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
NUDT15_chr13_48032726_48052221	48047652	CAGGCTCA others(19): Show CAGGCTCAAGGGATCCTCTTGCCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	424	0.0024	-26	c.18 others(37): Show c.1854_*1879delAGGCTCAAGGGATCCTCTTGCCTCGG	NUDT15	ENSG00000136159.4	transcript	ENST00000258662.3	protein_coding		432		chr13	TogoVar
NUDT1_chr7_2237226_2256145	2238977	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(24): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00673.hp1 HG01346.hp2 HG01496.hp1 HG01978.hp1 HG02257.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03516.hp1 HG03579.hp2 NA18906.hp1 NA18979.hp2 NA18998.hp1 NA19007.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0002t0001g0101	27	414	0.0652	-26	c.-32 others(37): Show c.-3291_-3266delTATATATATATATATATATATATATA	NUDT1	ENSG00000106268.16	transcript	ENST00000356714.6	protein_coding		3248		chr7	TogoVar
NUDT2_chr9_34324569_34348699	34346359	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03927.hp2 NA20905.hp1 HG02809.hp2 HG03927.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0043 a0001c0001t0002g0152 a0001c0001t0001g0005 a0001c0001t0002g0043 a0001c0001t0002g0152	3	436	0.0069	-26	c.29 others(37): Show c.2920_*2945delATATATATATATATATATATATATAT	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2661		chr9	TogoVar
NUDT2_chr9_34324569_34348699	34346394	ATATATAT others(19): Show ATATATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00733.hp1 others(19): Show HG00323.hp1 HG00597.hp2 HG00733.hp1 HG01891.hp1 HG01981.hp1 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03688.hp2 HG03831.hp2 HG04199.hp1 NA18906.hp2 NA18951.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18997.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0024 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241	22	436	0.0505	-26	c.29 others(37): Show c.2955_*2980delTATATATATATATATATATATATATG	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2696		chr9	TogoVar
NUDT3_chr6_34274679_34397669	34286768	ATAGCAAA others(19): Show ATAGCAAAAAAAAAAAAAAAAATTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0127 a0001c0001t0039g0127	1	270	0.0037	-26	c.19 others(37): Show c.1959_*1984delAAAAATTTTTTTTTTTTTTTTTGCTA	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	5/5	1959		chr6	TogoVar
NUDT3_chr6_34274679_34397669	34308119	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	270	0.0037	-26	c.211 others(45): Show c.211-12460_211-12435delTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34382567	AGGTCAAG others(19): Show AGGTCAAGGCAGGAGGGCTGCTGCTTC	A A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	270	0.0037	-26	c.99+ others(41): Show c.99+9671_99+9696delGAAGCAGCAGCCCTCCTGCCTTGACC	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUFIP2_chr17_29250839_29299148	29292900	GGTGCGGG others(19): Show GGTGCGGGGGGCGCCGGCGCCCCCGCA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0033 a0001c0001t0050g0033	1	356	0.0028	-26	c.277 others(41): Show c.277+857_277+882delTGCGGGGGCGCCGGCGCCCCCCGCAC	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	1/3			chr17	TogoVar
NUMA1_chr11_71997864_72085542	72040445	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18906.hp1 NA18969.hp1 HG02809.hp1 NA18906.hp1 NA18969.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0002 a0001c0005t0001 a0003c0004t0001 a0001c0001t0002 a0001c0005t0001 a0003c0004t0001	a0001c0001t0002g0042 a0001c0005t0001g0153 a0003c0004t0001g0030 a0001c0001t0002g0042 a0001c0005t0001g0153 a0003c0004t0001g0030	3	244	0.0123	-26	c.-32 others(43): Show c.-32-4496_-32-4471delGTGTGTGTGTGTGTGTGTGTGTGTGT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72084861	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02486.hp2 HG02559.hp1 others(5): Show HG01074.hp1 HG02486.hp2 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG03139.hp2 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 others(5): Show a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0076 a0003c0004t0001g0077	8	244	0.0328	-26	c.-45 others(37): Show c.-4532_-4507delACACACACACACACACACACACACAC	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding		4320		chr11	TogoVar
NUMB_chr14_73270216_73463546	73299560	TGTCATAT others(19): Show TGTCATATATATGACATGACATATGTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00639.hp1 others(35): Show HG00438.hp2 HG00544.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01243.hp1 HG01361.hp2 HG01884.hp2 HG01952.hp2 HG02132.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA19012.hp2 NA19079.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(35): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0256 a0001c0001t0006g0011 a0001c0001t0007g0280	38	322	0.1180	-26	c.235 others(43): Show c.235-2301_235-2276delGACATATGTCATGTCATATATATGAC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	6/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352455	CACATACA others(19): Show CACATACACACACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG03688.hp1 others(4): Show HG00423.hp2 HG00642.hp1 HG03688.hp1 NA18979.hp1 NA18980.hp2 NA19066.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0064 a0001c0001t0003g0069 others(4): Show a0001c0001t0003g0044 a0001c0001t0003g0064 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075	7	322	0.0217	-26	c.126 others(43): Show c.126+3145_126+3170delATATGTGTGTGTGTGTGTGTGTATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352471	CACACACA others(19): Show CACACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG03209.hp1 HG01243.hp2 HG01891.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0084	3	322	0.0093	-26	c.126 others(43): Show c.126+3129_126+3154delATATATATATATATATATATGTGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352473	CACACATA others(19): Show CACACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG02145.hp1 others(9): Show HG00597.hp1 HG01081.hp1 HG02145.hp1 HG02622.hp2 HG02698.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp2 NA18955.hp1 NA19012.hp2 NA19065.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 others(9): Show a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0002g0177 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0307 a0001c0001t0004g0195 a0001c0001t0004g0200 a0001c0001t0004g0208 a0001c0001t0007g0280	12	322	0.0373	-26	c.126 others(43): Show c.126+3127_126+3152delATATATATATATATATATATATGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352475	CACATATA others(19): Show CACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	322	0.0031	-26	c.126 others(43): Show c.126+3125_126+3150delATATATATATATATATATATATATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352477	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	322	0.0031	-26	c.126 others(43): Show c.126+3123_126+3148delATATATATATATATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUP107_chr12_68681978_68750809	68737648	ATTCAGTC others(19): Show ATTCAGTCTCAATTATTTCTTTAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02083.hp2 HG02148.hp1 others(6): Show HG02056.hp2 HG02083.hp2 HG02148.hp1 NA18944.hp2 NA18973.hp2 NA18994.hp2 NA19068.hp1 NA19072.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0142 a0001c0001t0003g0145 others(6): Show a0001c0001t0003g0138 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0169 a0001c0001t0003g0193 a0001c0001t0003g0194	9	398	0.0226	-26	c.250 others(45): Show c.2502+2332_2502+2357delTCAGTCTCAATTATTTCTTTAAAACT	NUP107	ENSG00000111581.10	transcript	ENST00000229179.9	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP133_chr1_229435259_229513341	229435458	GTCCCTCT others(19): Show GTCCCTCTCTCTCTCTCTCTCTCTCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG03041.hp1 others(3): Show HG02630.hp1 HG02976.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 NA21309.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0008 a0003c0003 a0006c0008	a0003c0003t0007 a0006c0008t0004 a0003c0003t0007 a0006c0008t0004	a0003c0003t0007g0265 a0003c0003t0007g0266 a0003c0003t0007g0267 others(3): Show a0003c0003t0007g0265 a0003c0003t0007g0266 a0003c0003t0007g0267 a0003c0003t0007g0268 a0006c0008t0004g0019 a0006c0008t0004g0022	6	276	0.0217	-26	c.64 others(37): Show c.6420_*6445delGAGAGAGAGAGAGAGAGAGAGAGGGA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		4800		chr1	TogoVar
NUP133_chr1_229435259_229513341	229435461	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0011 a0008c0013t0003g0011	1	276	0.0036	-26	c.64 others(37): Show c.6417_*6442delAGAGAGAGAGAGAGAGAGAGAGAGAG	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		4797		chr1	TogoVar
NUP133_chr1_229435259_229513341	229435487	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01167.hp2 HG01261.hp1 others(12): Show HG01123.hp2 HG01167.hp2 HG01261.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02300.hp1 HG02735.hp2 NA20300.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0009c0016 a0004c0004 a0009c0016	a0004c0004t0003 a0009c0016t0003 a0004c0004t0003 a0009c0016t0003	a0004c0004t0003g0218 a0004c0004t0003g0222 a0004c0004t0003g0227 others(12): Show a0004c0004t0003g0218 a0004c0004t0003g0222 a0004c0004t0003g0227 a0004c0004t0003g0230 a0004c0004t0003g0231 a0004c0004t0003g0232 a0004c0004t0003g0253 a0004c0004t0003g0254 a0004c0004t0003g0255 a0004c0004t0003g0259 a0004c0004t0003g0260 a0004c0004t0003g0261 a0004c0004t0003g0262 a0004c0004t0003g0263 a0009c0016t0003g0116	15	276	0.0544	-26	c.63 others(37): Show c.6391_*6416delGGAGAGAGAGAGAGAGAGAGAGAGAG	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		4771		chr1	TogoVar
NUP160_chr11_47773118_47853350	47782301	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18983.hp1 NA18990.hp2 others(5): Show NA18952.hp1 NA18983.hp1 NA18990.hp2 NA18994.hp1 NA18999.hp1 NA19063.hp2 NA19080.hp1 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0002 a0006c0009t0002 a0001c0001t0002 a0006c0009t0002	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0206 others(5): Show a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0302 a0006c0009t0002g0285	8	338	0.0237	-26	c.401 others(43): Show c.4014+746_4014+771delATATATATATATATATATATATATTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782303	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(53): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01175.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01891.hp2 HG01943.hp1 HG02056.hp2 HG02132.hp2 HG02293.hp2 HG02602.hp1 HG02735.hp1 HG02809.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18953.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18987.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19056.hp2 NA19058.hp1 NA19065.hp2 NA19066.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0001c0001t0004 a0005c0008t0002 a0001c0001t0002 a0001c0001t0004 a0005c0008t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 others(53): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0004g0286 a0005c0008t0002g0281 a0005c0008t0002g0310	56	338	0.1657	-26	c.401 others(43): Show c.4014+744_4014+769delATATATATATATATATATATATATAT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP188_chr9_128942699_129012096	128966262	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	296	0.0034	-26	c.586 others(43): Show c.586-2232_586-2207delGTGTGTGTGTGTGTTTGTGTGTGTGT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	8/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135567120	CTATGTGT others(19): Show CTATGTGTGTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03942.hp1 HG02602.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0208 a0001c0002t0001g0183 a0001c0002t0001g0208	2	352	0.0057	-26	c.29- others(41): Show c.29-3981_29-3956delGTGTGTATATATATATATATATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135567124	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0089 a0001c0023t0001g0089	1	352	0.0028	-26	c.29- others(41): Show c.29-3979_29-3954delGTGTATATATATATATATATATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP214_chr9_131120586_131239663	131123918	GTATGTGT others(19): Show GTATGTGTGTGTGTGTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02559.hp2 HG02922.hp1 others(1): Show HG01943.hp2 HG02559.hp2 HG02922.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0219 a0002c0002t0001g0222 a0002c0002t0001g0224 others(1): Show a0002c0002t0001g0219 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0003t0001g0215	4	234	0.0171	-26	c.-17 others(37): Show c.-1786_-1761delTATGTGTGTGTGTGTATATATATATA	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding		1667		chr9	TogoVar
NUP214_chr9_131120586_131239663	131212964	TTTTTGTA others(19): Show TTTTTGTAGTTTTTAGATTTTCCATAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp1 HG02886.hp2 others(1): Show HG01109.hp1 HG02818.hp1 HG02886.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0020 a0001c0010 a0002c0020	a0001c0010t0003 a0002c0020t0012 a0001c0010t0003 a0002c0020t0012	a0001c0010t0003g0214 a0001c0010t0003g0228 a0001c0010t0003g0229 others(1): Show a0001c0010t0003g0214 a0001c0010t0003g0228 a0001c0010t0003g0229 a0002c0020t0012g0132	4	234	0.0171	-26	c.559 others(45): Show c.5593-2217_5593-2192delGTAGTTTTTAGATTTTCCATAATTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	30/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP62CL_chrX_107118427_107211433	107174042	TCTCTCTC others(19): Show TCTCTCTCTCTCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	280	0.0036	-26	c.58+ others(41): Show c.58+1021_58+1046delGGAGGGAGGGAGGGAGAGAGAGAGAG	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	3/8			chrX	TogoVar
NUP98_chr11_3670019_3802554	3702313	ACTCTCTC others(19): Show ACTCTCTCTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0322 a0001c0002t0001g0322	1	342	0.0029	-26	c.351 others(43): Show c.3512+124_3512+149delAGAGAGAGAGAGAGAGAGAGAGAGAG	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NVL_chr1_224222345_224335172	224225468	TGAGGCAG others(19): Show TGAGGCAGGAGAATGGCAGGAACCCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	284	0.0035	-26	c.21 others(37): Show c.2132_*2157delCCGGGTTCCTGCCATTCTCCTGCCTC	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding		1876		chr1	TogoVar
NWD2_chr4_37239743_37454463	37388645	TATATATA others(19): Show TATATATATCATATATATCATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	296	0.0034	-26	c.357 others(45): Show c.357+32173_357+32198delATATATATCATATATAAATATATATC	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37397173	GCAGGTGT others(19): Show GCAGGTGTGTCTAGGAGCTTCTCATTA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18953.hp2 NA18956.hp1 others(1): Show NA18945.hp2 NA18953.hp2 NA18956.hp1 NA19007.hp1	a0003 a0003	a0003c0016 a0003c0018 a0003c0016 a0003c0018	a0003c0016t0001 a0003c0018t0001 a0003c0016t0001 a0003c0018t0001	a0003c0016t0001g0111 a0003c0016t0001g0204 a0003c0018t0001g0140 others(1): Show a0003c0016t0001g0111 a0003c0016t0001g0204 a0003c0018t0001g0140 a0003c0018t0001g0155	4	296	0.0135	-26	c.358 others(45): Show c.358-33395_358-33370delGTGTGTCTAGGAGCTTCTCATTACAG	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF1_chr11_62787130_62810440	62797706	AAAAAACA others(19): Show AAAAAACAAAACAAACAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	406	0.0025	-26	c.105 others(43): Show c.1054-346_1054-321delCTTTCTTTTTTGTTTGTTTTGTTTTT	NXF1	ENSG00000162231.14	transcript	ENST00000294172.7	protein_coding	11/20			chr11	TogoVar
NXF2_chrX_102242167_102331722	102293524	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	38	0.0263	-26	c.-53 others(45): Show c.-53-13485_-53-13460delATATATATATATATATATATATATAT	NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
NXNL2_chr9_88530178_88549973	88548339	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	336	0.0030	-26	c.37 others(37): Show c.3793_*3818delAAAAAAAAAAAAAAAAAAAAAAAAAA	NXNL2	ENSG00000130045.17	transcript	ENST00000375854.8	protein_coding		3367		chr9	TogoVar
NXN_chr17_794310_984776	809955	GTGTGAGT others(19): Show GTGTGAGTGGCGTGTACGTTACGAGTC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp2 HG02486.hp1 others(7): Show HG01346.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02698.hp2 HG02886.hp2 HG03453.hp2 HG04184.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0026 a0001c0002t0004	a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0005g0007 others(7): Show a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0005g0007 a0001c0001t0005g0074 a0001c0001t0008g0176 a0001c0001t0008g0192 a0001c0001t0012g0018 a0001c0001t0012g0066 a0001c0001t0026g0173 a0001c0002t0004g0158	10	242	0.0413	-26	c.821 others(43): Show c.821-4734_821-4709delGACTCGTAACGTACACGCCACTCACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	912343	TCTGTTGA others(19): Show TCTGTTGAGAAATTCCCAGAAATTGGA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp2 HG02723.hp2 others(3): Show HG01346.hp1 HG01891.hp2 HG02723.hp2 HG02922.hp2 HG03516.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004 a0002c0005t0004	a0001c0001t0001g0017 a0001c0001t0003g0027 a0001c0001t0004g0041 others(3): Show a0001c0001t0001g0017 a0001c0001t0003g0027 a0001c0001t0004g0041 a0001c0002t0004g0158 a0001c0002t0004g0228 a0002c0005t0004g0197	6	242	0.0248	-26	c.360 others(45): Show c.360+66950_360+66975delTCCAATTTCTGGGAATTTCTCAACAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	979234	AGGGCAGG others(19): Show AGGGCAGGGGTAACGGGCGTGGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02145.hp2 HG02258.hp1 others(5): Show HG02015.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 others(5): Show a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0003g0227 a0001c0001t0004g0224 a0001c0002t0004g0228	8	242	0.0331	-26	c.360 others(39): Show c.360+59_360+84delGCCCCCCACGCCCGTTACCCCTGCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPE1_chr11_114513934_114564881	114540837	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00738.hp2 others(44): Show HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA19240.hp2 NA20805.hp1	a0003 a0009 a0010 others(2): Show a0003 a0009 a0010 a0011 a0018	a0003c0003 a0009c0009 a0010c0012 others(2): Show a0003c0003 a0009c0009 a0010c0012 a0011c0023 a0018c0014	a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 others(6): Show a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0003t0008 a0003c0003t0014 a0009c0009t0005 a0010c0012t0004 a0011c0023t0025 a0018c0014t0003	a0003c0003t0003g0005 a0003c0003t0003g0019 a0003c0003t0003g0039 others(30): Show a0003c0003t0003g0005 a0003c0003t0003g0019 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0154 a0003c0003t0003g0155 a0003c0003t0003g0156 a0003c0003t0003g0158 a0003c0003t0003g0159 a0003c0003t0003g0160 a0003c0003t0003g0161 a0003c0003t0003g0163 a0003c0003t0003g0164 a0003c0003t0005g0010 a0003c0003t0005g0173 a0003c0003t0005g0174 a0003c0003t0005g0175 a0003c0003t0006g0041 a0003c0003t0006g0148 a0003c0003t0006g0165 a0003c0003t0006g0169 a0003c0003t0006g0170 a0003c0003t0006g0268 a0003c0003t0008g0038 a0003c0003t0008g0139 a0003c0003t0008g0140 a0003c0003t0014g0150 a0009c0009t0005g0043 a0010c0012t0004g0068 a0011c0023t0025g0147 a0018c0014t0003g0162	47	360	0.1306	-26	c.100 others(43): Show c.100-9955_100-9930delAAAAAAAAAAAAAAAAAAAAAAAAAA	NXPE1	ENSG00000095110.9	transcript	ENST00000534921.3	protein_coding	5/8			chr11	TogoVar
NXPE3_chr3_101774211_101833231	101818739	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp2 HG03540.hp1 HG02922.hp2 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0006 a0001c0001t0026g0119 a0001c0001t0001g0006 a0001c0001t0026g0119	3	380	0.0079	-26	c.112 others(45): Show c.1129+1740_1129+1765delATATATATATATATTTTTTTTTTTTT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE4_chr11_114565591_114600786	114577060	TATATATA others(19): Show TATATATATATAAAGTTATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	432	0.0023	-26	c.109 others(45): Show c.1099+3046_1099+3071delGTATATATATAACTTTATATATATAT	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	5/5			chr11	TogoVar
NXPH1_chr7_8428609_8757961	8465440	TGGTCCAG others(19): Show TGGTCCAGCTCAGCCTGGGTTGAGTTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02809.hp2 others(5): Show HG02055.hp2 HG02280.hp2 HG02809.hp2 HG02818.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0106 a0001c0001t0001g0174 a0001c0001t0001g0206 a0001c0001t0004g0067 a0001c0001t0009g0137 a0001c0001t0009g0138	8	208	0.0385	-26	c.54+ others(43): Show c.54+29676_54+29701delTCCAGCTCAGCCTGGGTTGAGTTGGG	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXT1_chr20_23345791_23359771	23355008	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	434	0.0023	-26	c.54 others(35): Show c.545_*570delGTGTGTGTGTGTGTGTGTGTGTGTGT	NXT1	ENSG00000132661.4	transcript	ENST00000254998.3	protein_coding		238		chr20	TogoVar
OBI1_chr13_78609289_78664155	78657045	AAAGTGCT others(19): Show AAAGTGCTGGGATTACAGGCGTGAGCC	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	296	0.0034	-26	c.72+ others(41): Show c.72+1978_72+2003delGGCTCACGCCTGTAATCCCAGCACTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding	1/5			chr13	TogoVar
OBP2A_chr9_135541126_135554969	135546344	AAGGCTGG others(19): Show AAGGCTGGCTTCTGACCCCGTGCTCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(266): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0013	a0001c0001 a0001c0007 a0001c0019 others(10): Show a0001c0001 a0001c0007 a0001c0019 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0005 a0007c0008 a0008c0010 a0010c0012 a0011c0011 a0013c0015	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0019t0002 a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 a0004c0004t0001 a0005c0006t0002 a0006c0005t0001 a0006c0005t0006 a0007c0008t0002 a0008c0010t0001 a0010c0012t0002 a0011c0011t0001 a0013c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0003g0110 a0001c0007t0001g0016 a0001c0007t0001g0085 a0001c0007t0001g0086 a0001c0019t0002g0104 a0002c0002t0002g0008 a0002c0002t0002g0026 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0102 a0002c0002t0002g0126 a0002c0002t0003g0103 a0003c0003t0002g0036 a0003c0003t0002g0097 a0003c0003t0002g0122 a0004c0004t0001g0034 a0004c0004t0001g0089 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0101 a0005c0006t0002g0037 a0005c0006t0002g0119 a0005c0006t0002g0120 a0005c0006t0002g0121 a0006c0005t0001g0001 a0006c0005t0001g0002 a0006c0005t0006g0001 a0007c0008t0002g0008 a0007c0008t0002g0093 a0007c0008t0002g0094 a0008c0010t0001g0001 a0010c0012t0002g0032 a0011c0011t0001g0001 a0013c0015t0001g0113	269	455	0.5912	-26	c.72+ others(38): Show c.72+95_72+120delGCTGGCTTCTGACCCCGTGCTCCCAG	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
OBSCN_chr1_228203044_228383876	228289320	GGAGGAGG others(19): Show GGAGGAGGTGATGGGGGTGACTGTGGA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0135 a0135	a0135c0140 a0135c0140	a0135c0140t0001 a0135c0140t0001	a0135c0140t0001g0217 a0135c0140t0001g0217	1	320	0.0031	-26	c.116 others(45): Show c.11626+458_11626+483delAGAGGAGGTGATGGGGGTGACTGTGG	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	43/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OBSCN_chr1_228203044_228383876	228331407	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03654.hp2 NA18906.hp2 HG02165.hp1 HG03654.hp2 NA18906.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0006 a0008c0027 a0001c0001 a0004c0006 a0008c0027	a0001c0001t0001 a0004c0006t0001 a0008c0027t0003 a0001c0001t0001 a0004c0006t0001 a0008c0027t0003	a0001c0001t0001g0264 a0004c0006t0001g0137 a0008c0027t0003g0300 a0001c0001t0001g0264 a0004c0006t0001g0137 a0008c0027t0003g0300	3	320	0.0094	-26	c.185 others(47): Show c.18524-1429_18524-1404delTATATATATATATATATATATATA TA	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	67/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OBSL1_chr2_219545728_219576539	219572012	AGTGTGTG others(19): Show AGTGTGTGTGTGAGTGTGTGTGTGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18994.hp1 NA18982.hp1 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0031 a0002c0002 a0001c0031 a0002c0002	a0001c0031t0001 a0002c0002t0001 a0001c0031t0001 a0002c0002t0001	a0001c0031t0001g0029 a0002c0002t0001g0003 a0001c0031t0001g0029 a0002c0002t0001g0003	2	380	0.0053	-26	c.-80 others(35): Show c.-806_-781delACTCACACACACACTCACACACACAC	OBSL1	ENSG00000124006.15	transcript	ENST00000404537.6	protein_coding		474		chr2	TogoVar
OCA2_chr15_27749875_28104315	28069401	TCCCCTTC others(19): Show TCCCCTTCCCCCTCCCCCTCCCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp1 HG02602.hp1 others(8): Show HG00558.hp1 HG02080.hp1 HG02602.hp1 HG02922.hp1 HG03492.hp2 HG03669.hp1 HG03831.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18973.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0006 a0001c0007 a0001c0024 others(6): Show a0001c0006 a0001c0007 a0001c0024 a0003c0012 a0003c0013 a0003c0020 a0007c0042 a0007c0043 a0008c0044	a0001c0006t0001 a0001c0007t0001 a0001c0024t0001 others(6): Show a0001c0006t0001 a0001c0007t0001 a0001c0024t0001 a0003c0012t0001 a0003c0013t0001 a0003c0020t0001 a0007c0042t0001 a0007c0043t0001 a0008c0044t0001	a0001c0006t0001g0003 a0001c0007t0001g0024 a0001c0007t0001g0086 others(8): Show a0001c0006t0001g0003 a0001c0007t0001g0024 a0001c0007t0001g0086 a0001c0024t0001g0015 a0003c0012t0001g0014 a0003c0012t0001g0028 a0003c0013t0001g0070 a0003c0020t0001g0083 a0007c0042t0001g0027 a0007c0043t0001g0026 a0008c0044t0001g0071	11	110	0.1000	-26	c.227 others(45): Show c.227+12221_227+12246delGGAGGGGGAGGGGGAGGGGGAAGGGG	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23			chr15	TogoVar
OCLN_chr5_69487790_69563104	69533092	CACACACA others(19): Show CACACACACACACACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03098.hp2 HG00733.hp1 HG03098.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0026 a0005c0006t0003 a0004c0005t0026 a0005c0006t0003	a0004c0005t0026g0204 a0005c0006t0003g0205 a0004c0005t0026g0204 a0005c0006t0003g0205	2	290	0.0069	-26	c.892 others(43): Show c.892-1576_892-1551delTACACACACACACACACATATATATA	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar

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