Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
NELL2_chr12_44503278_44881315	44797946	TGATGGAA others(18): Show TGATGGAATAAAATCATTCCATCCTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01175.hp1 others(31): Show HG00140.hp1 HG00323.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02896.hp2 HG02965.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18952.hp2 NA18982.hp2 NA19004.hp2 NA19030.hp1 NA19063.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0003c0003t0004	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 others(31): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0158 a0001c0001t0003g0052 a0001c0001t0003g0131 a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0004g0017 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0007g0023 a0001c0001t0008g0010 a0001c0001t0008g0014 a0001c0001t0011g0151 a0001c0001t0011g0152 a0003c0003t0004g0006	34	130	0.2615	-25	c.336 others(44): Show c.336-17949_336-17925delTAGGATGGAATGATTTTATTCCATC	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19			chr12	TogoVar
NEMP1_chr12_57050643_57083791	57052796	TTGAACCC others(18): Show TTGAACCCAAGAGTTCCAGGCTGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	396	0.0025	-25	c.70 others(36): Show c.7058_*7082delGTGCAGCCTGGAACTCTTGGGTTCA	NEMP1	ENSG00000166881.10	transcript	ENST00000300128.9	protein_coding		2846		chr12	TogoVar
NEMP1_chr12_57050643_57083791	57062273	AGTTTGAG others(18): Show AGTTTGAGACCACCCTGGCCAACATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01256.hp2 HG01891.hp2 others(8): Show HG01243.hp2 HG01256.hp2 HG01891.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02647.hp2 HG02723.hp2 HG03195.hp2 HG03209.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0005 a0001c0001t0017 a0004c0005t0011 a0001c0001t0005 a0001c0001t0017 a0004c0005t0011	a0001c0001t0005g0055 a0001c0001t0005g0190 a0001c0001t0005g0191 others(7): Show a0001c0001t0005g0055 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0194 a0001c0001t0005g0196 a0001c0001t0005g0198 a0001c0001t0017g0193 a0004c0005t0011g0195 a0004c0005t0011g0197	11	396	0.0278	-25	c.980 others(40): Show c.980+821_980+845delCATGTTGGCCAGGGTGGTCTCAAAC	NEMP1	ENSG00000166881.10	transcript	ENST00000300128.9	protein_coding	7/8			chr12	TogoVar
NET1_chr10_5407557_5464056	5435540	GACAGATA others(18): Show GACAGATAGATAGATAGATAGATAAA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp2 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0271 a0001c0001t0002g0273	2	378	0.0053	-25	c.255 others(42): Show c.255+6313_255+6337delCAGATAGATAGATAGATAGATAAAA	NET1	ENSG00000173848.19	transcript	ENST00000355029.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
NETO2_chr16_47072703_47148945	47133604	CATAAAAT others(18): Show CATAAAATAAAATAAAATAAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp2 NA19043.hp2 HG02970.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0105 a0001c0001t0004g0014 a0001c0001t0004g0105	3	35	0.0857	-25	c.35- others(40): Show c.35-1604_35-1580delTTTATTTTATTTTATTTTATTTTAT	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	1/8			chr16	TogoVar
NEURL1_chr10_103488705_103597546	103528834	TGGAACTG others(18): Show TGGAACTGGGCAAGTGTTGGAACCAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0123 a0001c0002t0003g0123	1	310	0.0032	-25	c.85+ others(42): Show c.85+34389_85+34413delGAACTGGGCAAGTGTTGGAACCAAG	NEURL1	ENSG00000107954.11	transcript	ENST00000369780.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
NF2_chr22_29598633_29703598	29644895	TGAGAGGG others(18): Show TGAGAGGGAGACCGTGGAAAGAGAGG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01346.hp2 HG01358.hp1 others(2): Show HG01099.hp2 HG01346.hp2 HG01358.hp1 HG02922.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0024 a0001c0001t0065 a0001c0001t0009 a0001c0001t0024 a0001c0001t0065	a0001c0001t0009g0182 a0001c0001t0009g0232 a0001c0001t0024g0019 others(2): Show a0001c0001t0009g0182 a0001c0001t0009g0232 a0001c0001t0024g0019 a0001c0001t0024g0021 a0001c0001t0065g0233	5	342	0.0146	-25	c.447 others(42): Show c.447+2623_447+2647delGTGGAAAGAGAGGGAGAGGGAGACC	NF2	ENSG00000186575.19	transcript	ENST00000338641.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
NFASC_chr1_204823652_205027822	204824311	TGTGTGCA others(18): Show TGTGTGCAAATTGGGATGCAACTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01071.hp1 others(20): Show HG00544.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG02615.hp2 HG02622.hp2 HG02886.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA18955.hp2 NA18962.hp2 NA18969.hp2 NA18970.hp2 NA19011.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0015 others(6): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003 a0002c0006 a0002c0008 a0003c0023 a0003c0024 a0004c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(17): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0023 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0020 a0001c0002t0028 a0001c0002t0044 a0001c0002t0049 a0001c0015t0029 a0002c0003t0002 a0002c0006t0003 a0002c0008t0002 a0002c0008t0012 a0003c0023t0007 a0003c0024t0003 a0004c0011t0005	a0001c0001t0002g0066 a0001c0001t0004g0058 a0001c0001t0006g0067 others(20): Show a0001c0001t0002g0066 a0001c0001t0004g0058 a0001c0001t0006g0067 a0001c0001t0011g0127 a0001c0001t0023g0057 a0001c0002t0001g0065 a0001c0002t0004g0055 a0001c0002t0008g0053 a0001c0002t0008g0054 a0001c0002t0020g0124 a0001c0002t0028g0052 a0001c0002t0044g0122 a0001c0002t0049g0123 a0001c0015t0029g0049 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0006t0003g0128 a0002c0008t0002g0068 a0002c0008t0012g0050 a0002c0008t0012g0126 a0003c0023t0007g0056 a0003c0024t0003g0129 a0004c0011t0005g0051	23	224	0.1027	-25	c.-46 others(36): Show c.-4670_-4646delGTGTGCAAATTGGGATGCAACTTTC	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding		4340		chr1	TogoVar
NFASC_chr1_204823652_205027822	204906750	TCGGCTCA others(18): Show TCGGCTCACTGCAAGCTCCGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG02976.hp1 others(2): Show HG01175.hp2 HG01243.hp1 HG02976.hp1 HG03098.hp2 HG03209.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0002c0008 a0007c0031	a0001c0001t0004 a0001c0004t0041 a0001c0005t0007 others(2): Show a0001c0001t0004 a0001c0004t0041 a0001c0005t0007 a0002c0008t0012 a0007c0031t0001	a0001c0001t0004g0062 a0001c0004t0041g0063 a0001c0005t0007g0064 others(2): Show a0001c0001t0004g0062 a0001c0004t0041g0063 a0001c0005t0007g0064 a0002c0008t0012g0126 a0007c0031t0001g0203	5	224	0.0223	-25	c.-19 others(46): Show c.-199-13881_-199-13857delCGGCTCACTGCAAGCTCCGCCTCC C	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29			chr1	TogoVar
NFASC_chr1_204823652_205027822	204906751	CGGCTCAC others(18): Show CGGCTCACTGCAAGCTCCGCCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00544.hp2 others(78): Show HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02897.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03942.hp1 HG03942.hp2 NA18522.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18962.hp1 NA18969.hp1 NA18974.hp2 NA18982.hp1 NA18986.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19065.hp1 NA19091.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0012	a0001c0001 a0001c0002 a0001c0004 others(22): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0015 a0001c0017 a0001c0022 a0001c0027 a0001c0032 a0001c0035 a0001c0036 a0001c0041 a0001c0042 a0002c0003 a0002c0006 a0002c0007 a0002c0013 a0002c0033 a0003c0009 a0003c0019 a0004c0020 a0005c0046 a0005c0047 a0012c0044	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(48): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0023 a0001c0001t0033 a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0019 a0001c0002t0020 a0001c0002t0028 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0038 a0001c0004t0046 a0001c0005t0001 a0001c0005t0022 a0001c0010t0004 a0001c0010t0024 a0001c0010t0030 a0001c0015t0005 a0001c0015t0048 a0001c0017t0001 a0001c0022t0047 a0001c0027t0014 a0001c0032t0001 a0001c0035t0036 a0001c0036t0043 a0001c0041t0003 a0001c0042t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0045 a0002c0006t0003 a0002c0007t0001 a0002c0013t0001 a0002c0033t0001 a0003c0009t0007 a0003c0019t0003 a0004c0020t0003 a0005c0046t0001 a0005c0047t0021 a0012c0044t0013	a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0106 others(78): Show a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0106 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0006g0003 a0001c0001t0007g0140 a0001c0001t0009g0048 a0001c0001t0011g0127 a0001c0001t0015g0075 a0001c0001t0015g0206 a0001c0001t0023g0152 a0001c0001t0033g0032 a0001c0001t0040g0105 a0001c0002t0001g0172 a0001c0002t0002g0077 a0001c0002t0002g0095 a0001c0002t0002g0143 a0001c0002t0002g0164 a0001c0002t0002g0179 a0001c0002t0002g0182 a0001c0002t0002g0184 a0001c0002t0003g0008 a0001c0002t0004g0004 a0001c0002t0004g0055 a0001c0002t0004g0153 a0001c0002t0004g0176 a0001c0002t0008g0053 a0001c0002t0008g0054 a0001c0002t0008g0131 a0001c0002t0019g0044 a0001c0002t0020g0124 a0001c0002t0028g0052 a0001c0004t0001g0094 a0001c0004t0001g0096 a0001c0004t0001g0139 a0001c0004t0001g0167 a0001c0004t0001g0209 a0001c0004t0002g0034 a0001c0004t0002g0198 a0001c0004t0003g0194 a0001c0004t0038g0089 a0001c0004t0046g0033 a0001c0005t0001g0120 a0001c0005t0022g0142 a0001c0010t0004g0196 a0001c0010t0024g0155 a0001c0010t0030g0213 a0001c0015t0005g0115 a0001c0015t0048g0061 a0001c0017t0001g0188 a0001c0022t0047g0154 a0001c0027t0014g0174 a0001c0032t0001g0190 a0001c0035t0036g0202 a0001c0036t0043g0219 a0001c0041t0003g0059 a0001c0042t0001g0093 a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0035 a0002c0003t0001g0081 a0002c0003t0001g0099 a0002c0003t0001g0125 a0002c0003t0001g0156 a0002c0003t0002g0082 a0002c0003t0006g0220 a0002c0003t0045g0016 a0002c0006t0003g0128 a0002c0007t0001g0104 a0002c0013t0001g0021 a0002c0013t0001g0157 a0002c0013t0001g0205 a0002c0033t0001g0159 a0003c0009t0007g0138 a0003c0009t0007g0151 a0003c0019t0003g0121 a0004c0020t0003g0186 a0005c0046t0001g0036 a0005c0047t0021g0100 a0012c0044t0013g0025	81	224	0.3616	-25	c.-19 others(46): Show c.-199-13874_-199-13850delCTGCAAGCTCCGCCTCCCGGGCTC A	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204906750	TCGGCTCA others(18): Show TCGGCTCACTGCAAGCTCCGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG02809.hp2 others(3): Show HG01175.hp1 HG01243.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0019	a0001c0001t0005 a0001c0002t0003 a0001c0002t0009 others(3): Show a0001c0001t0005 a0001c0002t0003 a0001c0002t0009 a0001c0002t0043 a0001c0003t0007 a0004c0019t0001	a0001c0001t0005g0139 a0001c0002t0003g0227 a0001c0002t0009g0255 others(3): Show a0001c0001t0005g0139 a0001c0002t0003g0227 a0001c0002t0009g0255 a0001c0002t0043g0182 a0001c0003t0007g0181 a0004c0019t0001g0229	6	262	0.0229	-25	c.-91 others(44): Show c.-91+35681_-91+35705delCGGCTCACTGCAAGCTCCGCCTCCC	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27			chr1	TogoVar
NFASC_chr1_204865862_205027822	204906751	CGGCTCAC others(18): Show CGGCTCACTGCAAGCTCCGCCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(96): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18962.hp1 NA18969.hp1 NA18974.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA19002.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19075.hp1 NA19091.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0021 a0002c0013 a0002c0025 a0008c0023 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0036 a0001c0001t0041 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0021 a0001c0002t0022 a0001c0002t0032 a0001c0002t0039 a0001c0002t0046 a0001c0002t0049 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0024 a0001c0004t0001 a0001c0004t0038 a0001c0005t0003 a0001c0005t0051 a0001c0006t0004 a0001c0006t0005 a0001c0006t0017 a0001c0006t0034 a0001c0007t0016 a0001c0010t0025 a0001c0012t0001 a0001c0021t0001 a0002c0013t0001 a0002c0025t0013 a0008c0023t0012 a0009c0018t0001	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0083 others(95): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0153 a0001c0001t0006g0024 a0001c0001t0006g0257 a0001c0001t0010g0112 a0001c0001t0011g0242 a0001c0001t0014g0064 a0001c0001t0015g0025 a0001c0001t0025g0088 a0001c0001t0027g0087 a0001c0001t0029g0073 a0001c0001t0036g0203 a0001c0001t0041g0188 a0001c0001t0048g0195 a0001c0002t0001g0013 a0001c0002t0001g0050 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0014 a0001c0002t0002g0055 a0001c0002t0002g0077 a0001c0002t0002g0116 a0001c0002t0002g0128 a0001c0002t0002g0151 a0001c0002t0002g0205 a0001c0002t0004g0034 a0001c0002t0004g0133 a0001c0002t0004g0217 a0001c0002t0004g0230 a0001c0002t0004g0248 a0001c0002t0005g0026 a0001c0002t0005g0046 a0001c0002t0005g0213 a0001c0002t0005g0254 a0001c0002t0008g0222 a0001c0002t0008g0238 a0001c0002t0008g0252 a0001c0002t0008g0253 a0001c0002t0021g0156 a0001c0002t0022g0039 a0001c0002t0032g0251 a0001c0002t0039g0160 a0001c0002t0046g0172 a0001c0002t0049g0200 a0001c0003t0001g0127 a0001c0003t0001g0137 a0001c0003t0004g0038 a0001c0003t0007g0042 a0001c0003t0007g0044 a0001c0003t0024g0041 a0001c0004t0001g0003 a0001c0004t0001g0051 a0001c0004t0001g0053 a0001c0004t0001g0058 a0001c0004t0001g0063 a0001c0004t0001g0076 a0001c0004t0001g0078 a0001c0004t0001g0130 a0001c0004t0038g0132 a0001c0005t0003g0218 a0001c0005t0051g0033 a0001c0006t0004g0184 a0001c0006t0005g0054 a0001c0006t0017g0134 a0001c0006t0017g0135 a0001c0006t0034g0030 a0001c0007t0016g0104 a0001c0010t0025g0049 a0001c0012t0001g0067 a0001c0012t0001g0117 a0001c0021t0001g0150 a0002c0013t0001g0084 a0002c0025t0013g0148 a0008c0023t0012g0192 a0009c0018t0001g0191	99	262	0.3779	-25	c.-91 others(44): Show c.-91+35688_-91+35712delCTGCAAGCTCCGCCTCCCGGGCTCA	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFATC1_chr18_79390930_79534323	79409270	TATCATCC others(18): Show TATCATCCATCCATCATTATCTATCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02257.hp1 others(8): Show HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0001c0015 a0001c0056 others(1): Show a0001c0013 a0001c0015 a0001c0056 a0002c0023	a0001c0013t0005 a0001c0013t0007 a0001c0013t0025 others(4): Show a0001c0013t0005 a0001c0013t0007 a0001c0013t0025 a0001c0013t0056 a0001c0015t0007 a0001c0056t0009 a0002c0023t0019	a0001c0013t0005g0114 a0001c0013t0005g0310 a0001c0013t0007g0112 others(8): Show a0001c0013t0005g0114 a0001c0013t0005g0310 a0001c0013t0007g0112 a0001c0013t0007g0113 a0001c0013t0025g0046 a0001c0013t0056g0110 a0001c0015t0007g0288 a0001c0056t0009g0140 a0002c0023t0019g0317 a0002c0023t0019g0318 a0002c0023t0019g0319	11	320	0.0344	-25	c.128 others(42): Show c.128-1119_128-1095delCATTATCTATCCATCATCCATCCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79458290	CGGCACGA others(18): Show CGGCACGAGGACGCCGCGGGGAGCAG	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0004 a0001c0029t0004	a0001c0029t0004g0096 a0001c0029t0004g0098 a0001c0029t0004g0096 a0001c0029t0004g0098	2	320	0.0063	-25	c.190 others(44): Show c.1904-3010_1904-2986delCGCCGCGGGGAGCAGGGCACGAGGA	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC4_chr14_24363184_24384601	24382005	ATTCCTTT others(18): Show ATTCCTTTCAGTTCTTCCTGGATGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0001 a0003c0018t0001	a0003c0018t0001g0042 a0003c0018t0001g0042	1	392	0.0026	-25	c.43 others(36): Show c.4301_*4325delTTCCTTTCAGTTCTTCCTGGATGTC	NFATC4	ENSG00000100968.14	transcript	ENST00000250373.9	protein_coding		2405		chr14	TogoVar
NFIA_chr1_61077561_61467788	61080952	CTTAACAC others(18): Show CTTAACACATCACTCACCCTCACTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0001t0044 a0001c0002t0001 a0001c0001t0029 a0001c0001t0044 a0001c0002t0001	a0001c0001t0029g0007 a0001c0001t0044g0063 a0001c0002t0001g0064 a0001c0001t0029g0007 a0001c0001t0044g0063 a0001c0002t0001g0064	3	154	0.0195	-25	c.-18 others(36): Show c.-1839_-1815delTTAACACATCACTCACCCTCACTTG	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		1608		chr1	TogoVar
NFIB_chr9_14076848_14319141	14080447	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00642.hp1 others(21): Show HG00597.hp2 HG00639.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01261.hp1 HG01891.hp2 HG02040.hp1 HG02145.hp1 HG02280.hp2 HG02630.hp2 HG02647.hp1 HG02735.hp1 HG02818.hp1 HG03130.hp1 HG03195.hp1 NA18522.hp2 NA18612.hp2 NA18971.hp2 NA18973.hp2 NA18981.hp1 NA18985.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(8): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0025 a0001c0001t0053 a0001c0001t0060 a0001c0001t0075 a0001c0001t0081 a0001c0001t0091 a0001c0001t0104	a0001c0001t0006g0017 a0001c0001t0006g0039 a0001c0001t0006g0054 others(21): Show a0001c0001t0006g0017 a0001c0001t0006g0039 a0001c0001t0006g0054 a0001c0001t0006g0075 a0001c0001t0006g0077 a0001c0001t0006g0080 a0001c0001t0007g0104 a0001c0001t0007g0142 a0001c0001t0007g0220 a0001c0001t0007g0234 a0001c0001t0008g0177 a0001c0001t0008g0214 a0001c0001t0012g0114 a0001c0001t0012g0240 a0001c0001t0012g0242 a0001c0001t0012g0297 a0001c0001t0012g0298 a0001c0001t0025g0062 a0001c0001t0053g0011 a0001c0001t0060g0084 a0001c0001t0075g0293 a0001c0001t0081g0302 a0001c0001t0091g0217 a0001c0001t0104g0160	24	46	0.5217	-25	c.78 others(36): Show c.7837_*7861delAAAAAAAAAAAAAAAAAAAAAAAAA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding		1400		chr9	TogoVar
NFIC_chr19_3361583_3474217	3414592	CTAAAATA others(18): Show CTAAAATAAAATAAAATAAAATAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18979.hp2 HG03041.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0119 a0001c0001t0026 a0001c0001t0119	a0001c0001t0026g0234 a0001c0001t0119g0167 a0001c0001t0026g0234 a0001c0001t0119g0167	2	11	0.1818	-25	c.563 others(44): Show c.563-10480_563-10456delAATAAAATAAAATAAAATAAAATAA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFS1_chr20_35663052_35704352	35702451	TGGCACAG others(18): Show TGGCACAGATGAGATTAACCACTAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01891.hp2 HG02109.hp1 others(7): Show HG01361.hp2 HG01891.hp2 HG02109.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02886.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0081 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086	10	266	0.0376	-25	c.-31 others(36): Show c.-3188_-3164delTTTAGTGGTTAATCTCATCTGTGCC	NFS1	ENSG00000244005.13	transcript	ENST00000374092.9	protein_coding		3100		chr20	TogoVar
NGB_chr14_77260483_77276206	77269667	TTTCTCTC others(18): Show TTTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	337	0.0030	-25	c.90- others(38): Show c.90-366_90-342delGAGAGAGAGAGAGAGAGAGAGAGAA	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232995163	ACTGTATA others(18): Show ACTGTATATGTGTACAGTATGTATGC	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18957.hp2 NA18965.hp2 others(1): Show NA18747.hp2 NA18957.hp2 NA18965.hp2 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0002c0008 a0001c0004 a0002c0006 a0002c0008	a0001c0004t0017 a0002c0006t0018 a0002c0008t0004 others(1): Show a0001c0004t0017 a0002c0006t0018 a0002c0008t0004 a0002c0008t0017	a0001c0004t0017g0004 a0002c0006t0018g0005 a0002c0008t0004g0207 others(1): Show a0001c0004t0017g0004 a0002c0006t0018g0005 a0002c0008t0004g0207 a0002c0008t0017g0006	4	360	0.0111	-25	c.-75 others(44): Show c.-75+17880_-75+17904delGCATACATACTGTACACATATACAG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGF_chr1_115280917_115343249	115333689	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	416	0.0024	-25	c.-13 others(44): Show c.-137+4490_-137+4514delAGAAAGAAAGAAAGAAAGAAAGAAA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGF_chr1_115280917_115343249	115333702	TTTCTTTC others(18): Show TTTCTTTCTTTCTTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	415	0.0024	-25	c.-13 others(44): Show c.-137+4477_-137+4501delGGAAAGAAAGAAAAGAAAGAAAGAA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG04228.hp2 others(2): Show HG00741.hp1 HG01891.hp1 HG04228.hp2 NA18974.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0086 a0001c0001t0001g0220 a0001c0001t0001g0222	5	6	0.8333	-25	c.492 others(42): Show c.492+3181_492+3205delTTTTTTTTTTTTTTTTTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NGLY1_chr3_25713944_25788443	25783561	GTCCTCGG others(18): Show GTCCTCGGCCGGCAGGGGCGGGGTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	262	0.0038	-25	c.-19 others(34): Show c.-196_-172delAGACCCCGCCCCTGCCGGCCGAGGA	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding		119		chr3	TogoVar
NHLRC2_chr10_113849661_113922194	113860503	AAAGAACA others(18): Show AAAGAACAGGGAAGTACAGCCCATTC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	356	0.0028	-25	c.331 others(42): Show c.331+1851_331+1875delGAACAGGGAAGTACAGCCCATTCAA	NHLRC2	ENSG00000196865.4	transcript	ENST00000369301.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
NHSL2_chrX_71905845_72158286	72039067	TTTTCCTT others(18): Show TTTTCCTTTCCTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG06807.hp2 NA19043.hp1 HG02896.hp2 HG06807.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0013 a0002c0002t0003 a0001c0003t0013 a0002c0002t0003	a0001c0003t0013g0053 a0001c0003t0013g0140 a0002c0002t0003g0088 a0001c0003t0013g0053 a0001c0003t0013g0140 a0002c0002t0003g0088	3	26	0.1154	-25	c.281 others(44): Show c.281-92954_281-92930delTCCTTTCCTTTCCTTTCCTTTCCTT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17425522	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	24	0.0417	-25	c.565 others(44): Show c.565+49225_565+49249delAAAAAAAAAAAAAAAAAAAAAAAAA	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17425551	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	164	0.0061	-25	c.565 others(44): Show c.565+49233_565+49257delAAAAAAAAAAAAAAAAAGAAAGAAA	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127523189	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	322	0.0031	-25	c.589 others(40): Show c.589+465_589+489delATATATATATATATATATATATTTT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523191	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02280.hp1 HG02970.hp2 others(2): Show HG01433.hp1 HG02280.hp1 HG02970.hp2 NA18906.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0260 a0001c0001t0003g0147 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0260 a0001c0001t0003g0147 a0001c0001t0003g0177 a0001c0001t0003g0204	5	311	0.0161	-25	c.589 others(40): Show c.589+463_589+487delATATATATATATATATATATATATT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523193	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG00673.hp2 others(21): Show HG00423.hp2 HG00639.hp2 HG00673.hp2 HG01071.hp1 HG01074.hp2 HG01261.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp1 HG03491.hp1 HG04184.hp2 HG04199.hp2 NA18962.hp2 NA18983.hp1 NA19043.hp2 NA19083.hp1 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034	a0001c0001t0001g0279 a0001c0001t0003g0003 a0001c0001t0003g0146 others(21): Show a0001c0001t0001g0279 a0001c0001t0003g0003 a0001c0001t0003g0146 a0001c0001t0003g0151 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0265 a0001c0001t0003g0271 a0001c0001t0003g0277 a0001c0001t0003g0295 a0001c0001t0003g0301 a0001c0001t0003g0311 a0001c0001t0004g0045 a0001c0001t0004g0051 a0001c0001t0004g0059 a0001c0001t0004g0077 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0101 a0001c0001t0019g0228 a0001c0001t0027g0015 a0001c0001t0033g0192 a0001c0001t0034g0321	24	268	0.0896	-25	c.589 others(40): Show c.589+461_589+485delATATATATATATATATATATATATA	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIBAN3_chr19_17522267_17558640	17541644	CTTATTTT others(18): Show CTTATTTTATTTTATTTTATTTTATT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18952.hp2 NA18963.hp2 others(4): Show NA18951.hp1 NA18952.hp2 NA18963.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA19054.hp2	a0005 a0005	a0005c0006 a0005c0011 a0005c0006 a0005c0011	a0005c0006t0006 a0005c0006t0013 a0005c0011t0006 a0005c0006t0006 a0005c0006t0013 a0005c0011t0006	a0005c0006t0006g0026 a0005c0006t0006g0166 a0005c0006t0006g0167 others(4): Show a0005c0006t0006g0026 a0005c0006t0006g0166 a0005c0006t0006g0167 a0005c0006t0006g0168 a0005c0006t0006g0169 a0005c0006t0013g0026 a0005c0011t0006g0061	7	80	0.0875	-25	c.117 others(42): Show c.1171-454_1171-430delATTTTATTTTATTTTATTTTATTTT	NIBAN3	ENSG00000167483.19	transcript	ENST00000599164.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NIBAN3_chr19_17522267_17558640	17545161	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02572.hp1 others(7): Show HG01884.hp2 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 NA19240.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0010 a0002c0007t0014 a0002c0007t0001 a0002c0007t0010 a0002c0007t0014	a0002c0007t0001g0174 a0002c0007t0001g0175 a0002c0007t0010g0009 others(4): Show a0002c0007t0001g0174 a0002c0007t0001g0175 a0002c0007t0010g0009 a0002c0007t0010g0184 a0002c0007t0010g0185 a0002c0007t0014g0041 a0002c0007t0014g0303	10	132	0.0758	-25	c.155 others(44): Show c.1555-1491_1555-1467delATTTTATTTTATTTTATTTTATTTT	NIBAN3	ENSG00000167483.19	transcript	ENST00000599164.6	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NIM1K_chr5_43187225_43285850	43213284	CCTTTCCT others(18): Show CCTTTCCTTTTCTTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01515.hp2 HG01517.hp1 others(6): Show HG01167.hp2 HG01515.hp2 HG01517.hp1 HG03471.hp2 NA18944.hp1 NA18954.hp1 NA18968.hp1 NA19083.hp1 NA19240.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0008 a0007c0011 a0001c0001 a0006c0008 a0007c0011	a0001c0001t0001 a0006c0008t0001 a0007c0011t0001 a0001c0001t0001 a0006c0008t0001 a0007c0011t0001	a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0115 others(6): Show a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0153 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0006c0008t0001g0089 a0007c0011t0001g0139	9	80	0.1125	-25	c.-69 others(46): Show c.-695+20878_-695+20902delCCTTTTCTTTTCTTTTCTTTTCTT T	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ2_chr12_559296_668445	603252	CCCTAAAA others(18): Show CCCTAAAATTTGATTATTTGTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	402	0.0025	-25	c.34- others(42): Show c.34-37099_34-37075delAAAAGACAAATAATCAAATTTTAGG	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	618317	GAGGTGGG others(18): Show GAGGTGGGGGTGAGGAGTTGGTAATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG01081.hp2 others(16): Show HG00423.hp2 HG00609.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG02738.hp2 HG03017.hp1 HG03491.hp2 HG03831.hp1 HG03942.hp1 HG04204.hp1 NA18948.hp1 NA18953.hp1 NA18961.hp2 NA18983.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0078 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0301 a0001c0001t0001g0336 a0001c0001t0002g0016 a0001c0001t0002g0057	19	402	0.0473	-25	c.33+ others(42): Show c.33+44986_33+45010delTATTACCAACTCCTCACCCCCACCT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	658646	TTATGCTA others(18): Show TTATGCTATGCTATGCTATGCTATGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01496.hp1 others(9): Show HG00735.hp2 HG01243.hp1 HG01496.hp1 HG02132.hp1 HG02145.hp1 HG02622.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03491.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0079 others(9): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0118 a0001c0001t0001g0176 a0001c0001t0001g0271 a0001c0001t0001g0326 a0001c0001t0001g0400 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0264	12	19	0.6316	-25	c.33+ others(40): Show c.33+4657_33+4681delGCATAGCATAGCATAGCATAGCATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NISCH_chr3_52450604_52498068	52479656	CTCACCAG others(18): Show CTCACCAGTCCCCATGCTGATAGCCA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04204.hp2 NA19058.hp2 HG02015.hp2 HG04204.hp2 NA19058.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0001 a0008c0014t0005 a0008c0014t0008 a0001c0001t0001 a0008c0014t0005 a0008c0014t0008	a0001c0001t0001g0172 a0008c0014t0005g0040 a0008c0014t0008g0039 a0001c0001t0001g0172 a0008c0014t0005g0040 a0008c0014t0008g0039	3	305	0.0098	-25	c.130 others(40): Show c.1303-42_1303-18delTCACCAGTCCCCATGCTGATAGCCA	NISCH	ENSG00000010322.16	transcript	ENST00000345716.9	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
NKAIN2_chr6_123798865_124830640	124616437	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20905.hp2 NA21309.hp2 HG03195.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0002g0054 a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0002g0054	3	20	0.1500	-25	c.274 others(44): Show c.274-41719_274-41695delTTTTTTTTTTTTTTTTTTTTTTTTT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62859545	ATTTAACC others(18): Show ATTTAACCAAATTAAATAAATAACAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0083 a0002c0003t0083	a0002c0003t0083g0139 a0002c0003t0083g0139	1	144	0.0069	-25	c.472 others(44): Show c.472-58897_472-58873delTTAAATAAATAACATTTTAACCAAA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKD1_chr16_50543396_50654249	50589694	TTTCTCTT others(18): Show TTTCTCTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02615.hp1 others(8): Show HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02897.hp1 HG03041.hp2 HG03225.hp1 HG03516.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0033	a0001c0001t0001g0038 a0001c0001t0011g0012 a0001c0001t0011g0014 others(8): Show a0001c0001t0001g0038 a0001c0001t0011g0012 a0001c0001t0011g0014 a0001c0001t0011g0015 a0001c0001t0011g0037 a0001c0001t0012g0204 a0001c0001t0012g0205 a0001c0001t0012g0206 a0001c0001t0014g0016 a0001c0001t0014g0018 a0001c0001t0033g0019	11	68	0.1618	-25	c.193 others(44): Show c.193-18553_193-18529delTCTCTTCTCTTCTCTTCTCTTCTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD1_chr16_50543396_50654249	50589746	TCTCTTCT others(18): Show TCTCTTCTCTTCTCTTCTCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp2 NA19000.hp1 HG00741.hp1 HG01192.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0004 a0001c0001t0005 a0001c0003t0004	a0001c0001t0005g0170 a0001c0001t0005g0176 a0001c0003t0004g0180 a0001c0001t0005g0170 a0001c0001t0005g0176 a0001c0003t0004g0180	3	203	0.0148	-25	c.193 others(44): Show c.193-18543_193-18519delTCTCTTCTCTTCTCTCCTCTCCTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD1_chr16_50543396_50654249	50589751	TCTCTTCT others(18): Show TCTCTTCTCTTCTCTCCTCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0167 a0001c0001t0005g0167	1	202	0.0050	-25	c.193 others(44): Show c.193-18538_193-18514delTCTCTTCTCTCCTCTCCTCTCCTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD2_chr5_1003802_1043943	1028122	TGGGCTGG others(18): Show TGGGCTGGGACCAGGACGGGGGCTGG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01496.hp2 others(7): Show HG00639.hp1 HG00741.hp1 HG01496.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02897.hp1 HG03654.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0183 a0001c0002t0001g0226 a0001c0002t0003g0004 others(5): Show a0001c0002t0001g0183 a0001c0002t0001g0226 a0001c0002t0003g0004 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0109 a0001c0002t0003g0268	10	318	0.0314	-25	c.142 others(42): Show c.142-4028_142-4004delGGCTGGGACCAGGACGGGGGCTGGG	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLN_chr5_65717205_65834283	65738926	GTGTATAT others(18): Show GTGTATATATATTTTTTATATATGTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03579.hp2 HG01167.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0277 a0002c0004t0017g0292 a0002c0004t0017g0277 a0002c0004t0017g0292	2	323	0.0062	-25	c.41+ others(42): Show c.41+16514_41+16538delGTATATATATTTTTTATATATGTTT	NLN	ENSG00000123213.23	transcript	ENST00000380985.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRP2B_chrX_57672067_57685260	57682131	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03139.hp1 HG03195.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	3	54	0.0556	-25	c.-18 others(36): Show c.-1896_-1872delAAAAAAAAAAAAAAAAAAAAAAAAA	NLRP2B	ENSG00000215174.2	transcript	ENST00000434992.1	protein_coding		1872		chrX	TogoVar
NLRP8_chr19_55942832_55993629	55957671	AATTATAT others(18): Show AATTATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG01175.hp1 others(15): Show HG00323.hp1 HG00609.hp1 HG01175.hp1 HG01192.hp1 HG01515.hp2 HG01517.hp2 HG02257.hp1 HG02486.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp2 HG03540.hp1 NA18949.hp1 NA18968.hp1 NA18999.hp1 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0015 others(5): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0015 a0003c0004t0016 a0003c0004t0024 a0003c0004t0032 a0003c0004t0037 a0003c0004t0038	a0003c0004t0001g0022 a0003c0004t0001g0174 a0003c0004t0001g0194 others(14): Show a0003c0004t0001g0022 a0003c0004t0001g0174 a0003c0004t0001g0194 a0003c0004t0001g0196 a0003c0004t0001g0198 a0003c0004t0001g0200 a0003c0004t0001g0201 a0003c0004t0002g0218 a0003c0004t0015g0203 a0003c0004t0015g0204 a0003c0004t0015g0206 a0003c0004t0015g0211 a0003c0004t0016g0217 a0003c0004t0024g0216 a0003c0004t0032g0205 a0003c0004t0037g0224 a0003c0004t0038g0197	18	316	0.0570	-25	c.204 others(44): Show c.2042+1574_2042+1598delTATATATATATATATATATATATAT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957677	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0140 a0001c0002t0010g0140	1	321	0.0031	-25	c.204 others(44): Show c.2042+1578_2042+1602delTATATATATATATATATATATATAT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9			chr19	TogoVar
NMBR_chr6_142069484_142152122	142125852	TTGTGTGT others(18): Show TTGTGTGTGTGATAATTACCTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0049 a0002c0002t0029g0049	1	328	0.0030	-25	c.-66 others(46): Show c.-664+21167_-664+21191delCACACAGGTAATTATCACACACAC A	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	1/3			chr6	TogoVar

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