0145 a0001c0001t0041 a0001c0001t0094 a0001c0001t0145	a0001c0001t0041g0039 a0001c0001t0094g0091 a0001c0001t0145g0107 a0001c0001t0041g0039 a0001c0001t0094g0091 a0001c0001t0145g0107	4	368	0.0109	32	c.21 others(43): Show c.2148_*2179dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2515		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535536	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0163 a0001c0001t0163	a0001c0001t0163g0192 a0001c0001t0163g0192	1	368	0.0027	32	c.21 others(43): Show c.2146_*2147insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2482		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535548	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0162 a0001c0001t0162	a0001c0001t0162g0111 a0001c0001t0162g0111	1	368	0.0027	32	c.21 others(43): Show c.2134_*2135insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2470		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535552	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01433.hp1 NA19091.hp2 HG00735.hp2 HG01433.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0180 a0001c0001t0225 a0002c0002t0247 a0001c0001t0180 a0001c0001t0225 a0002c0002t0247	a0001c0001t0180g0114 a0001c0001t0225g0121 a0002c0002t0247g0055 a0001c0001t0180g0114 a0001c0001t0225g0121 a0002c0002t0247g0055	3	368	0.0082	32	c.21 others(43): Show c.2130_*2131insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2466		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCCTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0154 a0001c0001t0111g0154	1	368	0.0027	32	c.21 others(43): Show c.2119_*2120insAAAGAAAGAAAGGAAGGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535567	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0094 a0001c0001t0105g0094	1	368	0.0027	32	c.21 others(43): Show c.2115_*2116insAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2451		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02071.hp2 NA18966.hp1 HG00544.hp2 HG02071.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0233 a0001c0001t0234 a0001c0001t0128 a0001c0001t0233 a0001c0001t0234	a0001c0001t0128g0169 a0001c0001t0233g0247 a0001c0001t0234g0248 a0001c0001t0128g0169 a0001c0001t0233g0247 a0001c0001t0234g0248	3	368	0.0082	32	c.21 others(43): Show c.2111_*2112insAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0069 a0001c0001t0071g0069	1	368	0.0027	32	c.21 others(43): Show c.2111_*2112insAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTTCTTTCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0148	a0001c0001t0148g0110 a0001c0001t0148g0110	1	368	0.0027	32	c.21 others(43): Show c.2111_*2112insAAAGAAAGGAAGAAAGAAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar

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