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	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
NKX6-3_chr8_41640177_41655817	41646932	CCTCCCCC others(12): Show CCTCCCCCTCCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03239.hp1 HG03492.hp2 HG00738.hp2 HG03239.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	3	432	0.0069	-19	c.553 others(34): Show c.553-257_553-239delAGGGGGAGGGGAGGGGGAG		NKX6-3	ENSG00000165066.13	transcript	ENST00000518699.4	protein_coding	2/2						chr8	TogoVar
NLE1_chr17_35123730_35147303	35125331	CAGGAGGT others(12): Show CAGGAGGTGGAGGTGGACGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 NA18522.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0002 a0001c0001t0001g0020	2	398	0.0050	-19	c.70 others(30): Show c.7087_*7105delCCGTCCACCTCCACCTCCT		NLE1	ENSG00000073536.18	transcript	ENST00000442241.9	protein_coding					3398		chr17	TogoVar
NLGN1_chr3_173392744_174299372	173788833	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02523.hp1 others(4): Show HG02055.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 a0001c0001t0040 a0001c0005t0035	a0001c0001t0002g0039 a0001c0001t0003g0026 a0001c0001t0006g0008 others(4): Show a0001c0001t0002g0039 a0001c0001t0003g0026 a0001c0001t0006g0008 a0001c0001t0015g0027 a0001c0001t0017g0023 a0001c0001t0040g0005 a0001c0005t0035g0016	7	12	0.5833	-19	c.554 others(38): Show c.554-18836_554-18818delAAAAAAAAAAAAAAAAAAA		NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN1_chr3_173392744_174299372	174250989	ACGTGCAC others(12): Show ACGTGCACCTATAACTGGTG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0027	a0001c0007t0027g0020 a0001c0007t0027g0020	1	44	0.0227	-19	c.707 others(38): Show c.707-24324_707-24306delGTGCACCTATAACTGGTGC		NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
NLRC3_chr16_3534033_3582403	3556318	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG02896.hp2 others(7): Show HG02486.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03579.hp1 NA18522.hp1 NA21309.hp1	a0006 a0007 a0010 others(1): Show a0006 a0007 a0010 a0016	a0006c0010 a0007c0012 a0010c0014 others(1): Show a0006c0010 a0007c0012 a0010c0014 a0016c0024	a0006c0010t0022 a0006c0010t0027 a0006c0010t0033 others(3): Show a0006c0010t0022 a0006c0010t0027 a0006c0010t0033 a0007c0012t0014 a0010c0014t0025 a0016c0024t0014	a0006c0010t0022g0142 a0006c0010t0022g0143 a0006c0010t0027g0341 others(7): Show a0006c0010t0022g0142 a0006c0010t0022g0143 a0006c0010t0027g0341 a0006c0010t0027g0342 a0006c0010t0033g0144 a0007c0012t0014g0346 a0007c0012t0014g0347 a0010c0014t0025g0350 a0010c0014t0025g0351 a0016c0024t0014g0343	10	50	0.2000	-19	c.218 others(36): Show c.2183+574_2183+592delTTTTTTTTTTTTTTTTTTT		NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding	8/19						chr16	TogoVar
NLRC3_chr16_3534033_3582403	3556336	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	394	0.0025	-19	c.218 others(36): Show c.2183+556_2183+574delCTTTTTTTTTTTTTTTTTT		NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding	8/19						chr16	TogoVar
NLRC5_chr16_56984557_57088520	57075005	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp2 others(9): Show HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01496.hp2 HG02145.hp2 HG02717.hp2 HG02965.hp1 HG03195.hp1 HG03195.hp2 HG03540.hp2 NA20752.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0027	a0001c0006 a0001c0015 a0001c0065 others(4): Show a0001c0006 a0001c0015 a0001c0065 a0003c0100 a0004c0075 a0005c0045 a0027c0108	a0001c0006t0008 a0001c0015t0001 a0001c0065t0001 others(5): Show a0001c0006t0008 a0001c0015t0001 a0001c0065t0001 a0003c0100t0001 a0004c0075t0001 a0005c0045t0008 a0005c0045t0021 a0027c0108t0020	a0001c0006t0008g0277 a0001c0015t0001g0342 a0001c0015t0001g0343 others(9): Show a0001c0006t0008g0277 a0001c0015t0001g0342 a0001c0015t0001g0343 a0001c0015t0001g0349 a0001c0015t0001g0350 a0001c0015t0001g0405 a0001c0065t0001g0363 a0003c0100t0001g0075 a0004c0075t0001g0101 a0005c0045t0008g0330 a0005c0045t0021g0316 a0027c0108t0020g0055	12	64	0.1875	-19	c.475 others(36): Show c.4751+346_4751+364delTTTTTTTTTTTTTTTTTTT		NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	39/48					INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP11_chr19_55780399_55836999	55831095	GCCCCACC others(12): Show GCCCCACCCCCCCCATCCCC	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18943.hp1 NA18955.hp2 others(1): Show HG02080.hp2 NA18943.hp1 NA18955.hp2 NA18969.hp2	a0003 a0010 a0003 a0010	a0003c0023 a0010c0045 a0003c0023 a0010c0045	a0003c0023t0001 a0010c0045t0001 a0003c0023t0001 a0010c0045t0001	a0003c0023t0001g0277 a0003c0023t0001g0278 a0003c0023t0001g0279 others(1): Show a0003c0023t0001g0277 a0003c0023t0001g0278 a0003c0023t0001g0279 a0010c0045t0001g0280	4	50	0.0800	-19	c.-63 others(34): Show c.-63+849_-63+867delGGGGATGGGGGGGGTGGGG		NLRP11	ENSG00000179873.14	transcript	ENST00000589093.6	protein_coding	1/9						chr19	TogoVar
NLRP2_chr19_54961374_55006138	54975106	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02896.hp2 others(3): Show HG02647.hp1 HG02886.hp2 HG02896.hp2 HG02976.hp2 HG03041.hp1 NA18906.hp1	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0010 a0001c0013 a0002c0003 others(1): Show a0001c0010 a0001c0013 a0002c0003 a0023c0045	a0001c0010t0001 a0001c0013t0001 a0001c0013t0017 others(2): Show a0001c0010t0001 a0001c0013t0001 a0001c0013t0017 a0002c0003t0025 a0023c0045t0016	a0001c0010t0001g0184 a0001c0013t0001g0187 a0001c0013t0017g0185 others(3): Show a0001c0010t0001g0184 a0001c0013t0001g0187 a0001c0013t0017g0185 a0001c0013t0017g0188 a0002c0003t0025g0186 a0023c0045t0016g0003	6	18	0.3333	-19	c.325 others(34): Show c.325+581_325+599delTTTTTTTTTTTTTTTTTTT		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54990458	AGTTGGAC others(12): Show AGTTGGACCTGTCAACCGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02451.hp1 others(1): Show HG02109.hp2 HG02280.hp1 HG02451.hp1 HG02886.hp1	a0004 a0014 a0021 a0004 a0014 a0021	a0004c0023 a0014c0029 a0021c0051 a0004c0023 a0014c0029 a0021c0051	a0004c0023t0006 a0014c0029t0023 a0021c0051t0006 a0004c0023t0006 a0014c0029t0023 a0021c0051t0006	a0004c0023t0006g0322 a0004c0023t0006g0349 a0014c0029t0023g0282 others(1): Show a0004c0023t0006g0322 a0004c0023t0006g0349 a0014c0029t0023g0282 a0021c0051t0006g0182	4	428	0.0093	-19	c.253 others(34): Show c.2538-43_2538-25delGTTGGACCTGTCAACCGTG		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	9/12						chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850889	CCGTGGCT others(12): Show CCGTGGCTGCGGTGTAATGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0278 a0001c0005t0017g0279 a0001c0005t0017g0278 a0001c0005t0017g0279	2	415	0.0048	-19	c.-65 others(36): Show c.-65-1125_-65-1107delGTGGCTGCGGTGTAATGTC		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850970	CGTGGCTG others(12): Show CGTGGCTGCGGTGTAATTTA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19091.hp1 NA18950.hp1 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0080 a0002c0003t0001g0081	2	422	0.0047	-19	c.-65 others(36): Show c.-65-1045_-65-1027delGTGGCTGCGGTGTAATTTA		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9						chr19	TogoVar
NLRP5_chr19_55994726_56066810	56043542	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0073 a0007c0073	a0007c0073t0001 a0007c0073t0001	a0007c0073t0001g0217 a0007c0073t0001g0217	1	43	0.0233	-19	c.295 others(38): Show c.2957+2473_2957+2491delTTTTTTTTTTTTTTTTTTT		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957671	AATTATAT others(12): Show AATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01884.hp1 HG03139.hp1 others(1): Show HG00673.hp1 HG01884.hp1 HG03139.hp1 HG03225.hp2	a0013 a0020 a0032 a0013 a0020 a0032	a0013c0018 a0020c0048 a0032c0038 a0013c0018 a0020c0048 a0032c0038	a0013c0018t0026 a0013c0018t0036 a0020c0048t0006 others(1): Show a0013c0018t0026 a0013c0018t0036 a0020c0048t0006 a0032c0038t0027	a0013c0018t0026g0154 a0013c0018t0036g0152 a0020c0048t0006g0100 others(1): Show a0013c0018t0026g0154 a0013c0018t0036g0152 a0020c0048t0006g0100 a0032c0038t0027g0153	4	302	0.0132	-19	c.204 others(38): Show c.2042+1574_2042+1592delTATATATATATATATATAT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NMBR_chr6_142069484_142152122	142124327	TTGCCAGA others(12): Show TTGCCAGAATGAGTCTAGTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0049 a0002c0002t0029g0049	1	328	0.0030	-19	c.-66 others(40): Show c.-664+22698_-664+22716delGACTAGACTCATTCTGGCA		NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	1/3						chr6	TogoVar
NMB_chr15_84650132_84663199	84661841	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	31	0.0323	-19	c.-37 others(30): Show c.-3708_-3690delTTTTTTTTTTTTTTTTTTT		NMB	ENSG00000197696.10	transcript	ENST00000360476.8	protein_coding					3643		chr15	TogoVar
NMNAT2_chr1_183243237_183423380	183273834	CCTCCCTC others(12): Show CCTCCCTCCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	256	0.0039	-19	c.651 others(36): Show c.651+4700_651+4718delAAGGAAGGAAGGGAGGGAG		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	8/10						chr1	TogoVar
NMT2_chr10_15100770_15173693	15112198	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	258	0.0039	-19	c.133 others(36): Show c.1338+579_1338+597delATATATATATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112214	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	259	0.0039	-19	c.133 others(36): Show c.1338+563_1338+581delAAAAAAAAAAAAAAAAATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15147095	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18984.hp2 NA19058.hp1 HG02965.hp1 NA18984.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0004t0048 a0001c0001t0002 a0001c0001t0004 a0001c0004t0048	a0001c0001t0002g0027 a0001c0001t0004g0273 a0001c0004t0048g0016 a0001c0001t0002g0027 a0001c0001t0004g0273 a0001c0004t0048g0016	3	71	0.0423	-19	c.111 others(36): Show c.111-5557_111-5539delTTTTTTTTTTTTTTTTTTT		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11						chr10	TogoVar
NMU_chr4_55590231_55641298	55593359	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG03139.hp1 HG03579.hp1 HG02895.hp2 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318	3	23	0.1304	-19	c.20 others(30): Show c.2038_*2056delTTTTTTTTTTTTTTTTTTT		NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding					1871		chr4	TogoVar
NOL11_chr17_67712936_67749531	67723370	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG02896.hp1 HG02486.hp2 HG02809.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0157 a0001c0002t0001g0162 a0001c0002t0001g0073 a0001c0002t0001g0157 a0001c0002t0001g0162	3	16	0.1875	-19	c.520 others(34): Show c.520-660_520-642delTTTTTTTTTTTTTTTTTTT		NOL11	ENSG00000130935.10	transcript	ENST00000253247.9	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
NOL3_chr16_67165538_67180737	67178129	GAGCCCCG others(12): Show GAGCCCCGCCCCTCGCCCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01884.hp2 HG01993.hp2 others(25): Show HG00438.hp1 HG01884.hp2 HG01993.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03579.hp2 HG03688.hp1 NA18522.hp1 NA19060.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0018 others(4): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0061 a0001c0001t0002g0062	28	296	0.0946	-19	c.30 others(30): Show c.3076_*3094delAGCCCCGCCCCTCGCCCGA		NOL3	ENSG00000140939.15	transcript	ENST00000564992.2	protein_coding					2393		chr16	TogoVar
NOL8_chr9_92292358_92330350	92293522	ATTAAATC others(12): Show ATTAAATCTTGTGCTACTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	406	0.0025	-19	c.42 others(30): Show c.4295_*4313delACAGTAGCACAAGATTTAA		NOL8	ENSG00000198000.12	transcript	ENST00000442668.7	protein_coding					3835		chr9	TogoVar
NOL9_chr1_6516347_6559513	6555866	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	10	0.1000	-19	c.-13 others(30): Show c.-1383_-1365delAAAAAAAAAAAAAAAAAAA		NOL9	ENSG00000162408.11	transcript	ENST00000377705.6	protein_coding					1354		chr1	TogoVar
NOP14_chr4_2932936_2968406	2961087	ATAATAAT others(12): Show ATAATAATATATTAATATTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18966.hp2 NA18968.hp1 HG02280.hp1 NA18966.hp2 NA18968.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0005 a0002c0002 a0007c0005	a0002c0002t0001 a0007c0005t0001 a0002c0002t0001 a0007c0005t0001	a0002c0002t0001g0227 a0002c0002t0001g0248 a0007c0005t0001g0247 a0002c0002t0001g0227 a0002c0002t0001g0248 a0007c0005t0001g0247	3	419	0.0072	-19	c.195 others(36): Show c.195+2019_195+2037delAAATATTAATATATTATTA		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17						chr4	TogoVar
NOP58_chr2_202260763_202308661	202291968	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01071.hp1 others(18): Show HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02273.hp2 HG02293.hp2 HG02622.hp1 HG02698.hp2 HG03831.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 others(15): Show a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0257 a0001c0001t0004g0192 a0001c0001t0004g0193	21	52	0.4038	-19	c.780 others(34): Show c.780+716_780+734delTTTTTTTTTTTTTTTTTTT		NOP58	ENSG00000055044.11	transcript	ENST00000264279.10	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
NOS1AP_chr1_162064691_162375475	162120079	GTATATAC others(12): Show GTATATACATATGTATATGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp1 others(159): Show HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18979.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0015 a0001c0002t0025 a0001c0002t0027 a0001c0002t0029 a0001c0002t0032 a0001c0002t0033 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0013 a0001c0003t0018 a0001c0003t0024 a0001c0003t0031 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0026 a0001c0004t0034 a0001c0004t0035 a0001c0005t0007 a0001c0007t0008	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 others(159): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0103 a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0099 a0001c0001t0003g0166 a0001c0001t0004g0037 a0001c0001t0004g0113 a0001c0001t0004g0150 a0001c0001t0005g0071 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0176 a0001c0001t0009g0139 a0001c0001t0011g0003 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0012g0170 a0001c0001t0012g0173 a0001c0001t0014g0083 a0001c0001t0016g0096 a0001c0001t0017g0051 a0001c0001t0019g0062 a0001c0001t0021g0069 a0001c0001t0022g0129 a0001c0001t0030g0034 a0001c0002t0001g0001 a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0052 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0162 a0001c0002t0002g0014 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0031 a0001c0002t0002g0039 a0001c0002t0002g0070 a0001c0002t0002g0105 a0001c0002t0002g0115 a0001c0002t0002g0127 a0001c0002t0002g0148 a0001c0002t0002g0182 a0001c0002t0004g0015 a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0004g0120 a0001c0002t0004g0121 a0001c0002t0004g0169 a0001c0002t0006g0092 a0001c0002t0009g0074 a0001c0002t0009g0145 a0001c0002t0015g0011 a0001c0002t0025g0016 a0001c0002t0027g0035 a0001c0002t0029g0125 a0001c0002t0032g0177 a0001c0002t0033g0107 a0001c0003t0003g0007 a0001c0003t0003g0008 a0001c0003t0003g0050 a0001c0003t0003g0054 a0001c0003t0003g0076 a0001c0003t0003g0084 a0001c0003t0003g0117 a0001c0003t0003g0119 a0001c0003t0003g0133 a0001c0003t0003g0147 a0001c0003t0003g0149 a0001c0003t0003g0168 a0001c0003t0003g0174 a0001c0003t0003g0175 a0001c0003t0005g0136 a0001c0003t0005g0172 a0001c0003t0006g0012 a0001c0003t0006g0106 a0001c0003t0006g0114 a0001c0003t0006g0163 a0001c0003t0007g0072 a0001c0003t0007g0154 a0001c0003t0010g0068 a0001c0003t0010g0078 a0001c0003t0010g0090 a0001c0003t0013g0180 a0001c0003t0013g0181 a0001c0003t0018g0044 a0001c0003t0024g0065 a0001c0003t0031g0178 a0001c0004t0003g0046 a0001c0004t0003g0058 a0001c0004t0003g0061 a0001c0004t0003g0130 a0001c0004t0003g0155 a0001c0004t0003g0159 a0001c0004t0003g0167 a0001c0004t0003g0171 a0001c0004t0003g0179 a0001c0004t0005g0101 a0001c0004t0006g0142 a0001c0004t0026g0013 a0001c0004t0034g0002 a0001c0004t0035g0004 a0001c0005t0007g0010 a0001c0005t0007g0063 a0001c0005t0007g0073 a0001c0007t0008g0075	162	180	0.9000	-19	c.106 others(38): Show c.106-34317_106-34299delTATGTATATGATATATACA		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162255490	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02647.hp1 others(3): Show HG01109.hp2 HG01243.hp1 HG02647.hp1 HG02723.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0001t0014 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0001t0014 a0001c0003t0003 a0001c0004t0003 a0001c0007t0008	a0001c0001t0002g0146 a0001c0001t0014g0083 a0001c0003t0003g0084 others(3): Show a0001c0001t0002g0146 a0001c0001t0014g0083 a0001c0003t0003g0084 a0001c0004t0003g0058 a0001c0004t0003g0171 a0001c0007t0008g0075	6	20	0.3000	-19	c.178 others(38): Show c.178-31837_178-31819delTTTTTTTTTTTTTTTTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS2_chr17_27751766_27805529	27798808	ATCTCTAT others(12): Show ATCTCTATGGCTTTACAAAG	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18987.hp1 NA18987.hp1	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0011 a0010c0030t0011	a0010c0030t0011g0220 a0010c0030t0011g0220	1	400	0.0025	-19	c.-18 others(24): Show c.-18_1delCTTTGTAAAGCCATAGAGA	p.Met others(3): Show p.Met1fs	NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	2/27	265/4206	1/3462	1/1153			chr17	TogoVar
NOVA1_chr14_26438090_26603033	26554136	AAAAAAGA others(12): Show AAAAAAGAAAGAAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0238 a0001c0001t0035g0238	1	242	0.0041	-19	c.280 others(38): Show c.280+41255_280+41273delCTTCCTTTTCTTTCTTTTT		NOVA1	ENSG00000139910.20	transcript	ENST00000539517.7	protein_coding	2/4						chr14	TogoVar
NOX4_chr11_89319353_89496375	89438825	ATATCTTA others(12): Show ATATCTTATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02723.hp2 HG01074.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0171 a0001c0001t0017g0172 a0001c0001t0017g0171 a0001c0001t0017g0172	2	285	0.0070	-19	c.475 others(36): Show c.475+1844_475+1862delATATATAATATATAAGATA		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	6/17						chr11	TogoVar
NPAS1_chr19_47014837_47050775	47033975	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02559.hp2 HG02738.hp2 others(5): Show HG01175.hp2 HG02559.hp2 HG02738.hp2 HG02809.hp1 HG03453.hp2 HG03579.hp2 HG03942.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0028 a0001c0001t0001g0405 a0001c0002t0001g0061 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0405 a0001c0002t0001g0061 a0001c0002t0001g0312 a0001c0003t0001g0180 a0001c0003t0001g0296 a0001c0003t0001g0298 a0001c0005t0001g0317	8	29	0.2759	-19	c.522 others(36): Show c.522+1271_522+1289delAAAAAAAAAAAAAAAAAAA		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS2_chr2_100815139_101001829	100988979	CCTGCTCC others(12): Show CCTGCTCCTCCAGGCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG02055.hp1 others(8): Show HG01167.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02572.hp1 HG02647.hp1 HG02976.hp1 HG03041.hp1 HG03453.hp2 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003	a0001c0001t0003 a0001c0002t0003 a0001c0008t0005 others(1): Show a0001c0001t0003 a0001c0002t0003 a0001c0008t0005 a0002c0003t0005	a0001c0001t0003g0118 a0001c0001t0003g0131 a0001c0001t0003g0135 others(8): Show a0001c0001t0003g0118 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0238 a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0269 a0001c0001t0003g0274 a0001c0002t0003g0175 a0001c0008t0005g0233 a0002c0003t0005g0033	11	286	0.0385	-19	c.182 others(36): Show c.1827+722_1827+740delACTGCTCCTCCAGGCCCCC		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	33328446	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02486.hp1 HG01261.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0060 a0001c0001t0010g0008 a0001c0001t0001g0060 a0001c0001t0010g0008	2	5	0.4000	-19	c.386 others(38): Show c.386-38720_386-38702delTTTTTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64103484	CCCCTGGG others(12): Show CCCCTGGGTCGCTGGCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0015 a0001c0002t0013g0015	1	352	0.0028	-19	c.23 others(30): Show c.2327_*2345delAGGAGCCAGCGACCCAGGG		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding					317		chr20	TogoVar
NPC1L1_chr7_44507535_44546330	44515987	GTCAGGCA others(12): Show GTCAGGCAGGGCACAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02486.hp1 HG02622.hp2 HG00280.hp2 HG02486.hp1 HG02622.hp2	a0001 a0006 a0001 a0006	a0001c0013 a0006c0017 a0001c0013 a0006c0017	a0001c0013t0005 a0006c0017t0003 a0001c0013t0005 a0006c0017t0003	a0001c0013t0005g0102 a0006c0017t0003g0044 a0001c0013t0005g0102 a0006c0017t0003g0044	3	318	0.0094	-19	c.363 others(34): Show c.3634-41_3634-23delTGCCCTGTGCCCTGCCTGA		NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding	17/18						chr7	TogoVar
NPEPL1_chr20_58687800_58720844	58691364	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0154 a0002c0002t0002g0154	1	45	0.0222	-19	c.-15 others(30): Show c.-1536_-1518delTTTTTTTTTTTTTTTTTTT		NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding					1435		chr20	TogoVar
NPFFR2_chr4_72027000_72153305	72076002	CACACAGA others(12): Show CACACAGAGAGAGAGAGAGG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	302	0.0033	-19	c.-8+ others(36): Show c.-8+43803_-8+43821delACACAGAGAGAGAGAGAGG		NPFFR2	ENSG00000056291.19	transcript	ENST00000308744.12	protein_coding	1/3						chr4	TogoVar
NPHP4_chr1_5857811_5997425	5914257	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp2 HG03453.hp1 HG06807.hp1	a0002 a0002	a0002c0006 a0002c0031 a0002c0032 a0002c0006 a0002c0031 a0002c0032	a0002c0006t0001 a0002c0006t0002 a0002c0031t0001 others(1): Show a0002c0006t0001 a0002c0006t0002 a0002c0031t0001 a0002c0032t0002	a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(5): Show a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 a0002c0006t0002g0195 a0002c0006t0002g0197 a0002c0006t0002g0198 a0002c0031t0001g0137 a0002c0032t0002g0196	8	77	0.1039	-19	c.144 others(38): Show c.1442-5063_1442-5045delTTTTTTTTTTTTTTTTTTT		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	11/29						chr1	TogoVar
NPHP4_chr1_5857811_5997425	5975194	GTGCACAC others(12): Show GTGCACACATGTTTGCACAC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0005 a0014c0022t0005	a0014c0022t0005g0207 a0014c0022t0005g0207	1	208	0.0048	-19	c.279 others(36): Show c.279+3057_279+3075delGTGTGCAAACATGTGTGCA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29						chr1	TogoVar
NPIPA7_chr16_16374140_16398972	16377068	ACTGGGGG others(12): Show ACTGGGGGTCCTGGGCTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02922.hp2 HG00642.hp2 HG02922.hp2	a0003 a0009 a0003 a0009	a0003c0006 a0009c0009 a0003c0006 a0009c0009	a0003c0006t0001 a0009c0009t0001 a0003c0006t0001 a0009c0009t0001	a0003c0006t0001g0012 a0009c0009t0001g0011 a0003c0006t0001g0012 a0009c0009t0001g0011	2	132	0.0152	-19	c.-21 others(30): Show c.-2176_-2158delCTGGGGGTCCTGGGCTGGG		NPIPA7	ENSG00000214967.6	transcript	ENST00000530217.3	protein_coding					2071		chr16	TogoVar
NPIPA8_chr16_18312919_18341736	18334807	GCAGGACC others(12): Show GCAGGACCCCCAGCCCAGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp2 NA19010.hp2 HG00639.hp2 NA19010.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0006 a0002c0005t0005 a0002c0005t0006	a0002c0005t0005g0032 a0002c0005t0006g0033 a0002c0005t0005g0032 a0002c0005t0006g0033	2	40	0.0500	-19	c.-18 others(28): Show c.-185_-167delGGCTGGGCTGGGGGTCCTG		NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding	2/10				2146		chr16	TogoVar
NPIPA8_chr16_18312919_18341736	18341174	TAAGGGGG others(12): Show TAAGGGGGATAAGGGAGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG00639.hp1 HG01884.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0003 a0001c0001t0001 a0006c0009t0003	a0001c0001t0001g0030 a0006c0009t0003g0009 a0001c0001t0001g0030 a0006c0009t0003g0009	2	40	0.0500	-19	c.-48 others(30): Show c.-4886_-4868delCCCCTCCCTTATCCCCCTT		NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding					4439		chr16	TogoVar
NPIPB12_chr16_29478534_29511408	29484988	GCGGAATC others(12): Show GCGGAATCCGCAGACGCTCA	G G	frameshift_variant frameshift_variant	HIGH	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0014 a0001c0004t0002g0015	2	20	0.1000	-19	c.146 others(28): Show c.1469_1487delTGAGCGTCTGCGGATTCCG	p.Leu others(5): Show p.Leu490fs	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2150/3605	1469/2787	490/928			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224453	AGCGGCCC others(12): Show AGCGGCCCCCGCAGACGCTC	A A	frameshift_variant frameshift_variant	HIGH	HG01099.hp2 HG01099.hp2	a0021 a0021	a0021c0055 a0021c0055	a0021c0055t0002 a0021c0055t0002	a0021c0055t0002g0136 a0021c0055t0002g0136	1	144	0.0069	-19	c.197 others(28): Show c.1974_1992delGAGCGTCTGCGGGGGCCGC	p.Val others(5): Show p.Val660fs	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4735/6292	1974/3417	658/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224580	GCGGAATC others(12): Show GCGGAATCCGCAGACGCTCA	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00544.hp1 HG00639.hp1 others(6): Show HG00099.hp2 HG00544.hp1 HG00639.hp1 HG00741.hp2 HG01255.hp1 HG01981.hp2 HG02818.hp1 HG03195.hp1 NA19067.hp2	a0006 a0010 a0018 others(2): Show a0006 a0010 a0018 a0020 a0034	a0006c0010 a0006c0057 a0010c0038 others(4): Show a0006c0010 a0006c0057 a0010c0038 a0010c0039 a0018c0028 a0020c0029 a0034c0052	a0006c0010t0002 a0006c0057t0003 a0010c0038t0001 others(4): Show a0006c0010t0002 a0006c0057t0003 a0010c0038t0001 a0010c0039t0023 a0018c0028t0002 a0020c0029t0002 a0034c0052t0001	a0006c0010t0002g0126 a0006c0010t0002g0127 a0006c0010t0002g0129 others(6): Show a0006c0010t0002g0126 a0006c0010t0002g0127 a0006c0010t0002g0129 a0006c0057t0003g0114 a0010c0038t0001g0073 a0010c0039t0023g0144 a0018c0028t0002g0125 a0020c0029t0002g0124 a0034c0052t0001g0034	9	144	0.0625	-19	c.184 others(28): Show c.1847_1865delTGAGCGTCTGCGGATTCCG	p.Leu others(5): Show p.Leu616fs	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4608/6292	1847/3417	616/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224812	AGCGGCCC others(12): Show AGCGGCCCCCGCAGACGCTC	A A	frameshift_variant frameshift_variant	HIGH	HG02683.hp1 HG02683.hp1	a0029 a0029	a0029c0046 a0029c0046	a0029c0046t0002 a0029c0046t0002	a0029c0046t0002g0117 a0029c0046t0002g0117	1	144	0.0069	-19	c.161 others(28): Show c.1615_1633delGAGCGTCTGCGGGGGCCGC	p.Glu others(5): Show p.Glu539fs	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4376/6292	1615/3417	539/1138			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21836142	AGCGGCCC others(12): Show AGCGGCCCCCGCAGACGCTC	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00280.hp2 HG00738.hp2 others(10): Show HG00140.hp2 HG00280.hp2 HG00738.hp2 HG01243.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02148.hp2 HG02559.hp2 HG02630.hp1 HG02809.hp2 NA18957.hp1	a0007 a0014 a0025 others(3): Show a0007 a0014 a0025 a0034 a0043 a0054	a0007c0008 a0014c0022 a0014c0056 others(4): Show a0007c0008 a0014c0022 a0014c0056 a0025c0067 a0034c0063 a0043c0027 a0054c0057	a0007c0008t0001 a0014c0022t0001 a0014c0056t0001 others(4): Show a0007c0008t0001 a0014c0022t0001 a0014c0056t0001 a0025c0067t0001 a0034c0063t0001 a0043c0027t0001 a0054c0057t0001	a0007c0008t0001g0001 a0007c0008t0001g0081 a0007c0008t0001g0085 others(9): Show a0007c0008t0001g0001 a0007c0008t0001g0081 a0007c0008t0001g0085 a0007c0008t0001g0086 a0007c0008t0001g0088 a0014c0022t0001g0074 a0014c0022t0001g0075 a0014c0056t0001g0049 a0025c0067t0001g0082 a0034c0063t0001g0084 a0043c0027t0001g0078 a0054c0057t0001g0112	13	204	0.0637	-19	c.222 others(28): Show c.2226_2244delGAGCGTCTGCGGGGGCCGC	p.Val others(5): Show p.Val744fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2459/4020	2226/3669	742/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21836268	AGCGGCCC others(12): Show AGCGGCCCCCGCAGACGCTC	A A	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00741.hp1 HG01255.hp1 others(16): Show HG00544.hp1 HG00741.hp1 HG01255.hp1 HG01346.hp1 HG01934.hp2 HG02135.hp2 HG03017.hp1 HG03453.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 NA18747.hp1 NA18906.hp1 NA18964.hp1 NA18971.hp1 NA18977.hp2 NA18983.hp1 NA19012.hp2 NA19043.hp1	a0004 a0022 a0046 a0004 a0022 a0046	a0004c0006 a0004c0015 a0004c0064 others(3): Show a0004c0006 a0004c0015 a0004c0064 a0004c0065 a0022c0016 a0046c0046	a0004c0006t0001 a0004c0015t0001 a0004c0064t0001 others(3): Show a0004c0006t0001 a0004c0015t0001 a0004c0064t0001 a0004c0065t0001 a0022c0016t0001 a0046c0046t0001	a0004c0006t0001g0002 a0004c0006t0001g0044 a0004c0006t0001g0094 others(15): Show a0004c0006t0001g0002 a0004c0006t0001g0044 a0004c0006t0001g0094 a0004c0006t0001g0108 a0004c0006t0001g0115 a0004c0006t0001g0116 a0004c0006t0001g0117 a0004c0006t0001g0118 a0004c0006t0001g0119 a0004c0006t0001g0120 a0004c0015t0001g0092 a0004c0015t0001g0093 a0004c0015t0001g0095 a0004c0064t0001g0091 a0004c0065t0001g0090 a0022c0016t0001g0048 a0022c0016t0001g0111 a0046c0046t0001g0047	19	204	0.0931	-19	c.210 others(28): Show c.2100_2118delGAGCGTCTGCGGGGGCCGC	p.Val others(5): Show p.Val702fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2333/4020	2100/3669	700/1222			chr16	TogoVar

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