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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
NPIPB5_chr16_22505891_22541535	22535571	CGAGCGTC others(6): Show CGAGCGTCTGCGGG	C C	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00621.hp1 HG01496.hp2 others(1): Show HG00323.hp1 HG00621.hp1 HG01496.hp2 NA20300.hp1	a0023 a0029 a0030 others(1): Show a0023 a0029 a0030 a0033	a0023c0027 a0029c0003 a0030c0023 others(1): Show a0023c0027 a0029c0003 a0030c0023 a0033c0031	a0023c0027t0001 a0029c0003t0010 a0030c0023t0012 others(1): Show a0023c0027t0001 a0029c0003t0010 a0030c0023t0012 a0033c0031t0013	a0023c0027t0001g0009 a0029c0003t0010g0043 a0030c0023t0012g0010 others(1): Show a0023c0027t0001g0009 a0029c0003t0010g0043 a0030c0023t0012g0010 a0033c0031t0013g0040	4	47	0.0851	-13	c.260 others(22): Show c.2603_2615delAGCGTCTGCGGGG	p.Glu others(5): Show p.Glu868fs	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	5514/6463	2603/3402	868/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22535584	G G	GGGCCGCT others(106): Show GGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCG TCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATA TCAAGACACCTGCC	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG02148.hp2 HG02602.hp2 others(3): Show HG00642.hp1 HG02148.hp2 HG02602.hp2 HG02622.hp2 NA19057.hp2 NA19082.hp2	a0018 a0019 a0020 others(3): Show a0018 a0019 a0020 a0021 a0024 a0027	a0018c0004 a0019c0005 a0020c0026 others(3): Show a0018c0004 a0019c0005 a0020c0026 a0021c0030 a0024c0028 a0027c0024	a0018c0004t0011 a0019c0005t0001 a0020c0026t0002 others(3): Show a0018c0004t0011 a0019c0005t0001 a0020c0026t0002 a0021c0030t0015 a0024c0028t0002 a0027c0024t0002	a0018c0004t0011g0019 a0019c0005t0001g0016 a0020c0026t0002g0008 others(3): Show a0018c0004t0011g0019 a0019c0005t0001g0016 a0020c0026t0002g0008 a0021c0030t0015g0005 a0024c0028t0002g0007 a0027c0024t0002g0041	6	47	0.1277	113	c.260 others(122): Show c.2602_2603insGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGAC ACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAG CAGATGATAATATCAAGACACCTGCCG	p.Glu others(5): Show p.Glu868fs	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	5514/6463	2603/3402	868/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22535710	C C	CGAGCGTC others(6): Show CGAGCGTCTGCGGG	frameshift_variant frameshift_variant	HIGH	NA20300.hp1 NA20300.hp1	a0033 a0033	a0033c0031 a0033c0031	a0033c0031t0013 a0033c0031t0013	a0033c0031t0013g0040 a0033c0031t0013g0040	1	47	0.0213	13	c.272 others(22): Show c.2729_2741dupAGCGTCTGCGGGG	p.Pro others(5): Show p.Pro915fs	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	5653/6463	2742/3402	914/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28342859	G G	GAGATTAT others(58): Show GAGATTATCATCCACTGAGGGTGGAAGAGGAGAGAGGGTGGAAGCGGGAC AAAGAGACATTCCTTC	frameshift_variant frameshift_variant	HIGH	NA19003.hp2 NA19003.hp2	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0001 a0022c0024t0001	a0022c0024t0001g0168 a0022c0024t0001g0168	1	361	0.0028	65	c.102 others(74): Show c.1025_1026insGAAGGAATGTCTCTTTGTCCCGCTTCCACCCTCTCT CCTCTTCCACCCTCAGTGGATGATAATCT	p.Thr others(5): Show p.Thr344fs	NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	8/8	1549/1892	1025/1278	342/425		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28455757	GCCTCGGC others(835): Show GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCGTGGTGTCTG GCCCTAATGTGAGTGATCTTTAACAATGAGGACTTGAAAAAGAAAACCCT GAAGAAACCTAATTCTTTGATGTCTGGACGACAAGGAAGAAGATAGAAAT GGCATCAGATAATAAACAGTGTAAATGTTTATCAGAAAGAGGCTGGTGGT CGGGACCAGTAGGAGGATCGCTTGAGTCCAGGAGTGCATCTCTACAAAAA AGTTAAAGGATTTTTTAACATTGGCCAGGCGTGGTGGCACACATACATCT GTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCCA GGAGGTTGAGGCTGCAGTGAGCTGTGATCGAGCCACTGCACTCCAGCCTG GGTGACAGAGCAAAACCCAGTCTCAAAAAATAATAATAATAATAATAATA TTTTACATAACCAACCACTTCTAAAGATTAAAAAAAAAACCCTACAATTA ATTAAAAACCTCAGGTCCCTCAGGCAATCATACCAGATATTGAAACAAAG CAATAACATAAGGACTGCAGTATTTATTTTATTTTTATATTATTTATTTA TTCTTCGTTAGTTTGTTTTTGGAGCGTGGGTTTTGTTTTGTTTTTTGATT TTTTTCTTTTTTTCGACCTACGGATTTATTCTTATTGCCCAGGCTTGAGT GCAATGGCGTGTTCTCAGCTTACTCAACCTCCGCCTCTTGGGTTTGGGTA ATTGTTGTGCCTCGGCCTCCCTCTGCCTCTTGGGCTTGGGCGATTGTTCC ACCTCATCCACCCTCCACCTCTTGGGTTTGGGTGGTTTTTCCA	G G	frameshift_variant others(4): Show frameshift_variant stop_lost 3_prime_UTR_truncation exon_loss_variant splice_region_variant	HIGH	NA18993.hp1 NA18993.hp1	a0000 a0000	a0000c0044 a0000c0044	a0000c0044t0056 a0000c0044t0056	a0000c0044t0056g0243 a0000c0044t0056g0243	1	382	0.0026	-842	c.107 others(9): Show c.1070_*666del	p.Val others(5): Show p.Val357fs	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7		1070/1245	357/414		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456526	C C	CCTCTGCC others(3): Show CCTCTGCCTCT	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG01891.hp1 HG02071.hp2 others(26): Show HG00609.hp2 HG01891.hp1 HG02071.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02895.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1 NA18944.hp2 NA18952.hp2 NA18953.hp2 NA18971.hp2 NA18977.hp1 NA18983.hp2 NA18994.hp1 NA19005.hp2 NA19030.hp1 NA19077.hp1 NA19080.hp2 NA19087.hp2 NA19091.hp2	a0005 a0012 a0018 others(1): Show a0005 a0012 a0018 a0035	a0005c0005 a0005c0010 a0012c0015 others(2): Show a0005c0005 a0005c0010 a0012c0015 a0018c0021 a0035c0039	a0005c0005t0004 a0005c0005t0023 a0005c0005t0027 others(5): Show a0005c0005t0004 a0005c0005t0023 a0005c0005t0027 a0005c0010t0001 a0005c0010t0057 a0012c0015t0007 a0018c0021t0024 a0035c0039t0001	a0005c0005t0004g0013 a0005c0005t0004g0014 a0005c0005t0004g0114 others(23): Show a0005c0005t0004g0013 a0005c0005t0004g0014 a0005c0005t0004g0114 a0005c0005t0004g0115 a0005c0005t0004g0116 a0005c0005t0004g0117 a0005c0005t0004g0118 a0005c0005t0004g0119 a0005c0005t0004g0120 a0005c0005t0004g0121 a0005c0005t0004g0123 a0005c0005t0004g0124 a0005c0005t0023g0127 a0005c0005t0023g0128 a0005c0005t0027g0031 a0005c0010t0001g0299 a0005c0010t0001g0300 a0005c0010t0001g0302 a0005c0010t0001g0303 a0005c0010t0001g0319 a0005c0010t0057g0322 a0012c0015t0007g0015 a0012c0015t0007g0138 a0018c0021t0024g0129 a0018c0021t0024g0130 a0035c0039t0001g0301	29	382	0.0759	10	c.113 others(19): Show c.1133_1142dupAGAGGCAGAG	p.Ala others(5): Show p.Ala385fs	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	3040/3238	1142/1245	381/414		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456547	C C	CGATTGTT others(36): Show CGATTGTTCCACCTCATCCACCCTCCGCCTCCTTGGGTTTCGGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02109.hp2 HG02109.hp2	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0005 a0020c0022t0005	a0020c0022t0005g0099 a0020c0022t0005g0099	1	382	0.0026	43	c.112 others(52): Show c.1121_1122insACCGAAACCCAAGGAGGCGGAGGGTGGATGAGGTGG AACAATC	p.Arg others(5): Show p.Arg379fs	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	3019/3238	1121/1245	374/414		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456583	T T	TTTCGGTG others(34): Show TTTCGGTGATTGTTCCACCTCATCCACCCTCCACCTCTTGGG	frameshift_variant frameshift_variant	HIGH	NA18961.hp2 NA18961.hp2	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0002 a0022c0024t0002	a0022c0024t0002g0056 a0022c0024t0002g0056	1	382	0.0026	41	c.108 others(50): Show c.1085_1086insCCCAAGAGGTGGAGGGTGGATGAGGTGGAACAATCA CCGAA	p.Lys others(5): Show p.Lys362fs	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	2983/3238	1085/1245	362/414		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456714	AGGGTGGA others(57): Show AGGGTGGAAGAGGAGAGGGTGGAAGCGGGACAAAGAGACATTCCTTCAGA TTATCATCCACTGAG	A A	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0033 a0033	a0033c0046 a0033c0046	a0033c0046t0001 a0033c0046t0001	a0033c0046t0001g0208 a0033c0046t0001g0208	1	382	0.0026	-64	c.891 others(71): Show c.891_954delCTCAGTGGATGATAATCTGAAGGAATGTCTCTTTGTCC CGCTTCCACCCTCTCCTCTTCCACCC	p.Ser others(5): Show p.Ser298fs	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	2852/3238	891/1245	297/414		chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28658374	TCCCGCTT others(18): Show TCCCGCTTCCACCCTCTCCTCTTCCA	T T	frameshift_variant frameshift_variant	HIGH	NA18943.hp2 NA18943.hp2	a0024 a0024	a0024c0046 a0024c0046	a0024c0046t0008 a0024c0046t0008	a0024c0046t0008g0061 a0024c0046t0008g0061	1	351	0.0029	-25	c.104 others(34): Show c.1047_1071delGCTTCCACCCTCTCCTCTTCCACCC	p.Leu others(5): Show p.Leu350fs	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	8/8	1171/1537	1047/1299	349/432	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28658517	A A	AAGAGGCA others(3): Show AAGAGGCAGAG	frameshift_variant frameshift_variant	HIGH	HG02055.hp1 HG02280.hp2 HG02559.hp2 others(16): Show HG02055.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02723.hp1 HG02723.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 NA19030.hp1 NA19030.hp2 NA21309.hp2	a0004 a0005 a0023 others(1): Show a0004 a0005 a0023 a0042	a0004c0004 a0005c0008 a0005c0015 others(2): Show a0004c0004 a0005c0008 a0005c0015 a0023c0045 a0042c0034	a0004c0004t0001 a0005c0008t0002 a0005c0015t0001 others(3): Show a0004c0004t0001 a0005c0008t0002 a0005c0015t0001 a0005c0015t0002 a0023c0045t0002 a0042c0034t0002	a0004c0004t0001g0198 a0004c0004t0001g0199 a0004c0004t0001g0200 others(16): Show a0004c0004t0001g0198 a0004c0004t0001g0199 a0004c0004t0001g0200 a0004c0004t0001g0201 a0004c0004t0001g0202 a0004c0004t0001g0203 a0004c0004t0001g0204 a0004c0004t0001g0205 a0004c0004t0001g0206 a0005c0008t0002g0011 a0005c0008t0002g0073 a0005c0008t0002g0074 a0005c0008t0002g0077 a0005c0008t0002g0086 a0005c0008t0002g0087 a0005c0015t0001g0068 a0005c0015t0002g0098 a0023c0045t0002g0328 a0042c0034t0002g0078	19	351	0.0541	10	c.118 others(19): Show c.1187_1196dupAGAGGCAGAG	p.Ala others(5): Show p.Ala403fs	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	8/8	1321/1537	1197/1299	399/432	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772384	CCCTCTCC others(55): Show CCCTCTCCTCTTCCACCCTCAGTGGATGATAATCTGAAGGAATGTCTCTT TGTCCCGCTTCCA	C C	frameshift_variant frameshift_variant	HIGH	NA18948.hp2 NA18948.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0001 a0017c0027t0001g0001	1	179	0.0056	-62	c.931 others(69): Show c.931_992delTCTCCTCTTCCACCCTCAGTGGATGATAATCTGAAGGA ATGTCTCTTTGTCCCGCTTCCACC	p.Ser others(5): Show p.Ser311fs	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1617/2094	931/1299	311/432	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772481	TGAAGGAA others(57): Show TGAAGGAATGTCTCTTTGTCCCGCTTCCACCCTCTCCTCTTCCACCCTCA GTGGATGATAATCTC	T T	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0001 a0016c0025t0001	a0016c0025t0001g0006 a0016c0025t0001g0006	1	179	0.0056	-64	c.102 others(73): Show c.1026_1089delGAAGGAATGTCTCTTTGTCCCGCTTCCACCCTCTCC TCTTCCACCCTCAGTGGATGATAATCTC	p.Lys others(5): Show p.Lys343fs	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1712/2094	1026/1299	342/432		chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772585	A A	AAAACCAC others(37): Show AAAACCACCCAAAACCCAAGAGGTGGAGGGTGGATGAGGTGGAAC	frameshift_variant frameshift_variant	HIGH	NA18948.hp2 NA18948.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0001 a0017c0027t0001g0001	1	179	0.0056	44	c.113 others(53): Show c.1131_1132insACCACCCAAAACCCAAGAGGTGGAGGGTGGATGAGG TGGAACAA	p.Pro others(5): Show p.Pro378fs	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1818/2094	1132/1299	378/432	INFO_REALIGN_3_PRIME	chr16	TogoVar
NR0B1_chrX_30299206_30314390	30304739	G G	GT GT	frameshift_variant frameshift_variant	HIGH	HG01070.hp2 HG01070.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0005 a0006c0010t0005	a0006c0010t0005g0043 a0006c0010t0005g0043	1	322	0.0031	1	c.125 others(5): Show c.1252dupA	p.Thr others(5): Show p.Thr418fs	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding	2/2	1279/1813	1252/1413	418/470		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30308374	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG04199.hp1 HG04199.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0074 a0007c0014t0001g0074	1	322	0.0031	1	c.989 others(4): Show c.989dupG	p.Asn others(5): Show p.Asn331fs	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding	1/2	1016/1813	989/1413	330/470		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30308778	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19087.hp1 NA19087.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0033 a0005c0009t0001g0033	1	322	0.0031	-1	c.585 others(4): Show c.585delT	p.Leu others(5): Show p.Leu196fs	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding	1/2	612/1813	585/1413	195/470		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30308815	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00733.hp1 NA18950.hp2 HG00733.hp1 NA18950.hp2	a0003 a0003	a0003c0008 a0003c0012 a0003c0008 a0003c0012	a0003c0008t0001 a0003c0012t0001 a0003c0008t0001 a0003c0012t0001	a0003c0008t0001g0032 a0003c0012t0001g0050 a0003c0008t0001g0032 a0003c0012t0001g0050	2	322	0.0062	1	c.548 others(4): Show c.548dupG	p.Lys others(5): Show p.Lys184fs	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding	1/2	575/1813	548/1413	183/470		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30308857	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18998.hp1 NA18998.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0075 a0008c0015t0001g0075	1	322	0.0031	1	c.506 others(4): Show c.506dupG	p.Ala others(5): Show p.Ala170fs	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding	1/2	533/1813	506/1413	169/470		chrX	TogoVar
NR1D1_chr17_40087793_40105589	40095818	CCTGGGAT others(4): Show CCTGGGATATCA	C C	frameshift_variant frameshift_variant	HIGH	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0049 a0003c0005t0001g0049	1	430	0.0023	-11	c.863 others(18): Show c.863_873delTGATATCCCAG	p.Val others(5): Show p.Val288fs	NR1D1	ENSG00000126368.6	transcript	ENST00000246672.4	protein_coding	5/8	1368/2630	863/1845	288/614		chr17	TogoVar
NR4A1_chr12_52046442_52064503	52054795	GCTCCTTC others(27): Show GCTCCTTCGGCCACTTCTCGCCCAGCCAGACTTAC	G G	frameshift_variant frameshift_variant	HIGH	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0060 a0006c0014t0001g0060	1	422	0.0024	-34	c.468 others(41): Show c.468_501delCTCCTTCGGCCACTTCTCGCCCAGCCAGACTTAC	p.Ser others(5): Show p.Ser157fs	NR4A1	ENSG00000123358.20	transcript	ENST00000394825.6	protein_coding	2/7	597/2485	468/1797	156/598		chr12	TogoVar
NRAP_chr10_113583714_113669041	113653022	ATAGTCTT others(121): Show ATAGTCTTCTGTATATTCCTGTTGGTCAGAACCAATGTCAGCATGAGAAC TGAGATGATATTGAATGACAACTAAGAAAACCGCAATAAAACCAATGAAA CTAGATTCATAAAGTTCTTCGGAAATATT	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01891.hp2 HG02451.hp2 HG03471.hp2 others(2): Show HG01891.hp2 HG02451.hp2 HG03471.hp2 HG03516.hp2 NA19043.hp1	a0021 a0021	a0021c0071 a0021c0072 a0021c0073 others(2): Show a0021c0071 a0021c0072 a0021c0073 a0021c0114 a0021c0115	a0021c0071t0002 a0021c0072t0001 a0021c0073t0001 others(2): Show a0021c0071t0002 a0021c0072t0001 a0021c0073t0001 a0021c0114t0004 a0021c0115t0004	a0021c0071t0002g0269 a0021c0072t0001g0271 a0021c0073t0001g0270 others(2): Show a0021c0071t0002g0269 a0021c0072t0001g0271 a0021c0073t0001g0270 a0021c0114t0004g0273 a0021c0115t0004g0274	5	398	0.0126	-128	c.466 others(11): Show c.466-111_482del	p.Glu others(5): Show p.Glu156fs	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	6/42	641/5613	466/5193	156/1730		chr10	TogoVar
NRBP1_chr2_27423631_27447259	27439786	G G	GGCAAGCC others(3): Show GGCAAGCCCCC	frameshift_variant frameshift_variant	HIGH	HG01517.hp2 HG01517.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0069 a0005c0006t0001g0069	1	276	0.0036	10	c.924 others(17): Show c.924_925insGCAAGCCCCC	p.Gln others(5): Show p.Gln309fs	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding	11/18	1046/2176	925/1608	309/535		chr2	TogoVar
NRK_chrX_105817539_105963610	105924719	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0041 a0008c0013t0001g0041	1	219	0.0046	1	c.300 others(5): Show c.3001dupT	p.Cys others(6): Show p.Cys1001fs	NRK	ENSG00000123572.17	transcript	ENST00000243300.14	protein_coding	19/29	3309/8066	3002/4749	1001/1582	INFO_REALIGN_3_PRIME	chrX	TogoVar
NSUN7_chr4_40744955_40816184	40774777	GTTTATAA others(3): Show GTTTATAATAA	G G	frameshift_variant frameshift_variant	HIGH	NA18948.hp2 NA18948.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0002 a0011c0019t0002	a0011c0019t0002g0104 a0011c0019t0002g0104	1	392	0.0026	-10	c.656 others(17): Show c.656_665delATAATAATTT	p.Tyr others(5): Show p.Tyr219fs	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	6/12	1093/4839	656/2157	219/718	INFO_REALIGN_3_PRIME	chr4	TogoVar
NSUN7_chr4_40744955_40816184	40808358	GCCAAGGG others(6): Show GCCAAGGGTCTGCT	G G	frameshift_variant frameshift_variant	HIGH	HG03130.hp1 HG03130.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0011 a0013c0012t0001g0011	1	392	0.0026	-13	c.157 others(22): Show c.1577_1589delCCAAGGGTCTGCT	p.Ala others(5): Show p.Ala526fs	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	12/12	2014/4839	1577/2157	526/718		chr4	TogoVar
NT5M_chr17_17298373_17352663	17303603	C C	CCGCGGGG others(3): Show CCGCGGGGCGG	frameshift_variant frameshift_variant	HIGH	HG02135.hp1 HG02135.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0012 a0004c0003t0001g0012	1	348	0.0029	10	c.66_ others(15): Show c.66_75dupCGGGGCGGCG	p.Gly others(4): Show p.Gly26fs	NT5M	ENSG00000205309.14	transcript	ENST00000389022.9	protein_coding	1/5	254/1581	76/687	26/228	INFO_REALIGN_3_PRIME	chr17	TogoVar
NTAQ1_chr8_123411774_123447240	123437328	ACTGGAGG others(13): Show ACTGGAGGTGAGCCAAGATGC	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18997.hp2 NA18997.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0264 a0003c0006t0001g0264	1	366	0.0027	-20	c.505 others(30): Show c.505_508+16delGGAGGTGAGCCAAGATGCCT	p.Gly others(5): Show p.Gly169fs	NTAQ1	ENSG00000156795.8	transcript	ENST00000287387.7	protein_coding	5/6	581/1519	505/618	169/205	INFO_REALIGN_3_PRIME	chr8	TogoVar
NTRK1_chr1_156855865_156886850	156876154	C C	CTTGCTGA others(30): Show CTTGCTGAGTGCCACAACCTCCTGCCTGAGCAGGACAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA20905.hp1 NA20905.hp1	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0001 a0011c0025t0001	a0011c0025t0001g0202 a0011c0025t0001g0202	1	392	0.0026	37	c.157 others(46): Show c.1577_1613dupTTGCTGAGTGCCACAACCTCCTGCCTGAGCAGGACA A	p.Lys others(5): Show p.Lys538fs	NTRK1	ENSG00000198400.14	transcript	ENST00000524377.7	protein_coding	13/17	1684/2669	1614/2391	538/796	INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDT10_chrX_51327822_51342525	51333087	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0001 a0003c0026t0001g0001	1	306	0.0033	1	c.125 others(4): Show c.125dupC	p.Asp others(4): Show p.Asp43fs	NUDT10	ENSG00000122824.11	transcript	ENST00000356450.3	protein_coding	1/2	270/1925	126/495	42/164	INFO_REALIGN_3_PRIME	chrX	TogoVar
NUDT10_chrX_51327822_51342525	51333112	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0004 a0002c0055t0004	a0002c0055t0004g0026 a0002c0055t0004g0026	1	306	0.0033	1	c.152 others(4): Show c.152dupG	p.Met others(4): Show p.Met52fs	NUDT10	ENSG00000122824.11	transcript	ENST00000356450.3	protein_coding	1/2	297/1925	153/495	51/164	INFO_REALIGN_3_PRIME	chrX	TogoVar
NUDT10_chrX_51327822_51342525	51333284	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0004 a0002c0055t0004	a0002c0055t0004g0026 a0002c0055t0004g0026	1	306	0.0033	-1	c.322 others(4): Show c.322delG	p.Glu others(5): Show p.Glu108fs	NUDT10	ENSG00000122824.11	transcript	ENST00000356450.3	protein_coding	1/2	466/1925	322/495	108/164	INFO_REALIGN_3_PRIME	chrX	TogoVar
NUDT10_chrX_51327822_51342525	51333427	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0004 a0002c0055t0004	a0002c0055t0004g0026 a0002c0055t0004g0026	1	306	0.0033	-1	c.463 others(4): Show c.463delA	p.Met others(5): Show p.Met155fs	NUDT10	ENSG00000122824.11	transcript	ENST00000356450.3	protein_coding	1/2	607/1925	463/495	155/164		chrX	TogoVar
NUDT11_chrX_51485011_51501592	51496319	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18963.hp2 NA18991.hp2 NA18963.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	2	274	0.0073	1	c.125 others(4): Show c.125dupC	p.Asp others(4): Show p.Asp43fs	NUDT11	ENSG00000196368.5	transcript	ENST00000375992.4	protein_coding	1/2	273/2381	125/495	42/164		chrX	TogoVar
NUDT11_chrX_51485011_51501592	51496443	ATCCTCGA others(7): Show ATCCTCGAGGCAGCC	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0005 a0001c0001t0003g0012 a0001c0001t0003g0029 a0001c0001t0005g0009 a0001c0001t0006g0010 a0001c0001t0008g0026 a0001c0001t0009g0030 a0001c0001t0010g0027 a0001c0001t0011g0044 a0001c0001t0012g0031 a0001c0001t0013g0034 a0001c0001t0014g0047 a0001c0001t0015g0048 a0001c0003t0001g0008 a0001c0005t0001g0015 a0001c0006t0001g0016 a0001c0007t0001g0045 a0001c0008t0001g0046 a0002c0002t0004g0006	273	274	0.9964	-14	c.-13 others(19): Show c.-13_1delGGCTGCCTCGAGGA	p.Met others(3): Show p.Met1fs	NUDT11	ENSG00000196368.5	transcript	ENST00000375992.4	protein_coding	1/2	149/2381	1/495	1/164		chrX	TogoVar
NUDT13_chr10_73105455_73136823	73130825	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01243.hp1 HG01891.hp2 others(15): Show HG00735.hp2 HG01243.hp1 HG01891.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0003 a0002c0007t0003 a0002c0002t0003 a0002c0007t0003	a0002c0002t0003g0035 a0002c0002t0003g0158 a0002c0002t0003g0159 others(14): Show a0002c0002t0003g0035 a0002c0002t0003g0158 a0002c0002t0003g0159 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0007t0003g0173	18	324	0.0556	1	c.986 others(4): Show c.986dupC	p.Lys others(5): Show p.Lys330fs	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	9/9	1109/2101	987/1059	329/352	INFO_REALIGN_3_PRIME	chr10	TogoVar
NUMBL_chr19_40660905_40695651	40667996	C C	CTGTTGCT others(18): Show CTGTTGCTGCTGCTGCTGCTGCTGGG	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0106 a0005c0010t0002g0106	1	414	0.0024	25	c.127 others(34): Show c.1277_1301dupCCCAGCAGCAGCAGCAGCAGCAACA	p.Gln others(5): Show p.Gln434fs	NUMBL	ENSG00000105245.9	transcript	ENST00000252891.8	protein_coding	10/10	1469/3561	1301/1830	434/609		chr19	TogoVar
NUP43_chr6_149719315_149751529	149725573	GAGCAAAA others(4854): Show GAGCAAAACTCCATCTCAAAAAATATATATATTTATTAGGACAGAAAAGC AAAACCTTACCATAATTCCATAACTATGATTATTGGAATTACAAAGTAAA TGAACACTTCAATTGTCTAATAGCAGTGATTTGTCATTAAGGTCTCAGGT CAATAATACATTTAAAATCTAACAAAGTTTGGAAAGATAGTATCATTAAA TTATCTTAAAACACTACATTAGTTCATTATTATCCCTGCAGACAAGGATA AAGATGGTTGGTAACACTATAGGTGGCTAAAACAAAGTAAAAGGATCAAA ATGGCAAAATTCTTTACTCTGATCATATCATTTGATTAATCACACTTTTA TCTATCACATTTTTAGTTTGGAAATAGTTTGCTTATCAATATAGAATTCT ACTTTATTGCACAATGTCCAGTTTGGCAACTTTCAGCTATGCTGTGAAGC TAAACAAAAGCAAAGTTGGGTCTAACAAGCTGAAAGAGTTCTGCTCAAAA ACCTATTCTGAAAAAGGAACTTGTCAAAACATTTTCACCTTAAAAAAATT TCAGGCCGGGTGCAGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGT CGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACA TGGTGAAACTCTGTCTCTACTAAAATTACAAAAATTAGCTGGGCGTGGTG GCGCACACCTGTAGTTCCAGCTACTCAGGAGACTGAGGCAGGAGAATTGC TTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACCGCAC TCCAGCAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAATTGAA CACAGCTACACATCTTTGTCATTTTTGCTCTACTCAATTCTTTCTGAAAA AGTTTATTATTATTAAGGAAATAAAGTGTGGAAGGATCATAGGAAATACT TGCAATAAAAAGAATAATCATTAACATTGGCAACTGCCACTAGGAAGGTG TATATGCCACATACTACTGATAAAAATTGTAGGAACCCATTGGTAGTTCC CATAACCACCATTGATGTGTTAATTCCCACAACATCAAAAATAAAGAATT AGTTCCACAAGCTGTCTGTCAATAATACTCTGAAGGCAACCTATTCATCA GCACCAGAATCCCACTGATTTTCTTCCACATGTTCACAATCTTTTGCCAT CAGTCATCTATCGGATTCTACAACTGTTTGGGAGTGTCAGGCTAACAAAA GTCAAAACTGGGCATTGACATTAATGGTAGTTTACTGATGTTTCCCCTGC AAATCTCGTATTTTCTGATACTAAAATTTTGCACAGAAGTTGGATTTCAA AAGGCTAATTGCATGTTCTATCTGAAATCTTATAATTATAGTACTTCTAC GAAAAAAGATGTCTAGTAACATAAATTGCTTCTGCATCGGTTCCACAAAC AAGACAAGGACCTAAAACATCCAAAGTGTTCACAGACAGAGACCTACTGG GAAGTAAGCTTGTGATTTCAATTCGGTCTTTTGCAGGATCAGTGCTGAGC CAGGAGCTAATGACAGACTGGTGAACATTAGCTTGGTTACTAATGCTATG AGACAAAAAAGTACTGCTTCTTCCTCCTGGGAGAAAAAAAGAAAAGGAAG AAATCTTTCAAGATGATTTTTATATTAGTAAACATTCAAACTTCTACTGA TATTTAGAAAGGTGATGATATCAATGTGTTTAATTCTCAGAATAATAGGC TAATAATTCCATTATTATACATCACCACTTTGGACCAAAGGCTTATTCAG TGATATTAAATATTCAAATTTCCATGGGATAATATGGATACCAAACTCGA AGTCTTCAGGAAAAGCAGGTGATTTCAACTGACTTTCTGTTCATCTTTTA ATGGAAAGTCTCAGAAAGGTAGCAAAACGGCCAGCATACAAGTTGAATAA GGAAAGAAAAAAAAGAAACCAAAAATGTAGGTAATACATGGAAATATAAA CTCTTGGGTAATAACAAAATAAAATGATCATGAGAAAGAATTTCTAGACA TATTTCTAGATGAACATTTCTAGAAATATATTTCTAAATATATATTTGTT ACTATATTTCTTAAAATATAATCGCCTTACCTCAAATCTTTCATTCTTAT GCTTTTTAGATAAATGTTCTTACAAGCAGATTAGAACACTACTAGATTAT AAGGTTTTATCTCTAACAGCGCACTGTACTTACTATAGAATAAAGTGAGG CAGAGGCAGTATATTTCAATTTTAGTCATTATTCGCAACTTACTTTCCTC TCAACTTGCTGTCATATCAAATAAGTACAAATTTAATTCACTCAACAAAT GACTGAGTACCTACTATGTGCCAGGCTCTGTGCTAAGTGCTCTGTGCCAA GTCCCTATGTCTTGAAGCTTAAAGATTAGTACATTTAAAATCTTGCTGAT CCTTTAAAATATGGCTGAACTTCCTTCTCTAAGAAAACTTTGAAGACAAC CTCTACTTCATGTTTTTCTCTTTCCTTGAACCCTCAGCACTTGTATGTAC CATTAATTTACTACTTTATAACAATTCTTATATCCTAATTGAACTATCCA TGCCTCTGTCCATGACTAAATATGTCTTAAGAGCAGGATGCATATTTTAT ATGTTTTACTTTTTCACAGTGTCTAATACTGTGCCTTGCAATAGTAGACA CAGAATAAAGTTTTATTTCCAGTCTAACCAAGGTTCCTTAAAAGTAAACT TGCAAGTTCAAGACTGTGCGGTTAGGGGAGGAAGGAAGTAAAAACGAAGT ACATACTTAGTTAATCCTTAGATGAAACTGTTTGTTTCTCTGTAGATGAA GTTATAGCATGGACATGCATGCATGCTCCACACATGCTCTCCGCTCCAGA ATTTTTCTGAAGAAGTTTTAGAATTTTTTTCCCCTTAGTTTTTCTGTTTA TCTTTTACTGCCCCTACATTTTACATTGCTCTTGGACGCTGTAAAGATTA ACACATTATTCAAGCCACTGTGATAAGACTCCTTCCTCATCTCCCTGTTT TCCACTTTTCTCCTCCCCCTCCCATAAGTCTAAAGTCCTTATCATGGGCT ACAAAGTCCCAGGGCTCCTCAGCCACCAGTCCTTATCTCCCACCACTGTA CCCTGCTGCCTGAGCTCCAACCGTGGTGTCCTTGCAGTTCTCTGCCTGTC TCAGGCCCTCAGCATTTGCTGTTTCCTCTGCCTGGAATGCTTTCATGTCA CTTATGCCTTCACTTCTCTTAAGTCTCTGCTCAAATGTTCCTTCTGCCAA GTGGCCTCTTCTGACTCTCACTAGAGTAGCTCCCCTCACCCCTGTCTTTA TTCTTTATCCTCCTACTCTGCTGTATTCTTCTTCATGGTAATTAGCAGTG TATTTGGCCATGTTATTTTCCTTTTTCTTTTTTTTTGAGATGGAGTCTTG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGACCTTGGCTCACTGCAAC CTCCAACTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGC TGGGATTACAGGCACCCACCACCACGTTCAGCTAATTTTTGTATTTTTAG TAGACACAGGGTTTCACCATGTTGGACCAGGCTGGTCTTGAACTCCTGGC CTCAGGTCATCTGCCCACCTCGGCCTCCCAAATTGCTGGGATTACAGGTG TGAGCCACCGCGCCCGGCCTCCTTTTCCACTTTGCTGTGCTCCACTATAT ACTGTAGGAGGTAGAAGTTGGTAAACTCCACTTTCCAGGCTGCTTTGCCA TCTGCCATCCAGATGGGCCTTGCCAATAGCAGGTATTAATGGTGGGTGAC TGGAAGGCGGAAGGGAGAAGCAGCTCCTTCCTGCTCCAGGTTTCTGGCAA CAACACTGGTGGTAGTTTCAGCCTGGTTGAGGGAGCGCCTTTTCTCCTAA TTCAGAACAAACTTTTACAGCATTTTCAACAGTCAAGTAGCAGGGGTACT AACAATTACTATTTCTGGGTTTTCCCTTTTCTTCCTATTTGTTCTCCCAG CACCCCTCCTATTACCTTTTGTTTTCCCAGCCCTTCTAACACATGTGAGA CCAATTCCTTCTACATCTAAGGTAGTTTCTGACATTCTAATTGGACTCTT ACTGATACATTATCTATTTTTTTAACTATTAGAATATTTGCTCTATGCGT TTCGACATTTCGTTCTGCTCACTGTTACACGTCCTAACACCTAGAAGAAT GCCTACCACATGGTAGGCATTCAGTAAATATTTCTGAATAAATGAATAAG CAAAAGAACTTTGGAGCCACAGACAAACCCTCAAAAACAGGAAACTTGGA AAATGCAAAAACACATAAACCCCGATTACAAGTGCATGGTCTTTGGCTGA CCATAACCTACAACTGACTGTAATGAGGAAAGCACGCCCTTTTTTTTTTT TTTTGAGACGGAGTTTCGCTTTTGCTATCCAGGCTGGAGTGCAATGGTGC AATCTCGGCTCGCTGAAACCTCTGTCTCCTGGGTAAAAGCAATTCTCCTG CCTCAGCCTCCTGAATAGCTAGGATTACAGGCATGAGCCACCACACCCGG CTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCT GGTCTCGAACTCCCAAACTCAGGTGATCCACCTGCCTTGGCCTCCCAAAG TGCTGGGATTACAGGCATGAGCCACCACACCCGGCCTGAGATCAGGCCAT TTAACCAGTACCCTCAGTTACATCAAATATCAACTTTTTTCTTGCCATTC ACACAAACTTGGCAATGCAATATGAAAGATTTGCCACTGTCTATGCTATG GCATGAGGGTCC	G G	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	NA18945.hp1 NA18945.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0031 a0000c0005t0031	a0000c0005t0031g0054 a0000c0005t0031g0054	1	328	0.0031	-4861	c.913 others(14): Show c.913+1179_*1395del	p.Gly others(5): Show p.Gly305fs	NUP43	ENSG00000120253.14	transcript	ENST00000340413.7	protein_coding	8/8	2572/3831	914/1143	305/380		chr6	TogoVar
NUTM2A_chr10_87220448_87239978	87226077	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.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.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(65): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0039 a0001c0040 a0001c0041 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0002c0035 a0002c0036 a0002c0037 a0002c0038 a0002c0064 a0002c0065 a0004c0014 a0004c0049 a0008c0080 a0009c0066	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(74): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0023 a0001c0002t0001 a0001c0002t0021 a0001c0003t0001 a0001c0003t0019 a0001c0004t0002 a0001c0004t0005 a0001c0005t0004 a0001c0006t0001 a0001c0006t0003 a0001c0007t0001 a0001c0008t0003 a0001c0009t0005 a0001c0009t0017 a0001c0010t0001 a0001c0011t0003 a0001c0015t0004 a0001c0017t0001 a0001c0018t0001 a0001c0019t0007 a0001c0020t0005 a0001c0021t0009 a0001c0024t0001 a0001c0025t0003 a0001c0026t0012 a0001c0027t0001 a0001c0028t0001 a0001c0029t0001 a0001c0030t0015 a0001c0031t0001 a0001c0032t0004 a0001c0033t0002 a0001c0034t0004 a0001c0039t0003 a0001c0040t0010 a0001c0041t0002 a0001c0050t0004 a0001c0051t0001 a0001c0052t0022 a0001c0053t0001 a0001c0054t0001 a0001c0055t0012 a0001c0056t0007 a0001c0057t0007 a0001c0058t0001 a0001c0059t0004 a0001c0060t0002 a0001c0061t0001 a0001c0062t0004 a0001c0063t0004 a0001c0067t0016 a0001c0068t0002 a0001c0069t0002 a0001c0070t0002 a0001c0071t0002 a0001c0072t0003 a0001c0073t0002 a0001c0074t0002 a0001c0075t0005 a0001c0076t0011 a0001c0077t0002 a0001c0078t0011 a0001c0079t0011 a0002c0035t0002 a0002c0036t0002 a0002c0036t0010 a0002c0037t0008 a0002c0038t0002 a0002c0064t0013 a0002c0065t0008 a0004c0014t0001 a0004c0049t0001 a0008c0080t0001 a0009c0066t0013	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0003g0003 a0001c0001t0020g0001 a0001c0001t0023g0003 a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0001g0029 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0053 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0021g0002 a0001c0003t0001g0001 a0001c0003t0001g0006 a0001c0003t0001g0010 a0001c0003t0001g0014 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0091 a0001c0003t0001g0103 a0001c0003t0001g0106 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0019g0010 a0001c0004t0002g0005 a0001c0004t0002g0023 a0001c0004t0002g0061 a0001c0004t0002g0066 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0070 a0001c0004t0002g0076 a0001c0004t0005g0005 a0001c0004t0005g0030 a0001c0005t0004g0004 a0001c0005t0004g0060 a0001c0005t0004g0083 a0001c0006t0001g0001 a0001c0006t0001g0002 a0001c0006t0001g0003 a0001c0006t0001g0010 a0001c0006t0001g0016 a0001c0006t0001g0036 a0001c0006t0001g0048 a0001c0006t0001g0109 a0001c0006t0001g0110 a0001c0006t0003g0002 a0001c0007t0001g0002 a0001c0007t0001g0013 a0001c0007t0001g0072 a0001c0007t0001g0092 a0001c0008t0003g0009 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0008t0003g0079 a0001c0009t0005g0007 a0001c0009t0005g0037 a0001c0009t0017g0007 a0001c0010t0001g0006 a0001c0010t0001g0056 a0001c0010t0001g0102 a0001c0011t0003g0022 a0001c0011t0003g0028 a0001c0015t0004g0017 a0001c0017t0001g0038 a0001c0017t0001g0062 a0001c0017t0001g0087 a0001c0018t0001g0003 a0001c0019t0007g0024 a0001c0020t0005g0007 a0001c0020t0005g0037 a0001c0021t0009g0012 a0001c0021t0009g0075 a0001c0024t0001g0002 a0001c0024t0001g0063 a0001c0025t0003g0009 a0001c0026t0012g0025 a0001c0027t0001g0042 a0001c0028t0001g0010 a0001c0028t0001g0105 a0001c0029t0001g0001 a0001c0029t0001g0008 a0001c0030t0015g0034 a0001c0031t0001g0039 a0001c0032t0004g0004 a0001c0032t0004g0074 a0001c0033t0002g0032 a0001c0034t0004g0004 a0001c0039t0003g0041 a0001c0040t0010g0054 a0001c0040t0010g0055 a0001c0041t0002g0005 a0001c0050t0004g0004 a0001c0051t0001g0001 a0001c0052t0022g0073 a0001c0053t0001g0002 a0001c0054t0001g0001 a0001c0055t0012g0025 a0001c0056t0007g0033 a0001c0057t0007g0033 a0001c0058t0001g0016 a0001c0059t0004g0004 a0001c0060t0002g0084 a0001c0061t0001g0001 a0001c0062t0004g0004 a0001c0063t0004g0004 a0001c0067t0016g0065 a0001c0068t0002g0023 a0001c0069t0002g0005 a0001c0070t0002g0067 a0001c0071t0002g0064 a0001c0072t0003g0071 a0001c0073t0002g0005 a0001c0074t0002g0058 a0001c0075t0005g0030 a0001c0076t0011g0012 a0001c0077t0002g0005 a0001c0078t0011g0012 a0001c0079t0011g0012 a0002c0035t0002g0040 a0002c0036t0002g0098 a0002c0036t0010g0031 a0002c0037t0008g0094 a0002c0037t0008g0095 a0002c0038t0002g0031 a0002c0038t0002g0082 a0002c0064t0013g0080 a0002c0065t0008g0096 a0004c0014t0001g0001 a0004c0014t0001g0104 a0004c0049t0001g0001 a0008c0080t0001g0029 a0009c0066t0013g0081	381	403	0.9454	-1	c.250 others(4): Show c.250delC	p.Leu others(4): Show p.Leu84fs	NUTM2A	ENSG00000184923.12	transcript	ENST00000381707.6	protein_coding	1/7	633/3290	250/2637	84/878	INFO_REALIGN_3_PRIME	chr10	TogoVar
NXF1_chr11_62787130_62810440	62797327	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00735.hp2 HG02572.hp1 others(6): Show HG00438.hp2 HG00735.hp2 HG02572.hp1 NA18963.hp1 NA18977.hp2 NA18978.hp1 NA19002.hp1 NA19030.hp1 NA19077.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0001 a0003c0004t0001 a0002c0003t0001 a0003c0004t0001	a0002c0003t0001g0032 a0002c0003t0001g0042 a0002c0003t0001g0092 others(3): Show a0002c0003t0001g0032 a0002c0003t0001g0042 a0002c0003t0001g0092 a0002c0003t0001g0109 a0003c0004t0001g0020 a0003c0004t0001g0059	9	406	0.0222	1	c.111 others(5): Show c.1112dupC	p.Pro others(5): Show p.Pro372fs	NXF1	ENSG00000162231.14	transcript	ENST00000294172.7	protein_coding	12/21	1196/2290	1112/1860	371/619		chr11	TogoVar
NXF3_chrX_103070810_103098143	103079228	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0111 a0004c0007t0001g0111	1	314	0.0032	1	c.137 others(5): Show c.1370dupT	p.Lys others(5): Show p.Lys458fs	NXF3	ENSG00000147206.17	transcript	ENST00000395065.8	protein_coding	16/20	1490/1956	1370/1596	457/531		chrX	TogoVar
NXF3_chrX_103070810_103098143	103080198	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0111 a0004c0007t0001g0111	1	314	0.0032	1	c.945 others(4): Show c.945dupC	p.Arg others(5): Show p.Arg316fs	NXF3	ENSG00000147206.17	transcript	ENST00000395065.8	protein_coding	11/20	1065/1956	945/1596	315/531		chrX	TogoVar
NXNL1_chr19_17450425_17465926	17455721	C C	CCACGCGG others(18): Show CCACGCGGTACTTGTGGCGGCGCAGG	frameshift_variant frameshift_variant	HIGH	NA20300.hp2 NA20300.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0001 a0000c0008t0001	a0000c0008t0001g0040 a0000c0008t0001g0040	1	408	0.0025	25	c.540 others(32): Show c.540_564dupCCTGCGCCGCCACAAGTACCGCGTG	p.Glu others(5): Show p.Glu189fs	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding	2/2	621/918	564/639	188/212		chr19	TogoVar
NYAP1_chr7_100478927_100499802	100488620	ACCGCCGC others(33): Show ACCGCCGCCCAGCTTCAGCCCTCCCGAGCCGGAGGGACGGG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0013 a0009c0010t0013	a0009c0010t0013g0003 a0009c0010t0013g0003	1	366	0.0027	-40	c.900 others(47): Show c.900_939delCCGCCGCCCAGCTTCAGCCCTCCCGAGCCGGAGGGACG GG	p.His others(5): Show p.His300fs	NYAP1	ENSG00000166924.9	transcript	ENST00000300179.7	protein_coding	4/7	1059/3584	900/2526	300/841		chr7	TogoVar
NYNRIN_chr14_24394003_24424283	24415697	C C	CTCTACGG others(9): Show CTCTACGGGATAGTGGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19081.hp2 NA19081.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0003 a0014c0022t0003	a0014c0022t0003g0201 a0014c0022t0003g0201	1	450	0.0022	16	c.394 others(25): Show c.3949_3950insCTACGGGATAGTGGTT	p.Phe others(6): Show p.Phe1317fs	NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	9/9	4051/7635	3950/5697	1317/1898	INFO_REALIGN_3_PRIME	chr14	TogoVar
NYX_chrX_41442343_41480652	41473599	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18991.hp1 NA18991.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0064 a0005c0008t0002g0064	1	310	0.0032	1	c.133 others(4): Show c.133dupC	p.Arg others(4): Show p.Arg45fs	NYX	ENSG00000188937.7	transcript	ENST00000378220.3	protein_coding	3/3	364/2414	134/1431	45/476	INFO_REALIGN_3_PRIME	chrX	TogoVar
NYX_chrX_41442343_41480652	41473992	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0243 a0007c0013t0001g0243	1	310	0.0032	1	c.524 others(8): Show c.524_525insT	p.Leu others(5): Show p.Leu176fs	NYX	ENSG00000188937.7	transcript	ENST00000378220.3	protein_coding	3/3	755/2414	525/1431	175/476		chrX	TogoVar
NYX_chrX_41442343_41480652	41474723	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0009 a0000c0009t0009	a0000c0009t0009g0042 a0000c0009t0009g0042	1	310	0.0032	1	c.125 others(5): Show c.1258dupG	p.Val others(5): Show p.Val420fs	NYX	ENSG00000188937.7	transcript	ENST00000378220.3	protein_coding	3/3	1489/2414	1259/1431	420/476	INFO_REALIGN_3_PRIME	chrX	TogoVar
OCRL_chrX_129535259_129597556	129540751	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19063.hp1 NA19063.hp1	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0001 a0006c0003t0001	a0006c0003t0001g0067 a0006c0003t0001g0067	1	278	0.0036	1	c.50d others(3): Show c.50dupG	p.Met others(4): Show p.Met18fs	OCRL	ENSG00000122126.18	transcript	ENST00000371113.9	protein_coding	2/24	232/5173	51/2706	17/901	INFO_REALIGN_3_PRIME	chrX	TogoVar
OCRL_chrX_129535259_129597556	129557880	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0152 a0005c0007t0003g0152	1	278	0.0036	1	c.371 others(4): Show c.371dupC	p.Glu others(5): Show p.Glu125fs	OCRL	ENSG00000122126.18	transcript	ENST00000371113.9	protein_coding	6/24	553/5173	372/2706	124/901	INFO_REALIGN_3_PRIME	chrX	TogoVar

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