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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NME2_chr17_51161411_51176744	51176422	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	184	0.0054	35	c.48 others(46): Show c.4818_*4819insAAAATATATATATATATATATATATATATATATA T	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NMNAT2_chr1_183243237_183423380	183364680	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0076 a0001c0001t0012g0076	1	256	0.0039	35	c.85+ others(52): Show c.85+53502_85+53503insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183379092	A A	ATCTATAT others(28): Show ATCTATATCTATATCTATATCTATATCTATATCTAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0069 a0001c0001t0006g0069	1	187	0.0053	35	c.85+ others(52): Show c.85+39090_85+39091insATAGATATAGATATAGATATAGATATAG ATATAGA	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMT2_chr10_15100770_15173693	15168747	T T	TCCCGCCC others(28): Show TCCCGCCCTCCGTCCCGCCCTCCGTCCCGCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(23): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01192.hp1 HG01361.hp1 HG01517.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG03209.hp2 NA18955.hp1 NA18962.hp2 NA19005.hp2 NA19012.hp1 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0001t0021 a0001c0001t0040 a0001c0001t0045 a0001c0003t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 others(23): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0002g0047 a0001c0001t0002g0065 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0006g0117 a0001c0001t0008g0092 a0001c0001t0020g0064 a0001c0001t0020g0068 a0001c0001t0021g0051 a0001c0001t0040g0062 a0001c0001t0045g0050 a0001c0003t0001g0056	26	272	0.0956	35	c.-13 others(44): Show c.-136_-135insGAGGGGGCGGGACGGAGGGCGGGACGGAGGGCGGG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding		55		chr10	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19070.hp2 NA18954.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0001g0012 a0001c0001t0001g0077	2	36	0.0556	35	c.773 others(52): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATTTT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	35	0.0286	35	c.773 others(52): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATATT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	35	0.0286	35	c.773 others(52): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATATA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	61	0.0164	35	c.180 others(52): Show c.1806+486_1806+487insATATATATATATATATATATATATATTT TTTTTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	61	0.0164	35	c.180 others(52): Show c.1806+486_1806+487insATATATATATATATATATATATATTTTT TTTTTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02280.hp2 HG02615.hp2 others(5): Show HG02135.hp1 HG02280.hp2 HG02615.hp2 HG02717.hp2 HG02896.hp2 HG03041.hp1 HG03579.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0002 a0001c0001t0021 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0001t0021 a0001c0002t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0010 a0002c0006t0008	a0001c0001t0002g0087 a0001c0001t0021g0069 a0001c0002t0002g0031 others(5): Show a0001c0001t0002g0087 a0001c0001t0021g0069 a0001c0002t0002g0031 a0001c0002t0002g0105 a0001c0003t0003g0089 a0001c0003t0006g0012 a0001c0003t0010g0078 a0002c0006t0008g0095	8	32	0.2500	35	c.177 others(54): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAAGAGA others(28): Show AGAAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03831.hp2 NA19058.hp1 others(1): Show HG02280.hp1 HG03831.hp2 NA19058.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0004 a0001c0002t0032 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0032 a0001c0004t0003	a0001c0002t0002g0024 a0001c0002t0004g0169 a0001c0002t0032g0177 others(1): Show a0001c0002t0002g0024 a0001c0002t0004g0169 a0001c0002t0032g0177 a0001c0004t0003g0179	4	99	0.0404	35	c.178 others(54): Show c.178-25803_178-25802insAGAGAGGAGAGAGAGAGAGAAGAGAG AAGAGAGGA	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCTC others(28): Show CTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00741.hp2 others(9): Show HG00609.hp1 HG00673.hp1 HG00741.hp2 HG02055.hp2 HG02080.hp2 HG02809.hp1 HG03209.hp2 HG03453.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0002t0001 a0001c0003t0005 a0001c0003t0006 a0001c0004t0003 a0001c0005t0007	a0001c0001t0002g0066 a0001c0001t0005g0176 a0001c0001t0019g0062 others(9): Show a0001c0001t0002g0066 a0001c0001t0005g0176 a0001c0001t0019g0062 a0001c0002t0001g0019 a0001c0002t0001g0080 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0003t0005g0136 a0001c0003t0006g0163 a0001c0004t0003g0167 a0001c0005t0007g0063	12	60	0.2000	35	c.178 others(54): Show c.178-22876_178-22875insTCCTCTCCTCTCCTCTCCTCCCCTCC CCTCCCCTG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCTC others(28): Show CTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01175.hp2 HG01517.hp1 others(4): Show HG00544.hp1 HG01175.hp2 HG01517.hp1 HG02132.hp2 NA18948.hp1 NA18948.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 a0001c0004t0003	a0001c0001t0001g0020 a0001c0001t0002g0009 a0001c0001t0002g0053 others(4): Show a0001c0001t0001g0020 a0001c0001t0002g0009 a0001c0001t0002g0053 a0001c0002t0001g0153 a0001c0002t0004g0169 a0001c0003t0003g0054 a0001c0004t0003g0046	7	55	0.1273	35	c.178 others(54): Show c.178-22876_178-22875insTCCTCTCCTCTCCTCTCCTCTCCTCC CCTCCCCTG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NOTCH2NLB_chr1_148595285_148684746	148651162	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0025 a0002c0003t0019g0025	1	18	0.0556	35	c.4-1 others(50): Show c.4-11074_4-11073insATATATATATTTTTTTTTTTTTTTTTTTTT TTTTT	NOTCH2NLB	ENSG00000286019.2	transcript	ENST00000593495.4	protein_coding	1/4			chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149419855	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0046 a0017c0015t0046	a0017c0015t0046g0232 a0017c0015t0046g0232	1	146	0.0068	35	c.136 others(54): Show c.136-11086_136-11085insATATATATATATATATATATATATAT TTTTTTTTT	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	40	0.0250	35	c.74- others(52): Show c.74-11073_74-11072insATATATATATATATATATATATTTTTTT TTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0005 a0007c0011t0005	a0007c0011t0005g0149 a0007c0011t0005g0149	1	40	0.0250	35	c.74- others(52): Show c.74-11073_74-11072insATATATATATATATATATTTTTTTTTTT TTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04199.hp1 HG03927.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0043 a0001c0002t0002g0011 a0001c0002t0002g0043	2	52	0.0385	35	c.74- others(52): Show c.74-11085_74-11084insATATATATATATATATATATATATATAT ATATATT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH3_chr19_15154038_15205995	15173052	C C	CCTCCTCC others(28): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02083.hp1 HG02132.hp1 others(2): Show HG00738.hp2 HG02083.hp1 HG02132.hp1 HG04184.hp1 NA19086.hp1	a0002 a0030 a0002 a0030	a0002c0003 a0002c0017 a0030c0056 a0002c0003 a0002c0017 a0030c0056	a0002c0003t0003 a0002c0003t0004 a0002c0017t0004 others(1): Show a0002c0003t0003 a0002c0003t0004 a0002c0017t0004 a0030c0056t0004	a0002c0003t0003g0075 a0002c0003t0004g0061 a0002c0003t0004g0123 others(2): Show a0002c0003t0003g0075 a0002c0003t0004g0061 a0002c0003t0004g0123 a0002c0017t0004g0250 a0030c0056t0004g0093	5	123	0.0407	35	c.473 others(54): Show c.4736+1015_4736+1016insAAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAG	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15173052	C C	CCTCCTCC others(28): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG02523.hp2 others(8): Show HG00438.hp2 HG00673.hp2 HG02523.hp2 HG02965.hp1 HG04204.hp1 HG04204.hp2 NA18951.hp1 NA18974.hp2 NA18986.hp2 NA19062.hp1 NA19078.hp2	a0002 a0011 a0023 a0002 a0011 a0023	a0002c0003 a0002c0006 a0011c0027 others(2): Show a0002c0003 a0002c0006 a0011c0027 a0011c0057 a0023c0060	a0002c0003t0003 a0002c0003t0004 a0002c0003t0022 others(4): Show a0002c0003t0003 a0002c0003t0004 a0002c0003t0022 a0002c0006t0003 a0011c0027t0016 a0011c0057t0003 a0023c0060t0004	a0002c0003t0003g0016 a0002c0003t0003g0063 a0002c0003t0003g0121 others(8): Show a0002c0003t0003g0016 a0002c0003t0003g0063 a0002c0003t0003g0121 a0002c0003t0003g0160 a0002c0003t0004g0072 a0002c0003t0004g0125 a0002c0003t0022g0130 a0002c0006t0003g0255 a0011c0027t0016g0156 a0011c0057t0003g0037 a0023c0060t0004g0062	11	129	0.0853	35	c.473 others(54): Show c.4736+1015_4736+1016insAAGAAGAAGAGGAGGAGGAGGAGGAG GAGGAGGAG	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar
NOTUM_chr17_81947507_81966187	81952419	A A	AGGGGAGG others(28): Show AGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	381	0.0026	35	c.54 others(44): Show c.541_*542insCTCCTCCTCTCCCTCCCCTCCTCCTCTCCCTCCCC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		87		chr17	TogoVar
NOX1_chrX_100838324_100879359	100853288	T T	TCTTTCTT others(28): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	292	0.0034	35	c.805 others(52): Show c.805-1964_805-1963insGAAAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAG	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX4_chr11_89319353_89496375	89438792	G G	GTATAATA others(28): Show GTATAATATATAATATATTATATATTATATATAATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01928.hp2 HG02004.hp1 others(1): Show HG01256.hp2 HG01928.hp2 HG02004.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0096	a0001c0001t0001g0077 a0001c0001t0003g0188 a0001c0001t0013g0078 others(1): Show a0001c0001t0001g0077 a0001c0001t0003g0188 a0001c0001t0013g0078 a0001c0001t0096g0241	4	265	0.0151	35	c.475 others(52): Show c.475+1895_475+1896insTATTATATATAATATATAATATATTATA TATTATA	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	6/17			chr11	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	1	62	0.0161	35	c.-79 others(44): Show c.-793_-792insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding		354		chr14	TogoVar
NPEPL1_chr20_58687800_58720844	58711122	T T	TCTCCTCC others(28): Show TCTCCTCCTCCTCCCCCTCTCCTCCTCCTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	291	0.0034	35	c.901 others(52): Show c.901-1342_901-1341insCTCTCCTCCTCCTCCCCCTCCTCCTCCT CCTCCCC	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NPFFR1_chr10_70242329_70289004	70272211	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0054 a0001c0001t0068g0054	1	100	0.0100	35	c.8-5 others(48): Show c.8-5821_8-5820insTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTC TTT	NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3			chr10	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	32	0.0313	35	c.517 others(52): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAATATATATAT ATATATA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(28): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0192 a0005c0009t0001g0192	1	32	0.0313	35	c.517 others(52): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAAAATATATAT ATATATA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(28): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0158 a0001c0004t0001g0158	1	32	0.0313	35	c.517 others(52): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATATA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar
NPIPB15_chr16_74371306_74397115	74377833	T T	TCCCCCTC others(28): Show TCCCCCTCCCCTCCCCCTCCCCCTCCTCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	200	0.0050	35	c.-22 others(50): Show c.-22-115_-22-114insCTCCCCTCCCCCTCCCCCTCCTCCTCCCCT CCCCC	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPPB_chr1_11852464_11863945	11853617	A A	AAAAACAA others(28): Show AAAAACAAAACAAAACAAAACAAAACAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	376	0.0027	35	c.40 others(46): Show c.4037_*4038insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT T	NPPB	ENSG00000120937.9	transcript	ENST00000376468.4	protein_coding		3846		chr1	TogoVar
NPSR1_chr7_34653218_34854978	34790966	T T	TATATATC others(28): Show TATATATCATATATGTTATATGTTATATTATATATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0004 a0010c0024t0004	a0010c0024t0004g0165 a0010c0024t0004g0165	1	239	0.0042	35	c.384 others(54): Show c.384+12407_384+12408insCATATATGTTATATGTTATATTATAT ATCATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPTX2_chr7_98612285_98634869	98632757	C C	CAGCAAGA others(28): Show CAGCAAGAGAGAAGAGATTCAAGATGTACAAGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	410	0.0024	35	c.41 others(46): Show c.4128_*4129insAGCAAGAGAGAAGAGATTCAAGATGTACAAGGAA T	NPTX2	ENSG00000106236.4	transcript	ENST00000265634.4	protein_coding		2889		chr7	TogoVar
NPTXR_chr22_38813452_38849028	38837845	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp2 HG01517.hp2 others(8): Show HG01358.hp1 HG01515.hp2 HG01517.hp2 HG02129.hp1 HG02602.hp1 HG02735.hp2 HG03490.hp1 HG03927.hp2 NA18950.hp2 NA18974.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0001 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0116 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0007g0123 a0001c0001t0010g0119	11	183	0.0601	35	c.624 others(52): Show c.624+5389_624+5390insTAAAATAAAATAAAATAAAATAAAATAA AATAAAA	NPTXR	ENSG00000221890.6	transcript	ENST00000333039.4	protein_coding	1/4			chr22	TogoVar
NPY4R2_chr10_47913662_47928524	47918367	G G	GAAAGAAA others(28): Show GAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0016 a0001c0003t0004g0016	1	242	0.0041	35	c.-79 others(44): Show c.-791_-790insAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		294		chr10	TogoVar
NPY4R2_chr10_47913662_47928524	47918375	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0002 a0001c0005t0001g0002	1	200	0.0050	35	c.-78 others(44): Show c.-783_-782insAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		286		chr10	TogoVar
NR2F1_chr5_93578222_93599611	93581729	T T	TCTCTCTC others(28): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	260	0.0038	35	c.-32 others(46): Show c.-3295_-3294insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC C	NR2F1	ENSG00000175745.15	transcript	ENST00000327111.8	protein_coding		1492		chr5	TogoVar
NR5A2_chr1_200022710_200182415	200074736	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	68	0.0147	35	c.111 others(56): Show c.1110+25938_1110+25939insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NRAP_chr10_113583714_113669041	113647645	C C	CCCCCGGT others(28): Show CCCCCGGTGGTACTGCCTCCCCAAGTGGTACTGTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0031 a0031	a0031c0032 a0031c0032	a0031c0032t0002 a0031c0032t0002	a0031c0032t0002g0229 a0031c0032t0002g0229	1	271	0.0037	35	c.889 others(50): Show c.889-619_889-618insAGACAGTACCACTTGGGGAGGCAGTACCAC CGGGG	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41			chr10	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA18965.hp2 HG04204.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0198 a0001c0001t0007g0108 a0001c0001t0001g0198 a0001c0001t0007g0108	2	77	0.0260	35	c.64 others(46): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA T	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	76	0.0132	35	c.64 others(46): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAATATATATATATA T	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 NA18984.hp2 HG03239.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0048 a0001c0001t0007g0086 a0001c0001t0002g0048 a0001c0001t0007g0086	2	77	0.0260	35	c.64 others(46): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAATATATATATATATA T	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02723.hp1 NA18970.hp1 others(4): Show HG00609.hp2 HG02723.hp1 NA18970.hp1 NA18971.hp1 NA19060.hp1 NA19077.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0178 a0001c0001t0002g0028 a0001c0001t0002g0045 others(4): Show a0001c0001t0001g0178 a0001c0001t0002g0028 a0001c0001t0002g0045 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0080 a0001c0001t0002g0081	7	82	0.0854	35	c.64 others(46): Show c.6499_*6500insAAAAAAAAAAAAAAAAAATATATATATATATATA T	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	76	0.0132	35	c.64 others(46): Show c.6499_*6500insAAAAAAAAAAAAAAAATATATATATATATATATA T	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRG1_chr8_32543311_32779046	32582069	C C	CTATTTTA others(28): Show CTATTTTATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01168.hp2 others(10): Show HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01346.hp2 HG01358.hp2 HG02109.hp1 HG02896.hp2 HG02897.hp2 HG03239.hp2 HG03471.hp2 HG03492.hp1 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0013	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0009c0009 a0013c0019	a0001c0001t0012 a0001c0001t0034 a0001c0001t0096 others(7): Show a0001c0001t0012 a0001c0001t0034 a0001c0001t0096 a0001c0001t0105 a0001c0001t0119 a0002c0002t0098 a0004c0004t0013 a0009c0009t0002 a0009c0009t0028 a0013c0019t0004	a0001c0001t0012g0088 a0001c0001t0012g0089 a0001c0001t0034g0095 others(10): Show a0001c0001t0012g0088 a0001c0001t0012g0089 a0001c0001t0034g0095 a0001c0001t0034g0101 a0001c0001t0096g0125 a0001c0001t0105g0090 a0001c0001t0119g0097 a0002c0002t0098g0108 a0004c0004t0013g0119 a0004c0004t0013g0124 a0009c0009t0002g0094 a0009c0009t0028g0091 a0013c0019t0004g0098	13	28	0.4643	35	c.101 others(54): Show c.101-13733_101-13732insATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG1_chr8_32543311_32779046	32634099	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG04228.hp2 NA18954.hp1 HG02523.hp1 HG04228.hp2 NA18954.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0068 a0003c0003t0129 a0002c0002t0002 a0002c0002t0068 a0003c0003t0129	a0002c0002t0002g0203 a0002c0002t0068g0070 a0003c0003t0129g0111 a0002c0002t0002g0203 a0002c0002t0068g0070 a0003c0003t0129g0111	3	111	0.0270	35	c.502 others(54): Show c.502+17233_502+17234insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG2_chr5_139841781_140048299	140029687	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19240.hp1 HG03579.hp1 NA19240.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0003 a0004c0006t0001 a0002c0002t0003 a0004c0006t0001	a0002c0002t0003g0167 a0004c0006t0001g0121 a0002c0002t0003g0167 a0004c0006t0001g0121	2	121	0.0165	35	c.700 others(54): Show c.700+12682_700+12683insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9			chr5	TogoVar
NRXN1_chr2_49913503_51037132	50133277	A A	AGGCCCCC others(28): Show AGGCCCCCAGGGAGCCTTTGTTCCTAGATTAAAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG01099.hp1 others(24): Show HG00609.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02132.hp2 HG02523.hp2 HG02717.hp2 HG03540.hp2 HG03942.hp2 NA18941.hp2 NA18950.hp1 NA18959.hp2 NA18975.hp2 NA19012.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0025 a0001c0001t0039 a0001c0001t0042 a0001c0001t0053 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0064 a0001c0002t0005 a0001c0002t0040 a0001c0002t0049 a0001c0002t0054 a0001c0002t0065 a0001c0005t0030	a0001c0001t0001g0053 a0001c0001t0002g0033 a0001c0001t0002g0035 others(24): Show a0001c0001t0001g0053 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0017 a0001c0001t0006g0032 a0001c0001t0006g0055 a0001c0001t0009g0030 a0001c0001t0011g0064 a0001c0001t0017g0072 a0001c0001t0019g0067 a0001c0001t0022g0004 a0001c0001t0025g0012 a0001c0001t0039g0042 a0001c0001t0042g0043 a0001c0001t0053g0052 a0001c0001t0057g0038 a0001c0001t0058g0074 a0001c0001t0059g0062 a0001c0001t0064g0066 a0001c0002t0005g0086 a0001c0002t0040g0083 a0001c0002t0049g0081 a0001c0002t0054g0096 a0001c0002t0065g0116 a0001c0005t0030g0015	27	116	0.2328	35	c.354 others(56): Show c.3547-41784_3547-41783insCTCTTTAATCTAGGAACAAAGGCT CCCTGGGGGCC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	18/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334192	A A	AATTTTAT others(28): Show AATTTTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	44	0.0227	35	c.336 others(56): Show c.3365-97223_3365-97222insATATATATATATATATATATATAT ATATATAAAAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAGG others(28): Show AAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02280.hp2 NA18975.hp1 HG00609.hp2 HG02280.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0029 a0001c0002t0010 a0001c0004t0007 a0001c0001t0029 a0001c0002t0010 a0001c0004t0007	a0001c0001t0029g0018 a0001c0002t0010g0106 a0001c0004t0007g0094 a0001c0001t0029g0018 a0001c0002t0010g0106 a0001c0004t0007g0094	3	59	0.0508	35	c.336 others(56): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCCTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar

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