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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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
NRXN3_chr14_78165373_79873291	79049056	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	24	0.0417	-19	c.326 others(40): Show c.3262+60918_3262+60936delAAAAAAAAAAAAAAAATAA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177158274	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	298	0.0034	-19	c.927 others(38): Show c.927+22247_927+22265delCTTTCTTTCTTTCTTTCTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177158277	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0061 a0009c0012t0061	a0009c0012t0061g0140 a0009c0012t0061g0140	1	298	0.0034	-19	c.927 others(38): Show c.927+22248_927+22266delTTTCTTTCTTTCTTTCTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22			chr5	TogoVar
NSD2_chr4_1866393_1987192	1910094	TTTTGGAA others(12): Show TTTTGGAAATCAAAATTTCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0036 a0001c0004t0001g0036	1	130	0.0077	-19	c.760 others(36): Show c.760+5727_760+5745delAAAATTTCCTTTGGAAATC	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1934873	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0011 a0001c0001t0012g0011	1	130	0.0077	-19	c.155 others(36): Show c.1556-269_1556-251delAAAAATATATATATATATA	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1951505	CACACACA others(12): Show CACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20752.hp1 HG03453.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0060 a0001c0001t0001g0033 a0001c0001t0001g0060	2	130	0.0154	-19	c.201 others(36): Show c.2013+304_2013+322delCACACACACACACACACAA	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSMCE2_chr8_125086860_125372120	125170376	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp2 HG02886.hp1 others(1): Show HG00741.hp1 HG01255.hp2 HG02886.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0187	4	244	0.0164	-19	c.265 others(38): Show c.265-11706_265-11688delTTTTTTTTTTTTTTTTTTT	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125256922	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01243.hp1 others(4): Show HG01070.hp1 HG01071.hp2 HG01243.hp1 HG02257.hp2 HG02647.hp2 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0173 a0001c0001t0001g0176 others(4): Show a0001c0001t0001g0065 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0231 a0001c0001t0001g0232	7	244	0.0287	-19	c.418 others(38): Show c.418+74685_418+74703delAAAAAAAAAAAAAAAAAAA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125367509	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	244	0.0041	-19	c.62 others(28): Show c.625_*643delAAAAAAAAAAAAAAAAAAA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding		390		chr8	TogoVar
NSMF_chr9_137442570_137464334	137461874	CCCGAAGA others(12): Show CCCGAAGAACTGGGCGCGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	414	0.0024	-19	c.-27 others(30): Show c.-2791_-2773delACCGCGCCCAGTTCTTCGG	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding		2541		chr9	TogoVar
NSUN2_chr5_6594239_6638044	6622243	TTTTAGGG others(12): Show TTTTAGGGATTCTACACTGC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0160 a0001c0004t0001g0160	1	438	0.0023	-19	c.538 others(34): Show c.538-162_538-144delGCAGTGTAGAATCCCTAAA	NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	5/18			chr5	TogoVar
NSUN5_chr7_73297516_73313826	73311095	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02615.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0003 a0001c0001t0001g0007	2	420	0.0048	-19	c.-23 others(30): Show c.-2324_-2306delTTTTTTTTTTTTTTTTTTT	NSUN5	ENSG00000130305.17	transcript	ENST00000438747.7	protein_coding		2270		chr7	TogoVar
NSUN7_chr4_40744955_40816184	40757579	ATATATAT others(12): Show ATATATATACACATTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02723.hp1 others(1): Show HG02145.hp2 HG02257.hp2 HG02723.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148	4	392	0.0102	-19	c.299 others(36): Show c.299-2846_299-2828delCACATTGTGTGTATATATA	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39652030	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp1 HG03195.hp2 HG02818.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0139 a0001c0001t0035g0140 a0001c0001t0035g0139 a0001c0001t0035g0140	2	326	0.0061	-19	c.70 others(30): Show c.7072_*7090delTTTTTTTTTTTTTTTTTTT	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	6/6	7072		chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39663465	CCAGGGTC others(12): Show CCAGGGTCAACCCTGGGCTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0107 a0001c0002t0062g0107	1	326	0.0031	-19	c.434 others(32): Show c.434-50_434-32delAAGCCCAGGGTTGACCCTG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1B_chr2_18557871_18594569	18562218	TTCATGTG others(12): Show TTCATGTGTGACCCTCAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02258.hp1 HG02486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0050 a0001c0007t0001g0050	2	392	0.0051	-19	c.15 others(30): Show c.1559_*1577delCCCTGAGGGTCACACATGA	NT5C1B	ENSG00000185013.17	transcript	ENST00000304081.9	protein_coding		652		chr2	TogoVar
NT5C2_chr10_103083038_103198272	103177646	AGAACAGC others(12): Show AGAACAGCTAGAAATACAGG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	340	0.0029	-19	c.-24 others(36): Show c.-24-2683_-24-2665delCCTGTATTTCTAGCTGTTC	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	2/18			chr10	TogoVar
NTF4_chr19_49056128_49069818	49060036	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 NA19043.hp2 HG00735.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	396	0.0051	-19	c.13 others(30): Show c.1310_*1328delTTTTTTTTTTTTTTTTTTT	NTF4	ENSG00000225950.9	transcript	ENST00000593537.2	protein_coding		1091		chr19	TogoVar
NTM_chr11_131365615_132341822	131432839	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01169.hp2 others(2): Show HG01081.hp1 HG01081.hp2 HG01169.hp2 HG01515.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0036 a0001c0001t0002g0018 a0001c0001t0006g0034 others(2): Show a0001c0001t0001g0036 a0001c0001t0002g0018 a0001c0001t0006g0034 a0001c0002t0001g0077 a0001c0002t0005g0039	5	86	0.0581	-19	c.82+ others(36): Show c.82+61965_82+61983delTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131440816	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0011 a0001c0001t0007 a0002c0003t0011	a0001c0001t0007g0007 a0002c0003t0011g0052 a0001c0001t0007g0007 a0002c0003t0011g0052	2	86	0.0233	-19	c.82+ others(36): Show c.82+69958_82+69976delAAAAAAAAAAAAAAAAAAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131789546	AAAAGAAG others(12): Show AAAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	86	0.0116	-19	c.83- others(38): Show c.83-122015_83-121997delAGAAGAAGAAGAAGAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873543	TATATACA others(12): Show TATATACATATATATATACC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	86	0.0116	-19	c.83- others(36): Show c.83-38020_83-38002delATATACATATATATATACC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
NTN1_chr17_9016510_9249000	9106467	CCCTTCCT others(12): Show CCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	258	0.0039	-19	c.101 others(40): Show c.1019-56345_1019-56327delCCTTCCTTCCTTCCTTCCT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN1_chr17_9016510_9249000	9119586	ACTCCTGG others(12): Show ACTCCTGGGCGTAAATGATC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp2 HG01358.hp1 others(2): Show HG00735.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0001 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0186 a0001c0001t0008g0124 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0186 a0001c0001t0008g0124 a0001c0001t0016g0117 a0001c0001t0016g0121	5	258	0.0194	-19	c.101 others(40): Show c.1019-43220_1019-43202delGGCGTAAATGATCCTCCTG	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9233138	GCCCACCT others(12): Show GCCCACCTCGAGCAGCCCAT	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	258	0.0039	-19	c.148 others(38): Show c.1487-6501_1487-6483delCCCACCTCGAGCAGCCCAT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	6/6			chr17	TogoVar
NTRK3_chr15_87854751_88261739	88197094	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0123 a0001c0002t0012g0123	1	134	0.0075	-19	c.249 others(38): Show c.249-12814_249-12796delTTTTTTTTTTTTTTTTTTT	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	3/19			chr15	TogoVar
NTSR1_chr20_62703836_62767771	62767586	AAAGAGAG others(12): Show AAAGAGAGAGAGAGAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	316	0.0032	-19	c.73 others(30): Show c.7320_*7338delAAGAGAGAGAGAGAGAAAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4816		chr20	TogoVar
NUBPL_chr14_31556404_31866224	31575014	GTTTCTTC others(12): Show GTTTCTTCTGTTATTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02004.hp2 HG02572.hp2 others(3): Show HG01433.hp1 HG02004.hp2 HG02572.hp2 HG02723.hp2 HG03209.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0022 a0003c0006t0009	a0001c0001t0002g0234 a0001c0001t0006g0014 a0001c0001t0008g0015 others(3): Show a0001c0001t0002g0234 a0001c0001t0006g0014 a0001c0001t0008g0015 a0001c0001t0009g0011 a0001c0001t0022g0013 a0003c0006t0009g0012	6	268	0.0224	-19	c.291 others(36): Show c.291+9970_291+9988delCTTCTGTTATTTCTTTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31700642	GCCGGCCA others(12): Show GCCGGCCAGTGCCACTGGCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG03516.hp2 HG02055.hp2 HG02717.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0013g0268 a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0013g0268	3	268	0.0112	-19	c.513 others(38): Show c.513+27073_513+27091delCCAGTGCCACTGGCCCCGG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31841917	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	268	0.0037	-19	c.694 others(36): Show c.694-4541_694-4523delTTTTTTTTTTTTTTTTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17312511	CTCTGCCT others(12): Show CTCTGCCTCAGCCTCCTGAG	C C	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	360	0.0028	-19	c.912 others(34): Show c.912+393_912+411delCTGCCTCAGCCTCCTGAGT	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDC_chr1_26916743_26951871	26936157	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19091.hp2 NA18943.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0181 a0001c0001t0006g0182	2	254	0.0079	-19	c.160 others(36): Show c.160-5298_160-5280delATATATATTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDT14_chr14_105167939_105186312	105181227	CGGGGGCC others(12): Show CGGGGGCCGCGAGCTCTGCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0090 a0001c0001t0008g0090	1	398	0.0025	-19	c.-37 others(26): Show c.-37_-19delCGCAGAGCTCGCGGCCCCC	NUDT14	ENSG00000183828.15	transcript	ENST00000392568.7	protein_coding	1/5	19		chr14	TogoVar
NUDT2_chr9_34324569_34348699	34333565	ATGCAGTG others(12): Show ATGCAGTGAGCTCTTGAGGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	436	0.0023	-19	c.-26 others(38): Show c.-264-2652_-264-2634delCTTGAGGCTGCAGTGAGCT	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT2_chr9_34324569_34348699	34346403	TATATATA others(12): Show TATATATATATATATATGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	436	0.0023	-19	c.29 others(30): Show c.2964_*2982delATATATATATATATATGTA	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2705		chr9	TogoVar
NUDT3_chr6_34274679_34397669	34308119	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp2 HG00733.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0131 a0001c0001t0027g0132 a0001c0001t0027g0131 a0001c0001t0027g0132	2	270	0.0074	-19	c.211 others(38): Show c.211-12453_211-12435delTTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93406275	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0336 a0001c0001t0067g0336	1	414	0.0024	-19	c.69 others(30): Show c.6908_*6926delAAAAAAAAAAAAAAAAAAA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	6908	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUMBL_chr19_40660905_40695651	40666139	GTTTTTTT others(12): Show GTTTTTTTTTTTTTGTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00738.hp1 others(31): Show HG00099.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01884.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0026 a0009c0013t0005	a0001c0001t0005g0024 a0001c0001t0005g0050 a0001c0001t0005g0051 others(23): Show a0001c0001t0005g0024 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0059 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0007g0043 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0001t0007g0284 a0001c0001t0008g0015 a0001c0001t0008g0130 a0001c0001t0008g0265 a0001c0001t0008g0266 a0001c0001t0012g0246 a0001c0001t0012g0247 a0001c0001t0026g0218 a0009c0013t0005g0273	34	414	0.0821	-19	c.13 others(30): Show c.1310_*1328delAAAAACAAAAAAAAAAAAA	NUMBL	ENSG00000105245.9	transcript	ENST00000252891.8	protein_coding	10/10	1310		chr19	TogoVar
NUMB_chr14_73270216_73463546	73352505	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	322	0.0031	-19	c.126 others(36): Show c.126+3102_126+3120delTATATATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73445354	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	322	0.0031	-19	c.-23 others(40): Show c.-233+13120_-233+13138delTTTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73459607	AGCAACTT others(12): Show AGCAACTTTCTAATAAGCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA18969.hp1 NA18995.hp1 others(2): Show HG04228.hp1 NA18969.hp1 NA18995.hp1 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 others(2): Show a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306	5	322	0.0155	-19	c.-13 others(30): Show c.-1366_-1348delCCGCTTATTAGAAAGTTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding		1062		chr14	TogoVar
NUP153_chr6_17610037_17711925	17630774	GAGGAGAG others(12): Show GAGGAGAGAAGAGAGAAGAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0006 a0002c0002t0004g0006	1	316	0.0032	-19	c.266 others(38): Show c.2660-1254_2660-1236delGTCTTCTCTCTTCTCTCCT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	17/21			chr6	TogoVar
NUP153_chr6_17610037_17711925	17655071	ATATACTG others(12): Show ATATACTGCTACATGTTTTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0001 a0016c0020t0001	a0016c0020t0001g0195 a0016c0020t0001g0195	1	316	0.0032	-19	c.139 others(38): Show c.1396-5790_1396-5772delCAAAACATGTAGCAGTATA	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	11/21			chr6	TogoVar
NUP160_chr11_47773118_47853350	47782298	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	338	0.0030	-19	c.401 others(36): Show c.4014+756_4014+774delATATATATATATATTTTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782300	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0013	1	338	0.0030	-19	c.401 others(36): Show c.4014+754_4014+772delATATATATATATATATTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782302	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0078 a0008c0012t0001g0078	1	338	0.0030	-19	c.401 others(36): Show c.4014+752_4014+770delATATATATATATATATATT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782304	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19062.hp1 HG02056.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0226 a0001c0001t0001g0123 a0001c0001t0001g0226	2	338	0.0059	-19	c.401 others(36): Show c.4014+750_4014+768delATATATATATATATATATA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47793722	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	338	0.0030	-19	c.318 others(36): Show c.3188-795_3188-777delAAAAAAAAAAAAAAAAAAA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	27/35			chr11	TogoVar
NUP210_chr3_13311235_13425322	13313200	ACTGTTAG others(12): Show ACTGTTAGCCAGGATGGTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18946.hp2 NA18956.hp1 others(2): Show NA18939.hp2 NA18946.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1	a0005 a0013 a0005 a0013	a0005c0003 a0013c0031 a0005c0003 a0013c0031	a0005c0003t0001 a0013c0031t0001 a0005c0003t0001 a0013c0031t0001	a0005c0003t0001g0238 a0005c0003t0001g0242 a0005c0003t0001g0268 others(2): Show a0005c0003t0001g0238 a0005c0003t0001g0242 a0005c0003t0001g0268 a0005c0003t0001g0313 a0013c0031t0001g0093	5	326	0.0153	-19	c.44 others(30): Show c.4462_*4480delAGACCATCCTGGCTAACAG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		3034		chr3	TogoVar
NUP58_chr13_25296625_25347421	25304502	ATATATAT others(12): Show ATATATATATATATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(12): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02615.hp2 HG02683.hp1 HG03654.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0003 a0001c0001t0003g0024 a0001c0001t0003g0172 others(7): Show a0001c0001t0003g0003 a0001c0001t0003g0024 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0009g0003	15	350	0.0429	-19	c.107 others(36): Show c.107+2624_107+2642delATATATATATATATGTATT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr13	TogoVar

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