Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NOL12_chr22_37681343_37698474	37695316	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03516.hp1 NA18906.hp1 HG03195.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0019 a0001c0001t0010g0006 a0001c0001t0002g0019 a0001c0001t0010g0006	3	424	0.0071	17	c.39 others(28): Show c.3980_*3981insAAAAAAAAAAAAAAAAA	NOL12	ENSG00000273899.5	transcript	ENST00000359114.9	protein_coding		1843		chr22	TogoVar
NOL4L_chr20_32438059_32590333	32462903	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp1 HG01358.hp2 others(9): Show HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG03130.hp1 HG03927.hp1 HG04115.hp1 NA18979.hp1 NA18980.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0043	a0001c0001t0001g0066 a0001c0001t0001g0111 a0001c0001t0001g0139 others(9): Show a0001c0001t0001g0066 a0001c0001t0001g0111 a0001c0001t0001g0139 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0109 a0001c0001t0004g0037 a0001c0001t0004g0148 a0001c0001t0019g0153 a0001c0001t0043g0108	12	196	0.0612	17	c.842 others(34): Show c.842-6525_842-6509dupTTTTTTTTTTTTTTTTT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	5/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32485058	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01981.hp2 HG02818.hp1 others(6): Show HG00323.hp1 HG01981.hp2 HG02818.hp1 HG03942.hp1 HG04199.hp2 NA18982.hp2 NA19012.hp2 NA19070.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0044 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0044 a0001c0002t0033	a0001c0001t0001g0046 a0001c0001t0001g0100 a0001c0001t0001g0119 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0100 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0005g0173 a0001c0001t0044g0195 a0001c0002t0033g0159	9	196	0.0459	17	c.700 others(36): Show c.700-10333_700-10317dupTTTTTTTTTTTTTTTTT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578150	G G	GGGAGGGA others(10): Show GGGAGGGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0090 a0001c0001t0037g0090	1	196	0.0051	17	c.321 others(34): Show c.321+6419_321+6420insTCTCCCTCCCTCCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4_chr18_33846100_34229913	34099362	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02818.hp1 others(4): Show HG01243.hp1 HG01891.hp2 HG02818.hp1 NA18612.hp1 NA18941.hp2 NA19084.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0053 a0001c0001t0001g0074 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0053 a0001c0001t0001g0074 a0001c0001t0001g0116 a0001c0001t0003g0032 a0001c0001t0003g0087 a0001c0001t0003g0156	7	168	0.0417	17	c.639 others(34): Show c.639+4684_639+4685insTTTTTTTTTTTTTTTTT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	4/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34203685	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	168	0.0060	17	c.264 others(36): Show c.264+19304_264+19305insAGAGAGAGAGAGAGAGA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	1/10			chr18	TogoVar
NOM1_chr7_156944712_156978176	156954522	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00639.hp2 others(27): Show HG00140.hp2 HG00544.hp2 HG00639.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp2 HG01928.hp1 HG01975.hp1 HG02293.hp2 HG02602.hp2 HG02738.hp1 HG03831.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19007.hp2 NA19058.hp2 NA19065.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp1 NA19090.hp1	a0003 a0004 a0021 others(2): Show a0003 a0004 a0021 a0023 a0024	a0003c0003 a0004c0005 a0021c0039 others(2): Show a0003c0003 a0004c0005 a0021c0039 a0023c0036 a0024c0034	a0003c0003t0002 a0003c0003t0010 a0003c0003t0027 others(6): Show a0003c0003t0002 a0003c0003t0010 a0003c0003t0027 a0003c0003t0029 a0004c0005t0001 a0004c0005t0012 a0021c0039t0019 a0023c0036t0002 a0024c0034t0001	a0003c0003t0002g0001 a0003c0003t0002g0020 a0003c0003t0002g0062 others(15): Show a0003c0003t0002g0001 a0003c0003t0002g0020 a0003c0003t0002g0062 a0003c0003t0002g0064 a0003c0003t0002g0217 a0003c0003t0002g0218 a0003c0003t0002g0219 a0003c0003t0002g0221 a0003c0003t0002g0251 a0003c0003t0010g0001 a0003c0003t0027g0001 a0003c0003t0029g0220 a0004c0005t0001g0061 a0004c0005t0001g0063 a0004c0005t0012g0061 a0021c0039t0019g0020 a0023c0036t0002g0222 a0024c0034t0001g0063	30	426	0.0704	17	c.130 others(34): Show c.1308+228_1308+244dupTTTTTTTTTTTTTTTTT	NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
NONO_chrX_71278635_71306168	71281777	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	229	0.0044	17	c.-20 others(28): Show c.-2011_-2010insTTTTTTTTTTTTTTTTT	NONO	ENSG00000147140.17	transcript	ENST00000276079.13	protein_coding		1857		chrX	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0176 a0001c0003t0005g0136 a0001c0001t0005g0176 a0001c0003t0005g0136	2	182	0.0110	17	c.105 others(36): Show c.105+11493_105+11494insATATATATTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162125130	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0069 a0001c0001t0021g0069	1	182	0.0055	17	c.106 others(36): Show c.106-29270_106-29254dupTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18942.hp1 NA18945.hp2 others(2): Show HG00544.hp2 NA18942.hp1 NA18945.hp2 NA19074.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0033 a0001c0003t0003	a0001c0001t0001g0038 a0001c0001t0002g0028 a0001c0001t0004g0037 others(2): Show a0001c0001t0001g0038 a0001c0001t0002g0028 a0001c0001t0004g0037 a0001c0002t0033g0107 a0001c0003t0003g0008	5	182	0.0275	17	c.177 others(36): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162255490	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0174 a0001c0001t0012g0174	1	182	0.0055	17	c.178 others(36): Show c.178-31835_178-31819dupTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162289196	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02818.hp2 HG01069.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0094 a0001c0003t0003g0168 a0001c0001t0002g0094 a0001c0003t0003g0168	2	182	0.0110	17	c.270 others(34): Show c.270+1774_270+1775insCCTTTCCTTCCTTCCTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162324416	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0012 a0001c0003t0006g0012	1	182	0.0055	17	c.345 others(34): Show c.345-8589_345-8573dupTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117208391	C C	CGGTGTGT others(10): Show CGGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0083 a0001c0028t0083	a0001c0028t0083g0289 a0001c0028t0083g0289	1	294	0.0034	17	c.69 others(28): Show c.6917_*6918insACACACACACACACACC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	29/29	6917		chr12	TogoVar
NOS1_chr12_117203142_117366626	117208422	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0121 a0001c0027t0121	a0001c0027t0121g0100 a0001c0027t0121g0100	1	294	0.0034	17	c.68 others(28): Show c.6886_*6887insACACACACACACACACA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	29/29	6886		chr12	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp2 HG00738.hp2 others(18): Show HG00621.hp1 HG00733.hp2 HG00738.hp2 HG01123.hp2 HG01192.hp1 HG01258.hp1 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG02074.hp2 HG03927.hp2 HG04199.hp2 NA18947.hp1 NA19000.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19068.hp2 NA19074.hp2	a0001 a0016 a0001 a0016	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0028 a0016c0020	a0001c0002t0001 a0001c0002t0019 a0001c0002t0035 others(13): Show a0001c0002t0001 a0001c0002t0019 a0001c0002t0035 a0001c0002t0037 a0001c0003t0036 a0001c0003t0037 a0001c0004t0002 a0001c0004t0005 a0001c0004t0034 a0001c0004t0133 a0001c0004t0140 a0001c0004t0141 a0001c0007t0002 a0001c0007t0022 a0001c0028t0083 a0016c0020t0154	a0001c0002t0001g0055 a0001c0002t0019g0005 a0001c0002t0035g0063 others(18): Show a0001c0002t0001g0055 a0001c0002t0019g0005 a0001c0002t0035g0063 a0001c0002t0037g0085 a0001c0003t0036g0150 a0001c0003t0037g0061 a0001c0004t0002g0028 a0001c0004t0005g0149 a0001c0004t0005g0232 a0001c0004t0005g0248 a0001c0004t0005g0263 a0001c0004t0005g0264 a0001c0004t0034g0266 a0001c0004t0133g0277 a0001c0004t0140g0159 a0001c0004t0141g0200 a0001c0007t0002g0160 a0001c0007t0022g0030 a0001c0007t0022g0117 a0001c0028t0083g0289 a0016c0020t0154g0268	21	294	0.0714	17	c.253 others(36): Show c.2531+2112_2531+2113insAAAAAAAAAAAAAAAAA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28			chr12	TogoVar
NOS2_chr17_27751766_27805529	27784133	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	402	0.0025	17	c.468 others(34): Show c.468-1028_468-1027insGTGTGTGTGTGTGTGTG	NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	5/26			chr17	TogoVar
NOS2_chr17_27751766_27805529	27791769	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0303 a0002c0003t0002g0303	1	402	0.0025	17	c.111 others(34): Show c.111-2082_111-2081insTTTTTTTTTTTTTTTTT	NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	2/26			chr17	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146200175	T T	TTTGGGAG others(10): Show TTTGGGAGGCCGAGGTGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0020 a0001c0001t0009g0020	1	60	0.0167	17	c.-44 others(36): Show c.-44-10811_-44-10795dupCCACCTCGGCCTCCCAA	NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4			chr1	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146219800	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp1 HG00558.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0034 a0001c0001t0018 a0001c0001t0034	a0001c0001t0018g0021 a0001c0001t0034g0025 a0001c0001t0018g0021 a0001c0001t0034g0025	2	60	0.0333	17	c.-45 others(34): Show c.-45+8908_-45+8909insATATATATATATATATA	NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4			chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390404	A A	AGGCGCGG others(10): Show AGGCGCGGCGGCCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp1 others(90): Show HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp2 HG01891.hp2 HG01952.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03130.hp1 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19077.hp2 NA19078.hp2 NA19082.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0003 a0005 others(14): Show a0001 a0003 a0005 a0006 a0009 a0010 a0011 a0012 a0013 a0014 a0018 a0020 a0024 a0026 a0029 a0030 a0031	a0001c0001 a0001c0019 a0001c0032 others(20): Show a0001c0001 a0001c0019 a0001c0032 a0003c0003 a0005c0005 a0006c0007 a0009c0023 a0010c0012 a0010c0017 a0010c0033 a0011c0011 a0012c0009 a0012c0034 a0013c0010 a0014c0028 a0018c0015 a0020c0039 a0020c0040 a0024c0038 a0026c0031 a0029c0026 a0030c0054 a0031c0036	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 others(35): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0019t0035 a0001c0032t0002 a0003c0003t0001 a0005c0005t0007 a0005c0005t0011 a0005c0005t0058 a0005c0005t0059 a0006c0007t0006 a0009c0023t0001 a0010c0012t0011 a0010c0012t0017 a0010c0017t0002 a0010c0033t0002 a0011c0011t0006 a0012c0009t0013 a0012c0034t0002 a0013c0010t0039 a0014c0028t0027 a0018c0015t0015 a0018c0015t0047 a0020c0039t0031 a0020c0040t0029 a0024c0038t0032 a0026c0031t0002 a0029c0026t0002 a0030c0054t0013 a0031c0036t0030	a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 others(90): Show a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0076 a0001c0001t0002g0256 a0001c0001t0009g0016 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0009g0030 a0001c0001t0009g0035 a0001c0001t0016g0048 a0001c0001t0016g0055 a0001c0001t0016g0061 a0001c0001t0022g0006 a0001c0001t0022g0007 a0001c0001t0023g0025 a0001c0001t0023g0037 a0001c0001t0024g0019 a0001c0001t0050g0059 a0001c0001t0051g0029 a0001c0001t0052g0049 a0001c0001t0054g0053 a0001c0001t0055g0062 a0001c0019t0035g0074 a0001c0032t0002g0060 a0003c0003t0001g0181 a0005c0005t0007g0008 a0005c0005t0007g0009 a0005c0005t0007g0010 a0005c0005t0007g0063 a0005c0005t0007g0064 a0005c0005t0007g0065 a0005c0005t0007g0066 a0005c0005t0007g0067 a0005c0005t0007g0068 a0005c0005t0007g0069 a0005c0005t0011g0249 a0005c0005t0058g0070 a0005c0005t0059g0071 a0006c0007t0006g0091 a0009c0023t0001g0075 a0010c0012t0011g0239 a0010c0012t0011g0241 a0010c0012t0011g0243 a0010c0012t0017g0240 a0010c0012t0017g0244 a0010c0017t0002g0011 a0010c0017t0002g0046 a0010c0017t0002g0047 a0010c0033t0002g0024 a0011c0011t0006g0123 a0011c0011t0006g0151 a0012c0009t0013g0173 a0012c0034t0002g0018 a0013c0010t0039g0172 a0014c0028t0027g0004 a0018c0015t0015g0236 a0018c0015t0015g0237 a0018c0015t0015g0238 a0018c0015t0047g0235 a0020c0039t0031g0081 a0020c0040t0029g0082 a0024c0038t0032g0242 a0026c0031t0002g0033 a0029c0026t0002g0017 a0030c0054t0013g0174 a0031c0036t0030g0080	93	260	0.3577	17	c.-38 others(26): Show c.-384_-383insGGCGCGGCGGCCCCCGG	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding		216		chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149419855	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0061 a0001c0001t0016g0061	1	260	0.0039	17	c.136 others(36): Show c.136-11086_136-11085insATATATATATATTTTTT	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752555	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18974.hp1 NA18974.hp2 others(1): Show NA18957.hp2 NA18974.hp1 NA18974.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0148 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0158	4	164	0.0244	17	c.74- others(34): Show c.74-11073_74-11072insATATATATATATATATA	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0122 a0001c0021t0004g0122	1	168	0.0060	17	c.74- others(34): Show c.74-11085_74-11084insATATATATATATATTTT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH3_chr19_15154038_15205995	15173045	C C	CCCCCTCC others(10): Show CCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0018 a0002c0044t0018	a0002c0044t0018g0302 a0002c0044t0018g0302	1	340	0.0029	17	c.473 others(36): Show c.4736+1022_4736+1023insAGGGGGAGGGGGAGGGG	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15173045	C C	CCTCCTCC others(10): Show CCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01978.hp2 others(9): Show HG00741.hp2 HG01074.hp2 HG01978.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02976.hp1 HG03209.hp1 HG03471.hp2 HG04199.hp1 NA19030.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0012 a0040	a0001c0001 a0001c0009 a0002c0006 others(4): Show a0001c0001 a0001c0009 a0002c0006 a0002c0008 a0004c0014 a0012c0061 a0040c0062	a0001c0001t0001 a0001c0009t0001 a0002c0006t0003 others(5): Show a0001c0001t0001 a0001c0009t0001 a0002c0006t0003 a0002c0008t0003 a0004c0014t0001 a0004c0014t0019 a0012c0061t0003 a0040c0062t0003	a0001c0001t0001g0198 a0001c0001t0001g0325 a0001c0009t0001g0047 others(9): Show a0001c0001t0001g0198 a0001c0001t0001g0325 a0001c0009t0001g0047 a0002c0006t0003g0313 a0002c0008t0003g0115 a0002c0008t0003g0160 a0002c0008t0003g0162 a0004c0014t0001g0138 a0004c0014t0001g0205 a0004c0014t0019g0283 a0012c0061t0003g0090 a0040c0062t0003g0091	12	340	0.0353	17	c.473 others(36): Show c.4736+1022_4736+1023insAGGAGGAGGAGGAGGAG	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15176523	G G	GGCTAAGC others(10): Show GGCTAAGCTGGGTGGATT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0033 a0033	a0033c0055 a0033c0055	a0033c0055t0001 a0033c0055t0001	a0033c0055t0001g0234 a0033c0055t0001g0234	1	340	0.0029	17	c.440 others(35): Show c.4403+985_4403+1001dupAATCCACCCAGCTTAGC	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	24/32			chr19	TogoVar
NOTUM_chr17_81947507_81966187	81952348	G G	GGGAGGGG others(10): Show GGGAGGGGAGGGAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	384	0.0026	17	c.61 others(26): Show c.612_*613insTCCTCTCCCTCCCCTCC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		158		chr17	TogoVar
NOTUM_chr17_81947507_81966187	81952382	A A	AGGAGGGG others(10): Show AGGAGGGGAGGGAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	384	0.0026	17	c.57 others(26): Show c.578_*579insCCCTCTCCCTCCCCTCC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		124		chr17	TogoVar
NOVA2_chr19_45928734_45978865	45964584	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0294 a0001c0002t0002g0294	1	402	0.0025	17	c.86- others(32): Show c.86-3432_86-3431insGAGAGAGAGAGAGAGAG	NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding	1/3			chr19	TogoVar
NOX3_chr6_155390368_155460839	155416744	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02145.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0003 a0001c0003t0001 a0001c0004t0003	a0001c0003t0001g0073 a0001c0004t0003g0015 a0001c0003t0001g0073 a0001c0004t0003g0015	2	362	0.0055	17	c.130 others(36): Show c.1309-5401_1309-5385dupAAAAAAAAAAAAAAAAA	NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	10/13			chr6	TogoVar
NOX4_chr11_89319353_89496375	89325115	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0099 a0001c0002t0099	a0001c0002t0099g0286 a0001c0002t0099g0286	1	288	0.0035	17	c.16 others(28): Show c.1624_*1640dupAAAAAAAAAAAAAAAAA	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	18/18	1640		chr11	TogoVar
NOX4_chr11_89319353_89496375	89346579	A A	AAATGGCT others(10): Show AAATGGCTCTCAGGCACT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0012 a0001c0001t0016g0012	1	288	0.0035	17	c.121 others(36): Show c.1218-4387_1218-4386insAGTGCCTGAGAGCCATT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	13/17			chr11	TogoVar
NOX5_chr15_69009695_69067762	69045536	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	396	0.0025	17	c.164 others(36): Show c.1648-1286_1648-1285insCTTTCTTTCTTTCTTTC	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15			chr15	TogoVar
NOXRED1_chr14_77389021_77428523	77408892	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01099.hp1 others(4): Show HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01515.hp1 HG01517.hp2 HG02647.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0147 a0001c0001t0002g0206 a0001c0001t0002g0213 others(4): Show a0001c0001t0002g0147 a0001c0001t0002g0206 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0006g0259	7	298	0.0235	17	c.350 others(34): Show c.350-1264_350-1248dupAAAAAAAAAAAAAAAAA	NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	2/5			chr14	TogoVar
NPAS2_chr2_100815139_101001829	100979503	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0088 a0001c0004t0002g0088	1	288	0.0035	17	c.148 others(36): Show c.1482+1704_1482+1705insATATATATATATATATA	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	15/20			chr2	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	92	0.0109	17	c.-79 others(26): Show c.-793_-792insGAGAGAGAGAGAGAGAG	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding		354		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33004817	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG02965.hp2 HG02630.hp1 HG02630.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0042 a0001c0001t0052 a0002c0005t0047 a0001c0001t0042 a0001c0001t0052 a0002c0005t0047	a0001c0001t0042g0070 a0001c0001t0052g0054 a0002c0005t0047g0051 a0001c0001t0042g0070 a0001c0001t0052g0054 a0002c0005t0047g0051	3	92	0.0326	17	c.51- others(34): Show c.51-51085_51-51069dupTTTTTTTTTTTTTTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33077774	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	92	0.0109	17	c.140 others(36): Show c.140+21795_140+21796insTTTTTTTTTTTTTTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33538028	T T	TAGAACAT others(10): Show TAGAACATAAACCTGTGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0021	1	92	0.0109	17	c.469 others(36): Show c.469-22090_469-22089insACATAAACCTGTGCAGA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544762	T T	TGCATGTA others(10): Show TGCATGTATGTGTTTATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00738.hp2 others(41): Show HG00140.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18968.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0005 a0003c0006 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0050 a0001c0001t0053 a0001c0003t0043 a0002c0002t0002 a0002c0002t0011 a0002c0002t0028 a0002c0002t0055 a0002c0004t0008 a0002c0005t0012 a0002c0005t0015 a0002c0005t0047 a0003c0006t0013 a0004c0008t0060	a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0069 others(41): Show a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0062 a0001c0001t0003g0002 a0001c0001t0004g0007 a0001c0001t0004g0012 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0006g0020 a0001c0001t0007g0083 a0001c0001t0010g0055 a0001c0001t0011g0016 a0001c0001t0013g0022 a0001c0001t0014g0071 a0001c0001t0014g0080 a0001c0001t0019g0073 a0001c0001t0021g0036 a0001c0001t0022g0015 a0001c0001t0024g0009 a0001c0001t0029g0035 a0001c0001t0034g0088 a0001c0001t0035g0076 a0001c0001t0040g0078 a0001c0001t0042g0070 a0001c0001t0044g0092 a0001c0001t0050g0089 a0001c0001t0053g0048 a0001c0003t0043g0091 a0002c0002t0002g0019 a0002c0002t0011g0027 a0002c0002t0028g0031 a0002c0002t0055g0046 a0002c0004t0008g0003 a0002c0005t0012g0005 a0002c0005t0015g0068 a0002c0005t0047g0051 a0003c0006t0013g0001 a0004c0008t0060g0042	44	92	0.4783	17	c.469 others(36): Show c.469-15358_469-15342dupGCATGTATGTGTTTATG	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33582970	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp2 HG02818.hp2 others(3): Show HG01884.hp2 HG02647.hp2 HG02818.hp2 HG03041.hp1 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0019 a0001c0001t0050 a0001c0001t0057	a0001c0001t0002g0038 a0001c0001t0006g0041 a0001c0001t0011g0016 others(3): Show a0001c0001t0002g0038 a0001c0001t0006g0041 a0001c0001t0011g0016 a0001c0001t0019g0073 a0001c0001t0050g0089 a0001c0001t0057g0037	6	92	0.0652	17	c.558 others(36): Show c.558+22776_558+22777insTTTTTTTTTTTTTTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPC1_chr18_23526442_23591506	23550479	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG03041.hp1 others(1): Show HG02630.hp2 HG02896.hp2 HG03041.hp1 NA19001.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0008c0009t0001 a0001c0001t0001 a0002c0002t0001 a0008c0009t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0002c0002t0001g0088 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0002c0002t0001g0088 a0008c0009t0001g0084	4	378	0.0106	17	c.165 others(36): Show c.1654+1131_1654+1147dupAAAAAAAAAAAAAAAAA	NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24			chr18	TogoVar
NPEPL1_chr20_58687800_58720844	58688623	G G	GGTGTGTG others(10): Show GGTGTGTGTGTGTGTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02572.hp2 others(4): Show HG01891.hp2 HG02451.hp2 HG02572.hp2 HG02723.hp2 HG02976.hp2 NA19079.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0015 a0003c0018 a0001c0003 a0003c0015 a0003c0018	a0001c0003t0003 a0001c0003t0005 a0003c0015t0005 others(1): Show a0001c0003t0003 a0001c0003t0005 a0003c0015t0005 a0003c0018t0003	a0001c0003t0003g0088 a0001c0003t0003g0118 a0001c0003t0005g0089 others(4): Show a0001c0003t0003g0088 a0001c0003t0003g0118 a0001c0003t0005g0089 a0001c0003t0005g0090 a0003c0015t0005g0084 a0003c0015t0005g0087 a0003c0018t0003g0110	7	398	0.0176	17	c.-42 others(28): Show c.-4278_-4277insGTGTGTGTGTGTGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding		4176		chr20	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp2 HG01884.hp2 others(4): Show HG00544.hp1 HG01069.hp2 HG01884.hp2 HG02148.hp1 HG02647.hp1 NA19000.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0029 a0001c0001t0002g0091 a0001c0001t0002g0100 others(4): Show a0001c0001t0002g0029 a0001c0001t0002g0091 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0003g0120	7	342	0.0205	17	c.255 others(34): Show c.255+6654_255+6670dupTTTTTTTTTTTTTTTTT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NPFFR1_chr10_70242329_70289004	70272188	G G	GAGGAAAG others(10): Show GAGGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0102 a0001c0002t0011g0102	1	368	0.0027	17	c.8-5 others(30): Show c.8-5814_8-5798dupTTCTTTCTTTCTTTCCT	NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3			chr10	TogoVar
NPFFR1_chr10_70242329_70289004	70272215	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04199.hp1 NA18954.hp1 HG03834.hp1 HG04199.hp1 NA18954.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0023 a0001c0002t0107 a0002c0003t0047 a0001c0001t0023 a0001c0002t0107 a0002c0003t0047	a0001c0001t0023g0260 a0001c0002t0107g0254 a0002c0003t0047g0253 a0001c0001t0023g0260 a0001c0002t0107g0254 a0002c0003t0047g0253	3	368	0.0082	17	c.8-5 others(30): Show c.8-5841_8-5825dupCTTTCTTTCTTTCTTTC	NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3			chr10	TogoVar
NPFFR1_chr10_70242329_70289004	70272244	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(93): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02015.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02523.hp1 HG02602.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp1 NA18985.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA19087.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016 a0002c0003 a0002c0004 a0003c0006 a0004c0008 a0005c0009 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0045 a0001c0001t0049 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0069 a0001c0001t0098 a0001c0001t0102 a0001c0001t0109 a0001c0001t0113 a0001c0001t0132 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0029 a0001c0002t0123 a0001c0002t0126 a0001c0005t0001 a0001c0005t0007 a0001c0005t0041 a0001c0005t0063 a0001c0016t0009 a0002c0003t0003 a0002c0003t0071 a0002c0003t0090 a0002c0003t0091 a0002c0003t0093 a0002c0003t0103 a0002c0004t0004 a0002c0004t0005 a0003c0006t0038 a0003c0006t0039 a0003c0006t0085 a0003c0006t0117 a0004c0008t0014 a0004c0008t0110 a0005c0009t0004 a0005c0009t0005 a0006c0011t0046	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0099 a0001c0001t0001g0116 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0002g0021 a0001c0001t0002g0265 a0001c0001t0002g0286 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0334 a0001c0001t0006g0142 a0001c0001t0006g0217 a0001c0001t0007g0117 a0001c0001t0009g0013 a0001c0001t0009g0141 a0001c0001t0015g0010 a0001c0001t0016g0237 a0001c0001t0018g0018 a0001c0001t0025g0166 a0001c0001t0030g0101 a0001c0001t0030g0183 a0001c0001t0034g0192 a0001c0001t0035g0078 a0001c0001t0035g0096 a0001c0001t0045g0143 a0001c0001t0049g0287 a0001c0001t0056g0079 a0001c0001t0057g0080 a0001c0001t0060g0238 a0001c0001t0061g0115 a0001c0001t0069g0149 a0001c0001t0098g0112 a0001c0001t0102g0247 a0001c0001t0109g0288 a0001c0001t0113g0325 a0001c0001t0132g0333 a0001c0002t0008g0289 a0001c0002t0008g0293 a0001c0002t0010g0228 a0001c0002t0011g0129 a0001c0002t0012g0264 a0001c0002t0012g0292 a0001c0002t0029g0157 a0001c0002t0123g0291 a0001c0002t0126g0290 a0001c0005t0001g0034 a0001c0005t0001g0041 a0001c0005t0007g0040 a0001c0005t0041g0039 a0001c0005t0063g0090 a0001c0016t0009g0182 a0002c0003t0003g0128 a0002c0003t0003g0202 a0002c0003t0071g0162 a0002c0003t0090g0155 a0002c0003t0091g0206 a0002c0003t0093g0156 a0002c0003t0103g0248 a0002c0004t0004g0216 a0002c0004t0005g0113 a0002c0004t0005g0235 a0003c0006t0038g0219 a0003c0006t0039g0220 a0003c0006t0085g0218 a0003c0006t0117g0285 a0004c0008t0014g0094 a0004c0008t0014g0207 a0004c0008t0110g0263 a0005c0009t0004g0230 a0005c0009t0005g0114 a0005c0009t0005g0163 a0006c0011t0046g0191	96	368	0.2609	17	c.8-5 others(30): Show c.8-5854_8-5853insTCTTTCTTTCTTTCTTT	NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3			chr10	TogoVar
NPFFR1_chr10_70242329_70289004	70288967	G G	GAATTGAG others(10): Show GAATTGAGAAGTTCTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	368	0.0027	17	c.-52 others(28): Show c.-5292_-5291insTAAAGAACTTCTCAATT	NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding		4964		chr10	TogoVar

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