Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
NXNL1_chr19_17450425_17465926	17453089	T T	TAATATAT others(11): Show TAATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG03491.hp2 NA18522.hp2 others(3): Show HG00280.hp1 HG03491.hp2 NA18522.hp2 NA18943.hp1 NA18963.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0068 a0001c0001t0001g0110	6	408	0.0147	18	c.25 others(29): Show c.2557_*2558insTATATATATATATATATT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TTATATAT others(11): Show TTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0114 a0003c0003t0003g0114	1	408	0.0025	18	c.25 others(29): Show c.2557_*2558insTATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18983.hp1 NA18985.hp2 others(2): Show NA18967.hp2 NA18983.hp1 NA18985.hp2 NA19060.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	408	0.0123	18	c.25 others(29): Show c.2531_*2532insAAAAAAAAAAAATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453117	T T	TTATATAT others(11): Show TTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	408	0.0025	18	c.25 others(29): Show c.2529_*2530insTATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2307		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463783	A A	AAGAAGGA others(11): Show AAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	18	c.-29 others(29): Show c.-2915_-2914insCCTTCTCCTTCTCCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2858		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463789	A A	AAGAAGGA others(11): Show AAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01071.hp2 others(4): Show HG00738.hp1 HG01070.hp2 HG01071.hp2 NA18945.hp1 NA18945.hp2 NA18969.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	7	408	0.0172	18	c.-29 others(29): Show c.-2921_-2920insCCTTCTCCTTCTCCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2864		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463795	A A	AAGAAGGA others(11): Show AAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02027.hp2 HG02015.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0023	2	408	0.0049	18	c.-29 others(29): Show c.-2927_-2926insCCTTCTCCTTCTCCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2870		chr19	TogoVar
NXNL2_chr9_88530178_88549973	88546148	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	336	0.0030	18	c.16 others(29): Show c.1601_*1602insGTGTGTGTGTGTGTGTGT	NXNL2	ENSG00000130045.17	transcript	ENST00000375854.8	protein_coding		1176		chr9	TogoVar
NXN_chr17_794310_984776	836963	C C	CTATTATT others(11): Show CTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02622.hp2 HG02630.hp2 others(2): Show HG00639.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0027 a0001c0001t0001 a0001c0001t0008 a0001c0001t0027	a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0068 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0008g0176 a0001c0001t0027g0010	5	242	0.0207	18	c.361 others(37): Show c.361-10903_361-10886dupATAATAATAATAATAATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	836963	C C	CTGTTATT others(11): Show CTGTTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	242	0.0041	18	c.361 others(37): Show c.361-10886_361-10885insATAATAATAATAATAACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01358.hp1 HG01978.hp1 others(18): Show HG00544.hp2 HG01358.hp1 HG01978.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02723.hp2 HG02965.hp2 HG03130.hp2 HG03453.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18951.hp2 NA18973.hp2 NA19004.hp2 NA19010.hp2 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0012 a0001c0001 a0001c0002 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0001t0026 a0001c0001t0030 a0001c0002t0009 a0003c0012t0001	a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0122 others(18): Show a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0177 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0002g0105 a0001c0001t0002g0128 a0001c0001t0003g0027 a0001c0001t0003g0038 a0001c0001t0003g0078 a0001c0001t0003g0193 a0001c0001t0004g0096 a0001c0001t0006g0156 a0001c0001t0016g0001 a0001c0001t0026g0173 a0001c0001t0030g0237 a0001c0002t0009g0008 a0001c0002t0009g0009 a0003c0012t0001g0236	21	242	0.0868	18	c.361 others(37): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	853723	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	242	0.0041	18	c.361 others(37): Show c.361-27646_361-27645insAATATATATATATATATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	905270	T T	TATATATA others(11): Show TATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp1 HG02109.hp1 others(3): Show HG00544.hp2 HG00733.hp1 HG02109.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0001t0001 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0034 a0001c0001t0001g0145 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0219 a0001c0001t0003g0033 a0001c0002t0004g0043	6	242	0.0248	18	c.360 others(37): Show c.360+74048_360+74049insCTATATATATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948839	C C	CCCCCCGG others(11): Show CCCCCCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	242	0.0041	18	c.360 others(37): Show c.360+30479_360+30480insAGAGGAGGAGGCCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948895	C C	CCCCCCTG others(11): Show CCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03669.hp1 HG02683.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0094 a0001c0001t0002g0111 a0001c0001t0001g0094 a0001c0001t0002g0111	2	242	0.0083	18	c.360 others(37): Show c.360+30406_360+30423dupAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948914	C C	CCCCCCTG others(11): Show CCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0156 a0001c0001t0006g0156	1	242	0.0041	18	c.360 others(37): Show c.360+30387_360+30404dupAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948933	C C	CCCCCCTG others(11): Show CCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	242	0.0041	18	c.360 others(37): Show c.360+30368_360+30385dupAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948952	C C	CCCCGCGG others(11): Show CCCCGCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0235 a0001c0004t0001g0235	1	242	0.0041	18	c.360 others(37): Show c.360+30366_360+30367insAGAGGAGGAGGCCGCGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948952	C C	CCCCGTGG others(11): Show CCCCGTGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp1 NA18906.hp1 HG02145.hp1 HG02965.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0001t0001 a0001c0001t0003 a0001c0001t0025	a0001c0001t0001g0063 a0001c0001t0003g0065 a0001c0001t0025g0200 a0001c0001t0001g0063 a0001c0001t0003g0065 a0001c0001t0025g0200	3	242	0.0124	18	c.360 others(37): Show c.360+30366_360+30367insAGAGGAGGAGGCCACGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948994	C C	CTGCCTCC others(11): Show CTGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	242	0.0041	18	c.360 others(37): Show c.360+30324_360+30325insCGGGGAGAGGAGGAGGCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949009	C C	CCCCCCTG others(11): Show CCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	242	0.0041	18	c.360 others(37): Show c.360+30309_360+30310insAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949065	C C	CCCCCCTG others(11): Show CCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	242	0.0041	18	c.360 others(37): Show c.360+30253_360+30254insAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949071	G G	GGCCTCCT others(11): Show GGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	242	0.0041	18	c.360 others(37): Show c.360+30247_360+30248insAGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949109	G G	GCCTCCTC others(11): Show GCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	242	0.0041	18	c.360 others(37): Show c.360+30209_360+30210insAGGGGGGAGAGGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949145	G G	GTGGCCTC others(11): Show GTGGCCTCCTCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	242	0.0041	18	c.360 others(37): Show c.360+30173_360+30174insGGGGAGAGGAGGAGGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949166	G G	GGCCTCCT others(11): Show GGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp2 HG02630.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0201 a0001c0001t0001g0069 a0001c0001t0001g0201	2	242	0.0083	18	c.360 others(37): Show c.360+30152_360+30153insAGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949242	G G	GGCCTCCT others(11): Show GGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0010 a0001c0001t0027g0010	1	242	0.0041	18	c.360 others(37): Show c.360+30076_360+30077insAGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949274	C C	CCCCCCTG others(11): Show CCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp2 HG01169.hp1 others(5): Show HG01071.hp1 HG01081.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01978.hp2 HG03942.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015	a0001c0001t0001g0154 a0001c0001t0001g0203 a0001c0001t0001g0206 others(5): Show a0001c0001t0001g0154 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0002g0093 a0001c0001t0003g0205 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0015g0239	8	242	0.0331	18	c.360 others(37): Show c.360+30027_360+30044dupAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949413	G G	GCCTCCTC others(11): Show GCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19009.hp1 NA18983.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0149 a0001c0001t0002g0104 a0001c0001t0002g0149	2	242	0.0083	18	c.360 others(37): Show c.360+29905_360+29906insAGGGGGGAGAGGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949442	T T	TCCTCCCC others(11): Show TCCTCCCCCCTGCCTCCTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	242	0.0041	18	c.360 others(37): Show c.360+29876_360+29877insGAGGAGGCAGGGGGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949445	C C	CCCCCCTG others(11): Show CCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02486.hp1 HG02886.hp1 others(4): Show HG01070.hp1 HG02486.hp1 HG02886.hp1 HG03130.hp1 HG03491.hp2 HG03492.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0001t0001 a0001c0001t0011 a0001c0001t0015	a0001c0001t0001g0076 a0001c0001t0001g0145 a0001c0001t0001g0146 others(4): Show a0001c0001t0001g0076 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0011g0013 a0001c0001t0015g0240	7	242	0.0289	18	c.360 others(37): Show c.360+29873_360+29874insAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949470	G G	GGCCTCCT others(11): Show GGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	1	242	0.0041	18	c.360 others(37): Show c.360+29848_360+29849insAGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949502	C C	CCCCGCGG others(11): Show CCCCGCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp2 HG02630.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0201 a0001c0001t0001g0069 a0001c0001t0001g0201	2	242	0.0083	18	c.360 others(37): Show c.360+29816_360+29817insAGAGGAGGAGGCCGCGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949544	C C	CTGCCTCC others(11): Show CTGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00544.hp2 others(15): Show HG00099.hp2 HG00323.hp1 HG00544.hp2 HG00733.hp2 HG01978.hp1 HG02027.hp1 HG02273.hp1 HG02723.hp1 HG03492.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18980.hp1 NA18999.hp2 NA19004.hp2 NA19010.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0004t0007	a0001c0001t0001g0051 a0001c0001t0001g0107 a0001c0001t0001g0122 others(15): Show a0001c0001t0001g0051 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0185 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0121 a0001c0001t0002g0163 a0001c0001t0002g0213 a0001c0001t0003g0036 a0001c0001t0003g0130 a0001c0001t0003g0143 a0001c0001t0006g0202 a0001c0001t0013g0220 a0001c0004t0007g0233	18	242	0.0744	18	c.360 others(37): Show c.360+29774_360+29775insCGGGGAGAGGAGGAGGCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949546	T T	TGCCTCCT others(11): Show TGCCTCCTCCTCTCCCGCG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0080 a0001c0006t0005g0080	1	242	0.0041	18	c.360 others(37): Show c.360+29772_360+29773insCGCGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949673	C C	CCCCCCGG others(11): Show CCCCCCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	242	0.0041	18	c.360 others(37): Show c.360+29645_360+29646insAGAGGAGGAGGCCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	963208	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	242	0.0041	18	c.360 others(37): Show c.360+16110_360+16111insGTGTGTGTGTGTGTGTGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	983602	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	242	0.0041	18	c.-39 others(29): Show c.-3925_-3924insTATATATATATATATATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3827		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(11): Show TATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	242	0.0041	18	c.-39 others(29): Show c.-3934_-3933insGTGTGTGTATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXPE2_chr11_114673527_114712069	114695830	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01070.hp1 others(11): Show HG00140.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01255.hp1 HG01346.hp2 HG03098.hp1 HG06807.hp2 NA18959.hp1 NA18971.hp2 NA19004.hp1 NA19030.hp2 NA19079.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0018 a0001c0001 a0002c0002 a0002c0018	a0001c0001t0001 a0002c0002t0001 a0002c0018t0001 a0001c0001t0001 a0002c0002t0001 a0002c0018t0001	a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0075 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0002c0002t0001g0039 a0002c0002t0001g0048 a0002c0002t0001g0213 a0002c0002t0001g0219 a0002c0018t0001g0039	14	428	0.0327	18	c.133 others(35): Show c.133-2195_133-2178dupCACACACACACACACACA	NXPE2	ENSG00000204361.10	transcript	ENST00000389586.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXPE3_chr3_101774211_101833231	101808818	G G	GATATAGA others(11): Show GATATAGATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG06807.hp1 HG03688.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0067 a0001c0001t0001g0081	2	380	0.0053	18	c.922 others(35): Show c.922+1697_922+1698insGATATATATATATATATA	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE3_chr3_101774211_101833231	101808818	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02165.hp2 HG02965.hp2 others(1): Show HG02080.hp2 HG02165.hp2 HG02965.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0082 a0001c0001t0001g0114 a0001c0001t0003g0137 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0114 a0001c0001t0003g0137 a0001c0001t0004g0182	4	380	0.0105	18	c.922 others(35): Show c.922+1713_922+1730dupATATATATATATATATAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE3_chr3_101774211_101833231	101808854	T T	TATACACA others(11): Show TATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp1 HG02615.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0010 a0001c0001t0015	a0001c0001t0010g0274 a0001c0001t0015g0279 a0001c0001t0010g0274 a0001c0001t0015g0279	2	380	0.0053	18	c.922 others(35): Show c.922+1730_922+1731insACACATATATATATACAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE3_chr3_101774211_101833231	101808854	T T	TATATACA others(11): Show TATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01175.hp2 others(10): Show HG00140.hp1 HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01433.hp2 HG02015.hp1 HG02280.hp1 HG02602.hp1 HG02738.hp2 HG03491.hp2 NA18959.hp1 NA18969.hp1 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0012 a0001c0001t0051 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0051 a0002c0003t0062	a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 others(10): Show a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0289 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0326 a0001c0001t0002g0333 a0001c0001t0002g0337 a0001c0001t0002g0341 a0001c0001t0012g0175 a0001c0001t0051g0270 a0002c0003t0062g0176	13	380	0.0342	18	c.922 others(35): Show c.922+1730_922+1731insATACATATATATATACAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPH1_chr7_8428609_8757961	8483965	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02895.hp2 HG02897.hp1 others(3): Show HG01081.hp2 HG02895.hp2 HG02897.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0018	a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0002g0160 others(3): Show a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0005g0164 a0001c0001t0018g0172	6	208	0.0289	18	c.54+ others(35): Show c.54+48215_54+48216insTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8678928	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18994.hp1 HG03239.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0097 a0001c0001t0003g0009 a0001c0001t0002g0097 a0001c0001t0003g0009	2	208	0.0096	18	c.55- others(35): Show c.55-72062_55-72045dupTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8756316	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	208	0.0048	18	c.45 others(29): Show c.4547_*4548insTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding		3356		chr7	TogoVar
NXPH1_chr7_8428609_8757961	8757822	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02602.hp1 HG01934.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0086 a0001c0001t0020g0117 a0001c0001t0001g0086 a0001c0001t0020g0117	2	208	0.0096	18	c.60 others(29): Show c.6053_*6054insACACACACACACACACAC	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding		4862		chr7	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02056.hp1 HG02080.hp2 others(5): Show HG00558.hp1 HG02056.hp1 HG02080.hp2 HG02897.hp1 NA18954.hp1 NA18968.hp2 NA18971.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0300 a0001c0001t0003g0103 a0001c0001t0003g0129 others(5): Show a0001c0001t0001g0300 a0001c0001t0003g0103 a0001c0001t0003g0129 a0001c0001t0003g0183 a0001c0001t0003g0274 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0120	8	350	0.0229	18	c.52- others(35): Show c.52-35447_52-35430dupTTTTTTTTTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG03942.hp1 others(3): Show HG01243.hp2 HG02109.hp1 HG03942.hp1 NA19066.hp1 NA19074.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 others(1): Show a0001c0002 a0001c0004 a0001c0006 a0001c0015	a0001c0002t0001 a0001c0004t0002 a0001c0006t0009 others(1): Show a0001c0002t0001 a0001c0004t0002 a0001c0006t0009 a0001c0015t0003	a0001c0002t0001g0034 a0001c0002t0001g0109 a0001c0004t0002g0001 others(3): Show a0001c0002t0001g0034 a0001c0002t0001g0109 a0001c0004t0002g0001 a0001c0004t0002g0145 a0001c0006t0009g0118 a0001c0015t0003g0037	6	192	0.0313	18	c.161 others(37): Show c.1618+6490_1618+6507dupATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar

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