JoGo: Joint Open Genome and Omics Platform

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
NTRK3_chr15_87854751_88261739	88078132	CCTTGAAC others(10): Show CCTTGAACAGATGGGTCT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG02280.hp1 HG01258.hp2 HG01346.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0001 a0001c0004t0009 a0001c0001t0006 a0001c0004t0001 a0001c0004t0009	a0001c0001t0006g0080 a0001c0004t0001g0023 a0001c0004t0009g0032 a0001c0001t0006g0080 a0001c0004t0001g0023 a0001c0004t0009g0032	3	134	0.0224	-17	c.139 others(38): Show c.1397-45104_1397-45088delAGACCCATCTGTTCAAG	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	13/19			chr15	TogoVar
NTSR1_chr20_62703836_62767771	62709001	TCCGGAGG others(10): Show TCCGGAGGAGAGCGGAGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0197 a0001c0001t0022g0197	1	316	0.0032	-17	c.-20 others(26): Show c.-200_-184delGAGAGCGGAGCCCGGAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/4	184	INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767679	GAAGGAAG others(10): Show GAAGGAAGGAAGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	316	0.0032	-17	c.74 others(28): Show c.7413_*7429delAAGGAAGGAAGGAAGGA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4909		chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767697	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0023 a0001c0001t0001 a0001c0003t0023	a0001c0001t0001g0165 a0001c0003t0023g0230 a0001c0001t0001g0165 a0001c0003t0023g0230	2	316	0.0063	-17	c.74 others(28): Show c.7431_*7447delGGAAGGAAGGAAGGAAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4927		chr20	TogoVar
NUB1_chr7_151336812_151383449	151344180	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01257.hp1 NA19056.hp1 HG00609.hp2 HG01257.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138	3	418	0.0072	-17	c.-2- others(32): Show c.-2-1151_-2-1135delAAAAAAAAAAAAAAAAA	NUB1	ENSG00000013374.17	transcript	ENST00000568733.6	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUBPL_chr14_31556404_31866224	31853067	GTTGTGTT others(10): Show GTTGTGTTGTGTTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02647.hp2 others(3): Show HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0192 a0001c0001t0002g0204 a0001c0001t0002g0205 others(3): Show a0001c0001t0002g0192 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0245 a0001c0001t0002g0256 a0001c0001t0008g0222	6	268	0.0224	-17	c.897 others(34): Show c.897+2871_897+2887delGTTGTGTTGTGTTTTGT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUDCD1_chr8_109235919_109339087	109270061	CGGGGGCG others(10): Show CGGGGGCGGGGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0338 a0003c0003t0004g0338	1	360	0.0028	-17	c.129 others(34): Show c.1299+927_1299+943delCCCCCCCCCCCGCCCCC	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	8/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109337689	GTCAGGAG others(10): Show GTCAGGAGATTGAGACTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG06807.hp1 HG02615.hp2 HG02818.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0005 a0003c0003t0004 a0003c0003t0005	a0003c0003t0004g0337 a0003c0003t0005g0001 a0003c0003t0005g0022 a0003c0003t0004g0337 a0003c0003t0005g0001 a0003c0003t0005g0022	3	360	0.0083	-17	c.-36 others(28): Show c.-3696_-3680delTAGTCTCAATCTCCTGA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		3603		chr8	TogoVar
NUDCD3_chr7_44374119_44495658	44412926	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp1 HG02922.hp2 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0235 a0002c0005t0012g0236 a0002c0005t0012g0235 a0002c0005t0012g0236	2	238	0.0084	-17	c.643 others(34): Show c.643-8360_643-8344delCTTTTTTTTTTTTTTTT	NUDCD3	ENSG00000015676.18	transcript	ENST00000355451.8	protein_coding	3/5			chr7	TogoVar
NUDC_chr1_26916743_26951871	26936159	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	2	254	0.0079	-17	c.160 others(34): Show c.160-5296_160-5280delATATATTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDC_chr1_26916743_26951871	26936161	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03041.hp2 NA20805.hp2 HG00280.hp1 HG03041.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0237 a0001c0001t0004g0243 a0001c0001t0004g0244	3	254	0.0118	-17	c.160 others(34): Show c.160-5294_160-5278delATATTTTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDC_chr1_26916743_26951871	26936163	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01516.hp2 HG03017.hp2 HG01070.hp1 HG01516.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0248 a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0248	3	254	0.0118	-17	c.160 others(34): Show c.160-5292_160-5276delATTTTTTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDC_chr1_26916743_26951871	26936165	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	254	0.0039	-17	c.160 others(34): Show c.160-5267_160-5251delTTTTTTTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDT3_chr6_34274679_34397669	34302658	GGAGGCGG others(10): Show GGAGGCGGAGATTGCAGT	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA20905.hp1 NA18957.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0267 a0001c0001t0017g0268 a0001c0001t0017g0267 a0001c0001t0017g0268	2	270	0.0074	-17	c.211 others(34): Show c.211-6990_211-6974delACTGCAATCTCCGCCTC	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34308119	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp1 HG02615.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0010 a0001c0001t0011	a0001c0001t0010g0096 a0001c0001t0011g0105 a0001c0001t0010g0096 a0001c0001t0011g0105	2	270	0.0074	-17	c.211 others(36): Show c.211-12451_211-12435delTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUF2_chr1_163316954_163360759	163356617	AAATTTCA others(10): Show AAATTTCATGCATACTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	400	0.0025	-17	c.11 others(28): Show c.1149_*1165delAATTTCATGCATACTTT	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		859		chr1	TogoVar
NUF2_chr1_163316954_163360759	163357924	ATCTAGAC others(10): Show ATCTAGACTTTCTCACCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19064.hp2 NA19074.hp2 NA19075.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005 a0007c0010 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 a0003c0005t0001 a0007c0010t0001 a0008c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(145): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0004g0054 a0001c0001t0005g0071 a0001c0002t0001g0010 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0043 a0001c0002t0001g0047 a0001c0002t0001g0156 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0002c0003t0001g0006 a0002c0003t0001g0040 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0157 a0002c0004t0001g0023 a0002c0004t0001g0024 a0002c0004t0001g0025 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0146 a0002c0004t0001g0158 a0003c0005t0001g0159 a0003c0005t0001g0160 a0003c0005t0001g0161 a0003c0005t0001g0162 a0003c0005t0001g0163 a0003c0005t0001g0164 a0003c0005t0001g0165 a0003c0005t0001g0178 a0007c0010t0001g0010 a0008c0011t0001g0186	263	400	0.6575	-17	c.24 others(28): Show c.2456_*2472delTCTAGACTTTCTCACCT	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		2166		chr1	TogoVar
NUMB_chr14_73270216_73463546	73352507	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	322	0.0031	-17	c.126 others(34): Show c.126+3102_126+3118delTATATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352511	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	322	0.0031	-17	c.126 others(34): Show c.126+3098_126+3114delTATATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73445354	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG04204.hp2 NA18978.hp1 others(1): Show HG02109.hp2 HG04204.hp2 NA18978.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0298 a0001c0001t0002g0124 a0001c0001t0002g0150 others(1): Show a0001c0001t0001g0298 a0001c0001t0002g0124 a0001c0001t0002g0150 a0001c0001t0002g0156	4	322	0.0124	-17	c.-23 others(38): Show c.-233+13122_-233+13138delTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12			chr14	TogoVar
NUP153_chr6_17610037_17711925	17615672	CTCTAATC others(10): Show CTCTAATCTATACAGAAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 NA18966.hp1 NA18984.hp2 others(1): Show HG02165.hp1 NA18966.hp1 NA18984.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0021 a0002c0002t0005 a0002c0002t0021	a0002c0002t0005g0227 a0002c0002t0005g0235 a0002c0002t0005g0242 others(1): Show a0002c0002t0005g0227 a0002c0002t0005g0235 a0002c0002t0005g0242 a0002c0002t0021g0315	4	316	0.0127	-17	c.40 others(26): Show c.408_*424delATTCTGTATAGATTAGA	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	22/22	408		chr6	TogoVar
NUP153_chr6_17610037_17711925	17630702	CGGGAGAC others(10): Show CGGGAGACGAGAGGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	316	0.0032	-17	c.266 others(36): Show c.2660-1180_2660-1164delCTCCCCTCTCGTCTCCC	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	17/21			chr6	TogoVar
NUP155_chr5_37283137_37376106	37318498	CATCTGAA others(10): Show CATCTGAAATGTCCCCAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00735.hp2 others(20): Show HG00099.hp1 HG00408.hp2 HG00735.hp2 HG01884.hp1 HG02145.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02735.hp2 HG02970.hp2 HG03017.hp1 HG03453.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18954.hp1 NA18984.hp2 NA19000.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0020 a0001c0002t0023 others(8): Show a0001c0002t0006 a0001c0002t0020 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0054	a0001c0002t0006g0272 a0001c0002t0006g0277 a0001c0002t0006g0278 others(20): Show a0001c0002t0006g0272 a0001c0002t0006g0277 a0001c0002t0006g0278 a0001c0002t0006g0282 a0001c0002t0006g0283 a0001c0002t0006g0284 a0001c0002t0006g0285 a0001c0002t0006g0286 a0001c0002t0006g0287 a0001c0002t0020g0271 a0001c0002t0020g0281 a0001c0002t0020g0289 a0001c0002t0023g0031 a0001c0002t0024g0032 a0001c0002t0024g0033 a0001c0002t0025g0273 a0001c0002t0025g0279 a0001c0002t0045g0292 a0001c0002t0046g0291 a0001c0002t0047g0280 a0001c0002t0048g0288 a0001c0002t0049g0275 a0001c0002t0054g0276	23	300	0.0767	-17	c.220 others(34): Show c.2208-430_2208-414delTTGGGGACATTTCAGAT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	20/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47782304	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	338	0.0030	-17	c.401 others(34): Show c.4014+752_4014+768delATATATATATATATATA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47793722	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp1 HG02897.hp1 HG00639.hp1 HG02896.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0120 a0001c0001t0001g0313 a0002c0002t0001g0087 a0001c0001t0001g0120 a0001c0001t0001g0313 a0002c0002t0001g0087	3	338	0.0089	-17	c.318 others(34): Show c.3188-793_3188-777delAAAAAAAAAAAAAAAAA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	27/35			chr11	TogoVar
NUP210L_chr1_153987690_154160073	154125752	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02896.hp2 others(3): Show HG02257.hp1 HG02630.hp1 HG02896.hp2 HG03041.hp1 HG03486.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0029 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0029 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0099	6	290	0.0207	-17	c.132 others(34): Show c.1326+554_1326+570delAAAAAAAAAAAAAAAAA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210_chr3_13311235_13425322	13350462	CAAAACAA others(10): Show CAAAACAAAACAAAACAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0289 a0002c0002t0004g0289	1	326	0.0031	-17	c.283 others(36): Show c.2835+1400_2835+1416delTTGTTTTGTTTTGTTTT	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	20/39			chr3	TogoVar
NUP58_chr13_25296625_25347421	25304504	ATATATAT others(10): Show ATATATATATATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	350	0.0029	-17	c.107 others(34): Show c.107+2626_107+2642delATATATATATATGTATT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP62_chr19_49901825_49934504	49918899	GGGGGGGG others(10): Show GGGGGGGGGGCGGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03834.hp2 HG03239.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0276 a0001c0001t0009g0277 a0001c0001t0009g0276 a0001c0001t0009g0277	2	416	0.0048	-17	c.-78 others(34): Show c.-78+8778_-78+8794delACACCCCGCCCCCCCCC	NUP62	ENSG00000213024.13	transcript	ENST00000352066.8	protein_coding	2/2			chr19	TogoVar
NUP85_chr17_75200679_75240758	75202792	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0027 a0003c0013t0001g0027	1	276	0.0036	-17	c.-29 others(28): Show c.-2969_-2953delTTTTTTTTTTTTTTTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding		2886		chr17	TogoVar
NUP85_chr17_75200679_75240758	75212247	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp1 HG03486.hp1 HG02886.hp2 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0188 a0001c0006t0001g0189 a0001c0006t0001g0190 a0001c0006t0001g0188 a0001c0006t0001g0189 a0001c0006t0001g0190	3	276	0.0109	-17	c.361 others(32): Show c.361+208_361+224delTTTTTTTTTTTTTTTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
NUP85_chr17_75200679_75240758	75220261	ACTACAGG others(10): Show ACTACAGGCGCGCGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00597.hp1 others(29): Show HG00140.hp1 HG00544.hp1 HG00597.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02015.hp2 HG02129.hp1 HG02135.hp1 HG02698.hp2 HG03710.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp1 NA18982.hp1 NA18989.hp1 NA18990.hp2 NA19068.hp2 NA19090.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0002 a0001c0003t0002 a0001c0005t0002	a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0174 others(29): Show a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0005t0002g0166 a0001c0005t0002g0168 a0001c0005t0002g0169 a0001c0005t0002g0170 a0001c0005t0002g0171 a0001c0005t0002g0186 a0001c0005t0002g0208 a0001c0005t0002g0209	32	276	0.1159	-17	c.597 others(34): Show c.597+1957_597+1973delTACAGGCGCGCGTCACC	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
NUP98_chr11_3670019_3802554	3702324	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	342	0.0029	-17	c.351 others(34): Show c.3512+122_3512+138delAGAGAGAGAGAGAGAGA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3702326	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp1 HG03516.hp1 HG02970.hp2 HG03098.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0240 a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0240	3	342	0.0088	-17	c.351 others(34): Show c.3512+120_3512+136delAGAGAGAGAGAGAGAGA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729543	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	342	0.0029	-17	c.173 others(36): Show c.1730+1831_1730+1847delTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3780546	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG02559.hp1 others(4): Show HG00642.hp1 HG01433.hp2 HG02559.hp1 HG02622.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0001c0001t0008 a0005c0010t0001 a0001c0001t0001 a0001c0001t0008 a0005c0010t0001	a0001c0001t0001g0068 a0001c0001t0001g0324 a0001c0001t0001g0335 others(4): Show a0001c0001t0001g0068 a0001c0001t0001g0324 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0008g0325 a0005c0010t0001g0338 a0005c0010t0001g0339	7	342	0.0205	-17	c.77- others(32): Show c.77-1306_77-1290delCTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	2/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28530579	TATTTCTT others(10): Show TATTTCTTTTTACAGTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00735.hp2 HG01074.hp2 others(34): Show HG00609.hp1 HG00735.hp2 HG01074.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01978.hp2 HG02004.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02293.hp1 HG03491.hp2 HG03492.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp1 NA18961.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18987.hp2 NA18991.hp2 NA18994.hp2 NA19005.hp2 NA19077.hp2 NA19080.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 others(28): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0097 a0001c0001t0099 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0115 a0001c0001t0116 a0001c0001t0129 a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0162 a0001c0001t0179 a0001c0001t0180 a0001c0001t0181 a0001c0001t0182 a0001c0001t0209 a0001c0001t0211 a0001c0001t0225 a0002c0002t0210 a0002c0002t0247	a0001c0001t0017g0014 a0001c0001t0018g0015 a0001c0001t0019g0016 others(28): Show a0001c0001t0017g0014 a0001c0001t0018g0015 a0001c0001t0019g0016 a0001c0001t0097g0092 a0001c0001t0099g0093 a0001c0001t0105g0094 a0001c0001t0106g0095 a0001c0001t0107g0096 a0001c0001t0108g0097 a0001c0001t0115g0098 a0001c0001t0116g0099 a0001c0001t0129g0100 a0001c0001t0130g0101 a0001c0001t0132g0102 a0001c0001t0133g0103 a0001c0001t0134g0104 a0001c0001t0135g0105 a0001c0001t0144g0106 a0001c0001t0145g0107 a0001c0001t0146g0108 a0001c0001t0147g0109 a0001c0001t0162g0111 a0001c0001t0179g0113 a0001c0001t0180g0114 a0001c0001t0181g0115 a0001c0001t0182g0116 a0001c0001t0209g0117 a0001c0001t0211g0118 a0001c0001t0225g0121 a0002c0002t0210g0054 a0002c0002t0247g0055	37	368	0.1005	-17	c.70 others(28): Show c.7087_*7103delTAACTGTAAAAAGAAAT	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding		2128		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56118394	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02572.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0142 a0001c0002t0001g0062 a0001c0002t0001g0142	2	448	0.0045	-17	c.-20 others(28): Show c.-2097_-2081delAAAAAAAAAAAAAAAAA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding		1978		chr7	TogoVar
NUSAP1_chr15_41327881_41386046	41346826	CAAAAATA others(10): Show CAAAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02280.hp1 others(10): Show HG01884.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0172 a0002c0002t0001g0009 a0002c0002t0001g0239 others(9): Show a0001c0001t0001g0172 a0002c0002t0001g0009 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0278 a0002c0002t0001g0279	13	292	0.0445	-17	c.163 others(34): Show c.163-2271_163-2255delAAAAATAAATAAATAAA	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding	2/10			chr15	TogoVar
NUTM2G_chr9_96923843_96944416	96930872	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02451.hp2 HG00738.hp1 HG02451.hp2	a0003 a0013 a0003 a0013	a0003c0003 a0013c0035 a0003c0003 a0013c0035	a0003c0003t0001 a0013c0035t0001 a0003c0003t0001 a0013c0035t0001	a0003c0003t0001g0113 a0013c0035t0001g0158 a0003c0003t0001g0113 a0013c0035t0001g0158	2	374	0.0054	-17	c.17- others(30): Show c.17-826_17-810delTTTTTTTTTTTTTTTTT	NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
NVL_chr1_224222345_224335172	224331442	AACTCCCC others(10): Show AACTCCCCATTCCTCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	284	0.0035	-17	c.-13 others(28): Show c.-1332_-1316delAGGGAGGAATGGGGAGT	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding		1271		chr1	TogoVar
NWD1_chr19_16714847_16822953	16777580	GGGAGGGG others(10): Show GGGAGGGGAGGGGAAAGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02280.hp2 others(13): Show HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0008 a0011 a0014 others(4): Show a0008 a0011 a0014 a0033 a0039 a0041 a0042	a0008c0010 a0011c0011 a0014c0025 others(4): Show a0008c0010 a0011c0011 a0014c0025 a0033c0052 a0039c0057 a0041c0065 a0042c0066	a0008c0010t0002 a0008c0010t0010 a0008c0010t0047 others(8): Show a0008c0010t0002 a0008c0010t0010 a0008c0010t0047 a0011c0011t0001 a0011c0011t0002 a0011c0011t0011 a0014c0025t0002 a0033c0052t0001 a0039c0057t0026 a0041c0065t0032 a0042c0066t0008	a0008c0010t0002g0114 a0008c0010t0010g0131 a0008c0010t0010g0276 others(13): Show a0008c0010t0002g0114 a0008c0010t0010g0131 a0008c0010t0010g0276 a0008c0010t0010g0278 a0008c0010t0010g0284 a0008c0010t0047g0005 a0011c0011t0001g0247 a0011c0011t0002g0022 a0011c0011t0011g0017 a0011c0011t0011g0024 a0014c0025t0002g0048 a0014c0025t0002g0049 a0033c0052t0001g0254 a0039c0057t0026g0202 a0041c0065t0032g0166 a0042c0066t0008g0264	16	300	0.0533	-17	c.260 others(36): Show c.2609-1746_2609-1730delTGGAGGGGAGGGGAAAG	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD2_chr4_37239743_37454463	37244959	GCCGCCTG others(10): Show GCCGCCTGCTGAGATCGA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0018 a0001c0019t0018	a0001c0019t0018g0294 a0001c0019t0018g0294	1	296	0.0034	-17	c.-96 others(24): Show c.-96_-80delATCGACCGCCTGCTGAG	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	1/7	80	INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37265904	CCATTATT others(10): Show CCATTATTTAGCTTACCA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA21309.hp1 NA21309.hp2 HG01496.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0017 a0001c0001 a0002c0017	a0001c0001t0001 a0002c0017t0006 a0001c0001t0001 a0002c0017t0006	a0001c0001t0001g0030 a0001c0001t0001g0239 a0002c0017t0006g0200 a0001c0001t0001g0030 a0001c0001t0001g0239 a0002c0017t0006g0200	3	296	0.0101	-17	c.151 others(36): Show c.151+20703_151+20719delACATTATTTAGCTTACC	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF2B_chrX_102355395_102445008	102412537	GAAGAAGA others(10): Show GAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	54	0.0185	-17	c.-54 others(36): Show c.-54+25999_-54+26015delTTCTTCTTCTTCTTCTT	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar
NXF2_chrX_102242167_102331722	102305885	CGGGAGGG others(10): Show CGGGAGGGTGGGGGGGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01106.hp2 others(1): Show HG00280.hp2 HG00738.hp1 HG01106.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0032 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033	4	38	0.1053	-17	c.-53 others(34): Show c.-53-1126_-53-1110delGTGGGGAGGGTGGGGGG	NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
NXNL2_chr9_88530178_88549973	88548339	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02129.hp1 others(8): Show HG02071.hp1 HG02071.hp2 HG02129.hp1 NA18944.hp2 NA18953.hp2 NA18957.hp1 NA18968.hp1 NA18990.hp1 NA19009.hp1 NA19063.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0004g0017 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0004g0017 a0001c0001t0004g0076 a0001c0001t0004g0078 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0129	11	336	0.0327	-17	c.37 others(28): Show c.3793_*3809delAAAAAAAAAAAAAAAAA	NXNL2	ENSG00000130045.17	transcript	ENST00000375854.8	protein_coding		3367		chr9	TogoVar
NXN_chr17_794310_984776	894994	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(64): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18973.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19066.hp1 NA19088.hp1 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028 a0001c0001t0030 a0001c0006t0005	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0046 others(64): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0166 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0169 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0084 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0130 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0193 a0001c0001t0003g0208 a0001c0001t0004g0096 a0001c0001t0004g0129 a0001c0001t0004g0152 a0001c0001t0004g0155 a0001c0001t0006g0123 a0001c0001t0006g0168 a0001c0001t0008g0176 a0001c0001t0010g0003 a0001c0001t0014g0109 a0001c0001t0014g0113 a0001c0001t0016g0001 a0001c0001t0022g0151 a0001c0001t0028g0091 a0001c0001t0030g0237 a0001c0006t0005g0080	67	242	0.2769	-17	c.361 others(36): Show c.361-68933_361-68917delAAAAAAAAAAAAAAAAA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	909098	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(108): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18973.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0002t0004 a0001c0002t0032 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0010t0006 a0001c0011t0004 a0003c0012t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0025 others(108): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0160 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0020 a0001c0001t0003g0028 a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0084 a0001c0001t0003g0097 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0143 a0001c0001t0003g0157 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0193 a0001c0001t0003g0198 a0001c0001t0003g0208 a0001c0001t0003g0227 a0001c0001t0004g0096 a0001c0001t0004g0129 a0001c0001t0004g0152 a0001c0001t0004g0155 a0001c0001t0005g0007 a0001c0001t0005g0032 a0001c0001t0005g0074 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0123 a0001c0001t0006g0156 a0001c0001t0006g0168 a0001c0001t0007g0040 a0001c0001t0008g0176 a0001c0001t0008g0192 a0001c0001t0010g0003 a0001c0001t0010g0006 a0001c0001t0011g0013 a0001c0001t0014g0109 a0001c0001t0014g0113 a0001c0001t0019g0004 a0001c0001t0020g0164 a0001c0001t0021g0019 a0001c0001t0022g0151 a0001c0001t0024g0011 a0001c0001t0025g0200 a0001c0001t0026g0173 a0001c0001t0027g0010 a0001c0001t0028g0091 a0001c0001t0029g0134 a0001c0001t0030g0237 a0001c0001t0033g0241 a0001c0002t0004g0016 a0001c0002t0032g0242 a0001c0003t0001g0042 a0001c0003t0001g0223 a0001c0004t0001g0235 a0001c0007t0001g0089 a0001c0010t0006g0159 a0001c0011t0004g0234 a0003c0012t0001g0236	111	242	0.4587	-17	c.360 others(36): Show c.360+70204_360+70220delTTTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948859	CCCGCGGC others(10): Show CCCGCGGCCTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	242	0.0041	-17	c.360 others(36): Show c.360+30443_360+30459delAGAGGAGGAGGCCGCGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar

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