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
NALF1_chr13_107158510_107872496	107503742	GGTGTGTG others(11): Show GGTGTGTGTGTTTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02717.hp2 others(7): Show HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG03098.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0060 a0001c0001t0066 others(7): Show a0001c0001t0013 a0001c0001t0060 a0001c0001t0066 a0001c0001t0078 a0001c0001t0087 a0001c0001t0090 a0001c0002t0001 a0001c0002t0014 a0001c0002t0051 a0001c0002t0064	a0001c0001t0013g0068 a0001c0001t0060g0064 a0001c0001t0066g0028 others(7): Show a0001c0001t0013g0068 a0001c0001t0060g0064 a0001c0001t0066g0028 a0001c0001t0078g0092 a0001c0001t0087g0105 a0001c0001t0090g0089 a0001c0002t0001g0084 a0001c0002t0014g0076 a0001c0002t0051g0072 a0001c0002t0064g0078	10	128	0.0781	-18	c.916 others(39): Show c.916-293005_916-292988delACACACAAACACACACAC	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107754354	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0082 a0001c0002t0013g0082	1	128	0.0078	-18	c.915 others(39): Show c.915+111310_915+111327delGTGTGTGTGTGTGTGTGT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107754807	ACACTGAC others(11): Show ACACTGACAAGAACAATGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01433.hp1 HG00323.hp1 HG00642.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0081 a0001c0001t0095 a0001c0002t0067 a0001c0001t0081 a0001c0001t0095 a0001c0002t0067	a0001c0001t0081g0098 a0001c0001t0095g0127 a0001c0002t0067g0075 a0001c0001t0081g0098 a0001c0001t0095g0127 a0001c0002t0067g0075	3	128	0.0234	-18	c.915 others(39): Show c.915+110857_915+110874delGCATTGTTCTTGTCAGTG	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NANOGNB_chr12_7760216_7779121	7764486	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	460	0.0022	-18	c.-79 others(27): Show c.-799_-782delAATAATAATAATAATAAT	NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding		729		chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76076547	GAAATATA others(11): Show GAAATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	356	0.0028	-18	c.-20 others(35): Show c.-20-2326_-20-2309delATATATATATATATATTT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	1/14			chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76076549	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01516.hp1 HG02145.hp1 others(25): Show HG01261.hp1 HG01516.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02922.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03654.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18949.hp1 NA18962.hp2 NA18969.hp2 NA18980.hp2 NA18999.hp1 NA19003.hp2 NA19006.hp2 NA19011.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0074 a0001c0001t0075 a0001c0002t0004 a0001c0002t0015 a0001c0002t0020 a0001c0002t0031 a0001c0002t0045 a0001c0002t0062 a0001c0002t0065 a0001c0002t0103	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 others(24): Show a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0118 a0001c0001t0012g0039 a0001c0001t0012g0056 a0001c0001t0074g0163 a0001c0001t0075g0200 a0001c0002t0004g0313 a0001c0002t0015g0018 a0001c0002t0015g0149 a0001c0002t0015g0150 a0001c0002t0020g0216 a0001c0002t0020g0217 a0001c0002t0031g0280 a0001c0002t0045g0215 a0001c0002t0062g0228 a0001c0002t0065g0291 a0001c0002t0103g0231	28	356	0.0787	-18	c.-20 others(35): Show c.-20-2328_-20-2311delATATATATATATATATAT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	1/14			chr12	TogoVar
NAP1L4_chr11_2939437_2997329	2963105	AAAAAAAA others(11): Show AAAAAAAAAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	335	0.0030	-18	c.606 others(35): Show c.606+1557_606+1574delCTTTTTTCTTTTTTTTTT	NAP1L4	ENSG00000205531.14	transcript	ENST00000380542.9	protein_coding	8/15			chr11	TogoVar
NAPA_chr19_47482637_47520063	47502237	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp2 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0226 a0001c0001t0004g0227	2	338	0.0059	-18	c.178 others(35): Show c.178+1168_178+1185delTTTTTTTTTTTTTTTTTT	NAPA	ENSG00000105402.8	transcript	ENST00000263354.8	protein_coding	2/10			chr19	TogoVar
NAPB_chr20_23369522_23426488	23385711	TGAAAGAA others(11): Show TGAAAGAAGAGAAAGAAGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp2 HG02451.hp1 others(8): Show HG01167.hp2 HG02055.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03540.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0251 a0001c0001t0007g0252 others(3): Show a0001c0001t0007g0007 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0007g0255	11	394	0.0279	-18	c.561 others(35): Show c.561+4217_561+4234delTCTTCTTTCTCTTCTTTC	NAPB	ENSG00000125814.17	transcript	ENST00000377026.4	protein_coding	7/10			chr20	TogoVar
NAPB_chr20_23369522_23426488	23392255	AAGAAATA others(11): Show AAGAAATATTTTCTTCCAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02083.hp2 HG02809.hp2 others(20): Show HG00673.hp1 HG02083.hp2 HG02809.hp2 HG02818.hp2 HG03471.hp1 HG03486.hp2 NA18939.hp2 NA18940.hp1 NA18947.hp1 NA18955.hp1 NA18969.hp2 NA18973.hp1 NA18992.hp1 NA18993.hp1 NA19005.hp1 NA19006.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0001t0013 a0001c0004t0006 a0001c0001t0006 a0001c0001t0013 a0001c0004t0006	a0001c0001t0006g0013 a0001c0001t0006g0019 a0001c0001t0006g0030 others(14): Show a0001c0001t0006g0013 a0001c0001t0006g0019 a0001c0001t0006g0030 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0013g0182 a0001c0001t0013g0183 a0001c0004t0006g0042 a0001c0004t0006g0043 a0001c0004t0006g0044	23	394	0.0584	-18	c.421 others(35): Show c.421-2009_421-1992delCTGGAAGAAAATATTTCT	NAPB	ENSG00000125814.17	transcript	ENST00000377026.4	protein_coding	5/10			chr20	TogoVar
NARS2_chr11_78430968_78579864	78434462	CAAATATT others(11): Show CAAATATTTTTAAAATGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02572.hp1 others(3): Show HG01884.hp1 HG02258.hp2 HG02572.hp1 HG03041.hp2 HG03516.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0007 a0002c0002t0003 a0001c0004t0007 a0002c0002t0003	a0001c0004t0007g0152 a0001c0004t0007g0154 a0002c0002t0003g0238 others(3): Show a0001c0004t0007g0152 a0001c0004t0007g0154 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0242	6	294	0.0204	-18	c.21 others(29): Show c.2190_*2207delAACATTTTAAAAATATTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding		1505		chr11	TogoVar
NARS2_chr11_78430968_78579864	78498948	GATGACAC others(11): Show GATGACACGATCTCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00597.hp2 others(172): Show HG00099.hp1 HG00408.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(14): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0015 a0001c0004t0004 a0001c0004t0007 a0001c0004t0013 a0001c0006t0003 a0001c0010t0001 a0002c0002t0003 a0002c0002t0008	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(172): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0009g0052 a0001c0001t0010g0116 a0001c0001t0011g0132 a0001c0001t0012g0151 a0001c0001t0014g0287 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0004g0274 a0001c0003t0004g0275 a0001c0003t0004g0276 a0001c0003t0006g0259 a0001c0003t0006g0260 a0001c0003t0006g0261 a0001c0003t0006g0262 a0001c0003t0006g0263 a0001c0003t0006g0264 a0001c0003t0006g0265 a0001c0003t0015g0266 a0001c0004t0004g0279 a0001c0004t0004g0280 a0001c0004t0004g0281 a0001c0004t0004g0282 a0001c0004t0004g0283 a0001c0004t0004g0284 a0001c0004t0007g0152 a0001c0004t0007g0154 a0001c0004t0007g0156 a0001c0004t0007g0157 a0001c0004t0007g0158 a0001c0004t0013g0153 a0001c0006t0003g0286 a0001c0010t0001g0017 a0002c0002t0003g0171 a0002c0002t0003g0173 a0002c0002t0003g0179 a0002c0002t0003g0205 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0242 a0002c0002t0003g0250 a0002c0002t0003g0288 a0002c0002t0003g0289 a0002c0002t0008g0290 a0002c0002t0008g0291 a0002c0002t0008g0292 a0002c0002t0008g0293	175	294	0.5952	-18	c.690 others(35): Show c.690-5771_690-5754delGAGCCGAGATCGTGTCAT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	6/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78505269	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp2 HG04199.hp1 others(3): Show HG03130.hp2 HG03209.hp2 HG04199.hp1 NA18967.hp1 NA18999.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0118 a0001c0001t0001g0125 others(3): Show a0001c0001t0001g0051 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0150	6	294	0.0204	-18	c.690 others(37): Show c.690-12092_690-12075delGTGTGTGTGTGTGTGTGT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	6/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45586239	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00733.hp2 others(10): Show HG00099.hp2 HG00280.hp1 HG00733.hp2 HG01099.hp1 HG01192.hp1 HG01361.hp1 HG02486.hp2 HG02818.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0002 a0001c0008t0002 a0001c0003t0002 a0001c0008t0002	a0001c0003t0002g0001 a0001c0003t0002g0145 a0001c0003t0002g0148 others(9): Show a0001c0003t0002g0001 a0001c0003t0002g0145 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0008t0002g0156 a0001c0008t0002g0157	13	300	0.0433	-18	c.59+ others(33): Show c.59+2062_59+2079delTGTGTGTGTGTGTGTGTG	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NASP_chr1_45579041_45623893	45586268	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp1 HG01943.hp2 others(2): Show HG00735.hp2 HG01257.hp1 HG01943.hp2 HG02647.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0158 others(2): Show a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0160	5	300	0.0167	-18	c.59+ others(33): Show c.59+2064_59+2081delTGTGTGTGTGTGTGTGGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NASP_chr1_45579041_45623893	45586274	GTGTGTGT others(11): Show GTGTGTGTGTGGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	300	0.0033	-18	c.59+ others(33): Show c.59+2070_59+2087delTGTGTGTGTGGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NASP_chr1_45579041_45623893	45586280	GTGTGGTG others(11): Show GTGTGGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG02683.hp1 others(5): Show HG01243.hp1 HG02647.hp1 HG02683.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(5): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032	8	300	0.0267	-18	c.59+ others(33): Show c.59+2076_59+2093delTGTGGTGTGTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NASP_chr1_45579041_45623893	45595127	TTTTGTGT others(11): Show TTTTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0283 a0003c0006t0001g0283	1	300	0.0033	-18	c.107 others(35): Show c.107+3859_107+3876delTTGTGTGTGTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NASP_chr1_45579041_45623893	45595129	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02735.hp1 NA18522.hp2 HG02258.hp2 HG02735.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0076 a0001c0001t0001g0174 a0001c0002t0001g0263 a0001c0001t0001g0076 a0001c0001t0001g0174 a0001c0002t0001g0263	3	300	0.0100	-18	c.107 others(35): Show c.107+3901_107+3918delGTGTGTGTGTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAT10_chr11_34100629_34151908	34103735	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 NA19043.hp1 HG02622.hp2 HG02630.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0047 a0001c0002t0001g0007 a0001c0002t0001g0047	3	262	0.0115	-18	c.-20 others(29): Show c.-2072_-2055delAAAAAAAAAAAAAAAAAA	NAT10	ENSG00000135372.10	transcript	ENST00000257829.8	protein_coding		1893		chr11	TogoVar
NAT8L_chr4_2054327_2074089	2059092	AGCCCCCG others(11): Show AGCCCCCGCCCGCGCCGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG02109.hp2 others(13): Show HG01243.hp2 HG01255.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0028 others(6): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0028 a0001c0001t0040 a0001c0001t0042 a0001c0006t0004 a0002c0003t0004 a0002c0003t0005 a0002c0003t0026	a0001c0001t0004g0004 a0001c0001t0005g0016 a0001c0001t0028g0004 others(6): Show a0001c0001t0004g0004 a0001c0001t0005g0016 a0001c0001t0028g0004 a0001c0001t0040g0004 a0001c0001t0042g0004 a0001c0006t0004g0004 a0002c0003t0004g0004 a0002c0003t0005g0016 a0002c0003t0026g0004	16	378	0.0423	-18	c.-41 others(27): Show c.-419_-402delGCCCCCGCCCGCGCCGCC	NAT8L	ENSG00000185818.8	transcript	ENST00000423729.3	protein_coding		234		chr4	TogoVar
NAT9_chr17_74765529_74781345	74770943	GAGGAACA others(11): Show GAGGAACAGACGTGGGAGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	386	0.0026	-18	c.76 others(27): Show c.763_*780delGCTCCCACGTCTGTTCCT	NAT9	ENSG00000109065.12	transcript	ENST00000357814.8	protein_coding	7/7	763		chr17	TogoVar
NAV1_chr1_201534127_201831969	201821505	GACACACA others(11): Show GACACACACACACACACAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp2 HG01123.hp2 HG01433.hp2 others(19): Show HG01071.hp2 HG01123.hp2 HG01433.hp2 HG02129.hp2 HG02257.hp1 HG02602.hp1 HG03041.hp1 HG03239.hp1 HG03491.hp1 HG03704.hp2 HG04184.hp2 NA18940.hp2 NA18947.hp2 NA18960.hp2 NA18994.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp2 NA19043.hp2 NA19062.hp1 NA19088.hp1 NA19090.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0001c0009 others(1): Show a0001c0001 a0001c0007 a0001c0009 a0006c0008	a0001c0001t0002 a0001c0001t0022 a0001c0001t0050 others(5): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0050 a0001c0001t0070 a0001c0001t0087 a0001c0007t0043 a0001c0009t0022 a0006c0008t0002	a0001c0001t0002g0005 a0001c0001t0002g0027 a0001c0001t0002g0029 others(19): Show a0001c0001t0002g0005 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0120 a0001c0001t0002g0138 a0001c0001t0022g0020 a0001c0001t0022g0048 a0001c0001t0050g0096 a0001c0001t0070g0163 a0001c0001t0087g0041 a0001c0007t0043g0031 a0001c0009t0022g0174 a0006c0008t0002g0117	22	210	0.1048	-18	c.16 others(29): Show c.1603_*1620delCACACACACACACACACA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	34/34	1603	INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19741685	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp1 HG01496.hp1 others(2): Show HG01109.hp2 HG01169.hp1 HG01496.hp1 HG02109.hp2 HG02922.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0001c0030 a0001c0052 others(2): Show a0001c0008 a0001c0030 a0001c0052 a0002c0116 a0003c0134	a0001c0008t0016 a0001c0030t0040 a0001c0052t0007 others(2): Show a0001c0008t0016 a0001c0030t0040 a0001c0052t0007 a0002c0116t0005 a0003c0134t0001	a0001c0008t0016g0087 a0001c0030t0040g0055 a0001c0052t0007g0134 others(2): Show a0001c0008t0016g0087 a0001c0030t0040g0055 a0001c0052t0007g0134 a0002c0116t0005g0136 a0003c0134t0001g0050	5	166	0.0301	-18	c.267 others(37): Show c.267+27725_267+27742delGTATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19741687	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG06807.hp2 NA20300.hp1 HG01261.hp2 HG06807.hp2 NA20300.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0103 a0004c0006 a0005c0051 a0003c0103 a0004c0006 a0005c0051	a0003c0103t0001 a0004c0006t0047 a0005c0051t0010 a0003c0103t0001 a0004c0006t0047 a0005c0051t0010	a0003c0103t0001g0007 a0004c0006t0047g0002 a0005c0051t0010g0066 a0003c0103t0001g0007 a0004c0006t0047g0002 a0005c0051t0010g0066	3	166	0.0181	-18	c.267 others(37): Show c.267+27749_267+27766delATATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106183	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0135 a0003c0135	a0003c0135t0039 a0003c0135t0039	a0003c0135t0039g0137 a0003c0135t0039g0137	1	166	0.0060	-18	c.684 others(35): Show c.6841+486_6841+503delATATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	78004181	TTTTTAAC others(11): Show TTTTTAACAAGAGAGATCA	T T	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0012 a0012	a0012c0036 a0012c0036	a0012c0036t0022 a0012c0036t0022	a0012c0036t0022g0127 a0012c0036t0022g0127	1	186	0.0054	-18	c.881 others(35): Show c.881-2236_881-2219delTTTAACAAGAGAGATCAT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	7/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78078375	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA21309.hp2 NA19074.hp1 NA21309.hp2	a0001 a0001	a0001c0010 a0001c0011 a0001c0010 a0001c0011	a0001c0010t0005 a0001c0011t0001 a0001c0010t0005 a0001c0011t0001	a0001c0010t0005g0060 a0001c0011t0001g0109 a0001c0010t0005g0060 a0001c0011t0001g0109	2	186	0.0108	-18	c.263 others(39): Show c.2636+19281_2636+19298delTTTTTTTTTTTTTTTTTT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78150490	TTTTTTGT others(11): Show TTTTTTGTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19079.hp1 NA18962.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0072 a0001c0001t0005g0040 a0001c0001t0005g0072	2	186	0.0108	-18	c.478 others(37): Show c.4785+1577_4785+1594delGTTTTTGTTTTTGTTTTT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	22/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78150654	CACACACA others(11): Show CACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02895.hp2 others(2): Show HG01884.hp1 HG02258.hp1 HG02895.hp2 HG03453.hp1 HG03516.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0049 a0004c0017 a0004c0043 others(1): Show a0001c0049 a0004c0017 a0004c0043 a0007c0030	a0001c0049t0054 a0004c0017t0015 a0004c0017t0021 others(2): Show a0001c0049t0054 a0004c0017t0015 a0004c0017t0021 a0004c0043t0061 a0007c0030t0030	a0001c0049t0054g0150 a0004c0017t0015g0155 a0004c0017t0021g0176 others(2): Show a0001c0049t0054g0150 a0004c0017t0015g0155 a0004c0017t0021g0176 a0004c0043t0061g0003 a0007c0030t0030g0005	5	186	0.0269	-18	c.478 others(37): Show c.4785+1745_4785+1762delCACACACATACACACACA	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	22/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NBAS_chr2_15161916_15566334	15164729	CATTCTCA others(11): Show CATTCTCAATACCAGCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	224	0.0045	-18	c.23 others(29): Show c.2301_*2318delTGTGCTGGTATTGAGAAT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding		2186		chr2	TogoVar
NBAS_chr2_15161916_15566334	15203852	GTGTGTGT others(11): Show GTGTGTGTGTGTCTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01169.hp2 others(3): Show HG01081.hp1 HG01123.hp2 HG01169.hp2 HG02602.hp2 NA18973.hp1 NA18974.hp2	a0003 a0020 a0034 a0003 a0020 a0034	a0003c0005 a0003c0010 a0020c0033 others(1): Show a0003c0005 a0003c0010 a0020c0033 a0034c0053	a0003c0005t0001 a0003c0010t0001 a0020c0033t0001 others(1): Show a0003c0005t0001 a0003c0010t0001 a0020c0033t0001 a0034c0053t0001	a0003c0005t0001g0052 a0003c0005t0001g0053 a0003c0010t0001g0048 others(3): Show a0003c0005t0001g0052 a0003c0005t0001g0053 a0003c0010t0001g0048 a0003c0010t0001g0114 a0020c0033t0001g0040 a0034c0053t0001g0224	6	224	0.0268	-18	c.643 others(39): Show c.6433-13467_6433-13450delGACACAGACACACACACA	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	48/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15220703	CCCACAAG others(11): Show CCCACAAGGGCCTGGAGAT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03834.hp2 HG02523.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0078 a0001c0001t0001g0081	2	224	0.0089	-18	c.623 others(37): Show c.6237-1753_6237-1736delATCTCCAGGCCCTTGTGG	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	47/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15533679	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp2 others(83): Show HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18960.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0006 others(13): Show a0002 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0015 a0016 a0017 a0022 a0023 a0033 a0035 a0036	a0002c0002 a0002c0009 a0005c0006 others(16): Show a0002c0002 a0002c0009 a0005c0006 a0005c0051 a0006c0008 a0007c0007 a0008c0014 a0010c0013 a0011c0016 a0013c0015 a0015c0045 a0015c0047 a0016c0052 a0017c0046 a0022c0042 a0023c0049 a0033c0044 a0035c0043 a0036c0048	a0002c0002t0001 a0002c0009t0001 a0005c0006t0001 others(16): Show a0002c0002t0001 a0002c0009t0001 a0005c0006t0001 a0005c0051t0001 a0006c0008t0001 a0007c0007t0001 a0008c0014t0001 a0010c0013t0001 a0011c0016t0001 a0013c0015t0001 a0015c0045t0001 a0015c0047t0001 a0016c0052t0001 a0017c0046t0001 a0022c0042t0001 a0023c0049t0001 a0033c0044t0001 a0035c0043t0001 a0036c0048t0001	a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0150 others(83): Show a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0009t0001g0160 a0002c0009t0001g0165 a0002c0009t0001g0191 a0002c0009t0001g0193 a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 a0005c0006t0001g0140 a0005c0006t0001g0141 a0005c0006t0001g0142 a0005c0051t0001g0137 a0006c0008t0001g0017 a0006c0008t0001g0144 a0006c0008t0001g0222 a0007c0007t0001g0156 a0007c0007t0001g0217 a0007c0007t0001g0218 a0007c0007t0001g0220 a0008c0014t0001g0133 a0008c0014t0001g0134 a0010c0013t0001g0131 a0010c0013t0001g0132 a0011c0016t0001g0177 a0011c0016t0001g0201 a0013c0015t0001g0002 a0013c0015t0001g0223 a0015c0045t0001g0183 a0015c0047t0001g0200 a0016c0052t0001g0135 a0017c0046t0001g0188 a0022c0042t0001g0176 a0023c0049t0001g0148 a0033c0044t0001g0159 a0035c0043t0001g0221 a0036c0048t0001g0194	86	224	0.3839	-18	c.746 others(33): Show c.746+846_746+863delACACACACACACACACAC	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	9/51			chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203190159	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG02056.hp2 others(8): Show HG00597.hp1 HG00673.hp1 HG02056.hp2 HG03195.hp2 HG04115.hp2 NA18965.hp1 NA18977.hp2 NA18998.hp1 NA19057.hp1 NA19064.hp1 NA19077.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0005 a0007c0011 a0001c0001 a0004c0005 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0004c0005t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0004c0005t0002 a0004c0005t0009 a0007c0011t0045	a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0002g0104 others(8): Show a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0002g0104 a0004c0005t0002g0171 a0004c0005t0002g0173 a0004c0005t0002g0174 a0004c0005t0002g0175 a0004c0005t0009g0170 a0004c0005t0009g0176 a0004c0005t0009g0181 a0007c0011t0045g0023	11	292	0.0377	-18	c.682 others(34): Show c.6824-100_6824-83delACACACACACACACACAC	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	45/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203194566	TAATAACT others(11): Show TAATAACTTATTTGAAAAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp2 HG03098.hp2 others(1): Show HG02572.hp1 HG02896.hp2 HG03098.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0026 a0003c0003t0004g0027 a0003c0003t0004g0028 others(1): Show a0003c0003t0004g0026 a0003c0003t0004g0027 a0003c0003t0004g0028 a0003c0003t0004g0029	4	292	0.0137	-18	c.703 others(35): Show c.7038+656_7038+673delAATAACTTATTTGAAAAG	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	47/55			chr2	TogoVar
NBEA_chr13_34937270_35677736	35006436	TTTTTGAT others(11): Show TTTTTGATATATTTTAATC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG02165.hp2 others(5): Show HG00408.hp1 HG00642.hp2 HG02165.hp2 HG04184.hp2 NA18960.hp2 NA18979.hp2 NA18990.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012	a0001c0001t0002g0046 a0001c0001t0004g0035 a0001c0001t0007g0025 others(5): Show a0001c0001t0002g0046 a0001c0001t0004g0035 a0001c0001t0007g0025 a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0007g0094 a0001c0001t0007g0117 a0001c0001t0012g0032	8	122	0.0656	-18	c.295 others(37): Show c.295-34492_295-34475delGATATATTTTAATCTTTT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35298207	GTGTGTAT others(11): Show GTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp2 HG02976.hp2 HG03195.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0121 a0004c0008t0001g0122 a0004c0008t0001g0121 a0004c0008t0001g0122	2	122	0.0164	-18	c.583 others(37): Show c.5838+7759_5838+7776delGTGTATATATATATATAT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	35/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35298209	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18906.hp1 HG02257.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0019 a0001c0006t0001 a0001c0006t0019	a0001c0006t0001g0081 a0001c0006t0019g0038 a0001c0006t0001g0081 a0001c0006t0019g0038	2	122	0.0164	-18	c.583 others(37): Show c.5838+7761_5838+7778delGTATATATATATATATAT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	35/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35445782	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp2 HG02818.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0087 a0001c0005t0004g0010 a0001c0001t0001g0087 a0001c0005t0004g0010	2	122	0.0164	-18	c.630 others(37): Show c.6305-6292_6305-6275delATATATATATATATATAT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	39/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35445800	ATATATAT others(11): Show ATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	122	0.0082	-18	c.630 others(37): Show c.6305-6278_6305-6261delATATGTATATATATATAT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	39/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35476296	CCTGCTGC others(11): Show CCTGCTGCTGCTGCTGCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG02976.hp1 others(4): Show HG00280.hp2 HG00673.hp1 HG02976.hp1 HG03098.hp2 HG06807.hp1 NA18964.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0003t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0005 a0001c0017t0002 a0002c0004t0001	a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0104 others(4): Show a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0104 a0001c0001t0003g0109 a0001c0003t0005g0009 a0001c0017t0002g0108 a0002c0004t0001g0023	7	122	0.0574	-18	c.658 others(37): Show c.6585+3802_6585+3819delGCTGCTGCTGCTGCTGCT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	41/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBL1_chr1_19639311_19663452	19640666	GGAGGGAG others(11): Show GGAGGGAGCTCACATTCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	412	0.0024	-18	c.-37 others(29): Show c.-3799_-3782delGAGGGAGCTCACATTCCC	NBL1	ENSG00000158747.15	transcript	ENST00000375136.8	protein_coding		3644		chr1	TogoVar
NBL1_chr1_19639311_19663452	19660068	AGTTTTTG others(11): Show AGTTTTTGTTTTTGTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG02976.hp1 others(2): Show HG02451.hp1 HG02965.hp2 HG02976.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0025 a0001c0001t0013 a0001c0001t0025	a0001c0001t0013g0035 a0001c0001t0013g0118 a0001c0001t0013g0121 others(1): Show a0001c0001t0013g0035 a0001c0001t0013g0118 a0001c0001t0013g0121 a0001c0001t0025g0211	5	412	0.0121	-18	c.29 others(29): Show c.2940_*2957delGTTTTTGTTTTTGTTTTT	NBL1	ENSG00000158747.15	transcript	ENST00000375136.8	protein_coding		1617		chr1	TogoVar
NBPF10_chr1_146059711_146149804	146076234	GATAGACA others(11): Show GATAGACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp1 HG02965.hp2 HG03130.hp1	a0126 a0132 a0126 a0132	a0126c0116 a0132c0136 a0126c0116 a0132c0136	a0126c0116t0010 a0132c0136t0002 a0126c0116t0010 a0132c0136t0002	a0126c0116t0010g0120 a0132c0136t0002g0113 a0126c0116t0010g0120 a0132c0136t0002g0113	2	283	0.0071	-18	c.962 others(35): Show c.9624-211_9624-194delGTGTGTGTGTGTGTCTAT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146076238	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02622.hp2 HG03579.hp1 others(2): Show HG00558.hp2 HG02622.hp2 HG03579.hp1 NA18953.hp2 NA19030.hp1	a0001 a0004 a0110 others(2): Show a0001 a0004 a0110 a0146 a0179	a0001c0170 a0004c0171 a0110c0043 others(2): Show a0001c0170 a0004c0171 a0110c0043 a0146c0040 a0179c0102	a0001c0170t0003 a0004c0171t0008 a0110c0043t0001 others(2): Show a0001c0170t0003 a0004c0171t0008 a0110c0043t0001 a0146c0040t0001 a0179c0102t0006	a0001c0170t0003g0215 a0004c0171t0008g0164 a0110c0043t0001g0027 others(2): Show a0001c0170t0003g0215 a0004c0171t0008g0164 a0110c0043t0001g0027 a0146c0040t0001g0078 a0179c0102t0006g0147	5	283	0.0177	-18	c.962 others(35): Show c.9624-215_9624-198delGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146076286	CACACACA others(11): Show CACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03098.hp2 others(3): Show HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03209.hp1 HG03516.hp1 NA19240.hp2	a0033 a0131 a0135 others(2): Show a0033 a0131 a0135 a0144 a0192	a0033c0020 a0131c0145 a0135c0147 others(2): Show a0033c0020 a0131c0145 a0135c0147 a0144c0146 a0192c0149	a0033c0020t0001 a0131c0145t0001 a0135c0147t0001 others(2): Show a0033c0020t0001 a0131c0145t0001 a0135c0147t0001 a0144c0146t0001 a0192c0149t0001	a0033c0020t0001g0005 a0131c0145t0001g0154 a0135c0147t0001g0150 others(2): Show a0033c0020t0001g0005 a0131c0145t0001g0154 a0135c0147t0001g0150 a0144c0146t0001g0153 a0192c0149t0001g0151	6	283	0.0212	-18	c.962 others(35): Show c.9624-263_9624-246delCTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146076288	CACACACA others(11): Show CACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0069 a0069	a0069c0119 a0069c0119	a0069c0119t0002 a0069c0119t0002	a0069c0119t0002g0104 a0069c0119t0002g0104	1	283	0.0035	-18	c.962 others(35): Show c.9624-265_9624-248delCTCTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146080974	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp1 HG01981.hp1 others(16): Show HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02273.hp2 HG02300.hp1 HG02615.hp2 HG02886.hp1 HG02896.hp1 HG03834.hp2 HG04199.hp1 NA18953.hp2 NA18983.hp1 NA19003.hp2 NA19056.hp2 NA19079.hp2 NA19090.hp1 NA20752.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0006 a0030 a0032 a0092 a0153 a0182	a0001c0022 a0001c0151 a0001c0169 others(10): Show a0001c0022 a0001c0151 a0001c0169 a0001c0170 a0003c0004 a0003c0162 a0004c0177 a0006c0003 a0030c0028 a0032c0174 a0092c0229 a0153c0187 a0182c0163	a0001c0022t0003 a0001c0151t0003 a0001c0169t0003 others(10): Show a0001c0022t0003 a0001c0151t0003 a0001c0169t0003 a0001c0170t0003 a0003c0004t0003 a0003c0162t0003 a0004c0177t0003 a0006c0003t0001 a0030c0028t0004 a0032c0174t0003 a0092c0229t0003 a0153c0187t0003 a0182c0163t0003	a0001c0022t0003g0191 a0001c0022t0003g0197 a0001c0151t0003g0166 others(16): Show a0001c0022t0003g0191 a0001c0022t0003g0197 a0001c0151t0003g0166 a0001c0169t0003g0187 a0001c0170t0003g0215 a0003c0004t0003g0168 a0003c0004t0003g0175 a0003c0004t0003g0195 a0003c0004t0003g0199 a0003c0004t0003g0200 a0003c0162t0003g0163 a0004c0177t0003g0189 a0006c0003t0001g0059 a0030c0028t0004g0270 a0030c0028t0004g0271 a0032c0174t0003g0169 a0092c0229t0003g0275 a0153c0187t0003g0172 a0182c0163t0003g0173	19	283	0.0671	-18	c.889 others(35): Show c.8892-215_8892-198delGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	71/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146081014	CACACACA others(11): Show CACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0161 a0001c0161	a0001c0161t0003 a0001c0161t0003	a0001c0161t0003g0213 a0001c0161t0003g0213	1	283	0.0035	-18	c.889 others(35): Show c.8892-255_8892-238delCTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	71/89			chr1	TogoVar

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