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
NEU4_chr2_241804193_241822413	241805963	T T	TCTGCAGG others(42): Show TCTGCAGGCCACCCTCCCTCCTCCTCAGCCCAGGGACCTCCGCAGGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0143 a0002c0003t0002g0143	1	319	0.0031	49	c.-33 others(60): Show c.-3315_-3314insCTGCAGGCCACCCTCCCTCCTCCTCAGCCCAGGG ACCTCCGCAGGCCAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NF1_chr17_31089977_31382675	31335275	T T	TATATATA others(42): Show TATATATATTTATAATATAATCCTACATATAATCCTATATAATTATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01243.hp2 others(2): Show HG01069.hp1 HG01071.hp1 HG01243.hp2 HG02055.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0007 a0001c0003t0003g0008 a0001c0003t0003g0009 others(2): Show a0001c0003t0003g0007 a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0032 a0001c0003t0003g0033	5	252	0.0198	49	c.600 others(66): Show c.6006+252_6006+253insTTATAATATAATCCTACATATAATCCTA TATAATTATATACATATATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFATC1_chr18_79390930_79534323	79395681	C C	CCCCCCTC others(42): Show CCCCCCTCCCCGGGCACCCCCCCTCCCCGTGCGCCCCCCCTCCCCGTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0009 a0009	a0009c0033 a0009c0033	a0009c0033t0026 a0009c0033t0026	a0009c0033t0026g0101 a0009c0033t0026g0101	1	322	0.0031	49	c.-54 others(58): Show c.-544_-543insCCCCCTCCCCGGGCACCCCCCCTCCCCGTGCGCCCC CCCTCCCCGTGCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		248		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79395681	C C	CCCCCCTC others(42): Show CCCCCCTCCCCGGGCGCCCCCCCTCCCCGTGCGCCCCCCCTCCCCGTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0025 a0001c0013t0025	a0001c0013t0025g0046 a0001c0013t0025g0046	1	322	0.0031	49	c.-54 others(58): Show c.-544_-543insCCCCCTCCCCGGGCGCCCCCCCTCCCCGTGCGCCCC CCCTCCCCGTGCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		248		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494807	C C	CCGCCGGG others(42): Show CCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	322	0.0031	49	c.278 others(68): Show c.2782+7870_2782+7871insCGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATGAACCTGGTGCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9			chr18	TogoVar
NFATC1_chr18_79390930_79534323	79495970	A A	AGTGTCAC others(42): Show AGTGTCACTGTAACGCAGGCAAGCCGTGAACAGTAGTAAGGCGTCCGCGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01256.hp2 others(13): Show HG00323.hp2 HG00733.hp2 HG01256.hp2 HG01261.hp1 HG01496.hp1 HG01517.hp2 HG01975.hp2 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0027 a0001c0029 a0001c0053 others(2): Show a0001c0027 a0001c0029 a0001c0053 a0002c0047 a0003c0007	a0001c0027t0008 a0001c0029t0004 a0001c0053t0003 others(5): Show a0001c0027t0008 a0001c0029t0004 a0001c0053t0003 a0002c0047t0022 a0003c0007t0002 a0003c0007t0003 a0003c0007t0008 a0003c0007t0024	a0001c0027t0008g0013 a0001c0027t0008g0030 a0001c0029t0004g0096 others(13): Show a0001c0027t0008g0013 a0001c0027t0008g0030 a0001c0029t0004g0096 a0001c0029t0004g0098 a0001c0053t0003g0180 a0002c0047t0022g0229 a0003c0007t0002g0014 a0003c0007t0002g0021 a0003c0007t0003g0179 a0003c0007t0008g0017 a0003c0007t0008g0019 a0003c0007t0008g0020 a0003c0007t0008g0029 a0003c0007t0008g0031 a0003c0007t0008g0032 a0003c0007t0024g0146	16	322	0.0497	49	c.278 others(68): Show c.2782+9038_2782+9086dupCACTGTAACGCAGGCAAGCCGTGAAC AGTAGTAAGGCGTCCGCGGGTGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232905895	G G	GGGGGGTC others(42): Show GGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(229): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0012 a0001c0013 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0002c0014 a0002c0018 a0004c0016 a0005c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0016 a0001c0002t0028 a0001c0002t0035 a0001c0003t0005 a0001c0003t0010 a0001c0004t0003 a0001c0004t0004 a0001c0004t0014 a0001c0004t0017 a0001c0004t0024 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0006 a0001c0005t0016 a0001c0011t0001 a0001c0012t0001 a0001c0012t0010 a0001c0013t0001 a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 a0002c0006t0006 a0002c0006t0007 a0002c0006t0008 a0002c0006t0030 a0002c0008t0004 a0002c0008t0017 a0002c0009t0002 a0002c0010t0003 a0002c0010t0012 a0002c0014t0002 a0002c0018t0002 a0004c0016t0022 a0005c0017t0003	a0001c0001t0001g0049 a0001c0001t0001g0165 a0001c0001t0001g0337 others(228): Show a0001c0001t0001g0049 a0001c0001t0001g0165 a0001c0001t0001g0337 a0001c0001t0002g0001 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0198 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0241 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0336 a0001c0001t0002g0356 a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0005g0160 a0001c0001t0006g0013 a0001c0001t0006g0083 a0001c0001t0006g0108 a0001c0001t0006g0207 a0001c0001t0006g0249 a0001c0001t0006g0275 a0001c0001t0006g0301 a0001c0001t0006g0308 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0007g0044 a0001c0001t0007g0172 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0008g0059 a0001c0001t0008g0060 a0001c0001t0008g0107 a0001c0001t0008g0119 a0001c0001t0008g0135 a0001c0001t0008g0161 a0001c0001t0008g0176 a0001c0001t0008g0230 a0001c0001t0008g0345 a0001c0001t0008g0346 a0001c0001t0009g0040 a0001c0001t0009g0233 a0001c0001t0009g0245 a0001c0001t0009g0270 a0001c0001t0009g0333 a0001c0001t0013g0053 a0001c0001t0013g0054 a0001c0001t0013g0055 a0001c0001t0013g0137 a0001c0001t0013g0193 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0015g0236 a0001c0001t0015g0276 a0001c0001t0015g0280 a0001c0001t0015g0281 a0001c0001t0016g0238 a0001c0001t0025g0008 a0001c0001t0026g0261 a0001c0001t0029g0128 a0001c0001t0031g0021 a0001c0001t0032g0234 a0001c0001t0033g0106 a0001c0002t0003g0012 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0127 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0163 a0001c0002t0003g0167 a0001c0002t0003g0202 a0001c0002t0003g0211 a0001c0002t0003g0215 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0268 a0001c0002t0003g0282 a0001c0002t0003g0290 a0001c0002t0003g0298 a0001c0002t0003g0305 a0001c0002t0003g0309 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0009g0116 a0001c0002t0011g0019 a0001c0002t0011g0122 a0001c0002t0011g0131 a0001c0002t0011g0133 a0001c0002t0011g0140 a0001c0002t0011g0251 a0001c0002t0011g0289 a0001c0002t0011g0291 a0001c0002t0012g0056 a0001c0002t0012g0063 a0001c0002t0012g0068 a0001c0002t0012g0200 a0001c0002t0012g0225 a0001c0002t0016g0023 a0001c0002t0028g0020 a0001c0002t0035g0361 a0001c0003t0005g0344 a0001c0003t0010g0022 a0001c0003t0010g0048 a0001c0003t0010g0146 a0001c0003t0010g0147 a0001c0003t0010g0148 a0001c0003t0010g0149 a0001c0003t0010g0151 a0001c0003t0010g0335 a0001c0004t0003g0168 a0001c0004t0003g0194 a0001c0004t0003g0205 a0001c0004t0003g0206 a0001c0004t0003g0209 a0001c0004t0003g0216 a0001c0004t0003g0244 a0001c0004t0004g0032 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0035 a0001c0004t0004g0036 a0001c0004t0004g0037 a0001c0004t0004g0038 a0001c0004t0004g0039 a0001c0004t0004g0045 a0001c0004t0004g0067 a0001c0004t0004g0072 a0001c0004t0004g0080 a0001c0004t0004g0086 a0001c0004t0004g0090 a0001c0004t0004g0099 a0001c0004t0004g0138 a0001c0004t0004g0174 a0001c0004t0004g0192 a0001c0004t0004g0195 a0001c0004t0004g0196 a0001c0004t0004g0210 a0001c0004t0004g0218 a0001c0004t0004g0219 a0001c0004t0004g0220 a0001c0004t0004g0221 a0001c0004t0004g0223 a0001c0004t0004g0226 a0001c0004t0004g0243 a0001c0004t0004g0331 a0001c0004t0014g0187 a0001c0004t0014g0208 a0001c0004t0017g0003 a0001c0004t0024g0010 a0001c0005t0001g0117 a0001c0005t0002g0015 a0001c0005t0005g0287 a0001c0005t0006g0105 a0001c0005t0016g0248 a0001c0011t0001g0182 a0001c0012t0001g0058 a0001c0012t0010g0340 a0001c0013t0001g0027 a0001c0013t0001g0256 a0001c0013t0001g0278 a0002c0006t0001g0103 a0002c0006t0002g0354 a0002c0006t0005g0288 a0002c0006t0006g0018 a0002c0006t0006g0074 a0002c0006t0006g0076 a0002c0006t0006g0095 a0002c0006t0006g0295 a0002c0006t0007g0031 a0002c0006t0008g0096 a0002c0006t0008g0100 a0002c0006t0008g0111 a0002c0006t0008g0124 a0002c0006t0030g0341 a0002c0008t0004g0069 a0002c0008t0004g0073 a0002c0008t0004g0078 a0002c0008t0004g0079 a0002c0008t0004g0081 a0002c0008t0004g0082 a0002c0008t0004g0132 a0002c0008t0004g0143 a0002c0008t0004g0144 a0002c0008t0004g0145 a0002c0008t0004g0357 a0002c0008t0017g0005 a0002c0009t0002g0253 a0002c0009t0002g0254 a0002c0009t0002g0255 a0002c0010t0003g0139 a0002c0010t0003g0292 a0002c0010t0003g0297 a0002c0010t0003g0322 a0002c0010t0003g0323 a0002c0010t0003g0326 a0002c0010t0003g0327 a0002c0010t0012g0296 a0002c0014t0002g0355 a0002c0018t0002g0359 a0004c0016t0022g0006 a0005c0017t0003g0260	232	362	0.6409	49	c.829 others(68): Show c.829-10980_829-10979insTCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGAGGGGCTGACCCCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232906509	T T	TGGGAGGG others(42): Show TGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCAGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0030 a0002c0006t0030	a0002c0006t0030g0341 a0002c0006t0030g0341	1	362	0.0028	49	c.829 others(68): Show c.829-11594_829-11593insGGACGGGGCTGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232906509	T T	TGGGAGGG others(42): Show TGGGAGGGAGGTGGGGGGGTCAGCTCCCCGCCCGGCCAGCCGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG03195.hp1 others(4): Show HG01109.hp1 HG02647.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0013 others(1): Show a0001c0001 a0001c0004 a0001c0013 a0002c0018	a0001c0001t0014 a0001c0004t0024 a0001c0013t0001 others(1): Show a0001c0001t0014 a0001c0004t0024 a0001c0013t0001 a0002c0018t0002	a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0004t0024g0010 others(4): Show a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0004t0024g0010 a0001c0013t0001g0027 a0001c0013t0001g0256 a0001c0013t0001g0278 a0002c0018t0002g0359	7	362	0.0193	49	c.829 others(68): Show c.829-11594_829-11593insGGACGGGGCGGCTGGCCGGGCGGGGA GCTGACCCCCCCACCTCCCTCCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232906558	C C	CGGGAGGG others(42): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGTCAGCCACCCCGTCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19057.hp2 HG02083.hp1 NA19057.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0098 a0001c0007t0001g0199 a0001c0007t0001g0098 a0001c0007t0001g0199	2	362	0.0055	49	c.829 others(68): Show c.829-11643_829-11642insAGACGGGGTGGCTGACCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NIBAN1_chr1_184786032_184979508	184913138	T T	TATATATA others(42): Show TATATATATATATATATGATATATATATATATATTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0250 a0009c0017t0001g0250	1	256	0.0039	49	c.56- others(66): Show c.56-13830_56-13829insCATATATATATATATAATATATATATAT ATATCATATATATATATATAT	NIBAN1	ENSG00000135842.17	transcript	ENST00000367511.4	protein_coding	1/13			chr1	TogoVar
NID2_chr14_51999809_52074059	52030567	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG02109.hp2 HG00639.hp1 HG01109.hp2 HG02109.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0302 a0004c0012t0002g0303 a0004c0012t0002g0307 a0004c0012t0002g0302 a0004c0012t0002g0303 a0004c0012t0002g0307	3	372	0.0081	49	c.225 others(66): Show c.2258-878_2258-877insGTTCTTTCTTTCTTTTCTTTCTTTCTCT TTCTTTCTCTTTCTTTCTTTC	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NINL_chr20_25447697_25590531	25549210	C C	CCCCGGCA others(42): Show CCCCGGCACCCACGGCCACACCTCCCACACCCAGCCTCACCCAGGCCTGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0030 a0003c0003t0004g0030	1	310	0.0032	49	c.-11 others(68): Show c.-11-22613_-11-22612insTCAGGCCTGGGTGAGGCTGGGTGTGG GAGGTGTGGCCGTGGGTGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NLK_chr17_28037677_28201381	28172264	A A	AAATTCCT others(42): Show AAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAATTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp2 HG03486.hp2 HG02717.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0013	3	108	0.0278	49	c.104 others(66): Show c.1048-253_1048-252insAATTCCTTTACATGAGGAATTTATTTAA ATTCCTTTACATGAGGAATTT	NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding	6/10			chr17	TogoVar
NLRP2_chr19_54961374_55006138	54999009	T T	TGGGGGGC others(42): Show TGGGGGGCTAACCCCGCCACCTCCCTCCCGGACTGGGTGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02896.hp2 HG02970.hp2 others(1): Show HG02004.hp2 HG02896.hp2 HG02970.hp2 NA19240.hp1	a0019 a0023 a0024 others(1): Show a0019 a0023 a0024 a0030	a0019c0059 a0023c0045 a0024c0062 others(1): Show a0019c0059 a0023c0045 a0024c0062 a0030c0061	a0019c0059t0016 a0023c0045t0016 a0024c0062t0015 others(1): Show a0019c0059t0016 a0023c0045t0016 a0024c0062t0015 a0030c0061t0015	a0019c0059t0016g0276 a0023c0045t0016g0002 a0024c0062t0015g0376 others(1): Show a0019c0059t0016g0276 a0023c0045t0016g0002 a0024c0062t0015g0376 a0030c0061t0015g0291	4	429	0.0093	49	c.305 others(68): Show c.3050+1530_3050+1531insAACCCCGCCACCTCCCTCCCGGACTG GGTGGCTGGCCGGGCGGGGGGCT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993412	C C	CTCTCCCC others(42): Show CTCTCCCCCCTCTCCCCCCTCTCTCCCCCTCTCTCCCCCTCTCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0028 a0028	a0028c0059 a0028c0059	a0028c0059t0035 a0028c0059t0035	a0028c0059t0035g0015 a0028c0059t0035g0015	1	350	0.0029	49	c.54 others(60): Show c.5499_*5500insTCTCCCCCCTCTCCCCCCTCTCTCCCCCTCTCTC CCCCTCTCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4784		chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(42): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	413	0.0024	49	c.48 others(60): Show c.4818_*4819insAAAAAAAAAATATATATATATATATATATATATA TATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NOC2L_chr1_939203_964256	939436	C C	CCCCCTCA others(42): Show CCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	422	0.0024	49	c.52 others(60): Show c.5209_*5257dupAGATCATGCCAGGGTGGGTCCTCACCGTGGCTGG GGAGGTGATGAGGGG	NOC2L	ENSG00000188976.11	transcript	ENST00000327044.7	protein_coding		4766		chr1	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(42): Show TCACACCACACCCCTAATCCCCTCGGTGAGTACCGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0053 a0001c0004t0001g0053	1	294	0.0034	49	c.902 others(64): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTACCGCC GCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(42): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18970.hp1 NA18983.hp2 NA18966.hp2 NA18970.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0265 a0001c0003t0001g0135 a0001c0001t0001g0033 a0001c0001t0001g0265 a0001c0003t0001g0135	3	294	0.0102	49	c.902 others(64): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(42): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	294	0.0034	49	c.902 others(64): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(42): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG02004.hp2 others(2): Show HG00609.hp1 HG00673.hp2 HG02004.hp2 NA19009.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0001t0001 a0001c0003t0001 a0001c0006t0001	a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0003t0001g0147 others(2): Show a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0003t0001g0147 a0001c0003t0001g0169 a0001c0006t0001g0124	5	294	0.0170	49	c.902 others(64): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(42): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	294	0.0034	49	c.902 others(64): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCATACCA others(42): Show TCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCCAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0232 a0006c0012t0001g0232	1	294	0.0034	49	c.902 others(64): Show c.902-964_902-963insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCCCACCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCATACCA others(42): Show TCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	294	0.0034	49	c.902 others(64): Show c.902-964_902-963insTACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCCTACCA others(42): Show TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02818.hp1 HG03540.hp1 others(2): Show HG02273.hp2 HG02818.hp1 HG03540.hp1 NA19056.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0008 a0001c0001 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0007t0001 a0004c0008t0001 a0001c0001t0001 a0001c0007t0001 a0004c0008t0001	a0001c0001t0001g0190 a0001c0001t0001g0209 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0190 a0001c0001t0001g0209 a0001c0001t0001g0250 a0001c0007t0001g0195 a0004c0008t0001g0164	5	294	0.0170	49	c.902 others(64): Show c.902-965_902-964insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOL4L_chr20_32438059_32590333	32488803	C C	CCTTTCTT others(42): Show CCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0061 a0001c0003t0009g0061	1	196	0.0051	49	c.700 others(68): Show c.700-14062_700-14061insAGAAGAAAGAAGAAGAAAGAAAGAAA GAAAGAAAAGAAAAGAAAGAAAG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	337	0.0030	49	c.180 others(66): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATATATATATATTTTTTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAG others(42): Show AGAGAGAGAGAGAGAGAAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp1 HG02280.hp2 others(3): Show HG01106.hp1 HG01261.hp1 HG02280.hp2 HG02698.hp1 HG03041.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 a0001c0002t0025 a0002c0006t0008	a0001c0001t0001g0055 a0001c0001t0001g0144 a0001c0001t0002g0077 others(3): Show a0001c0001t0001g0055 a0001c0001t0001g0144 a0001c0001t0002g0077 a0001c0001t0030g0034 a0001c0002t0025g0016 a0002c0006t0008g0095	6	182	0.0330	49	c.178 others(68): Show c.178-25798_178-25797insAGAGAGAGAAGAGAGGAGAGAGAGAG AGAAGAGAGAAGAGAGGAGAGAG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117322236	C C	CTCCCTCC others(42): Show CTCCCTCCTTCCTTCCCTCCCTCCTTTCCCTTCCTCTTTCCTTTCTTCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01069.hp1 others(34): Show HG00558.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp1 HG02622.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03139.hp2 HG04199.hp1 NA18747.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19074.hp1 NA19088.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0007c0018	a0001c0001t0025 a0001c0001t0032 a0001c0001t0061 others(24): Show a0001c0001t0025 a0001c0001t0032 a0001c0001t0061 a0001c0001t0102 a0001c0001t0123 a0001c0001t0128 a0001c0001t0175 a0001c0002t0158 a0001c0003t0001 a0001c0003t0152 a0001c0003t0156 a0001c0003t0162 a0001c0004t0005 a0001c0004t0034 a0001c0004t0133 a0001c0004t0134 a0001c0004t0135 a0001c0004t0136 a0001c0004t0138 a0001c0005t0003 a0001c0005t0010 a0001c0005t0028 a0001c0005t0030 a0001c0005t0085 a0001c0010t0088 a0001c0010t0089 a0007c0018t0003	a0001c0001t0025g0256 a0001c0001t0032g0095 a0001c0001t0061g0153 others(34): Show a0001c0001t0025g0256 a0001c0001t0032g0095 a0001c0001t0061g0153 a0001c0001t0102g0284 a0001c0001t0123g0170 a0001c0001t0128g0218 a0001c0001t0175g0283 a0001c0002t0158g0205 a0001c0003t0001g0272 a0001c0003t0152g0249 a0001c0003t0156g0202 a0001c0003t0162g0247 a0001c0004t0005g0232 a0001c0004t0005g0248 a0001c0004t0005g0262 a0001c0004t0005g0263 a0001c0004t0005g0264 a0001c0004t0034g0266 a0001c0004t0034g0267 a0001c0004t0133g0277 a0001c0004t0134g0212 a0001c0004t0135g0235 a0001c0004t0136g0204 a0001c0004t0138g0223 a0001c0005t0003g0081 a0001c0005t0003g0135 a0001c0005t0003g0151 a0001c0005t0003g0155 a0001c0005t0010g0134 a0001c0005t0028g0090 a0001c0005t0028g0121 a0001c0005t0030g0115 a0001c0005t0030g0143 a0001c0005t0085g0128 a0001c0010t0088g0171 a0001c0010t0089g0288 a0007c0018t0003g0133	37	294	0.1259	49	c.725 others(66): Show c.725+8060_725+8108dupAGGAAGAAAGGAAAGAGGAAGGGAAAGG AGGGAGGGAAGGAAGGAGGGA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	2/28			chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(42): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp1 HG01167.hp2 others(7): Show HG00423.hp1 HG01074.hp1 HG01167.hp2 HG01361.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp2 NA18943.hp2 NA18966.hp1 NA18982.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0007 others(5): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0060 a0001c0069 a0004c0065	a0001c0001t0003 a0001c0001t0004 a0001c0004t0006 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0004t0006 a0001c0007t0005 a0001c0008t0002 a0001c0011t0002 a0001c0060t0011 a0001c0069t0004 a0004c0065t0005	a0001c0001t0003g0003 a0001c0001t0004g0174 a0001c0004t0006g0147 others(6): Show a0001c0001t0003g0003 a0001c0001t0004g0174 a0001c0004t0006g0147 a0001c0007t0005g0062 a0001c0008t0002g0121 a0001c0011t0002g0073 a0001c0060t0011g0120 a0001c0069t0004g0112 a0004c0065t0005g0110	10	324	0.0309	49	c.140 others(66): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCCCGAC CCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(42): Show AGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTCGG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0005 a0001c0062t0005	a0001c0062t0005g0116 a0001c0062t0005g0116	1	324	0.0031	49	c.140 others(66): Show c.140+8240_140+8241insCCGACCCACCCTGCACCCATTGCCCCAG GAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535891	A A	AGGGGGGA others(42): Show AGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	324	0.0031	49	c.140 others(66): Show c.140+8132_140+8133insCACCCACCATGCACCCATTGCCCCAGGA GGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535983	T T	TGGTGGGT others(42): Show TGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0113 a0001c0012t0002g0113	1	324	0.0031	49	c.140 others(66): Show c.140+8040_140+8041insCTGCACCCATTGCCCCAGGAGGGATCCT GAGTGCTCCCCCCCACCCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTUM_chr17_81947507_81966187	81952445	A A	AGAGGAGG others(42): Show AGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	384	0.0026	49	c.51 others(58): Show c.515_*516insCCTCCCCTCCTCCTCTCCCTCCCCTCCTCCTCTCCC TCCCCTCCTCCTC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		61		chr17	TogoVar
NOVA1_chr14_26438090_26603033	26527089	A A	ACTGTTTA others(42): Show ACTGTTTAAAACTGTGCATGGAAAAGAGAACTCTGCTCACTAGGTGAAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp2 others(80): Show HG00099.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG01257.hp1 HG01261.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp1 NA19000.hp2 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030	a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 others(80): Show a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0033 a0001c0001t0003g0040 a0001c0001t0003g0055 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0108 a0001c0001t0004g0125 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0227 a0001c0001t0006g0021 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0032 a0001c0001t0006g0037 a0001c0001t0007g0199 a0001c0001t0007g0201 a0001c0001t0007g0202 a0001c0001t0007g0203 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0009g0022 a0001c0001t0009g0026 a0001c0001t0009g0028 a0001c0001t0009g0031 a0001c0001t0009g0039 a0001c0001t0010g0198 a0001c0001t0010g0200 a0001c0001t0010g0210 a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0012g0057 a0001c0001t0012g0058 a0001c0001t0014g0010 a0001c0001t0014g0038 a0001c0001t0015g0191 a0001c0001t0018g0001 a0001c0001t0021g0023 a0001c0001t0024g0114 a0001c0001t0026g0094 a0001c0001t0030g0110	83	244	0.3402	49	c.281 others(68): Show c.281-46995_281-46947dupACTTCACCTAGTGAGCAGAGTTCTCT TTTCCATGCACAGTTTTAAACAG	NOVA1	ENSG00000139910.20	transcript	ENST00000539517.7	protein_coding	2/4			chr14	TogoVar
NOX1_chrX_100838324_100879359	100853294	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	302	0.0033	49	c.805 others(66): Show c.805-1970_805-1969insAGAAAGAAAGAAAGAAAGAAAGAGAAAG AGAGAGAAAGAAAGAAAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NPAS1_chr19_47014837_47050775	47049884	G G	GTGGCTAT others(42): Show GTGGCTATCGTTAACCCTGGTGCGATTCTCTTCTCTTCTTTTTTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	418	0.0024	49	c.42 others(60): Show c.4233_*4234insTGGCTATCGTTAACCCTGGTGCGATTCTCTTCTC TTCTTTTTTTTGTTT	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding		4110		chr19	TogoVar
NPAS2_chr2_100815139_101001829	100932597	A A	ACCTAATT others(42): Show ACCTAATTCCAACTGTTGACGATGGAGTTCGTCATGTAGACATTCAGGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp2 HG02572.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0001 a0001c0016t0002 a0001c0002t0001 a0001c0016t0002	a0001c0002t0001g0178 a0001c0016t0002g0124 a0001c0002t0001g0178 a0001c0016t0002g0124	2	288	0.0069	49	c.182 others(64): Show c.182-311_182-263dupCTAATTCCAACTGTTGACGATGGAGTTCGT CATGTAGACATTCAGGGCC	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
NPBWR2_chr20_64098802_64112565	64104778	C C	CAGGGGAG others(42): Show CAGGGGAGCACAGGCCATGGAGAGGACCGTCGGCCACAGCAGGGGAGTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG03688.hp1 NA20905.hp2 HG02735.hp1 HG03688.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0077 a0001c0002t0015 a0001c0002t0052 a0001c0001t0077 a0001c0002t0015 a0001c0002t0052	a0001c0001t0077g0110 a0001c0002t0015g0014 a0001c0002t0052g0056 a0001c0001t0077g0110 a0001c0002t0015g0014 a0001c0002t0052g0056	3	355	0.0085	49	c.10 others(60): Show c.1051_*1052insATACTCCCCTGCTGTGGCCGACGGTCCTCTCCAT GGCCTGTGCTCCCCT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	1051		chr20	TogoVar
NPHP4_chr1_5857811_5997425	5884448	G G	GACAACCA others(42): Show GACAACCAAGATCACTGCCCAAGCTCCCAGCCGAGCCCCCGTCCTACTCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG03098.hp2 HG02647.hp1 HG02896.hp1 HG03098.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136	3	208	0.0144	49	c.248 others(68): Show c.2485+2789_2485+2837dupGGAGTAGGACGGGGGCTCGGCTGGGA GCTTGGGCAGTGATCTTGGTTGT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5988744	G G	GCCTTGGC others(42): Show GCCTTGGCCCAGGGTCCCGCCTCCACCCACAGTGCACCCAGACGCTGCAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show HG03041.hp2 HG03130.hp1 NA18522.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(2): Show a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142	5	208	0.0240	49	c.-38 others(66): Show c.-38-2466_-38-2418dupATGCAGCGTCTGGGTGCACTGTGGGTGG AGGCGGGACCCTGGGCCAAGG	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	1/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5988805	G G	GGTCCCGC others(42): Show GGTCCCGCCTCCACCCACAGTGCACCCAGACGCTGCATCCTTGGCCCAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0005 a0014c0022t0005	a0014c0022t0005g0207 a0014c0022t0005g0207	1	208	0.0048	49	c.-38 others(66): Show c.-38-2479_-38-2478insTCTGGGCCAAGGATGCAGCGTCTGGGTG CACTGTGGGTGGAGGCGGGAC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	1/29			chr1	TogoVar
NPIPB15_chr16_74371306_74397115	74377817	C C	CCCCCTCC others(42): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0006 a0007c0006t0006	a0007c0006t0006g0068 a0007c0006t0006g0068	1	261	0.0038	49	c.-22 others(63): Show c.-22-130_-22-82dupTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCC	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NR2E1_chr6_108161022_108193805	108193678	A A	AACAACAA others(42): Show AACAACAACAACGGAGGAGGAGGAAAAGAGAGAGATACACTAGATCGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	392	0.0026	49	c.62 others(60): Show c.6215_*6216insACAACAACAACGGAGGAGGAGGAAAAGAGAGAGA TACACTAGATCGCGT	NR2E1	ENSG00000112333.12	transcript	ENST00000368986.9	protein_coding		4874		chr6	TogoVar
NRIP1_chr21_14956235_15070000	15031239	G G	GCACGGAG others(42): Show GCACGGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19007.hp2 NA19068.hp2 others(1): Show HG01255.hp1 NA19007.hp2 NA19068.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0012 a0002c0003t0003 a0001c0001t0012 a0002c0003t0003	a0001c0001t0012g0078 a0001c0001t0012g0108 a0001c0001t0012g0112 others(1): Show a0001c0001t0012g0078 a0001c0001t0012g0108 a0001c0001t0012g0112 a0002c0003t0003g0109	4	398	0.0101	49	c.-45 others(70): Show c.-458+12255_-458+12256insGCCTTCCAGAGTGTACACACATAG AAAGGGAATGTGGTGATCCTCCGTG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031899	T T	TCACCACA others(42): Show TCACCACATTCCCTTTCTATGTGTATACACTCTGAAAGGTGCTCAAAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG02055.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0206 a0001c0001t0036g0207 a0001c0001t0001g0206 a0001c0001t0036g0207	2	398	0.0050	49	c.-45 others(70): Show c.-458+11547_-458+11595dupTCCTTTGAGCACCTTTCAGAGTGT ATACACATAGAAAGGGAATGTGGTG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP3_chr11_8975576_9009001	8978803	G G	GCCCCGTC others(42): Show GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0151 a0001c0001t0044g0151	1	406	0.0025	49	c.47 others(60): Show c.4741_*4742insTGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGG	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1772		chr11	TogoVar
NRSN1_chr6_24121215_24152530	24150886	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	406	0.0025	49	c.49 others(60): Show c.4940_*4941insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3357		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50334190	C C	CACATTTT others(42): Show CACATTTTATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 NA19030.hp1 others(1): Show HG02559.hp2 HG03139.hp2 NA19030.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0016 a0001c0002t0005 a0001c0001t0013 a0001c0001t0016 a0001c0002t0005	a0001c0001t0013g0081 a0001c0001t0016g0021 a0001c0002t0005g0077 others(1): Show a0001c0001t0013g0081 a0001c0001t0016g0021 a0001c0002t0005g0077 a0001c0002t0005g0083	4	116	0.0345	49	c.336 others(70): Show c.3365-97221_3365-97220insATATATATATATATATATATATAT ATATATATATATATATATAAAATGT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar

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