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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Results per page.

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	distance	status	chr	external
NMNAT2_chr1_183243237_183423380	183389845	GAAAAAAG others(15): Show GAAAAAAGAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19007.hp1 NA19086.hp1 others(1): Show HG02109.hp1 NA19007.hp1 NA19086.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0019 a0001c0001t0047 others(1): Show a0001c0001t0016 a0001c0001t0019 a0001c0001t0047 a0001c0001t0073	a0001c0001t0016g0253 a0001c0001t0019g0052 a0001c0001t0047g0075 others(1): Show a0001c0001t0016g0253 a0001c0001t0019g0052 a0001c0001t0047g0075 a0001c0001t0073g0033	4	258	0.0155	-22	c.85+ others(39): Show c.85+28316_85+28337delTCTTTCTTTCTTTCTCTTTTTT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139596916	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03486.hp1 NA19062.hp1 others(1): Show HG02273.hp1 HG03486.hp1 NA19062.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0166 a0001c0001t0001g0246 a0001c0001t0001g0301 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0246 a0001c0001t0001g0301 a0001c0001t0011g0154	4	322	0.0124	-22	c.110 others(41): Show c.110-17883_110-17862delTATATATATATATATATATATA		NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6						chr3	TogoVar
NMRAL1_chr16_4456694_4479625	4479039	TACTCGGG others(15): Show TACTCGGGAGGCTGAGCAAGGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0007 a0001c0003t0003g0007	1	373	0.0027	-22	c.-45 others(33): Show c.-4542_-4521delCTCCTTGCTCAGCCTCCCGAGT		NMRAL1	ENSG00000153406.14	transcript	ENST00000283429.11	protein_coding					4415		chr16	TogoVar
NMRK1_chr9_75055577_75093155	75060860	AACACACA others(15): Show AACACACACACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp1 NA19063.hp1 NA18950.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0025 a0001c0004t0025 a0001c0001t0025 a0001c0004t0025	a0001c0001t0025g0167 a0001c0004t0025g0170 a0001c0001t0025g0167 a0001c0004t0025g0170	2	418	0.0048	-22	c.66 others(31): Show c.666_*687delGTGTGTGTGTGTGTGTGTGTGT		NMRK1	ENSG00000106733.21	transcript	ENST00000361092.9	protein_coding	9/9				666		chr9	TogoVar
NMT1_chr17_45056317_45114016	45100862	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG01257.hp1 others(1): Show HG01074.hp1 HG01106.hp2 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 others(1): Show a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0277	4	386	0.0104	-22	c.993 others(39): Show c.993+1362_993+1383delAAAAAAAAAAAAAAAAAAAAAA		NMT1	ENSG00000136448.13	transcript	ENST00000258960.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
NMT2_chr10_15100770_15173693	15112200	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	276	0.0036	-22	c.133 others(39): Show c.1338+574_1338+595delAAAAAATATATATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112208	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0107 a0001c0001t0033g0107	1	276	0.0036	-22	c.133 others(39): Show c.1338+566_1338+587delAAAAAAAAAAAAAATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15139863	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00621.hp1 others(47): Show HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG01123.hp2 HG01243.hp1 HG01952.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA19005.hp2 NA19030.hp1 NA19058.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0044 a0001c0002t0010 a0001c0002t0019 a0001c0002t0031 a0001c0002t0032 a0002c0008t0010	a0001c0001t0001g0035 a0001c0001t0001g0140 a0001c0001t0001g0155 others(47): Show a0001c0001t0001g0035 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0254 a0001c0001t0001g0267 a0001c0001t0003g0049 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0004g0002 a0001c0001t0004g0095 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0119 a0001c0001t0004g0269 a0001c0001t0005g0005 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0207 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0257 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0115 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0127 a0001c0001t0011g0249 a0001c0001t0012g0275 a0001c0001t0013g0111 a0001c0001t0017g0228 a0001c0001t0017g0258 a0001c0001t0023g0001 a0001c0001t0026g0100 a0001c0001t0033g0107 a0001c0001t0034g0098 a0001c0001t0040g0062 a0001c0001t0044g0116 a0001c0002t0010g0011 a0001c0002t0010g0012 a0001c0002t0019g0130 a0001c0002t0019g0131 a0001c0002t0031g0270 a0001c0002t0032g0101 a0002c0008t0010g0013	50	276	0.1812	-22	c.246 others(39): Show c.246+1537_246+1558delTATATATATATATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	2/11						chr10	TogoVar
NMUR1_chr2_231518187_231535445	231525942	GCATGCAC others(15): Show GCATGCACACACACAGACACACA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(63): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01943.hp1 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp2 HG03471.hp2 HG03579.hp2 HG03710.hp2 NA18939.hp1 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18990.hp2 NA18994.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA20300.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0009 a0010	a0001c0001 a0003c0002 a0004c0005 others(3): Show a0001c0001 a0003c0002 a0004c0005 a0007c0009 a0009c0011 a0010c0012	a0001c0001t0001 a0001c0001t0013 a0003c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0013 a0003c0002t0001 a0004c0005t0001 a0007c0009t0001 a0009c0011t0001 a0010c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0028 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0013g0069 a0003c0002t0001g0040 a0003c0002t0001g0073 a0003c0002t0001g0083 a0004c0005t0001g0037 a0007c0009t0001g0070 a0009c0011t0001g0079 a0010c0012t0001g0080	66	428	0.1542	-22	c.899 others(37): Show c.899-539_899-518delTGTGTGTCTGTGTGTGTGCATG		NMUR1	ENSG00000171596.7	transcript	ENST00000305141.5	protein_coding	2/2						chr2	TogoVar
NMUR2_chr5_152386546_152410279	152407852	ATTATATA others(15): Show ATTATATATAATATATATAAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0008 a0005c0014t0008	a0005c0014t0008g0056 a0005c0014t0008g0056	1	446	0.0022	-22	c.-27 others(33): Show c.-2761_-2740delATCTTATATATATTATATATAA		NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding					2574		chr5	TogoVar
NOA1_chr4_56958350_56982606	56965693	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp2 others(127): Show HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0003c0003 a0004c0005 others(1): Show a0001c0001 a0003c0003 a0004c0005 a0008c0013	a0001c0001t0001 a0003c0003t0001 a0004c0005t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0004c0005t0001 a0008c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0024 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0003c0003t0001g0051 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0004c0005t0001g0053 a0004c0005t0001g0054 a0004c0005t0001g0055 a0008c0013t0001g0132	130	410	0.3171	-22	c.176 others(39): Show c.1764+905_1764+926delACACACACACACACACACACAC		NOA1	ENSG00000084092.7	transcript	ENST00000264230.5	protein_coding	5/6						chr4	TogoVar
NOC3L_chr10_94328226_94367939	94331820	ATGAGTCC others(15): Show ATGAGTCCCTTTGAAACACATAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02647.hp1 HG02451.hp1 HG02622.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	3	380	0.0079	-22	c.23 others(33): Show c.2335_*2356delGTATGTGTTTCAAAGGGACTCA		NOC3L	ENSG00000173145.11	transcript	ENST00000371361.3	protein_coding					1405		chr10	TogoVar
NOD2_chr16_50688606_50738075	50732315	TTCCTCCC others(15): Show TTCCTCCCCTCCTCCTGGACTCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0140 a0001c0001t0007g0140	1	312	0.0032	-22	c.49 others(31): Show c.498_*519delCCTCCCCTCCTCCTGGACTCCT		NOD2	ENSG00000167207.15	transcript	ENST00000647318.2	protein_coding	12/12				498	INFO_REALIGN_3_PRIME	chr16	TogoVar
NOL10_chr2_10565754_10694975	10587046	TATATATA others(15): Show TATATATATACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	372	0.0027	-22	c.184 others(41): Show c.1844+1975_1844+1996delGTATATATATATGTATATATAT		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NOL3_chr16_67165538_67180737	67176054	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03654.hp1 HG04115.hp1 HG03453.hp2 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0003g0015 a0001c0001t0001g0033 a0001c0001t0003g0015	3	298	0.0101	-22	c.10 others(33): Show c.1001_*1022delGTGTGTGTGTGTGTGTGTGTGT		NOL3	ENSG00000140939.15	transcript	ENST00000564992.2	protein_coding					318		chr16	TogoVar
NOL4L_chr20_32438059_32590333	32488786	CCTTCCTT others(15): Show CCTTCCTTTCTTTCTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0075 a0001c0001t0023g0075	1	196	0.0051	-22	c.700 others(41): Show c.700-14066_700-14045delAAAAAGAAAGAAAGAAAGGAAG		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488790	CCTTTCTT others(15): Show CCTTTCTTTCTTTCTTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA19240.hp1 HG00733.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0048 a0001c0001t0006g0017 a0001c0001t0002g0048 a0001c0001t0006g0017	2	196	0.0102	-22	c.700 others(41): Show c.700-14070_700-14049delAAAGAAAAAGAAAGAAAGAAAG		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOL4_chr18_33846100_34229913	33886785	CTATAGAT others(15): Show CTATAGATATATCTATATACGTA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0092 a0001c0001t0001g0093	2	168	0.0119	-22	c.154 others(41): Show c.1543-3383_1543-3362delTACGTATATAGATATATCTATA		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	9/10						chr18	TogoVar
NOL6_chr9_33456353_33478924	33475154	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0102 a0001c0001t0023g0102	1	438	0.0023	-22	c.-13 others(33): Show c.-1334_-1313delAAAATATATATATATATATATA		NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding					1231		chr9	TogoVar
NOL6_chr9_33456353_33478924	33475156	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 NA18612.hp2 HG03471.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0028 a0001c0002 a0001c0028	a0001c0002t0003 a0001c0028t0003 a0001c0002t0003 a0001c0028t0003	a0001c0002t0003g0008 a0001c0028t0003g0088 a0001c0002t0003g0008 a0001c0028t0003g0088	2	438	0.0046	-22	c.-13 others(33): Show c.-1336_-1315delAAAAAATATATATATATATATA		NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding					1233		chr9	TogoVar
NOL6_chr9_33456353_33478924	33475158	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	438	0.0023	-22	c.-13 others(33): Show c.-1338_-1317delAAAAAAAATATATATATATATA		NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding					1235		chr9	TogoVar
NOL7_chr6_13610335_13626712	13611220	TATATATA others(15): Show TATATATATATATATATACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02818.hp2 others(2): Show HG01891.hp1 HG02622.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0004 a0002c0004t0003 a0001c0005t0004 a0002c0004t0003	a0001c0005t0004g0022 a0002c0004t0003g0012 a0001c0005t0004g0022 a0002c0004t0003g0012	5	452	0.0111	-22	c.-41 others(33): Show c.-4138_-4117delATATATATATATATATACACAC		NOL7	ENSG00000225921.7	transcript	ENST00000451315.7	protein_coding					4114		chr6	TogoVar
NOL7_chr6_13610335_13626712	13611224	TATATATA others(15): Show TATATATATATATACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	452	0.0022	-22	c.-41 others(33): Show c.-4134_-4113delATATATATATATACACACACAC		NOL7	ENSG00000225921.7	transcript	ENST00000451315.7	protein_coding					4110		chr6	TogoVar
NOP16_chr5_176378946_176393598	176390307	AACCTTCC others(15): Show AACCTTCCTTCAGATGAGGCCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-22	c.-17 others(33): Show c.-1790_-1769delGAGGCCTCATCTGAAGGAAGGT		NOP16	ENSG00000048162.22	transcript	ENST00000614830.5	protein_coding					1710		chr5	TogoVar
NOS1AP_chr1_162064691_162375475	162107942	CATTGACA others(15): Show CATTGACATTTGAACAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp1 HG03139.hp1 others(3): Show HG01069.hp1 HG01109.hp1 HG03139.hp1 HG03195.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 a0001c0003t0006	a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0020g0104 others(3): Show a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0020g0104 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0003t0006g0088	6	182	0.0330	-22	c.105 others(41): Show c.105+37661_105+37682delATTGACATTTGAACAATAAAAT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9						chr1	TogoVar
NOS1_chr12_117203142_117366626	117359874	TTTTATAT others(15): Show TTTTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0041 a0001c0005t0029g0041	1	294	0.0034	-22	c.-42 others(41): Show c.-421+1616_-421+1637delTATATATATATATATATATAAA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117359876	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18966.hp2 NA18967.hp1 others(2): Show NA18945.hp2 NA18966.hp2 NA18967.hp1 NA18989.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0023 a0001c0002 a0001c0005 a0001c0023	a0001c0002t0007 a0001c0002t0174 a0001c0005t0003 others(1): Show a0001c0002t0007 a0001c0002t0174 a0001c0005t0003 a0001c0023t0015	a0001c0002t0007g0018 a0001c0002t0007g0019 a0001c0002t0174g0181 others(2): Show a0001c0002t0007g0018 a0001c0002t0007g0019 a0001c0002t0174g0181 a0001c0005t0003g0180 a0001c0023t0015g0039	5	294	0.0170	-22	c.-42 others(41): Show c.-421+1614_-421+1635delTATATATATATATATATATATA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28						chr12	TogoVar
NOS3_chr7_150986017_151019588	151002383	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02027.hp1 HG02056.hp1 others(9): Show HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02451.hp2 HG04199.hp2 NA18966.hp1 NA18973.hp1 NA18981.hp1 NA18999.hp1 NA19002.hp2 NA19010.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0074 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0074 a0001c0001t0001g0137 a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0263 a0001c0002t0003g0058	12	382	0.0314	-22	c.175 others(39): Show c.1752+128_1752+149delACACACACACACACACACACAC		NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
NOSTRIN_chr2_168797637_168870514	168834493	GCGCGCGC others(15): Show GCGCGCGCGCGCGCGCACACACA	G G	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0306 a0002c0003t0001g0306	1	326	0.0031	-22	c.504 others(37): Show c.504+170_504+191delGCGCGCGCGCGCGCACACACAC		NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149416396	TCTTCTCT others(15): Show TCTTCTCTGAGCAGCAGGCCATG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0013 a0013	a0013c0028 a0013c0028	a0013c0028t0027 a0013c0028t0027	a0013c0028t0027g0004 a0013c0028t0027g0004	1	260	0.0039	-22	c.136 others(41): Show c.136-14537_136-14516delAGCAGCAGGCCATGCTTCTCTG		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	119950180	CAGATTCA others(15): Show CAGATTCAAAGAGACCTACAGGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp2 HG02257.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0100 a0001c0001t0001g0063 a0001c0001t0001g0100	2	168	0.0119	-22	c.247 others(39): Show c.2479+522_2479+543delACCTGTAGGTCTCTTTGAATCT		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	15/33						chr1	TogoVar
NOTUM_chr17_81947507_81966187	81960859	GGCGCAGT others(15): Show GGCGCAGTGCAGCAGGCTCAGCA	G G	frameshift_variant frameshift_variant	HIGH	HG01169.hp2 HG01169.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0016 a0011c0008t0016	a0011c0008t0016g0126 a0011c0008t0016g0126	1	384	0.0026	-22	c.29_ others(27): Show c.29_50delTGCTGAGCCTGCTGCACTGCGC	p.Leu others(4): Show p.Leu10fs	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding	1/11	328/2223	29/1491	10/496			chr17	TogoVar
NOVA1_chr14_26438090_26603033	26511050	TGTACTGT others(15): Show TGTACTGTGTCCTCCATAAGAAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp2 others(96): Show HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG01071.hp1 HG01106.hp1 HG01167.hp2 HG01243.hp1 HG01257.hp2 HG01433.hp1 HG01891.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19075.hp1 NA19076.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0032	a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0130 others(96): Show a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0136 a0001c0001t0004g0144 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0152 a0001c0001t0004g0158 a0001c0001t0004g0164 a0001c0001t0004g0170 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0005g0222 a0001c0001t0006g0019 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0053 a0001c0001t0007g0215 a0001c0001t0010g0211 a0001c0001t0010g0223 a0001c0001t0011g0007 a0001c0001t0013g0006 a0001c0001t0013g0009 a0001c0001t0016g0241 a0001c0001t0016g0244 a0001c0001t0017g0242 a0001c0001t0017g0243 a0001c0001t0019g0008 a0001c0001t0020g0005 a0001c0001t0022g0041 a0001c0001t0023g0179 a0001c0001t0025g0153 a0001c0001t0027g0168 a0001c0001t0028g0169 a0001c0001t0033g0239 a0001c0001t0034g0238 a0001c0001t0035g0240 a0001c0002t0032g0228	99	244	0.4057	-22	c.281 others(41): Show c.281-30929_281-30908delGTTCTTATGGAGGACACAGTAC		NOVA1	ENSG00000139910.20	transcript	ENST00000539517.7	protein_coding	2/4						chr14	TogoVar
NOXRED1_chr14_77389021_77428523	77406614	CACACACA others(15): Show CACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG02809.hp2 others(3): Show HG01109.hp1 HG02630.hp2 HG02809.hp2 HG03041.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0001t0013 a0001c0006t0005 a0001c0001t0005 a0001c0001t0013 a0001c0006t0005	a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 others(3): Show a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0188 a0001c0001t0013g0256 a0001c0006t0005g0187	6	298	0.0201	-22	c.682 others(36): Show c.682+88_682+109delCTGTGTGTGTGTGTGTGTGTGT		NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	4/5						chr14	TogoVar
NOXRED1_chr14_77389021_77428523	77406616	CACACACA others(15): Show CACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0183 a0001c0001t0005g0183	1	298	0.0034	-22	c.682 others(36): Show c.682+86_682+107delCTCTGTGTGTGTGTGTGTGTGT		NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	4/5						chr14	TogoVar
NPAS1_chr19_47014837_47050775	47027536	CTCTGCCC others(15): Show CTCTGCCCCTGGTCTCCTGTCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00609.hp1 others(55): Show HG00280.hp1 HG00408.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01261.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02071.hp1 HG02083.hp1 HG02148.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02735.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03710.hp2 HG04184.hp2 NA18522.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18961.hp1 NA18973.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19009.hp2 NA19043.hp2 NA19060.hp1 NA19074.hp1 NA19083.hp2 NA20129.hp2 NA21309.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0017 a0005c0010 a0006c0012 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0017t0001 a0005c0010t0001 a0006c0012t0001 a0007c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0088 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0149 a0001c0001t0001g0186 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0246 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0359 a0001c0001t0001g0365 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0376 a0001c0001t0001g0380 a0001c0001t0002g0004 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0074 a0001c0002t0001g0085 a0001c0002t0001g0111 a0001c0002t0001g0121 a0001c0002t0001g0212 a0001c0002t0001g0224 a0001c0002t0001g0260 a0001c0002t0001g0280 a0001c0002t0001g0318 a0001c0002t0001g0374 a0001c0002t0001g0375 a0001c0002t0001g0384 a0001c0002t0001g0385 a0001c0002t0001g0408 a0001c0002t0001g0410 a0001c0003t0001g0022 a0001c0003t0001g0073 a0001c0003t0001g0134 a0001c0003t0001g0247 a0001c0003t0001g0263 a0001c0004t0001g0361 a0001c0005t0001g0327 a0001c0007t0001g0261 a0001c0008t0001g0363 a0001c0017t0001g0086 a0005c0010t0001g0308 a0006c0012t0001g0072 a0007c0011t0001g0297	58	418	0.1388	-22	c.359 others(39): Show c.359-4725_359-4704delTGTCTGTCTGCCCCTGGTCTCC		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS1_chr19_47014837_47050775	47027624	CTCTGCCC others(15): Show CTCTGCCCCTGGTCTCCCGTCTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0414 a0003c0015t0001g0414	1	418	0.0024	-22	c.359 others(39): Show c.359-4636_359-4615delGTCTGTCTGCCCCTGGTCTCCC		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS1_chr19_47014837_47050775	47033975	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	418	0.0024	-22	c.522 others(39): Show c.522+1268_522+1289delAAAAAAAAAAAAAAAAAAAAAA		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS2_chr2_100815139_101001829	100873679	GATATTAT others(15): Show GATATTATAAAGTGCTTACTTTC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00609.hp2 others(39): Show HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG01257.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02602.hp1 HG02735.hp1 HG03239.hp2 HG03492.hp1 HG04228.hp1 NA18612.hp1 NA18944.hp2 NA18945.hp1 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18982.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19088.hp1 NA20905.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0011	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0002c0005 a0008c0017 a0009c0018 a0011c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0009 a0001c0007t0002 a0002c0003t0001 a0002c0003t0003 a0002c0005t0002 a0002c0005t0013 a0008c0017t0004 a0009c0018t0001 a0011c0015t0003	a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 others(39): Show a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0004g0241 a0001c0001t0005g0039 a0001c0001t0017g0125 a0001c0002t0001g0047 a0001c0002t0001g0142 a0001c0002t0004g0176 a0001c0002t0004g0244 a0001c0002t0004g0255 a0001c0004t0001g0023 a0001c0004t0002g0081 a0001c0004t0002g0085 a0001c0004t0002g0181 a0001c0004t0002g0270 a0001c0004t0009g0073 a0001c0004t0009g0079 a0001c0007t0002g0111 a0002c0003t0001g0050 a0002c0003t0003g0048 a0002c0003t0003g0076 a0002c0003t0003g0078 a0002c0003t0003g0105 a0002c0003t0003g0143 a0002c0005t0002g0019 a0002c0005t0002g0042 a0002c0005t0002g0046 a0002c0005t0013g0198 a0008c0017t0004g0184 a0009c0018t0001g0049 a0011c0015t0003g0177	42	288	0.1458	-22	c.-22 others(41): Show c.-22-31050_-22-31029delTTATAAAGTGCTTACTTTCATA		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	33207245	ACACACAC others(15): Show ACACACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01261.hp2 others(9): Show HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG02258.hp1 HG02717.hp1 HG02897.hp2 HG02965.hp2 HG03471.hp1 HG06807.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0048 a0001c0001t0054 a0002c0002t0055 a0002c0004t0008 a0002c0005t0047	a0001c0001t0001g0069 a0001c0001t0003g0002 a0001c0001t0004g0012 others(9): Show a0001c0001t0001g0069 a0001c0001t0003g0002 a0001c0001t0004g0012 a0001c0001t0014g0071 a0001c0001t0027g0057 a0001c0001t0030g0029 a0001c0001t0032g0084 a0001c0001t0048g0045 a0001c0001t0054g0043 a0002c0002t0055g0046 a0002c0004t0008g0063 a0002c0005t0047g0051	12	92	0.1304	-22	c.141 others(39): Show c.141-7915_141-7894delGCACACACACACACACACACAC		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33284770	ATCTATCT others(15): Show ATCTATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp1 HG02258.hp2 others(2): Show HG00140.hp1 HG01175.hp1 HG02258.hp2 HG02602.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0007t0060	a0001c0001t0001g0004 a0001c0001t0002g0062 a0001c0001t0007g0083 others(2): Show a0001c0001t0001g0004 a0001c0001t0002g0062 a0001c0001t0007g0083 a0001c0001t0007g0087 a0001c0007t0060g0042	5	92	0.0544	-22	c.385 others(41): Show c.385+69346_385+69367delCTATCTATCTATCTATCTATCT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR1_chr8_52934182_52948734	52937115	GTGTGTAT others(15): Show GTGTGTATATACACACGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02040.hp1 HG02071.hp1 others(22): Show HG00609.hp2 HG02040.hp1 HG02071.hp1 HG02135.hp1 HG02135.hp2 NA18612.hp1 NA18943.hp2 NA18946.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18966.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18989.hp1 NA18998.hp1 NA19004.hp2 NA19007.hp2 NA19058.hp1 NA19064.hp1 NA19067.hp1 NA19086.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0037 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0037 a0001c0001t0038	a0001c0001t0002g0001 a0001c0001t0015g0001 a0001c0001t0037g0001 others(1): Show a0001c0001t0002g0001 a0001c0001t0015g0001 a0001c0001t0037g0001 a0001c0001t0038g0001	25	416	0.0601	-22	c.-24 others(33): Show c.-2448_-2427delTGTGTATATACACACGTGTGTA		NPBWR1	ENSG00000288611.1	transcript	ENST00000674939.1	protein_coding					2066		chr8	TogoVar
NPC1L1_chr7_44507535_44546330	44529110	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03239.hp1 HG03195.hp2 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0072 a0002c0005t0001g0190 a0001c0001t0001g0072 a0002c0005t0001g0190	2	320	0.0063	-22	c.263 others(41): Show c.2637+2623_2637+2644delGTGTGTGTGTGTGTGTGTGTGT		NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding	10/18						chr7	TogoVar
NPFFR2_chr4_72027000_72153305	72075998	CACACACA others(15): Show CACACACACAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01891.hp1 HG02723.hp1 others(3): Show HG01433.hp2 HG01891.hp1 HG02723.hp1 HG03540.hp1 NA18982.hp1 NA18983.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0004c0007t0010 a0001c0001t0001 a0001c0001t0002 a0004c0007t0010	a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0207 a0001c0001t0002g0195 a0004c0007t0010g0303	6	344	0.0174	-22	c.-8+ others(39): Show c.-8+43799_-8+43820delACACACACAGAGAGAGAGAGAG		NPFFR2	ENSG00000056291.19	transcript	ENST00000308744.12	protein_coding	1/3						chr4	TogoVar
NPHP4_chr1_5857811_5997425	5879822	CACACACA others(15): Show CACACACACGCAAACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG01255.hp2 HG02004.hp1 HG02602.hp1 HG02735.hp2 HG04115.hp1 NA18944.hp1 NA18956.hp2 NA18969.hp1 NA19011.hp2 NA19030.hp1 NA19066.hp2 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA21309.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0004 a0001c0017 a0004c0009 others(2): Show a0001c0004 a0001c0017 a0004c0009 a0004c0016 a0012c0019	a0001c0004t0001 a0001c0017t0001 a0004c0009t0001 others(2): Show a0001c0004t0001 a0001c0017t0001 a0004c0009t0001 a0004c0016t0001 a0012c0019t0001	a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(19): Show a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 a0001c0004t0001g0174 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0185 a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0004t0001g0191 a0001c0004t0001g0194 a0001c0017t0001g0188 a0004c0009t0001g0186 a0004c0009t0001g0192 a0004c0016t0001g0184 a0012c0019t0001g0176	22	208	0.1058	-22	c.261 others(39): Show c.2611+270_2611+291delCTGTGTGTGTTTGCGTGTGTGT		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	19/29						chr1	TogoVar
NPIPB12_chr16_29478534_29511408	29479694	AACACACA others(15): Show AACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0003 a0007c0013t0003	a0007c0013t0003g0005 a0007c0013t0003g0005	1	21	0.0476	-22	c.39 others(33): Show c.3973_*3994delGTGTGTGTGTGTGTGTGTGTGT		NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding					3839		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30219035	AACACACA others(15): Show AACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG02015.hp1 others(9): Show HG00544.hp1 HG00558.hp1 HG02015.hp1 HG02135.hp1 HG02818.hp1 HG03017.hp2 HG03041.hp1 NA19011.hp1 NA19030.hp1 NA19062.hp2 NA19084.hp1 NA19088.hp1	a0004 a0025 a0032 others(3): Show a0004 a0025 a0032 a0033 a0034 a0061	a0004c0005 a0004c0046 a0025c0067 others(4): Show a0004c0005 a0004c0046 a0025c0067 a0032c0044 a0033c0045 a0034c0048 a0061c0076	a0004c0005t0007 a0004c0005t0008 a0004c0005t0011 others(6): Show a0004c0005t0007 a0004c0005t0008 a0004c0005t0011 a0004c0046t0007 a0025c0067t0007 a0032c0044t0023 a0033c0045t0001 a0034c0048t0007 a0061c0076t0002	a0004c0005t0007g0029 a0004c0005t0008g0030 a0004c0005t0008g0031 others(9): Show a0004c0005t0007g0029 a0004c0005t0008g0030 a0004c0005t0008g0031 a0004c0005t0008g0033 a0004c0005t0008g0065 a0004c0005t0011g0014 a0004c0046t0007g0028 a0025c0067t0007g0027 a0032c0044t0023g0144 a0033c0045t0001g0056 a0034c0048t0007g0026 a0061c0076t0002g0135	12	145	0.0828	-22	c.39 others(33): Show c.3972_*3993delGTGTGTGTGTGTGTGTGTGTGT		NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding					3861		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30244483	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02886.hp2 others(1): Show HG02559.hp1 HG02818.hp2 HG02886.hp2 NA18974.hp2	a0009 a0020 a0046 a0009 a0020 a0046	a0009c0034 a0009c0036 a0020c0035 others(1): Show a0009c0034 a0009c0036 a0020c0035 a0046c0020	a0009c0034t0006 a0009c0036t0006 a0020c0035t0006 others(1): Show a0009c0034t0006 a0009c0036t0006 a0020c0035t0006 a0046c0020t0003	a0009c0034t0006g0022 a0009c0036t0006g0020 a0020c0035t0006g0021 others(1): Show a0009c0034t0006g0022 a0009c0036t0006g0020 a0020c0035t0006g0021 a0046c0020t0003g0104	4	145	0.0276	-22	c.120 others(37): Show c.120+949_120+970delCACACACACACACACACACACA		NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	2/7						chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28776652	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0025 a0025	a0025c0020 a0025c0020	a0025c0020t0005 a0025c0020t0005	a0025c0020t0005g0169 a0025c0020t0005g0169	1	179	0.0056	-22	c.38 others(33): Show c.3898_*3919delTGTGTGTGTGTGTGTGTGTGTG		NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding					3789		chr16	TogoVar
NPM2_chr8_22019134_22041897	22021909	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02886.hp1 others(2): Show HG01884.hp2 HG02486.hp1 HG02886.hp1 HG03225.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0092 a0001c0001t0001g0004 a0001c0001t0001g0092	5	434	0.0115	-22	c.-28 others(33): Show c.-2854_-2833delAAAAAAAAAAAAAAAAAAAAAA		NPM2	ENSG00000158806.14	transcript	ENST00000518119.6	protein_coding					2224		chr8	TogoVar

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