Joint Open Genome and Omics Platform (JoGo)

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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
NMU_chr4_55590231_55641298	55593359	T T	TAAAAATA others(12): Show TAAAAATAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	21	0.0476	19	c.20 others(30): Show c.2056_*2057insTTTTTTTTTTTTTATTTTT	NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding		1871		chr4	TogoVar
NNAT_chr20_37516250_37528690	37526541	A A	ACGCGTGG others(12): Show ACGCGTGGTTCTTGGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02723.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	406	0.0049	19	c.37 others(30): Show c.3782_*3783insCGCGTGGTTCTTGGTATAT	NNAT	ENSG00000053438.11	transcript	ENST00000649451.1	protein_coding		2852		chr20	TogoVar
NOBOX_chr7_144392240_144415227	144396798	T T	TGGCATCC others(12): Show TGGCATCCAATGACTGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	350	0.0029	19	c.44 others(28): Show c.441_*442insTGAGCAGTCATTGGATGCC	NOBOX	ENSG00000106410.15	transcript	ENST00000467773.1	protein_coding		441		chr7	TogoVar
NOC4L_chr12_132139457_132157468	132155710	A A	ACACCACT others(12): Show ACACCACTACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03486.hp2 HG03041.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0215 a0001c0001t0001g0083 a0001c0001t0001g0215	2	162	0.0123	19	c.33 others(30): Show c.3309_*3310insCACCACTACACACACACAC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		3243		chr12	TogoVar
NOCT_chr4_139010781_139050939	139039170	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18956.hp1 NA18984.hp2 HG01496.hp1 NA18956.hp1 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0007 a0001c0001t0004 a0002c0002t0007	a0001c0001t0004g0093 a0002c0002t0007g0042 a0001c0001t0004g0093 a0002c0002t0007g0042	3	22	0.1364	19	c.191 others(36): Show c.191-3887_191-3886insAAAAAAAAAAAAAAAAAAA	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NOL10_chr2_10565754_10694975	10690415	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 NA18988.hp1 HG01361.hp2 NA18988.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0143 a0002c0003t0003g0146 a0002c0003t0003g0143 a0002c0003t0003g0146	2	108	0.0185	19	c.-55 others(28): Show c.-555_-554insTTTTTTTTTTTTTTTTTTT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding		441		chr2	TogoVar
NOL4L_chr20_32438059_32590333	32485058	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01993.hp1 HG02080.hp1 others(3): Show HG01516.hp1 HG01993.hp1 HG02080.hp1 HG02622.hp2 HG02647.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0003g0168 others(3): Show a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0003g0168 a0001c0001t0005g0044 a0001c0001t0005g0096 a0001c0001t0015g0100	6	51	0.1176	19	c.700 others(38): Show c.700-10335_700-10317dupTTTTTTTTTTTTTTTTTTT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4_chr18_33846100_34229913	33887050	A A	AATATATA others(12): Show AATATATATCTATATATAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0152 a0001c0006t0003g0152	1	166	0.0060	19	c.154 others(38): Show c.1543-3645_1543-3627dupATTATATATAGATATATAT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	9/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0165 a0001c0001t0011g0165	1	35	0.0286	19	c.773 others(36): Show c.773-4594_773-4593insATATATATATATATATTTT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34099362	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01255.hp2 HG02080.hp2 others(10): Show HG01071.hp2 HG01255.hp2 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02300.hp2 HG02895.hp2 HG03486.hp1 HG03669.hp1 HG03704.hp2 HG04204.hp1 NA18979.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0065 others(10): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0002g0014 a0001c0001t0003g0090 a0001c0001t0004g0001	13	87	0.1494	19	c.639 others(36): Show c.639+4684_639+4685insTTTTTTTTTTTTTTTTTTT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	4/10			chr18	TogoVar
NOL6_chr9_33456353_33478924	33470998	C C	CACGGTGG others(12): Show CACGGTGGCTCACACCTGTA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	436	0.0023	19	c.379 others(34): Show c.379-826_379-808dupTACAGGTGTGAGCCACCGT	NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding	3/25			chr9	TogoVar
NOM1_chr7_156944712_156978176	156954522	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01346.hp2 others(12): Show HG01167.hp1 HG01169.hp2 HG01346.hp2 HG01934.hp1 HG02080.hp2 HG02818.hp2 HG02896.hp2 NA18522.hp1 NA18968.hp2 NA18986.hp2 NA19010.hp2 NA19011.hp1 NA19060.hp1 NA19068.hp2 NA19077.hp2	a0003 a0005 a0012 others(1): Show a0003 a0005 a0012 a0020	a0003c0003 a0003c0007 a0005c0006 others(2): Show a0003c0003 a0003c0007 a0005c0006 a0012c0023 a0020c0036	a0003c0003t0002 a0003c0007t0002 a0003c0007t0026 others(3): Show a0003c0003t0002 a0003c0007t0002 a0003c0007t0026 a0005c0006t0002 a0012c0023t0002 a0020c0036t0002	a0003c0003t0002g0069 a0003c0003t0002g0071 a0003c0003t0002g0233 others(10): Show a0003c0003t0002g0069 a0003c0003t0002g0071 a0003c0003t0002g0233 a0003c0003t0002g0237 a0003c0007t0002g0070 a0003c0007t0002g0230 a0003c0007t0002g0232 a0003c0007t0026g0231 a0005c0006t0002g0234 a0005c0006t0002g0236 a0005c0006t0002g0253 a0012c0023t0002g0235 a0020c0036t0002g0071	15	133	0.1128	19	c.130 others(36): Show c.1308+226_1308+244dupTTTTTTTTTTTTTTTTTTT	NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03017.hp1 HG01074.hp2 HG03017.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0032 a0006c0009t0001g0272 a0001c0001t0001g0032 a0006c0009t0001g0272	2	62	0.0323	19	c.180 others(36): Show c.1806+486_1806+487insATATATATATATATATTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	60	0.0167	19	c.105 others(38): Show c.105+11493_105+11494insATTTTTTTTTTTTTTTTTT	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(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp2 HG02280.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0032 a0001c0002t0009 a0001c0002t0032	a0001c0002t0009g0074 a0001c0002t0032g0177 a0001c0002t0009g0074 a0001c0002t0032g0177	2	146	0.0137	19	c.106 others(38): Show c.106-29272_106-29254dupTTTTTTTTTTTTTTTTTTT	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(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	25	0.0400	19	c.177 others(38): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117208409	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0072 a0001c0001t0142g0072	1	292	0.0034	19	c.68 others(30): Show c.6899_*6900insCACACACACACACACACAC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	29/29	6899		chr12	TogoVar
NOS1_chr12_117203142_117366626	117208422	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0218 a0001c0001t0098g0218	1	290	0.0034	19	c.68 others(30): Show c.6886_*6887insACACACACACACACACACA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	29/29	6886		chr12	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTGTGTT others(12): Show GTTGTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0149 a0001c0011t0149	a0001c0011t0149g0136 a0001c0011t0149g0136	1	86	0.0116	19	c.253 others(38): Show c.2531+2112_2531+2113insAAAAAAAAAAAAAACACAA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28			chr12	TogoVar
NOS2_chr17_27751766_27805529	27776397	G G	GTGCAGTG others(12): Show GTGCAGTGCTCACACCTGTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0239 a0002c0003t0001g0239	1	400	0.0025	19	c.128 others(38): Show c.1282-1947_1282-1946insTACAGGTGTGAGCACTGCA	NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	11/26			chr17	TogoVar
NOS3_chr7_150986017_151019588	150995607	C C	CCCCCCCT others(12): Show CCCCCCCTCCCATCCCACCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	380	0.0026	19	c.270 others(34): Show c.270+294_270+295insCCCCCTCCCATCCCACCTC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOSTRIN_chr2_168797637_168870514	168834505	G G	GCAGCGCG others(12): Show GCAGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	148	0.0068	19	c.504 others(34): Show c.504+181_504+182insAGCGCGCGCGCGCGCACAC	NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(12): Show GGGGGGTGGGCAGGGACAGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp2 NA19030.hp2 HG02258.hp1 HG03041.hp2 NA19030.hp2	a0001 a0005 a0014 a0001 a0005 a0014	a0001c0008 a0005c0050 a0014c0042 a0001c0008 a0005c0050 a0014c0042	a0001c0008t0004 a0005c0050t0023 a0014c0042t0002 a0001c0008t0004 a0005c0050t0023 a0014c0042t0002	a0001c0008t0004g0034 a0005c0050t0023g0134 a0014c0042t0002g0040 a0001c0008t0004g0034 a0005c0050t0023g0134 a0014c0042t0002g0040	3	141	0.0213	19	c.141 others(36): Show c.141-4415_141-4414insACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146207811	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	24	0.0417	19	c.-44 others(38): Show c.-44-18431_-44-18430insAAAAAAAAAAAAAAAAAAA	NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4			chr1	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146219800	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0010 a0001c0003t0009g0010	1	52	0.0192	19	c.-45 others(36): Show c.-45+8908_-45+8909insATATATATATATATATATA	NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4			chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149419855	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	146	0.0068	19	c.136 others(38): Show c.136-11086_136-11085insATATATATATATATATTTT	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149460913	T T	TTCTTTCT others(12): Show TTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0051 a0012c0011t0051	a0012c0011t0051g0091 a0012c0011t0051g0091	1	202	0.0050	19	c.470 others(36): Show c.470-2575_470-2574insTTCTTTCTTTCTTCTCTCT	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19088.hp1 NA18972.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0121 a0001c0001t0003g0107 a0001c0001t0003g0121	2	41	0.0488	19	c.74- others(36): Show c.74-11073_74-11072insATATATATATATATTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18962.hp1 NA18950.hp2 NA18962.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0003 a0004c0007t0001 a0001c0001t0003 a0004c0007t0001	a0001c0001t0003g0108 a0004c0007t0001g0076 a0001c0001t0003g0108 a0004c0007t0001g0076	2	41	0.0488	19	c.74- others(36): Show c.74-11073_74-11072insATATATATATATTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	40	0.0250	19	c.74- others(36): Show c.74-11073_74-11072insATATATATATTTTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	40	0.0250	19	c.74- others(36): Show c.74-11073_74-11072insATATATATTTTTTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0147 a0005c0004t0001g0147	1	40	0.0250	19	c.74- others(36): Show c.74-11073_74-11072insATATATTTTTTTTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752555	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	153	0.0065	19	c.74- others(36): Show c.74-11073_74-11072insATATATATATATATATATA	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041065	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0009 a0001c0002t0006g0009	1	130	0.0077	19	c.74- others(36): Show c.74-11079_74-11078insATATATATATATATATATA	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOX3_chr6_155390368_155460839	155431413	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0319 a0001c0004t0001g0319	1	27	0.0370	19	c.799 others(34): Show c.799-479_799-478insGTGTGTGTGTGTGTGTGTG	NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	7/13			chr6	TogoVar
NOX4_chr11_89319353_89496375	89346579	A A	AAATGGCT others(12): Show AAATGGCTCTCAAAGGCACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(190): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0012 a0002c0004 a0003c0013 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(96): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0048 a0001c0001t0052 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0072 a0001c0001t0075 a0001c0001t0078 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0002t0023 a0001c0002t0024 a0001c0002t0027 a0001c0002t0028 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0038 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0054 a0001c0002t0055 a0001c0002t0067 a0001c0002t0068 a0001c0002t0080 a0001c0002t0084 a0001c0002t0085 a0001c0002t0086 a0001c0002t0089 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0013 a0001c0003t0019 a0001c0003t0021 a0001c0003t0037 a0001c0003t0073 a0001c0003t0074 a0001c0003t0079 a0001c0003t0087 a0001c0005t0043 a0001c0005t0070 a0001c0009t0002 a0001c0012t0021 a0002c0004t0032 a0003c0013t0002 a0006c0008t0013	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0031 others(190): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0138 a0001c0001t0002g0223 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0280 a0001c0001t0002g0284 a0001c0001t0003g0142 a0001c0001t0003g0158 a0001c0001t0003g0166 a0001c0001t0003g0170 a0001c0001t0003g0182 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0178 a0001c0001t0007g0059 a0001c0001t0007g0061 a0001c0001t0007g0085 a0001c0001t0007g0102 a0001c0001t0007g0104 a0001c0001t0007g0133 a0001c0001t0008g0042 a0001c0001t0008g0047 a0001c0001t0008g0070 a0001c0001t0008g0100 a0001c0001t0009g0221 a0001c0001t0009g0230 a0001c0001t0009g0243 a0001c0001t0009g0257 a0001c0001t0009g0273 a0001c0001t0010g0125 a0001c0001t0010g0126 a0001c0001t0014g0036 a0001c0001t0014g0062 a0001c0001t0016g0099 a0001c0001t0016g0140 a0001c0001t0017g0160 a0001c0001t0017g0165 a0001c0001t0017g0171 a0001c0001t0017g0172 a0001c0001t0018g0143 a0001c0001t0018g0175 a0001c0001t0018g0187 a0001c0001t0019g0050 a0001c0001t0020g0009 a0001c0001t0020g0113 a0001c0001t0020g0124 a0001c0001t0021g0161 a0001c0001t0022g0155 a0001c0001t0025g0096 a0001c0001t0029g0163 a0001c0001t0030g0174 a0001c0001t0031g0176 a0001c0001t0031g0177 a0001c0001t0033g0216 a0001c0001t0033g0217 a0001c0001t0037g0281 a0001c0001t0039g0090 a0001c0001t0040g0139 a0001c0001t0041g0044 a0001c0001t0042g0043 a0001c0001t0048g0122 a0001c0001t0052g0094 a0001c0001t0056g0127 a0001c0001t0057g0105 a0001c0001t0058g0005 a0001c0001t0059g0092 a0001c0001t0060g0058 a0001c0001t0061g0106 a0001c0001t0062g0014 a0001c0001t0063g0095 a0001c0001t0064g0088 a0001c0001t0065g0091 a0001c0001t0066g0169 a0001c0001t0072g0179 a0001c0001t0075g0152 a0001c0001t0078g0151 a0001c0001t0081g0218 a0001c0001t0082g0215 a0001c0001t0083g0272 a0001c0001t0088g0233 a0001c0001t0090g0228 a0001c0001t0091g0224 a0001c0001t0093g0227 a0001c0001t0094g0222 a0001c0001t0095g0282 a0001c0001t0096g0241 a0001c0001t0097g0253 a0001c0001t0099g0278 a0001c0001t0100g0283 a0001c0001t0102g0287 a0001c0002t0006g0020 a0001c0002t0006g0024 a0001c0002t0006g0074 a0001c0002t0006g0080 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0089 a0001c0002t0011g0232 a0001c0002t0011g0236 a0001c0002t0011g0240 a0001c0002t0011g0249 a0001c0002t0011g0263 a0001c0002t0011g0279 a0001c0002t0012g0153 a0001c0002t0012g0156 a0001c0002t0012g0157 a0001c0002t0012g0173 a0001c0002t0023g0015 a0001c0002t0024g0046 a0001c0002t0027g0154 a0001c0002t0027g0168 a0001c0002t0028g0145 a0001c0002t0028g0159 a0001c0002t0034g0262 a0001c0002t0034g0285 a0001c0002t0035g0237 a0001c0002t0035g0250 a0001c0002t0036g0229 a0001c0002t0038g0234 a0001c0002t0038g0235 a0001c0002t0044g0021 a0001c0002t0045g0136 a0001c0002t0046g0023 a0001c0002t0054g0093 a0001c0002t0055g0115 a0001c0002t0067g0146 a0001c0002t0068g0183 a0001c0002t0080g0219 a0001c0002t0084g0286 a0001c0002t0085g0258 a0001c0002t0086g0276 a0001c0002t0089g0239 a0001c0003t0001g0052 a0001c0003t0003g0189 a0001c0003t0003g0193 a0001c0003t0003g0197 a0001c0003t0003g0201 a0001c0003t0003g0204 a0001c0003t0003g0212 a0001c0003t0003g0213 a0001c0003t0004g0037 a0001c0003t0004g0060 a0001c0003t0004g0071 a0001c0003t0004g0116 a0001c0003t0004g0117 a0001c0003t0004g0119 a0001c0003t0004g0120 a0001c0003t0005g0180 a0001c0003t0005g0184 a0001c0003t0005g0190 a0001c0003t0005g0194 a0001c0003t0005g0206 a0001c0003t0005g0208 a0001c0003t0010g0084 a0001c0003t0013g0041 a0001c0003t0013g0135 a0001c0003t0019g0118 a0001c0003t0019g0121 a0001c0003t0021g0202 a0001c0003t0037g0251 a0001c0003t0073g0195 a0001c0003t0074g0211 a0001c0003t0079g0196 a0001c0003t0087g0267 a0001c0005t0043g0137 a0001c0005t0070g0214 a0001c0009t0002g0275 a0001c0012t0021g0181 a0002c0004t0032g0144 a0002c0004t0032g0162 a0003c0013t0002g0220 a0006c0008t0013g0087	193	283	0.6820	19	c.121 others(38): Show c.1218-4387_1218-4386insAGTGCCTTTGAGAGCCATT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	13/17			chr11	TogoVar
NOX4_chr11_89319353_89496375	89399432	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	122	0.0082	19	c.107 others(36): Show c.1074+584_1074+585insATATATATATATATATATA	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	11/17			chr11	TogoVar
NOXRED1_chr14_77389021_77428523	77408892	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01358.hp1 HG02074.hp1 others(8): Show HG01175.hp2 HG01358.hp1 HG02074.hp1 HG02723.hp1 HG02738.hp2 HG02976.hp1 HG03654.hp2 HG03688.hp1 HG04115.hp1 NA18944.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0191 a0001c0001t0002g0211 others(7): Show a0001c0001t0002g0025 a0001c0001t0002g0191 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0251	11	28	0.3929	19	c.350 others(36): Show c.350-1266_350-1248dupAAAAAAAAAAAAAAAAAAA	NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	2/5			chr14	TogoVar
NPAS2_chr2_100815139_101001829	100877427	T T	TGCACTCT others(12): Show TGCACTCTAGCCTGGGCAAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp2 HG02572.hp1 others(12): Show HG01167.hp1 HG01261.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03139.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0006c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0004t0007 a0001c0008t0001 a0006c0027t0012	a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0003g0131 others(12): Show a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0238 a0001c0001t0003g0269 a0001c0001t0005g0129 a0001c0002t0001g0036 a0001c0002t0001g0126 a0001c0004t0007g0092 a0001c0008t0001g0132 a0001c0008t0001g0133 a0006c0027t0012g0139	15	286	0.0524	19	c.-22 others(38): Show c.-22-27306_-22-27305insGCACTCTAGCCTGGGCAAC	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20			chr2	TogoVar
NPAS2_chr2_100815139_101001829	100979503	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0258 a0005c0022t0001g0258	1	218	0.0046	19	c.148 others(38): Show c.1482+1704_1482+1705insATATATATATATATATATA	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	15/20			chr2	TogoVar
NPAS2_chr2_100815139_101001829	100989001	G G	GCTCCTCC others(12): Show GCTCCTCCAGGCCCCTGCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	286	0.0035	19	c.182 others(36): Show c.1827+739_1827+740insTGCTCCTCCTCCAGGCCCC	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03942.hp2 HG02258.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0002g0016 a0001c0001t0001g0006 a0001c0001t0002g0016	2	63	0.0317	19	c.-79 others(28): Show c.-793_-792insGAGAGAGAGAGAGAGAGAG	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding		354		chr14	TogoVar
NPAS3_chr14_32933879_33809173	32941301	C C	CTCCTCCC others(12): Show CTCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0009 a0001c0001t0024g0009	1	79	0.0127	19	c.50+ others(34): Show c.50+1938_50+1939insTCCCTCCTTCCTTCCTTCC	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33004817	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG01175.hp2 others(6): Show HG00735.hp1 HG01071.hp1 HG01175.hp2 HG02486.hp1 HG02922.hp2 HG03239.hp1 HG03942.hp1 NA18968.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0036 a0001c0001t0050 a0001c0001t0057	a0001c0001t0001g0066 a0001c0001t0002g0040 a0001c0001t0005g0034 others(6): Show a0001c0001t0001g0066 a0001c0001t0002g0040 a0001c0001t0005g0034 a0001c0001t0010g0008 a0001c0001t0015g0001 a0001c0001t0017g0064 a0001c0001t0036g0084 a0001c0001t0050g0010 a0001c0001t0057g0050	9	15	0.6000	19	c.51- others(36): Show c.51-51087_51-51069dupTTTTTTTTTTTTTTTTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33582970	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0009 a0001c0001t0024g0009	1	8	0.1250	19	c.558 others(38): Show c.558+22776_558+22777insTTTTTTTTTTTTTTTTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64103484	C C	CCCCTGGG others(12): Show CCCCTGGGTCGCTGGCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG03516.hp1 HG01934.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0051 a0001c0002t0006 a0001c0002t0051	a0001c0002t0006g0006 a0001c0002t0051g0055 a0001c0002t0006g0006 a0001c0002t0051g0055	2	353	0.0057	19	c.23 others(30): Show c.2327_*2345dupAGGAGCCAGCGACCCAGGG	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding		317		chr20	TogoVar
NPC1_chr18_23526442_23591506	23549742	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0344	1	361	0.0028	19	c.165 others(38): Show c.1655-1635_1655-1634insAAAAAAAAAAAAAAAAAAA	NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24			chr18	TogoVar
NPC1_chr18_23526442_23591506	23550479	C C	CTTCTTTT others(12): Show CTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19240.hp2 HG03486.hp1 NA19240.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0008 a0007c0008t0001g0008	2	53	0.0377	19	c.165 others(38): Show c.1654+1147_1654+1148insAAAAAAAAAAAAAAAAGAA	NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24			chr18	TogoVar
NPC1_chr18_23526442_23591506	23550479	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02559.hp2 HG02109.hp2 HG02486.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108	3	54	0.0556	19	c.165 others(38): Show c.1654+1129_1654+1147dupAAAAAAAAAAAAAAAAAAA	NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24			chr18	TogoVar
NPEPL1_chr20_58687800_58720844	58688623	G G	GGTGTGTG others(12): Show GGTGTGTGTGTGTGTGTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01081.hp2 HG01175.hp1 others(17): Show HG00609.hp1 HG01081.hp2 HG01175.hp1 HG02074.hp2 HG02257.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp2 NA18948.hp1 NA18971.hp2 NA18973.hp2 NA18988.hp1 NA19065.hp1 NA19065.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0003t0003 a0001c0003t0005 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0005 a0002c0002t0002 a0002c0006t0002	a0001c0001t0001g0023 a0001c0003t0003g0031 a0001c0003t0003g0093 others(15): Show a0001c0001t0001g0023 a0001c0003t0003g0031 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0111 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0117 a0001c0003t0003g0119 a0001c0003t0003g0120 a0001c0003t0005g0026 a0001c0003t0005g0073 a0001c0003t0005g0074 a0001c0003t0005g0075 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0006t0002g0251	20	372	0.0538	19	c.-42 others(30): Show c.-4278_-4277insGTGTGTGTGTGTGTGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding		4176		chr20	TogoVar

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