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	cds cds pos length	aa aa pos length	distance	status	chr	external
NF1_chr17_31089977_31382675	31127125	AGACTCTC others(39): Show AGACTCTCAGTTCGGCTCTCTCCTCTAGTGCCAGTAATCCACTTGAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0128 a0001c0004t0014g0128	1	250	0.0040	-46	c.61- others(63): Show c.61-28857_61-28812delGACTCTCAGTTCGGCTCTCTCCTCTAGT GCCAGTAATCCACTTGAT		NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	1/57					chr17	TogoVar
NFASC_chr1_204823652_205027822	204877022	ATATATAA others(39): Show ATATATAATATATATTTATATATATATAATATATTTATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18950.hp1 HG01123.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0002c0003t0037 a0001c0001t0009 a0002c0003t0037	a0001c0001t0009g0028 a0002c0003t0037g0073 a0001c0001t0009g0028 a0002c0003t0037g0073	2	220	0.0091	-46	c.-19 others(67): Show c.-199-43603_-199-43558delATATATATTTATATATATATAATA TATTTATTTATATATTTATATA		NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29				INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204877022	ATATATAA others(39): Show ATATATAATATATATTTATATATATATAATATATTTATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0168 a0001c0001t0011g0168	1	258	0.0039	-46	c.-91 others(63): Show c.-91+5959_-91+6004delATATATATTTATATATATATAATATATT TATTTATATATTTATATA		NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27				INFO_REALIGN_3_PRIME	chr1	TogoVar
NFATC1_chr18_79390930_79534323	79488252	GTGTGTGT others(39): Show GTGTGTGTGTTTGCGGTAGTGTGTCCCATGGAGCCCGCAGCCCTGGT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0289 a0001c0010t0004g0289	1	320	0.0031	-46	c.278 others(65): Show c.2782+1325_2782+1370delTTGCGGTAGTGTGTCCCATGGAGCCC GCAGCCCTGGTTGTGTGTGT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr18	TogoVar
NFIA_chr1_61077561_61467788	61200010	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp2 HG03486.hp1 HG02886.hp2 HG02976.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0054 a0001c0002t0018 a0001c0002t0054	a0001c0002t0018g0112 a0001c0002t0018g0115 a0001c0002t0054g0116 a0001c0002t0018g0112 a0001c0002t0018g0115 a0001c0002t0054g0116	3	96	0.0313	-46	c.560 others(65): Show c.560-77498_560-77453delATATATATATATATATATATATATAT ATATATATATATATATATAT		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10				INFO_REALIGN_3_PRIME	chr1	TogoVar
NFILZ_chr19_8625633_8686151	8647749	ACACACAC others(39): Show ACACACACACACACACACACACGCACACATGCGCGCGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0062 a0001c0001t0022g0062	1	364	0.0027	-46	c.-16 others(67): Show c.-164+12025_-164+12070delGCACACATGCGCGCGCGCGCGCGC GCACACACACACACACACACAC		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5				INFO_REALIGN_3_PRIME	chr19	TogoVar
NHERF2_chr16_2021902_2044026	2037004	AGGGTGGG others(39): Show AGGGTGGGGTGCCCATGAGACACAGGGTGCCTCTGGGGGTACCCAGG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0219 a0001c0001t0017g0219	1	420	0.0024	-46	c.792 others(58): Show c.792+7_792+52delGGGTGGGGTGCCCATGAGACACAGGGTGCCTCT GGGGGTACCCAGG		NHERF2	ENSG00000065054.14	transcript	ENST00000424542.7	protein_coding	5/6					chr16	TogoVar
NINJ2_chr12_559296_668445	585474	AGGAAGGG others(39): Show AGGAAGGGAACGGTTGGAGGGAAGGGAAGGGAACGGTTGGAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp1 HG01081.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0002g0128 a0001c0001t0001g0159 a0001c0001t0002g0128	2	150	0.0133	-46	c.34- others(63): Show c.34-19342_34-19297delCTTCCCTCCAACCGTTCCCTTCCCTTCC CTCCAACCGTTCCCTTCC		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3					chr12	TogoVar
NIPA2_chr15_22833666_22873384	22838585	CCCCGGGG others(39): Show CCCCGGGGGCGGGGTGTACGTGGTGCGGCACTGCGCGTGCGCGCGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0269 a0001c0003t0003g0269	1	430	0.0023	-46	c.-68 others(55): Show c.-687_-642delCCCGGGGGCGGGGTGTACGTGGTGCGGCACTGCGCG TGCGCGCGAG		NIPA2	ENSG00000140157.16	transcript	ENST00000337451.8	protein_coding				80		chr15	TogoVar
NKAIN2_chr6_123798865_124830640	123976330	CATATATA others(39): Show CATATATATATATGTTCCCATATATATATATATATATATTCCCATAT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	62	0.0161	-46	c.54+ others(65): Show c.54+172089_54+172134delGTTCCCATATATATATATATATATAT TCCCATATATATATATATAT		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr6	TogoVar
NKX1-1_chr4_1397932_1411442	1397952	CGGGCATC others(39): Show CGGGCATCTGGATGTGAGTAGATCAGGTTGGATACAGGGTGTTTTCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	379	0.0026	-46	c.49 others(57): Show c.4934_*4979delCGAAAACACCCTGTATCCAACCTGATCTACTCAC ATCCAGATGCCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding				4979		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1397960	TGGATGTG others(39): Show TGGATGTGAGTAGATCAGGTTGGATACAGGGTGTTTTCGGGCATCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	380	0.0026	-46	c.49 others(57): Show c.4926_*4971delCAGATGCCCGAAAACACCCTGTATCCAACCTGAT CTACTCACATCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding				4971		chr4	TogoVar
NLRP4_chr19_55831540_55886855	55884726	CTATCTAT others(39): Show CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0029 a0002c0003t0029	a0002c0003t0029g0363 a0002c0003t0029g0363	1	422	0.0024	-46	c.31 others(57): Show c.3140_*3185delTATCTATCTATCTATCTATCTATCTATCTATCTA TCTATCTATCTA		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding				2872		chr19	TogoVar
NME8_chr7_37843597_37905397	37848181	AAGAAGAA others(39): Show AAGAAGAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0063 a0001c0004t0003g0063	1	387	0.0026	-46	c.-78 others(55): Show c.-787_-742delAGAAGAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAA GAAGAAGAAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding				415		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183389806	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	256	0.0039	-46	c.85+ others(63): Show c.85+28331_85+28376delCTTTTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10					chr1	TogoVar
NMRK2_chr19_3928069_3947416	3937233	GTTTCAGC others(39): Show GTTTCAGCCCCAAGACCAAATAGCAGTTGGGGAAGACGGCTTCAAAC	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18954.hp2 NA18954.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0174 a0007c0008t0001g0174	1	402	0.0025	-46	c.118 others(55): Show c.118-6_157delTTTCAGCCCCAAGACCAAATAGCAGTTGGGGAAGAC GGCTTCAAAC	p.Pro others(4): Show p.Pro40fs	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/8	118/693	40/230			chr19	TogoVar
NMRK2_chr19_3928069_3947416	3937320	ATCCCCCG others(39): Show ATCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(263): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0003c0011 a0004c0007 a0005c0009 a0006c0010 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0013t0001 a0001c0014t0001 a0003c0011t0006 a0004c0007t0001 a0005c0009t0002 a0006c0010t0001 a0008c0012t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0008 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0036 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0003t0001g0005 a0001c0003t0001g0007 a0001c0003t0001g0022 a0001c0003t0001g0177 a0001c0003t0001g0191 a0001c0005t0001g0001 a0001c0005t0001g0014 a0001c0013t0001g0058 a0001c0014t0001g0207 a0003c0011t0006g0103 a0004c0007t0001g0011 a0004c0007t0001g0036 a0005c0009t0002g0079 a0006c0010t0001g0001 a0008c0012t0007g0104	266	395	0.6734	-46	c.166 others(61): Show c.166+177_166+222delGGGGTCCGCCCTCCTGCAATGCCCGCTCCC CCTCCACTATTCCCCC		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3937465	GGGGTCCG others(39): Show GGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00741.hp1 others(9): Show HG00280.hp1 HG00642.hp1 HG00741.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG01993.hp2 HG02074.hp1 HG06807.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0167 others(8): Show a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0167 a0001c0001t0001g0194 a0001c0001t0002g0027 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0072	12	346	0.0347	-46	c.166 others(61): Show c.166+223_166+268delAGGGTCCGCCCTCCTGCAATGCCCGCTCCC CCTCCACTATTCCCCC		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3937733	TCCCCCGG others(39): Show TCCCCCGGGGTCCGCCCTCCTGCAATACCCGCTCCCCGTCCACTGTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00741.hp1 others(7): Show HG00280.hp1 HG00642.hp1 HG00741.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG06807.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0002g0027 a0001c0001t0002g0063 others(6): Show a0001c0001t0001g0082 a0001c0001t0002g0027 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0072	10	351	0.0285	-46	c.166 others(61): Show c.166+517_166+562delACCCGCTCCCCGTCCACTGTCCCCCCGGGG TCCGCCCTCCTGCAAT		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3938000	CTCCACTG others(39): Show CTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp2 HG02258.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	2	402	0.0050	-46	c.167 others(61): Show c.167-582_167-537delTGCCCTCCTGCAATACCTGCTCCCCGTCCA CTGTCCCCCCGGGGTC		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3938022	GCCCTCCT others(39): Show GCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0064 a0001c0001t0002g0027 a0001c0001t0002g0064	3	401	0.0075	-46	c.167 others(61): Show c.167-548_167-503delCCCCCCGGGGTCCACCCTCCTGCAATACCT GCTCCCCGTCCACTGT		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr19	TogoVar
NOL4L_chr20_32438059_32590333	32488770	CCTTCCTT others(39): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02818.hp2 HG02486.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0128 a0001c0001t0004g0196 a0001c0001t0003g0128 a0001c0001t0004g0196	2	189	0.0106	-46	c.700 others(65): Show c.700-14074_700-14029delAAAGAAAGAAAAAGAAAGAAAGAAAG GAAGGAAGGAAGGAAGGAAG		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10					chr20	TogoVar
NOTCH3_chr19_15154038_15205995	15173732	AAAAAAAA others(39): Show AAAAAAAAAAGAAAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02145.hp2 HG02559.hp1 others(3): Show HG00099.hp2 HG02145.hp2 HG02559.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0001c0009 a0019c0049 a0001c0001 a0001c0009 a0019c0049	a0001c0001t0001 a0001c0009t0001 a0019c0049t0001 a0001c0001t0001 a0001c0009t0001 a0019c0049t0001	a0001c0001t0001g0042 a0001c0001t0001g0244 a0001c0001t0001g0245 others(3): Show a0001c0001t0001g0042 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0259 a0001c0009t0001g0053 a0019c0049t0001g0011	6	323	0.0186	-46	c.473 others(63): Show c.4736+290_4736+335delCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTTTCTTTTTTTTT		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32					chr19	TogoVar
NOVA2_chr19_45928734_45978865	45950281	CCTGAATA others(39): Show CCTGAATAGCTGAGACTACAGGTGTGCACCACCATGCCCGGCTAATT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	400	0.0025	-46	c.396 others(63): Show c.396+3453_396+3498delAATTAGCCGGGCATGGTGGTGCACACCT GTAGTCTCAGCTATTCAG		NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding	3/3					chr19	TogoVar
NPAS3_chr14_32933879_33809173	33543957	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0055 a0001c0001t0026g0055	1	90	0.0111	-46	c.469 others(65): Show c.469-16158_469-16113delATATATATATATATATATATATATAT ATATATATATATATCTATAT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11				INFO_REALIGN_3_PRIME	chr14	TogoVar
NPFFR2_chr4_72027000_72153305	72030492	TTTTAGTG others(39): Show TTTTAGTGGTGGTGGAATGGTAGGGGTGGGGAGCAGGAGAATAGTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	342	0.0029	-46	c.-17 others(57): Show c.-1715_-1670delTTTAGTGGTGGTGGAATGGTAGGGGTGGGGAGCA GGAGAATAGTTC		NPFFR2	ENSG00000056291.19	transcript	ENST00000308744.12	protein_coding				1507		chr4	TogoVar
NR1H2_chr19_50371457_50388388	50375352	GGTGATCT others(39): Show GGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02976.hp1 HG03195.hp1 others(1): Show HG02896.hp2 HG02976.hp1 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	4	372	0.0108	-46	c.-13 others(57): Show c.-1351_-1306delGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGT		NR1H2	ENSG00000131408.15	transcript	ENST00000253727.10	protein_coding				1104		chr19	TogoVar
NR4A3_chr9_99816885_99871891	99866121	CATTAATT others(39): Show CATTAATTTTTTGAGCTTATATGCAAACATAATAAATATTATTAAAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0071 a0001c0001t0010g0071	1	276	0.0036	-46	c.22 others(57): Show c.2257_*2302delTAATTTTTTGAGCTTATATGCAAACATAATAAAT ATTATTAAATAT		NR4A3	ENSG00000119508.18	transcript	ENST00000395097.7	protein_coding	8/8			2257	INFO_REALIGN_3_PRIME	chr9	TogoVar
NRF1_chr7_129606720_129762076	129761283	AACCATTC others(39): Show AACCATTCAGAGGACAAAACTGCACATCAGGATTATAAAGTAACCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	382	0.0026	-46	c.61 others(57): Show c.6103_*6148delACCATTCAGAGGACAAAACTGCACATCAGGATTA TAAAGTAACCTC		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding				4208		chr7	TogoVar
NRXN1_chr2_49913503_51037132	50329605	GTGTGTGT others(39): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0061 a0001c0001t0036g0061	1	115	0.0087	-46	c.336 others(67): Show c.3365-92681_3365-92636delTATATATATATATATATATATATA TATATATATACACACACACACA		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22					chr2	TogoVar
NRXN3_chr14_78165373_79873291	79754503	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0011 a0001c0002t0015g0011	1	6	0.1667	-46	c.401 others(67): Show c.4015-50594_4015-50549delATATATATATATATATATATATAT ATATATATATATATATATATAT		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20				INFO_REALIGN_3_PRIME	chr14	TogoVar
NSL1_chr1_212721153_212796777	212725034	CGCCCCGT others(39): Show CGCCCCGTCCGGGAGGGAGGTGGGGGGCAGCCCCCGCCCGGCCAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02895.hp1 others(3): Show HG01891.hp2 HG02109.hp1 HG02895.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0026 a0002c0002t0093 a0002c0002t0094 others(1): Show a0002c0002t0026 a0002c0002t0093 a0002c0002t0094 a0002c0004t0095	a0002c0002t0026g0119 a0002c0002t0026g0120 a0002c0002t0026g0121 others(3): Show a0002c0002t0026g0119 a0002c0002t0026g0120 a0002c0002t0026g0121 a0002c0002t0093g0118 a0002c0002t0094g0117 a0002c0004t0095g0015	6	361	0.0166	-46	c.13 others(59): Show c.13328_*13373delAGCTGGCCGGGCGGGGGCTGCCCCCCACCTCC CTCCCGGACGGGGC		NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding				1118		chr1	TogoVar
NTNG2_chr9_132157058_132249526	132174071	CGGACAGA others(39): Show CGGACAGACGGACAGATAGGCAGGCCGCACCATGCTGCGGATGAGAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG03041.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0001t0043 a0001c0002t0042 a0001c0001t0041 a0001c0001t0043 a0001c0002t0042	a0001c0001t0041g0213 a0001c0001t0043g0212 a0001c0002t0042g0240 a0001c0001t0041g0213 a0001c0001t0043g0212 a0001c0002t0042g0240	3	356	0.0084	-46	c.213 others(63): Show c.213+7073_213+7118delTGGACAGACGGACAGATAGGCAGGCCGC ACCATGCTGCGGATGAGA		NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	2/7				INFO_REALIGN_3_PRIME	chr9	TogoVar
NUMB_chr14_73270216_73463546	73352473	CACACATA others(39): Show CACACATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG03453.hp1 HG02723.hp1 HG02970.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0152 a0001c0001t0002g0250 a0001c0001t0002g0254	3	232	0.0129	-46	c.126 others(63): Show c.126+3107_126+3152delATATATATATATATATATATATATATAT ATATATATATATATGTGT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12					chr14	TogoVar
NUP85_chr17_75200679_75240758	75212228	GGTTTTTT others(39): Show GGTTTTTTTTTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0195 a0001c0003t0002g0195	1	60	0.0167	-46	c.361 others(61): Show c.361+167_361+212delGTTTTTTTTTTTGTTGTTGTTTTTTTTTTT TTTTTTTTTTTTTTTT		NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	4/18					chr17	TogoVar
NUP93_chr16_56725129_56855286	56842086	CTAATTTC others(39): Show CTAATTTCTAGTTGACTCCATAAGAACTTCCTGCACATTTTAAAAGA	C C	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	376	0.0027	-46	c.234 others(63): Show c.2349+257_2349+302delTTTCTAGTTGACTCCATAAGAACTTCCT GCACATTTTAAAAGATAA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	21/21				INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	806106	ACTGCAGC others(39): Show ACTGCAGCCCCCGCCGTCTGCACCCCAGCCCTCCCCGCTCCCCAGGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	239	0.0042	-46	c.821 others(61): Show c.821-905_821-860delCCCTGGGGAGCGGGGAGGGCTGGGGTGCAG ACGGCGGGGGCTGCAG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7					chr17	TogoVar
NXN_chr17_794310_984776	806142	GCTCCCCA others(39): Show GCTCCCCAGGGCTGCAGCCCCCGCCGTCTGCACCCCAGCACAACCCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00673.hp1 others(48): Show HG00099.hp2 HG00323.hp1 HG00673.hp1 HG00741.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01891.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18973.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0003c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0033 a0001c0003t0001 a0001c0003t0007 a0001c0008t0013 a0003c0010t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(48): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0006g0202 a0001c0001t0007g0023 a0001c0001t0007g0040 a0001c0001t0007g0073 a0001c0001t0008g0176 a0001c0001t0008g0192 a0001c0001t0010g0003 a0001c0001t0011g0013 a0001c0001t0011g0174 a0001c0001t0012g0018 a0001c0001t0012g0066 a0001c0001t0013g0220 a0001c0001t0021g0019 a0001c0001t0024g0011 a0001c0001t0026g0173 a0001c0001t0032g0242 a0001c0001t0033g0241 a0001c0003t0001g0235 a0001c0003t0007g0233 a0001c0008t0013g0196 a0003c0010t0001g0236	51	231	0.2208	-46	c.821 others(61): Show c.821-941_821-896delGGGGTTGTGCTGGGGTGCAGACGGCGGGGG CTGCAGCCCTGGGGAG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7					chr17	TogoVar
OLA1_chr2_174067447_174253532	174163707	AATAAATA others(39): Show AATAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0057 a0001c0001t0016g0057	1	229	0.0044	-46	c.374 others(65): Show c.374-21753_374-21708delATATATATATATATATATATATATAT ATATATATATATATATTTAT		OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10					chr2	TogoVar
OPCML_chr11_132409981_133537501	132687369	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG03098.hp2 others(1): Show HG01884.hp2 HG02258.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0019 others(1): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0019 a0001c0001t0031	a0001c0001t0006g0037 a0001c0001t0017g0052 a0001c0001t0019g0051 others(1): Show a0001c0001t0006g0037 a0001c0001t0017g0052 a0001c0001t0019g0051 a0001c0001t0031g0062	4	7	0.5714	-46	c.147 others(65): Show c.147-30096_147-30051delATATATATATATATATATATATATAT ATATATATATATATATATAT		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	2/7					chr11	TogoVar
OPRL1_chr20_64075082_64105633	64094413	GGGGGCAG others(39): Show GGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGGGGGCAGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0019 a0001c0006t0005g0019	1	64	0.0156	-46	c.233 others(63): Show c.233+1464_233+1509delGCAGTGTGGGGGGCAGTGTGGGGGCAGT GTGGGGGCAGTGTGTGGG		OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4				INFO_REALIGN_3_PRIME	chr20	TogoVar
OR10G3_chr14_21563520_21585076	21576848	AACCATCT others(39): Show AACCATCTTAAAGGGAGGAATGAGAGGAAAGAGTGCAGTTTTATTTG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0107 a0001c0003t0004g0107	1	440	0.0023	-46	c.-18 others(63): Show c.-18+2892_-18+2937delCAAATAAAACTGCACTCTTTCCTCTCAT TCCTCCCTTTAAGATGGT		OR10G3	ENSG00000169208.3	transcript	ENST00000641040.1	protein_coding	1/1					chr14	TogoVar
OR14A16_chr1_247809660_247829119	247825927	TGTATATA others(39): Show TGTATATATATGTGTATATATATGTGTGTGTATATATATACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG03516.hp1 HG01433.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0013 a0001c0008t0002g0013	3	340	0.0088	-46	c.-21 others(57): Show c.-2151_-2106delGTGTGTGTATATATATACACACACATATATATAC ACATATATATAC		OR14A16	ENSG00000196772.5	transcript	ENST00000641093.1	protein_coding				1809		chr1	TogoVar
OR1A1_chr17_3202667_3223896	3221593	TATATATT others(39): Show TATATATTATATAATATATTATATAATATATTATTATATATTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02622.hp2 others(3): Show HG01243.hp1 HG01891.hp1 HG02622.hp2 HG02647.hp2 HG02895.hp2 HG06807.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0010 a0004c0006t0006g0010	6	431	0.0139	-46	c.50 others(57): Show c.5044_*5089delATATATTATATAATATATTATATAATATATTATT ATATATTATATA		OR1A1	ENSG00000172146.4	transcript	ENST00000641732.2	protein_coding				2698		chr17	TogoVar
OR2B11_chr1_247444182_247463104	247461426	GCTTGGTG others(39): Show GCTTGGTGTGAACTGGGGGGGTTCCCTGTGGAGAAGGCAGGCGTGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0057 a0006c0008t0002g0057	1	476	0.0021	-46	c.-69 others(57): Show c.-6916_-6871delATCACGCCTGCCTTCTCCACAGGGAACCCCCCCA GTTCACACCAAG		OR2B11	ENSG00000177535.10	transcript	ENST00000641149.2	protein_coding				3323		chr1	TogoVar
OR2C3_chr1_247519677_247541440	247522226	CAGCCGCC others(39): Show CAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGCAGCCCCCACCCGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00738.hp1 others(38): Show HG00099.hp1 HG00323.hp2 HG00738.hp1 HG01074.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03710.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18964.hp2 NA18983.hp1 NA18998.hp2 NA19043.hp2 NA19075.hp2 NA19079.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 others(10): Show a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0001t0027 a0001c0001t0038 a0001c0001t0044 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0100 a0001c0001t0102	a0001c0001t0007g0009 a0001c0001t0007g0046 a0001c0001t0007g0064 others(16): Show a0001c0001t0007g0009 a0001c0001t0007g0046 a0001c0001t0007g0064 a0001c0001t0015g0015 a0001c0001t0015g0172 a0001c0001t0016g0013 a0001c0001t0026g0031 a0001c0001t0026g0177 a0001c0001t0027g0024 a0001c0001t0038g0075 a0001c0001t0038g0077 a0001c0001t0044g0174 a0001c0001t0044g0176 a0001c0001t0073g0121 a0001c0001t0074g0122 a0001c0001t0075g0123 a0001c0001t0076g0124 a0001c0001t0100g0173 a0001c0001t0102g0175	41	458	0.0895	-46	c.92 others(57): Show c.9277_*9322delAGCCGGGTGGGGGCTGCCCCCCACCTCCCTCCCG GACAGGGCGGCT		OR2C3	ENSG00000196242.10	transcript	ENST00000641802.1	protein_coding				2450		chr1	TogoVar
OR2M3_chr1_248192265_248217925	248213407	ATATATAT others(39): Show ATATATATATATATATATGTATATATATATATGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp1 others(1): Show HG01109.hp2 HG01884.hp1 HG02055.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0004 a0004c0007t0034 a0001c0001t0004 a0004c0007t0034	a0001c0001t0004g0001 a0004c0007t0034g0030 a0001c0001t0004g0001 a0004c0007t0034g0030	4	405	0.0099	-46	c.94 others(57): Show c.9402_*9447delTATATATATATATATATGTATATATATATATGTA TATATATATATG		OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding				483		chr1	TogoVar
OR2M3_chr1_248192265_248217925	248213489	ATATATGT others(39): Show ATATATGTATATATATATTTATATATATATATGTATATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02148.hp2 HG02451.hp2 others(2): Show HG01358.hp1 HG02148.hp2 HG02451.hp2 HG02486.hp1 NA18952.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0009 a0005c0011 a0001c0001 a0001c0009 a0005c0011	a0001c0001t0001 a0001c0001t0017 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0009t0001 a0005c0011t0068	a0001c0001t0001g0001 a0001c0001t0017g0001 a0001c0009t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0017g0001 a0001c0009t0001g0001 a0005c0011t0068g0027	5	407	0.0123	-46	c.94 others(57): Show c.9484_*9529delTATATGTATATATATATTTATATATATATATGTA TATATATATATT		OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding				565		chr1	TogoVar
OR4M2_chr15_22075527_22086610	22084716	CATATATA others(39): Show CATATATATGTATATAGATATACACACATATATATGTATATAGATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG03492.hp2 others(2): Show HG00423.hp1 HG00544.hp1 HG03492.hp2 NA18951.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	32	0.1563	-46	c.31 others(57): Show c.3151_*3196delATATATATGTATATAGATATACACACATATATAT GTATATAGATAT		OR4M2	ENSG00000274102.3	transcript	ENST00000614722.3	protein_coding				3107		chr15	TogoVar
OR4M2_chr15_22075527_22086610	22084724	TGTATATA others(39): Show TGTATATAGATATACACACATATATATGTATATAGATATACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	50	0.0200	-46	c.31 others(57): Show c.3159_*3204delGTATATAGATATACACACATATATATGTATATAG ATATACACACAC		OR4M2	ENSG00000274102.3	transcript	ENST00000614722.3	protein_coding				3115		chr15	TogoVar

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