Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NDUFS5_chr1_39021350_39039615	39024902	TTATATAT others(11): Show TTATATATATATATATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG01346.hp2 others(13): Show HG00733.hp2 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG02257.hp2 HG02818.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp1 HG03579.hp2 HG03834.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0118 a0001c0001t0001g0121	16	438	0.0365	-18	c.-15 others(29): Show c.-1502_-1485delTATATATATATATATTTA		NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding					1447		chr1	TogoVar
NDUFS5_chr1_39021350_39039615	39025335	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01168.hp2 HG01433.hp1 others(18): Show HG00323.hp1 HG01168.hp2 HG01433.hp1 HG02071.hp1 HG02083.hp2 HG02145.hp2 HG03225.hp2 HG03471.hp2 HG04115.hp1 NA18956.hp1 NA18959.hp2 NA18964.hp1 NA18967.hp2 NA18988.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp2 NA19072.hp2 NA19083.hp2 NA19088.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0110	21	438	0.0480	-18	c.-10 others(29): Show c.-1069_-1052delTTTTTTTTTTTTTTTTTT		NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding					1014		chr1	TogoVar
NEBL_chr10_20774973_20902311	20882339	AAAAGGAA others(11): Show AAAAGGAAAAGGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01081.hp1 others(20): Show HG00621.hp1 HG01069.hp1 HG01081.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp2 HG02015.hp2 HG02056.hp2 HG02698.hp1 HG02735.hp2 HG03704.hp2 HG04199.hp2 NA18947.hp2 NA18952.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18998.hp2 NA19003.hp2 NA19005.hp2 NA19062.hp2 NA19082.hp1 NA19088.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0010	a0002c0002 a0003c0004 a0005c0007 others(1): Show a0002c0002 a0003c0004 a0005c0007 a0010c0020	a0002c0002t0003 a0003c0004t0001 a0003c0004t0006 others(4): Show a0002c0002t0003 a0003c0004t0001 a0003c0004t0006 a0003c0004t0025 a0005c0007t0001 a0005c0007t0012 a0010c0020t0027	a0002c0002t0003g0296 a0003c0004t0001g0300 a0003c0004t0001g0301 others(19): Show a0002c0002t0003g0296 a0003c0004t0001g0300 a0003c0004t0001g0301 a0003c0004t0006g0005 a0003c0004t0006g0295 a0003c0004t0006g0297 a0003c0004t0006g0298 a0003c0004t0006g0302 a0003c0004t0006g0303 a0003c0004t0006g0304 a0003c0004t0025g0299 a0005c0007t0001g0009 a0005c0007t0001g0069 a0005c0007t0001g0099 a0005c0007t0001g0141 a0005c0007t0012g0026 a0005c0007t0012g0043 a0005c0007t0012g0044 a0005c0007t0012g0045 a0005c0007t0012g0046 a0005c0007t0012g0070 a0010c0020t0027g0169	23	338	0.0681	-18	c.370 others(35): Show c.370-1453_370-1436delCCCTTCCCCTTTTCCTTT		NEBL	ENSG00000078114.19	transcript	ENST00000377122.9	protein_coding	4/27						chr10	TogoVar
NEBL_chr10_20774973_20902311	20896483	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp1 others(94): Show HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01106.hp1 HG01168.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01934.hp1 HG01978.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03579.hp1 HG03927.hp2 HG03942.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18984.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp2 NA19006.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19077.hp1 NA19083.hp2 NA19085.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0008 a0009 a0014 a0015	a0001c0001 a0001c0006 a0001c0015 others(6): Show a0001c0001 a0001c0006 a0001c0015 a0002c0002 a0003c0004 a0008c0010 a0009c0012 a0014c0017 a0015c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0036 a0001c0001t0039 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0006t0008 a0001c0015t0002 a0002c0002t0004 a0002c0002t0011 a0002c0002t0028 a0003c0004t0003 a0003c0004t0006 a0008c0010t0006 a0009c0012t0041 a0014c0017t0031 a0015c0019t0001	a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 others(91): Show a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0245 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0003 a0001c0001t0002g0174 a0001c0001t0002g0206 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0003g0252 a0001c0001t0005g0220 a0001c0001t0016g0235 a0001c0001t0017g0279 a0001c0001t0017g0289 a0001c0001t0018g0281 a0001c0001t0018g0292 a0001c0001t0018g0294 a0001c0001t0019g0218 a0001c0001t0019g0239 a0001c0001t0019g0273 a0001c0001t0023g0208 a0001c0001t0023g0226 a0001c0001t0024g0229 a0001c0001t0029g0280 a0001c0001t0036g0293 a0001c0001t0039g0278 a0001c0001t0044g0210 a0001c0001t0046g0225 a0001c0001t0047g0246 a0001c0006t0008g0282 a0001c0015t0002g0243 a0002c0002t0004g0222 a0002c0002t0004g0257 a0002c0002t0004g0258 a0002c0002t0004g0259 a0002c0002t0004g0260 a0002c0002t0004g0261 a0002c0002t0004g0262 a0002c0002t0004g0286 a0002c0002t0004g0287 a0002c0002t0004g0288 a0002c0002t0004g0290 a0002c0002t0011g0285 a0002c0002t0011g0291 a0002c0002t0028g0263 a0003c0004t0003g0004 a0003c0004t0003g0254 a0003c0004t0006g0212 a0003c0004t0006g0213 a0003c0004t0006g0216 a0003c0004t0006g0270 a0008c0010t0006g0002 a0009c0012t0041g0211 a0014c0017t0031g0232 a0015c0019t0001g0237	97	338	0.2870	-18	c.153 others(33): Show c.153+457_153+474delATATATATATATATATAT		NEBL	ENSG00000078114.19	transcript	ENST00000377122.9	protein_coding	2/27						chr10	TogoVar
NEB_chr2_151480339_151739476	151620343	GTGTGTAT others(11): Show GTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0040 a0040	a0040c0146 a0040c0146	a0040c0146t0001 a0040c0146t0001	a0040c0146t0001g0103 a0040c0146t0001g0103	1	188	0.0053	-18	c.105 others(37): Show c.10560+558_10560+575delTATATATATATATACACA		NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	72/181						chr2	TogoVar
NECAB1_chr8_90786775_90964393	90813230	TATATACA others(11): Show TATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02647.hp1 others(1): Show HG02559.hp2 HG02622.hp2 HG02647.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0028 a0001c0001t0044 a0001c0001t0019 a0001c0001t0028 a0001c0001t0044	a0001c0001t0019g0127 a0001c0001t0028g0126 a0001c0001t0028g0128 others(1): Show a0001c0001t0019g0127 a0001c0001t0028g0126 a0001c0001t0028g0128 a0001c0001t0044g0125	4	248	0.0161	-18	c.125 others(37): Show c.125-11485_125-11468delTATACACACACACACACA		NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB2_chr16_83963244_84007776	83968057	TGTTCTGG others(11): Show TGTTCTGGGGTGAAGACTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03209.hp1 HG03471.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0017 a0004c0013t0017	a0004c0013t0017g0218 a0004c0013t0017g0219 a0004c0013t0017g0218 a0004c0013t0017g0219	2	354	0.0057	-18	c.-59 others(27): Show c.-591_-574delGTTCTGGGGTGAAGACTG		NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding					186		chr16	TogoVar
NECAB2_chr16_83963244_84007776	83993620	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0046 a0004c0005t0046	a0004c0005t0046g0273 a0004c0005t0046g0273	1	354	0.0028	-18	c.597 others(33): Show c.597-650_597-633delGTGTGTGTGTGTGTGTGT		NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
NECAB2_chr16_83963244_84007776	83999859	CTTTGATT others(11): Show CTTTGATTTTTAAAGGTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19030.hp1 HG02965.hp2 NA19030.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0194 a0008c0014t0003g0320 a0008c0014t0003g0194 a0008c0014t0003g0320	2	354	0.0057	-18	c.963 others(33): Show c.963-841_963-824delTTTTTAAAGGTTTTTTGA		NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
NECAB2_chr16_83963244_84007776	84000829	GAGGGAGA others(11): Show GAGGGAGACAGAGGGAAGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01123.hp2 HG01257.hp2 others(26): Show HG00423.hp1 HG01123.hp2 HG01257.hp2 HG01258.hp1 HG01891.hp2 HG01975.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG03017.hp2 HG03471.hp2 NA18747.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18961.hp1 NA18970.hp2 NA18984.hp1 NA19004.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19083.hp1 NA20752.hp1 NA20805.hp1	a0002 a0003 a0010 others(2): Show a0002 a0003 a0010 a0015 a0016	a0002c0002 a0002c0003 a0003c0004 others(5): Show a0002c0002 a0002c0003 a0003c0004 a0003c0015 a0003c0028 a0010c0023 a0015c0032 a0016c0022	a0002c0002t0008 a0002c0002t0013 a0002c0002t0029 others(11): Show a0002c0002t0008 a0002c0002t0013 a0002c0002t0029 a0002c0003t0003 a0002c0003t0004 a0002c0003t0008 a0002c0003t0036 a0002c0003t0044 a0003c0004t0037 a0003c0015t0018 a0003c0028t0034 a0010c0023t0010 a0015c0032t0008 a0016c0022t0035	a0002c0002t0008g0016 a0002c0002t0008g0031 a0002c0002t0008g0062 others(26): Show a0002c0002t0008g0016 a0002c0002t0008g0031 a0002c0002t0008g0062 a0002c0002t0008g0069 a0002c0002t0008g0093 a0002c0002t0008g0135 a0002c0002t0008g0341 a0002c0002t0013g0104 a0002c0002t0013g0118 a0002c0002t0013g0340 a0002c0002t0029g0029 a0002c0003t0003g0007 a0002c0003t0003g0304 a0002c0003t0003g0306 a0002c0003t0003g0307 a0002c0003t0003g0319 a0002c0003t0003g0335 a0002c0003t0004g0267 a0002c0003t0008g0027 a0002c0003t0036g0007 a0002c0003t0044g0309 a0003c0004t0037g0313 a0003c0015t0018g0203 a0003c0015t0018g0204 a0003c0015t0018g0205 a0003c0028t0034g0289 a0010c0023t0010g0321 a0015c0032t0008g0125 a0016c0022t0035g0305	29	354	0.0819	-18	c.104 others(33): Show c.1040+29_1040+46delAGGGAGACAGAGGGAAGT		NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	11/12						chr16	TogoVar
NECAB3_chr20_33652087_33679428	33663406	TGACAGGA others(11): Show TGACAGGACCCGGGTGGAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp2 HG02145.hp2 others(12): Show HG01261.hp2 HG01884.hp2 HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0014 a0001c0015 others(2): Show a0001c0001 a0001c0014 a0001c0015 a0007c0016 a0009c0007	a0001c0001t0002 a0001c0014t0014 a0001c0015t0002 others(2): Show a0001c0001t0002 a0001c0014t0014 a0001c0015t0002 a0007c0016t0006 a0009c0007t0006	a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0071 others(5): Show a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0014t0014g0111 a0001c0015t0002g0076 a0007c0016t0006g0109 a0009c0007t0006g0110	15	368	0.0408	-18	c.388 others(35): Show c.388-3029_388-3012delGTCCACCCGGGTCCTGTC		NECAB3	ENSG00000125967.17	transcript	ENST00000246190.11	protein_coding	5/11						chr20	TogoVar
NECAP1_chr12_8077274_8102881	8082774	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00639.hp1 others(64): Show HG00099.hp1 HG00280.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG02040.hp1 HG02135.hp2 HG02258.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18945.hp2 NA18963.hp2 NA19043.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0002g0020 a0001c0001t0002g0083 a0001c0001t0002g0102 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0005g0023 a0001c0001t0007g0101	67	436	0.1537	-18	c.95+ others(31): Show c.95+417_95+434delACACACACACACACACAC		NECAP1	ENSG00000089818.18	transcript	ENST00000339754.11	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96929556	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	400	0.0025	-18	c.490 others(35): Show c.490-5392_490-5375delCACACACACACACACACA		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96930156	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01099.hp2 others(26): Show HG00408.hp2 HG00738.hp2 HG01099.hp2 HG01175.hp1 HG02015.hp2 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02486.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG03017.hp2 HG03579.hp2 HG03669.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18944.hp2 NA18955.hp1 NA18965.hp2 NA18993.hp2 NA19001.hp1 NA19065.hp1 NA19070.hp2 NA19086.hp2 NA20752.hp1 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0006c0007t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0216 others(25): Show a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0246 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0374 a0001c0001t0002g0022 a0001c0001t0002g0125 a0001c0001t0003g0004 a0001c0001t0003g0325 a0001c0001t0013g0057 a0006c0007t0001g0258	29	400	0.0725	-18	c.490 others(35): Show c.490-4781_490-4764delACACACACACACACACAC		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96930197	ACACACAC others(11): Show ACACACACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	400	0.0025	-18	c.490 others(35): Show c.490-4777_490-4760delACACACACACACACTCTC		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4_chr15_55821922_55998612	55839973	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	344	0.0029	-18	c.203 others(35): Show c.2031+456_2031+473delTTTTTTTTTTTTTTTTTT		NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28						chr15	TogoVar
NEDD4_chr15_55821922_55998612	55839999	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0307 a0001c0003t0007g0307	1	344	0.0029	-18	c.203 others(35): Show c.2031+430_2031+447delATATATATATATATATAT		NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28						chr15	TogoVar
NEDD4_chr15_55821922_55998612	55940529	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0063 a0001c0001t0015g0063	1	344	0.0029	-18	c.237 others(37): Show c.237+10829_237+10846delGCAGAGAGAGAGAGAGAG		NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	4/28						chr15	TogoVar
NEDD9_chr6_11178298_11237668	11199637	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01069.hp1 HG01071.hp2 others(29): Show HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01346.hp2 HG01496.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02523.hp2 HG03704.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18951.hp2 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18983.hp1 NA18984.hp2 NA19000.hp1 NA19005.hp2 NA19006.hp1 NA19012.hp1 NA19066.hp2 NA19076.hp2 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0023	a0001c0001t0001 a0001c0001t0024 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0024 a0001c0003t0001 a0001c0004t0002 a0001c0023t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0018 others(23): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0359 a0001c0001t0024g0037 a0001c0003t0001g0250 a0001c0004t0002g0121 a0001c0004t0002g0252 a0001c0023t0001g0152	32	398	0.0804	-18	c.460 others(35): Show c.460-5963_460-5946delAAAAAAAAAAAAAAAAAA		NEDD9	ENSG00000111859.17	transcript	ENST00000379446.10	protein_coding	2/6						chr6	TogoVar
NEFH_chr22_29475218_29496390	29486448	GAAACCGT others(11): Show GAAACCGTCATTATCATTC	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0171 a0003c0003t0002g0171	1	448	0.0022	-18	c.120 others(35): Show c.1208+602_1208+619delAAACCGTCATTATCATTC		NEFH	ENSG00000100285.10	transcript	ENST00000310624.7	protein_coding	3/3						chr22	TogoVar
NEFH_chr22_29475218_29496390	29489788	AAAGTCCC others(11): Show AAAGTCCCCTGAGAAGGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA20300.hp2 NA20300.hp2	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0002 a0017c0026t0002	a0017c0026t0002g0128 a0017c0026t0002g0128	1	448	0.0022	-18	c.215 others(27): Show c.2157_2174delTGAGAAGGCCAAGTCCCC	p.Glu others(13): Show p.Glu720_Pro725del	NEFH	ENSG00000100285.10	transcript	ENST00000310624.7	protein_coding	4/4	2202/3795	2157/3063	719/1020		INFO_REALIGN_3_PRIME	chr22	TogoVar
NEFH_chr22_29475218_29496390	29489869	AGCTAAGT others(11): Show AGCTAAGTCCCCAGAGAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00544.hp1 HG00558.hp2 others(23): Show HG00423.hp2 HG00544.hp1 HG00558.hp2 HG01981.hp2 HG02080.hp2 HG02132.hp1 HG02523.hp1 NA18940.hp2 NA18942.hp2 NA18950.hp2 NA18963.hp2 NA18964.hp1 NA18973.hp2 NA18985.hp1 NA18987.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19054.hp2 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0006 a0004c0004t0001g0026 others(6): Show a0004c0004t0001g0004 a0004c0004t0001g0006 a0004c0004t0001g0026 a0004c0004t0001g0045 a0004c0004t0001g0046 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0099	26	448	0.0580	-18	c.223 others(27): Show c.2232_2249delTAAGTCCCCAGAGAAGGC	p.Lys others(13): Show p.Lys745_Ala750del	NEFH	ENSG00000100285.10	transcript	ENST00000310624.7	protein_coding	4/4	2277/3795	2232/3063	744/1020		INFO_REALIGN_3_PRIME	chr22	TogoVar
NEGR1_chr1_71390943_72287539	71560431	ATATATAT others(11): Show ATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19043.hp1 HG02559.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0003t0024 a0001c0001t0022 a0001c0003t0024	a0001c0001t0022g0032 a0001c0003t0024g0021 a0001c0001t0022g0032 a0001c0003t0024g0021	2	64	0.0313	-18	c.940 others(37): Show c.940+32368_940+32385delCATATATATATATATATA		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	6/6						chr1	TogoVar
NEGR1_chr1_71390943_72287539	71609514	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01884.hp1 NA20129.hp2 others(1): Show HG01515.hp1 HG01884.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0002g0009 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0002g0009 a0001c0001t0002g0035	4	64	0.0625	-18	c.788 others(35): Show c.788+1494_788+1511delTTTTTTTTTTTTTTTTTT		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6						chr1	TogoVar
NEGR1_chr1_71390943_72287539	71898873	ATATTGCA others(11): Show ATATTGCAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp1 NA20300.hp2 HG02970.hp1 HG03041.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0002t0010 a0001c0006t0009 a0001c0002t0002 a0001c0002t0010 a0001c0006t0009	a0001c0002t0002g0053 a0001c0002t0010g0005 a0001c0006t0009g0023 a0001c0002t0002g0053 a0001c0002t0010g0005 a0001c0006t0009g0023	3	64	0.0469	-18	c.409 others(37): Show c.409+36188_409+36205delATATATATATTTGCAATA		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6						chr1	TogoVar
NEGR1_chr1_71390943_72287539	71898874	TATTGCAA others(11): Show TATTGCAAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03453.hp1 NA19240.hp1 HG02896.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0011 a0001c0002t0014 a0001c0001t0003 a0001c0001t0011 a0001c0002t0014	a0001c0001t0003g0002 a0001c0001t0011g0031 a0001c0002t0014g0057 a0001c0001t0003g0002 a0001c0001t0011g0031 a0001c0002t0014g0057	3	64	0.0469	-18	c.409 others(37): Show c.409+36187_409+36204delTATATATATATTTGCAAT		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6						chr1	TogoVar
NEGR1_chr1_71390943_72287539	71999662	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	64	0.0156	-18	c.177 others(37): Show c.177-64369_177-64352delGTATATATATATATATAT		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6						chr1	TogoVar
NEGR1_chr1_71390943_72287539	72022260	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03041.hp2 HG02559.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0051 a0001c0001t0022g0032 a0001c0001t0006g0051 a0001c0001t0022g0032	2	64	0.0313	-18	c.177 others(37): Show c.177-86967_177-86950delATATATATATATATATAT		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6						chr1	TogoVar
NEGR1_chr1_71390943_72287539	72048373	TTAACAGT others(11): Show TTAACAGTACATCATTAGA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	64	0.0156	-18	c.177 others(39): Show c.177-113080_177-113063delTCTAATGATGTACTGTTA		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6						chr1	TogoVar
NEIL2_chr8_11764710_11792345	11765270	CAAAGAGC others(11): Show CAAAGAGCATTGTTCCTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02145.hp2 others(12): Show HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02451.hp2 HG02559.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18906.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0001c0018 a0003c0006 others(1): Show a0001c0002 a0001c0018 a0003c0006 a0007c0009	a0001c0002t0014 a0001c0002t0031 a0001c0002t0052 others(5): Show a0001c0002t0014 a0001c0002t0031 a0001c0002t0052 a0001c0002t0060 a0001c0002t0063 a0001c0018t0031 a0003c0006t0012 a0007c0009t0033	a0001c0002t0014g0027 a0001c0002t0014g0088 a0001c0002t0014g0089 others(7): Show a0001c0002t0014g0027 a0001c0002t0014g0088 a0001c0002t0014g0089 a0001c0002t0031g0026 a0001c0002t0052g0026 a0001c0002t0060g0091 a0001c0002t0063g0093 a0001c0018t0031g0026 a0003c0006t0012g0022 a0007c0009t0033g0092	15	446	0.0336	-18	c.-50 others(29): Show c.-5067_-5050delAAAGAGCATTGTTCCTCA		NEIL2	ENSG00000154328.16	transcript	ENST00000284503.7	protein_coding					4439		chr8	TogoVar
NEIL3_chr4_177304874_177367936	177320466	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0357 a0003c0007t0001g0357	1	408	0.0025	-18	c.157 others(35): Show c.157-1981_157-1964delTTTTTTTTTTTTTTTTTT		NEIL3	ENSG00000109674.4	transcript	ENST00000264596.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
NEK10_chr3_27101484_27374383	27156929	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG03471.hp2 HG01243.hp2 HG02723.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0060 a0001c0002t0010g0061 a0001c0002t0010g0063 a0001c0002t0010g0060 a0001c0002t0010g0061 a0001c0002t0010g0063	3	234	0.0128	-18	c.286 others(37): Show c.2869+5754_2869+5771delATATATATATATATATAT		NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	30/35						chr3	TogoVar
NEK10_chr3_27101484_27374383	27364348	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG01884.hp2 others(16): Show HG01243.hp2 HG01433.hp2 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0012 a0013	a0001c0002 a0001c0024 a0003c0004 others(3): Show a0001c0002 a0001c0024 a0003c0004 a0004c0005 a0012c0015 a0013c0022	a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 others(8): Show a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0038 a0001c0024t0004 a0003c0004t0006 a0003c0004t0009 a0003c0004t0055 a0004c0005t0024 a0012c0015t0004 a0013c0022t0009	a0001c0002t0004g0092 a0001c0002t0008g0058 a0001c0002t0008g0059 others(16): Show a0001c0002t0004g0092 a0001c0002t0008g0058 a0001c0002t0008g0059 a0001c0002t0010g0060 a0001c0002t0010g0061 a0001c0002t0010g0062 a0001c0002t0010g0063 a0001c0002t0038g0057 a0001c0024t0004g0093 a0003c0004t0006g0071 a0003c0004t0009g0230 a0003c0004t0009g0232 a0003c0004t0009g0233 a0003c0004t0009g0234 a0003c0004t0055g0227 a0004c0005t0024g0228 a0004c0005t0024g0229 a0012c0015t0004g0091 a0013c0022t0009g0231	19	234	0.0812	-18	c.-38 others(35): Show c.-38+4859_-38+4876delCACACACACACACACACA		NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	1/35						chr3	TogoVar
NEK11_chr3_131021877_131355465	131203765	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0163 a0002c0005t0001g0163	1	292	0.0034	-18	c.140 others(39): Show c.1400-24761_1400-24744delGTATATATATATATATAT		NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131272463	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0082 a0003c0013t0001g0082	1	292	0.0034	-18	c.162 others(36): Show c.1622-1002_1622-985delTTTTTTTTTTTTTTTTTT		NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131309987	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	292	0.0034	-18	c.171 others(39): Show c.1718+36432_1718+36449delAAAAAAAAAAAAAAAAAA		NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK1_chr4_169387809_169617583	169609610	TATGTATA others(11): Show TATGTATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA21309.hp1 HG02976.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0148 a0001c0001t0002g0149	2	260	0.0077	-18	c.-49 others(35): Show c.-49+2392_-49+2409delGTGTGTATATATATACAT		NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	2/35						chr4	TogoVar
NEK2_chr1_211657772_211680621	211677596	GACACAAT others(11): Show GACACAATGGCAGGCACCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	416	0.0024	-18	c.-21 others(29): Show c.-2135_-2118delAGGTGCCTGCCATTGTGT		NEK2	ENSG00000117650.13	transcript	ENST00000366999.9	protein_coding					1976		chr1	TogoVar
NEK2_chr1_211657772_211680621	211678791	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00733.hp2 others(36): Show HG00621.hp2 HG00642.hp2 HG00733.hp2 HG01192.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02145.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03490.hp2 HG03831.hp2 HG03834.hp2 NA18960.hp2 NA18986.hp1 NA18989.hp1 NA18991.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0024 others(5): Show a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0002t0002g0062	39	416	0.0938	-18	c.-33 others(29): Show c.-3330_-3313delTTTTTTTTTTTTTTTTTT		NEK2	ENSG00000117650.13	transcript	ENST00000366999.9	protein_coding					3171		chr1	TogoVar
NEK7_chr1_198151998_198327420	198231297	GTGTGTAT others(11): Show GTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	346	0.0029	-18	c.-28 others(35): Show c.-28-1254_-28-1237delGTGTATATATATATATAT		NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NEK8_chr17_28723788_28748455	28731908	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0169 a0001c0001t0029g0169	1	370	0.0027	-18	c.48- others(33): Show c.48-2052_48-2035delTTTTTTTTTTTTTTTTTT		NEK8	ENSG00000160602.14	transcript	ENST00000268766.11	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
NEK9_chr14_75074353_75132048	75100128	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0193 a0001c0002t0003g0193	1	278	0.0036	-18	c.200 others(35): Show c.2002+846_2002+863delTTTTTTTTTTTTTTTTTT		NEK9	ENSG00000119638.14	transcript	ENST00000238616.10	protein_coding	16/21						chr14	TogoVar
NELFA_chr4_1977723_2013974	2009543	GCGCTGAG others(11): Show GCGCTGAGCTTCCGTCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03098.hp2 NA18522.hp1 others(1): Show HG02809.hp1 HG03098.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0250 a0001c0001t0001g0251	4	360	0.0111	-18	c.-60 others(27): Show c.-602_-585delGGGGACGGAAGCTCAGCG		NELFA	ENSG00000185049.16	transcript	ENST00000382882.9	protein_coding					570		chr4	TogoVar
NELFE_chr6_31947087_31963971	31948097	CCCTGAAC others(11): Show CCCTGAACTCGGGGGAATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	445	0.0023	-18	c.41 others(29): Show c.4186_*4203delCATTCCCCCGAGTTCAGG		NELFE	ENSG00000204356.14	transcript	ENST00000375429.8	protein_coding					3989		chr6	TogoVar
NELL1_chr11_20664586_21580686	21075351	CACTCTGA others(11): Show CACTCTGAATACTCTTTAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG06807.hp1 HG03540.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0007 a0001c0005 a0002c0007	a0001c0005t0002 a0002c0007t0005 a0001c0005t0002 a0002c0007t0005	a0001c0005t0002g0026 a0002c0007t0005g0004 a0001c0005t0002g0026 a0002c0007t0005g0004	2	88	0.0227	-18	c.130 others(39): Show c.1301-38237_1301-38220delACTCTGAATACTCTTTAT		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19						chr11	TogoVar
NELL1_chr11_20664586_21580686	21197707	AAATAGTG others(11): Show AAATAGTGAGGCATCCTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	88	0.0114	-18	c.142 others(39): Show c.1427-31620_1427-31603delGTGAGGCATCCTTTAATA		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21299511	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18993.hp1 HG04228.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0064 a0002c0003t0001g0086 a0002c0002t0001g0064 a0002c0003t0001g0086	2	88	0.0227	-18	c.154 others(39): Show c.1549+70093_1549+70110delGTGTGTGTGTGTGTGTGT		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21483990	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01975.hp1 others(12): Show HG00621.hp1 HG00735.hp2 HG01975.hp1 HG02055.hp2 HG02145.hp2 HG02698.hp1 HG02886.hp2 HG02922.hp1 HG03486.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18964.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0001c0006t0003 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0003 a0001c0008t0001 a0001c0011t0001 a0002c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0088 a0001c0004t0001g0046 others(12): Show a0001c0001t0001g0024 a0001c0001t0001g0088 a0001c0004t0001g0046 a0001c0004t0001g0084 a0001c0004t0001g0087 a0001c0006t0003g0020 a0001c0008t0001g0079 a0001c0011t0001g0070 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0059 a0002c0002t0001g0065 a0002c0002t0001g0074	15	88	0.1705	-18	c.164 others(39): Show c.1646-50359_1646-50342delATATATATATATATATAT		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL2_chr12_44503278_44881315	44624994	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01192.hp1 HG01167.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0155 a0001c0001t0001g0122 a0001c0001t0001g0155	2	158	0.0127	-18	c.144 others(39): Show c.1445-14042_1445-14025delTATATATATATATATACA		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	13/19						chr12	TogoVar
NELL2_chr12_44503278_44881315	44791183	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01993.hp1 HG01891.hp1 HG01993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0001 a0001c0001t0005 a0002c0004t0001	a0001c0001t0005g0034 a0002c0004t0001g0100 a0001c0001t0005g0034 a0002c0004t0001g0100	2	158	0.0127	-18	c.336 others(37): Show c.336-11179_336-11162delATATATATATATATATAT		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19						chr12	TogoVar

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