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
MYT1_chr20_64159452_64247253	64201900	T T	TGTGTCGG others(10): Show TGTGTCGGGAACCCCCGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01257.hp1 HG01978.hp1 others(1): Show HG01175.hp1 HG01257.hp1 HG01978.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0007t0001g0086	4	223	0.0179	17	c.86+ others(32): Show c.86+2008_86+2024dupCCCGCGTGTCGGGAACC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64201915	C C	CGCGTGTC others(10): Show CGCGTGTCGGGAACCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0092 a0001c0001t0014g0092	1	223	0.0045	17	c.86+ others(32): Show c.86+2007_86+2008insTCTGCGTGTCGGGAACC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64201949	T T	TGCGTGTC others(10): Show TGCGTGTCGGGAACCCCC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04228.hp1 HG02004.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0168 a0001c0001t0001g0123 a0001c0001t0001g0168	2	223	0.0090	17	c.86+ others(32): Show c.86+2078_86+2094dupCGCGTGTCGGGAACCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64201951	C C	CGTGTCGG others(10): Show CGTGTCGGGAACCCCCGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp2 others(77): Show HG00099.hp2 HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01978.hp2 HG02004.hp1 HG02074.hp1 HG02129.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02602.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03669.hp1 HG03834.hp1 HG04184.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp1 NA18959.hp2 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19058.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0014 a0001c0023 a0003c0009 a0004c0010 a0005c0018 a0007c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0026 a0001c0002t0002 a0001c0002t0005 a0001c0003t0007 a0001c0006t0002 a0001c0006t0009 a0001c0007t0001 a0001c0007t0015 a0001c0014t0003 a0001c0023t0001 a0003c0009t0001 a0004c0010t0001 a0004c0010t0003 a0005c0018t0001 a0007c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0038 others(77): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0003g0021 a0001c0001t0003g0072 a0001c0001t0003g0090 a0001c0001t0003g0112 a0001c0001t0003g0116 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0188 a0001c0001t0009g0065 a0001c0001t0009g0076 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0011g0094 a0001c0001t0011g0121 a0001c0001t0011g0130 a0001c0001t0013g0157 a0001c0001t0014g0017 a0001c0001t0026g0055 a0001c0002t0002g0010 a0001c0002t0002g0146 a0001c0002t0005g0099 a0001c0002t0005g0108 a0001c0002t0005g0109 a0001c0002t0005g0143 a0001c0002t0005g0145 a0001c0003t0007g0151 a0001c0006t0002g0083 a0001c0006t0002g0128 a0001c0006t0009g0169 a0001c0007t0001g0036 a0001c0007t0015g0024 a0001c0014t0003g0045 a0001c0023t0001g0063 a0003c0009t0001g0041 a0003c0009t0001g0042 a0004c0010t0001g0029 a0004c0010t0003g0098 a0005c0018t0001g0004 a0007c0020t0001g0186	80	223	0.3587	17	c.86+ others(32): Show c.86+2045_86+2046insTGTGTCGGGAACCCCCG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57616822	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02258.hp2 others(12): Show HG01167.hp1 HG02109.hp1 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02896.hp1 HG03098.hp2 HG03471.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA18946.hp1 NA18951.hp1 NA19079.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0014 a0001c0001t0001g0169 a0001c0001t0001g0188 others(12): Show a0001c0001t0001g0014 a0001c0001t0001g0169 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0273 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0002g0154 a0001c0001t0007g0333 a0001c0001t0009g0202	15	352	0.0426	17	c.163 others(34): Show c.163-1202_163-1186dupTTTTTTTTTTTTTTTTT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MZF1_chr19_58556932_58578335	58564898	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0163 a0003c0005t0001g0163	1	414	0.0024	17	c.773 others(34): Show c.773-1395_773-1394insAAAAAAAAAAAAAAAAA	MZF1	ENSG00000099326.9	transcript	ENST00000215057.7	protein_coding	5/5			chr19	TogoVar
N4BP1_chr16_48533726_48615180	48552699	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	324	0.0031	17	c.202 others(34): Show c.2020+823_2020+839dupTTTTTTTTTTTTTTTTT	N4BP1	ENSG00000102921.8	transcript	ENST00000262384.4	protein_coding	3/6			chr16	TogoVar
N4BP2L1_chr13_32395723_32433130	32412384	T T	TGGGAGGC others(10): Show TGGGAGGCCAAGACGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00558.hp2 others(62): Show HG00099.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02132.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02976.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 NA18522.hp2 NA18975.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19067.hp2 NA19068.hp2 NA19080.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0029	a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0095 others(51): Show a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0002g0157 a0001c0001t0002g0231 a0001c0001t0002g0276 a0001c0001t0003g0003 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0034 a0001c0001t0003g0047 a0001c0001t0003g0070 a0001c0001t0003g0078 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0099 a0001c0001t0003g0104 a0001c0001t0003g0145 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0256 a0001c0001t0003g0265 a0001c0001t0003g0271 a0001c0001t0003g0282 a0001c0001t0003g0285 a0001c0001t0003g0339 a0001c0001t0003g0347 a0001c0001t0007g0005 a0001c0001t0007g0069 a0001c0001t0007g0080 a0001c0001t0007g0098 a0001c0001t0007g0247 a0001c0001t0009g0006 a0001c0001t0009g0028 a0001c0001t0009g0109 a0001c0001t0009g0304 a0001c0001t0010g0090 a0001c0001t0017g0133 a0001c0001t0018g0258 a0001c0001t0029g0332	65	430	0.1512	17	c.180 others(34): Show c.180-4629_180-4613dupGCCCGTCTTGGCCTCCC	N4BP2L1	ENSG00000139597.18	transcript	ENST00000380130.7	protein_coding	1/4			chr13	TogoVar
N4BP2L2_chr13_32505292_32543795	32526818	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0277 a0003c0004t0013g0277	1	394	0.0025	17	c.138 others(34): Show c.1384+573_1384+589dupAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding	3/5			chr13	TogoVar
N4BP2L2_chr13_32505292_32543795	32540970	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0156 a0001c0001t0054g0156	1	394	0.0025	17	c.-23 others(28): Show c.-2354_-2353insAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding		2176		chr13	TogoVar
NAA11_chr4_79311647_79331061	79314641	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 NA19078.hp1 NA19078.hp2 HG03688.hp2 NA19078.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0004g0020 a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0004g0020	3	398	0.0075	17	c.31 others(28): Show c.3146_*3162dupTTTTTTTTTTTTTTTTT	NAA11	ENSG00000156269.5	transcript	ENST00000286794.5	protein_coding		2005		chr4	TogoVar
NAA16_chr13_41306267_41382030	41309383	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	354	0.0028	17	c.-21 others(28): Show c.-2146_-2145insGTGTGTGTGTGTGTGTG	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding		1883		chr13	TogoVar
NAA25_chr12_112021689_112113783	112086051	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0125 a0001c0001t0008g0125	1	342	0.0029	17	c.402 others(34): Show c.402+1631_402+1632insATATATATATATATTTT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	4/23			chr12	TogoVar
NAA35_chr9_85936146_86030462	86010002	T T	TCATGCCT others(10): Show TCATGCCTGTAATCCCAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03017.hp1 HG00673.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0010 a0001c0003t0009 a0001c0003t0010	a0001c0003t0009g0015 a0001c0003t0010g0014 a0001c0003t0009g0015 a0001c0003t0010g0014	2	288	0.0069	17	c.129 others(32): Show c.1290+73_1290+74insTGCCTGTAATCCCAGCA	NAA35	ENSG00000135040.16	transcript	ENST00000361671.10	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
NAA80_chr3_50291402_50304405	50304296	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	17	c.-52 others(28): Show c.-5294_-5293insATATATATTTTTTTTTT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4892		chr3	TogoVar
NAA80_chr3_50291402_50304405	50304296	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	17	c.-52 others(28): Show c.-5294_-5293insATATATATATTTTTTTT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4892		chr3	TogoVar
NAA80_chr3_50291402_50304405	50304296	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA19078.hp2 NA18995.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	378	0.0053	17	c.-52 others(28): Show c.-5294_-5293insATATATATATATTTTTT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4892		chr3	TogoVar
NAA80_chr3_50291402_50304405	50304296	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	17	c.-52 others(28): Show c.-5294_-5293insATATATATATATATATA	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4892		chr3	TogoVar
NAALAD2_chr11_90129663_90197894	90138725	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp2 HG00642.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0016 a0001c0002t0005 a0001c0002t0016	a0001c0002t0005g0344 a0001c0002t0016g0345 a0001c0002t0005g0344 a0001c0002t0016g0345	2	364	0.0055	17	c.194 others(34): Show c.194+3073_194+3089dupTTTTTTTTTTTTTTTTT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	175008721	C C	CGTTACAG others(10): Show CGTTACAGGGTAAGGCAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01109.hp1 others(24): Show HG00639.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02300.hp1 HG02451.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011	a0001c0001 a0001c0013 a0002c0003 others(11): Show a0001c0001 a0001c0013 a0002c0003 a0002c0007 a0003c0004 a0004c0002 a0004c0008 a0005c0006 a0005c0011 a0006c0010 a0007c0012 a0007c0014 a0010c0015 a0011c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0022 a0001c0001t0030 a0001c0001t0037 a0001c0013t0007 a0002c0003t0001 a0002c0003t0004 a0002c0003t0005 a0002c0007t0006 a0002c0007t0024 a0003c0004t0033 a0004c0002t0002 a0004c0002t0008 a0004c0002t0021 a0004c0008t0002 a0005c0006t0001 a0005c0006t0018 a0005c0011t0001 a0006c0010t0009 a0006c0010t0019 a0007c0012t0029 a0007c0014t0004 a0010c0015t0002 a0011c0020t0028	a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0003g0015 others(24): Show a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0003g0015 a0001c0001t0012g0031 a0001c0001t0022g0002 a0001c0001t0030g0030 a0001c0001t0037g0038 a0001c0013t0007g0021 a0002c0003t0001g0056 a0002c0003t0004g0046 a0002c0003t0005g0014 a0002c0007t0006g0041 a0002c0007t0024g0049 a0003c0004t0033g0022 a0004c0002t0002g0048 a0004c0002t0008g0006 a0004c0002t0021g0003 a0004c0008t0002g0062 a0005c0006t0001g0057 a0005c0006t0018g0013 a0005c0011t0001g0053 a0006c0010t0009g0054 a0006c0010t0019g0016 a0007c0012t0029g0024 a0007c0014t0004g0040 a0010c0015t0002g0005 a0011c0020t0028g0001	27	64	0.4219	17	c.44- others(34): Show c.44-88065_44-88064insCAGGGTAAGGCAGGTTA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175008721	C C	CGTTATAG others(10): Show CGTTATAGGGTAAGGCAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02809.hp2 HG03453.hp2 others(1): Show HG01261.hp1 HG02809.hp2 HG03453.hp2 HG03579.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0007	a0002c0003 a0003c0004 a0004c0008 others(1): Show a0002c0003 a0003c0004 a0004c0008 a0007c0012	a0002c0003t0004 a0003c0004t0003 a0004c0008t0027 others(1): Show a0002c0003t0004 a0003c0004t0003 a0004c0008t0027 a0007c0012t0003	a0002c0003t0004g0020 a0003c0004t0003g0028 a0004c0008t0027g0051 others(1): Show a0002c0003t0004g0020 a0003c0004t0003g0028 a0004c0008t0027g0051 a0007c0012t0003g0033	4	64	0.0625	17	c.44- others(34): Show c.44-88057_44-88041dupAGGCAGGTTATAGGGTA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175160424	T T	TGCAATGA others(10): Show TGCAATGACGCGATCTCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01261.hp1 others(13): Show HG00639.hp1 HG01109.hp2 HG01261.hp1 HG02300.hp1 HG02615.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 NA18906.hp2 NA19043.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0003 a0002c0007 others(7): Show a0001c0001 a0002c0003 a0002c0007 a0003c0004 a0003c0005 a0004c0008 a0005c0006 a0006c0009 a0007c0012 a0008c0019	a0001c0001t0022 a0001c0001t0031 a0002c0003t0004 others(13): Show a0001c0001t0022 a0001c0001t0031 a0002c0003t0004 a0002c0003t0016 a0002c0007t0001 a0003c0004t0001 a0003c0005t0008 a0003c0005t0011 a0003c0005t0023 a0004c0008t0002 a0004c0008t0010 a0005c0006t0001 a0005c0006t0020 a0006c0009t0025 a0007c0012t0003 a0008c0019t0017	a0001c0001t0022g0002 a0001c0001t0031g0026 a0002c0003t0004g0020 others(13): Show a0001c0001t0022g0002 a0001c0001t0031g0026 a0002c0003t0004g0020 a0002c0003t0016g0060 a0002c0007t0001g0064 a0003c0004t0001g0044 a0003c0005t0008g0007 a0003c0005t0011g0019 a0003c0005t0023g0045 a0004c0008t0002g0062 a0004c0008t0010g0036 a0005c0006t0001g0057 a0005c0006t0020g0052 a0006c0009t0025g0035 a0007c0012t0003g0033 a0008c0019t0017g0004	16	64	0.2500	17	c.545 others(36): Show c.545+63135_545+63136insAATGACGCGATCTCGGC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175199864	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	64	0.0156	17	c.546 others(36): Show c.546-34066_546-34065insATATATATATTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175343655	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01978.hp2 HG02300.hp2 others(1): Show HG01109.hp1 HG01978.hp2 HG02300.hp2 HG03486.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0003 a0003c0004 a0005c0011 a0002c0003 a0003c0004 a0005c0011	a0002c0003t0005 a0003c0004t0033 a0003c0004t0036 others(1): Show a0002c0003t0005 a0003c0004t0033 a0003c0004t0036 a0005c0011t0001	a0002c0003t0005g0014 a0003c0004t0033g0022 a0003c0004t0036g0047 others(1): Show a0002c0003t0005g0014 a0003c0004t0033g0022 a0003c0004t0036g0047 a0005c0011t0001g0053	4	64	0.0625	17	c.109 others(38): Show c.1090+19335_1090+19351dupTTTTTTTTTTTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175465473	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0019 a0006c0010t0019	a0006c0010t0019g0016 a0006c0010t0019g0016	1	64	0.0156	17	c.132 others(36): Show c.1328-1503_1328-1487dupTTTTTTTTTTTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190690012	C C	CTATACAT others(10): Show CTATACATATATGTATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00735.hp1 others(105): Show HG00438.hp2 HG00544.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03654.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18966.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp2 NA18993.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0033 a0001c0003t0002 a0001c0007t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 others(61): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0154 a0001c0001t0002g0245 a0001c0001t0007g0001 a0001c0001t0007g0004 a0001c0001t0007g0017 a0001c0001t0007g0021 a0001c0001t0007g0045 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0011g0112 a0001c0001t0011g0115 a0001c0001t0011g0116 a0001c0001t0021g0094 a0001c0001t0022g0006 a0001c0001t0027g0052 a0001c0001t0033g0001 a0001c0003t0002g0001 a0001c0003t0002g0085 a0001c0007t0002g0067	108	374	0.2888	17	c.137 others(34): Show c.1376-217_1376-216insGTATACATATATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NAB2_chr12_57084114_57100476	57089741	C C	CCGGGGTC others(10): Show CCGGGGTCCTGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(270): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA19003.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0007 a0005c0004 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0005t0001 a0002c0003t0001 a0003c0007t0001 a0005c0004t0001 a0006c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0003g0002 a0001c0001t0005g0016 a0001c0001t0006g0004 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0005t0001g0003 a0002c0003t0001g0002 a0003c0007t0001g0003 a0005c0004t0001g0021 a0006c0008t0001g0004	273	396	0.6894	17	c.83+ others(30): Show c.83+390_83+391insGGTCCTGGAGAAGGCGG	NAB2	ENSG00000166886.13	transcript	ENST00000300131.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0002 a0001c0001t0016g0002	1	394	0.0025	17	c.46 others(28): Show c.4671_*4672insTATATATATTTTTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NACAD_chr7_45075437_45093969	45079185	A A	AGGGGACA others(10): Show AGGGGACATCAGAAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG03471.hp1 others(1): Show HG02922.hp2 HG02976.hp2 HG03471.hp1 NA18906.hp2	a0007 a0048 a0054 a0007 a0048 a0054	a0007c0007 a0048c0078 a0054c0081 a0007c0007 a0048c0078 a0054c0081	a0007c0007t0001 a0048c0078t0001 a0054c0081t0001 a0007c0007t0001 a0048c0078t0001 a0054c0081t0001	a0007c0007t0001g0025 a0048c0078t0001g0091 a0054c0081t0001g0081 a0007c0007t0001g0025 a0048c0078t0001g0091 a0054c0081t0001g0081	4	410	0.0098	17	c.13 others(28): Show c.1323_*1324insCGCCTTCTGATGTCCCC	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding		1251		chr7	TogoVar
NACC1_chr19_13113264_13146147	13127371	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	326	0.0031	17	c.-8- others(32): Show c.-8-7816_-8-7800dupTTTTTTTTTTTTTTTTT	NACC1	ENSG00000160877.7	transcript	ENST00000292431.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NAGPA_chr16_5019844_5038935	5035034	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	442	0.0023	17	c.-11 others(28): Show c.-1137_-1121dupAAAAAAAAAAAAAAAAA	NAGPA	ENSG00000103174.13	transcript	ENST00000312251.8	protein_coding		1100		chr16	TogoVar
NALF1_chr13_107158510_107872496	107340466	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19240.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0066 a0001c0001t0065 a0001c0001t0066	a0001c0001t0065g0025 a0001c0001t0066g0028 a0001c0001t0065g0025 a0001c0001t0066g0028	2	128	0.0156	17	c.916 others(38): Show c.916-129712_916-129711insAGAAAGAAAGAAAGAAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG03225.hp1 others(2): Show HG00741.hp1 HG01109.hp2 HG03225.hp1 HG03491.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0020 a0001c0001t0057 a0001c0001t0065 others(2): Show a0001c0001t0020 a0001c0001t0057 a0001c0001t0065 a0001c0001t0091 a0002c0003t0007	a0001c0001t0020g0015 a0001c0001t0057g0042 a0001c0001t0065g0025 others(2): Show a0001c0001t0020g0015 a0001c0001t0057g0042 a0001c0001t0065g0025 a0001c0001t0091g0115 a0002c0003t0007g0126	5	128	0.0391	17	c.916 others(38): Show c.916-228089_916-228073dupTTTTTTTTTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107586635	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 NA20300.hp1 HG02559.hp2 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0058 a0001c0002t0018 a0001c0002t0035 a0001c0001t0058 a0001c0002t0018 a0001c0002t0035	a0001c0001t0058g0024 a0001c0002t0018g0001 a0001c0002t0035g0020 a0001c0001t0058g0024 a0001c0002t0018g0001 a0001c0002t0035g0020	3	128	0.0234	17	c.915 others(38): Show c.915+279046_915+279047insAAAAAAAAAAAAAAAAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107635441	C C	CACCTCCA others(10): Show CACCTCCATCATTCAACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(67): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02486.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03491.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19066.hp1 NA19066.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0054 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0068 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0079 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0091 a0001c0001t0092 a0001c0002t0002 a0001c0002t0012 a0001c0002t0013 a0001c0002t0034 a0001c0002t0036 a0001c0002t0049 a0001c0006t0021 a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0077 a0002c0003t0082 a0002c0003t0089 a0003c0004t0016	a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0063 others(67): Show a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0004g0029 a0001c0001t0004g0033 a0001c0001t0004g0055 a0001c0001t0005g0046 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0006g0112 a0001c0001t0007g0103 a0001c0001t0008g0109 a0001c0001t0011g0043 a0001c0001t0011g0057 a0001c0001t0012g0023 a0001c0001t0015g0095 a0001c0001t0015g0099 a0001c0001t0019g0003 a0001c0001t0022g0011 a0001c0001t0023g0008 a0001c0001t0024g0013 a0001c0001t0025g0005 a0001c0001t0026g0014 a0001c0001t0027g0004 a0001c0001t0028g0010 a0001c0001t0032g0016 a0001c0001t0039g0052 a0001c0001t0042g0044 a0001c0001t0043g0054 a0001c0001t0045g0039 a0001c0001t0048g0056 a0001c0001t0054g0045 a0001c0001t0056g0062 a0001c0001t0060g0064 a0001c0001t0061g0040 a0001c0001t0068g0030 a0001c0001t0071g0051 a0001c0001t0073g0026 a0001c0001t0074g0088 a0001c0001t0079g0114 a0001c0001t0081g0098 a0001c0001t0083g0116 a0001c0001t0085g0101 a0001c0001t0086g0117 a0001c0001t0091g0115 a0001c0001t0092g0107 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0012g0085 a0001c0002t0013g0082 a0001c0002t0034g0022 a0001c0002t0036g0021 a0001c0002t0049g0074 a0001c0006t0021g0009 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0006g0118 a0002c0003t0006g0121 a0002c0003t0007g0126 a0002c0003t0008g0122 a0002c0003t0077g0125 a0002c0003t0082g0119 a0002c0003t0089g0120 a0003c0004t0016g0111 a0003c0004t0016g0113	70	128	0.5469	17	c.915 others(38): Show c.915+230240_915+230241insAGTTGAATGATGGAGGT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107851805	C C	CATTTTTT others(10): Show CATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19005.hp2 HG02056.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0056 a0001c0001t0005 a0001c0001t0056	a0001c0001t0005g0059 a0001c0001t0056g0062 a0001c0001t0005g0059 a0001c0001t0056g0062	2	128	0.0156	17	c.915 others(36): Show c.915+13876_915+13877insAAAAAAAAAAAAAAAAT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02132.hp2 HG02135.hp2 others(5): Show HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02572.hp2 NA18949.hp1 NA18950.hp2 NA18985.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0047 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0047 a0001c0001t0001g0080 a0001c0001t0001g0145	8	336	0.0238	17	c.743 others(32): Show c.743+607_743+623dupTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NAPA_chr19_47482637_47520063	47515259	G G	GTACCTCA others(10): Show GTACCTCACCTCCCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	338	0.0030	17	c.-32 others(26): Show c.-320_-319insACGTGGGAGGTGAGGTA	NAPA	ENSG00000105402.8	transcript	ENST00000263354.8	protein_coding		197		chr19	TogoVar
NAPSA_chr19_50353477_50370639	50369558	G G	GTTTTGTT others(10): Show GTTTTGTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	350	0.0029	17	c.-39 others(28): Show c.-3938_-3937insAAAAAAAAAAAACAAAA	NAPSA	ENSG00000131400.9	transcript	ENST00000253719.7	protein_coding		3920		chr19	TogoVar
NAPSA_chr19_50353477_50370639	50369558	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01361.hp1 HG01361.hp2 others(16): Show HG00423.hp2 HG01361.hp1 HG01361.hp2 HG01943.hp2 HG01978.hp1 HG02015.hp1 HG02135.hp2 HG02155.hp2 NA18612.hp2 NA18947.hp1 NA18979.hp2 NA18985.hp1 NA18985.hp2 NA19003.hp2 NA19005.hp2 NA19077.hp1 NA19083.hp2 NA19088.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0027 a0003c0003t0001g0061	19	350	0.0543	17	c.-39 others(28): Show c.-3954_-3938dupAAAAAAAAAAAAAAAAA	NAPSA	ENSG00000131400.9	transcript	ENST00000253719.7	protein_coding		3920		chr19	TogoVar
NARF_chr17_82453741_82495537	82494093	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02132.hp1 HG02132.hp2 others(2): Show HG00597.hp2 HG02132.hp1 HG02132.hp2 HG02647.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0168	5	356	0.0140	17	c.59 others(28): Show c.5936_*5937insGAGAGAGAGAGAGAGAG	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding		3557		chr17	TogoVar
NARS2_chr11_78430968_78579864	78431701	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	294	0.0034	17	c.49 others(28): Show c.4968_*4969insAAAAAAAAAAAAAAAAA	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding		4266		chr11	TogoVar
NARS2_chr11_78430968_78579864	78468310	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG02976.hp2 others(1): Show HG02630.hp2 HG02886.hp2 HG02976.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0013 a0001c0004t0004 a0001c0004t0013	a0001c0004t0004g0279 a0001c0004t0004g0280 a0001c0004t0004g0283 others(1): Show a0001c0004t0004g0279 a0001c0004t0004g0280 a0001c0004t0004g0283 a0001c0004t0013g0153	4	294	0.0136	17	c.102 others(34): Show c.1026+920_1026+936dupTTTTTTTTTTTTTTTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	10/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78538994	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0205 a0002c0002t0003g0205	1	294	0.0034	17	c.595 others(36): Show c.595-10075_595-10059dupTTTTTTTTTTTTTTTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	5/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45586284	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0139 a0001c0010t0001g0139	1	300	0.0033	17	c.59+ others(32): Show c.59+2079_59+2080insTGTGTGTGTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NAV1_chr1_201534127_201831969	201779598	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02559.hp2 HG02615.hp2 others(3): Show HG01071.hp2 HG02559.hp2 HG02615.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0015 others(1): Show a0001c0001 a0001c0006 a0001c0015 a0003c0031	a0001c0001t0002 a0001c0001t0028 a0001c0006t0021 others(2): Show a0001c0001t0002 a0001c0001t0028 a0001c0006t0021 a0001c0015t0023 a0003c0031t0006	a0001c0001t0002g0005 a0001c0001t0028g0177 a0001c0006t0021g0130 others(3): Show a0001c0001t0002g0005 a0001c0001t0028g0177 a0001c0006t0021g0130 a0001c0015t0023g0192 a0001c0015t0023g0193 a0003c0031t0006g0116	6	210	0.0286	17	c.208 others(34): Show c.2088-816_2088-800dupAAAAAAAAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19776577	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0029 a0002c0002t0004g0029	1	166	0.0060	17	c.268 others(36): Show c.268-55907_268-55906insTGTGTGTGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37			chr11	TogoVar
NAV2_chr11_19707837_20126601	19859137	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02055.hp2 HG02071.hp2 others(6): Show HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02602.hp2 NA18947.hp1 NA18964.hp2 NA19066.hp2 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0021	a0001c0052 a0001c0068 a0002c0002 others(6): Show a0001c0052 a0001c0068 a0002c0002 a0002c0014 a0003c0132 a0004c0063 a0007c0109 a0007c0113 a0021c0088	a0001c0052t0007 a0001c0068t0004 a0002c0002t0004 others(6): Show a0001c0052t0007 a0001c0068t0004 a0002c0002t0004 a0002c0014t0001 a0003c0132t0006 a0004c0063t0004 a0007c0109t0003 a0007c0113t0002 a0021c0088t0043	a0001c0052t0007g0134 a0001c0068t0004g0019 a0002c0002t0004g0029 others(6): Show a0001c0052t0007g0134 a0001c0068t0004g0019 a0002c0002t0004g0029 a0002c0014t0001g0033 a0003c0132t0006g0024 a0004c0063t0004g0016 a0007c0109t0003g0045 a0007c0113t0002g0105 a0021c0088t0043g0020	9	166	0.0542	17	c.439 others(34): Show c.439-9782_439-9766dupTTTTTTTTTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19935864	T T	TGTTTTTT others(10): Show TGTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0090 a0002c0090	a0002c0090t0004 a0002c0090t0004	a0002c0090t0004g0028 a0002c0090t0004g0028	1	166	0.0060	17	c.203 others(36): Show c.2033+1587_2033+1588insGTTTTTTTTTTTTTTTG	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	7/37			chr11	TogoVar
NAV2_chr11_19707837_20126601	20074760	C C	CCTTTTTT others(10): Show CCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0001 a0001c0058t0001	a0001c0058t0001g0135 a0001c0058t0001g0135	1	166	0.0060	17	c.498 others(36): Show c.4984-2792_4984-2791insCTTTTTTTTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	22/37			chr11	TogoVar

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