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
NELL2_chr12_44503278_44881315	44566566	C C	CACACACA others(15): Show CACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	158	0.0063	22	c.166 others(43): Show c.1664-33846_1664-33845insCTCTCTGTGTGTGTGTGTGTGT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	158	0.0063	22	c.166 others(43): Show c.1663+19884_1663+19885insATATATTTTTTTTTTTTTTTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 NA18982.hp1 others(1): Show HG01081.hp2 HG01099.hp2 NA18982.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0087 a0001c0001t0001g0147 a0001c0001t0003g0069 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0147 a0001c0001t0003g0069 a0001c0001t0005g0027	4	158	0.0253	22	c.166 others(43): Show c.1663+19884_1663+19885insATATATATATTTTTTTTTTTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0005 a0003c0003t0004g0005	1	158	0.0063	22	c.166 others(43): Show c.1663+19884_1663+19885insATATATATATATATTTTTTTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44644582	A A	ATATATAT others(15): Show ATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0151 a0001c0001t0011g0151	1	158	0.0063	22	c.144 others(43): Show c.1444+20901_1444+20902insCATACATATATATATATATATA	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	13/19			chr12	TogoVar
NEMF_chr14_49777083_49857788	49806230	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0218 a0002c0003t0004g0218	1	222	0.0045	22	c.174 others(37): Show c.1745-98_1745-97insTATATATATATATATATATATA	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEMF_chr14_49777083_49857788	49806232	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01361.hp2 HG01496.hp2 others(2): Show HG00558.hp2 HG01361.hp2 HG01496.hp2 HG02080.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0043 a0001c0001t0001g0093 a0001c0001t0002g0022 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0093 a0001c0001t0002g0022 a0001c0001t0002g0139 a0001c0005t0001g0140	5	222	0.0225	22	c.174 others(39): Show c.1745-121_1745-100dupTATATATATATATATATATATA	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEMF_chr14_49777083_49857788	49806232	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	222	0.0045	22	c.174 others(38): Show c.1745-100_1745-99insTATATATATATATATATATACA	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18945.hp1 NA18961.hp1 others(3): Show HG02717.hp2 NA18945.hp1 NA18961.hp1 NA18995.hp2 NA19012.hp2 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0024 a0004c0017 a0001c0001 a0001c0024 a0004c0017	a0001c0001t0003 a0001c0024t0003 a0004c0017t0003 a0001c0001t0003 a0001c0024t0003 a0004c0017t0003	a0001c0001t0003g0215 a0001c0001t0003g0228 a0001c0001t0003g0231 others(3): Show a0001c0001t0003g0215 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0024t0003g0230 a0004c0017t0003g0223	6	324	0.0185	22	c.209 others(41): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01358.hp1 HG02071.hp2 others(9): Show HG00423.hp2 HG01358.hp1 HG02071.hp2 HG02486.hp2 HG02602.hp2 NA18948.hp1 NA18953.hp1 NA18965.hp2 NA18970.hp2 NA19012.hp1 NA19067.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0130 a0001c0001t0002g0139 others(9): Show a0001c0001t0002g0042 a0001c0001t0002g0130 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0002g0239 a0001c0001t0002g0275	12	324	0.0370	22	c.390 others(41): Show c.3901+1595_3901+1596insATATATATATATATATATATAT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NETO1_chr18_72738756_72872987	72741178	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	348	0.0029	22	c.70 others(33): Show c.7000_*7001insAAAAAAAAAAAAAAAAAAAAAA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding		2577		chr18	TogoVar
NETO1_chr18_72738756_72872987	72751050	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp2 NA18948.hp1 others(4): Show HG03195.hp1 HG03195.hp2 NA18948.hp1 NA18981.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0031 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0031 a0004c0004t0001	a0001c0001t0003g0029 a0001c0001t0003g0181 a0001c0001t0004g0088 others(4): Show a0001c0001t0003g0029 a0001c0001t0003g0181 a0001c0001t0004g0088 a0001c0001t0004g0141 a0001c0001t0004g0155 a0001c0001t0031g0136 a0004c0004t0001g0236	7	348	0.0201	22	c.983 others(37): Show c.983-452_983-431dupGTGTGTGTGTGTGTGTGTGTGT	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	8/10			chr18	TogoVar
NETO1_chr18_72738756_72872987	72758385	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0111 a0001c0001t0025g0111	1	348	0.0029	22	c.869 others(39): Show c.869-2260_869-2239dupCACACACACACACACACACACA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NETO1_chr18_72738756_72872987	72761073	C C	CATAAAAT others(15): Show CATAAAATGTTAAGATGTATGAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02630.hp2 others(18): Show HG02257.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 NA18940.hp1 NA18944.hp1 NA18972.hp2 NA18993.hp1 NA19030.hp2 NA19056.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0001t0041	a0001c0001t0001g0282 a0001c0001t0004g0063 a0001c0001t0007g0002 others(17): Show a0001c0001t0001g0282 a0001c0001t0004g0063 a0001c0001t0007g0002 a0001c0001t0007g0037 a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0072 a0001c0001t0007g0078 a0001c0001t0007g0127 a0001c0001t0007g0152 a0001c0001t0007g0315 a0001c0001t0008g0329 a0001c0001t0013g0055 a0001c0001t0013g0103 a0001c0001t0013g0134 a0001c0001t0016g0179 a0001c0001t0016g0228 a0001c0001t0023g0028 a0001c0001t0025g0111 a0001c0001t0041g0216	21	348	0.0603	22	c.869 others(39): Show c.869-4948_869-4927dupATCATACATCTTAACATTTTAT	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NETO1_chr18_72738756_72872987	72772825	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	348	0.0029	22	c.868 others(41): Show c.868+10852_868+10853insTATATATATATAGAGAGAGAGA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NEURL1B_chr5_172636263_172696540	172667275	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0314 a0001c0004t0008g0314	1	392	0.0026	22	c.32- others(37): Show c.32-2489_32-2488insAAAAAAAAAAAAAAAAAAAAAA	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1_chr10_103488705_103597546	103596663	A A	ACACACAC others(15): Show ACACACACACACACACACACTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01346.hp1 HG03490.hp2 others(1): Show HG01261.hp1 HG01346.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0203 a0001c0002t0004g0204 a0001c0002t0004g0240 others(1): Show a0001c0002t0004g0203 a0001c0002t0004g0204 a0001c0002t0004g0240 a0001c0002t0004g0245	4	312	0.0128	22	c.62 others(33): Show c.6291_*6292insCACACACACACACACACACTCT	NEURL1	ENSG00000107954.11	transcript	ENST00000369780.9	protein_coding		4118		chr10	TogoVar
NEURL1_chr10_103488705_103597546	103596663	A A	ACACACAC others(15): Show ACACACACACACACACACTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG02083.hp1 others(4): Show HG00408.hp1 HG00438.hp2 HG02083.hp1 HG02895.hp2 NA19002.hp1 NA19054.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0004 a0001c0001t0017 a0001c0002t0004	a0001c0001t0017g0032 a0001c0002t0004g0066 a0001c0002t0004g0210 others(4): Show a0001c0001t0017g0032 a0001c0002t0004g0066 a0001c0002t0004g0210 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0247 a0001c0002t0004g0248	7	312	0.0224	22	c.62 others(33): Show c.6291_*6292insCACACACACACACACACTCTCT	NEURL1	ENSG00000107954.11	transcript	ENST00000369780.9	protein_coding		4118		chr10	TogoVar
NEURL1_chr10_103488705_103597546	103596663	A A	ACACACAC others(15): Show ACACACACACACACACTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0037 a0001c0002t0004g0037	1	312	0.0032	22	c.62 others(33): Show c.6291_*6292insCACACACACACACACTCTCTCT	NEURL1	ENSG00000107954.11	transcript	ENST00000369780.9	protein_coding		4118		chr10	TogoVar
NEURL1_chr10_103488705_103597546	103596685	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01891.hp1 HG02738.hp1 others(4): Show HG00642.hp1 HG01891.hp1 HG02738.hp1 NA18963.hp2 NA18970.hp2 NA18982.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 others(2): Show a0001c0001 a0002c0003 a0002c0004 a0002c0006 a0002c0012	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0002c0006t0001 a0002c0012t0009	a0001c0001t0001g0025 a0001c0001t0001g0088 a0002c0003t0001g0183 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0088 a0002c0003t0001g0183 a0002c0003t0001g0195 a0002c0004t0001g0188 a0002c0006t0001g0036 a0002c0012t0009g0307	7	312	0.0224	22	c.63 others(33): Show c.6313_*6314insCTCTCTCTCTCTCTCTCTCTCA	NEURL1	ENSG00000107954.11	transcript	ENST00000369780.9	protein_coding		4140		chr10	TogoVar
NEURL3_chr2_96492646_96510357	96504877	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02132.hp1 NA18954.hp2 others(1): Show HG02040.hp2 HG02132.hp1 NA18954.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0018 a0001c0001t0005g0093 a0001c0001t0001g0018 a0001c0001t0005g0093	4	394	0.0102	22	c.28+ others(35): Show c.28+360_28+381dupTTTTTTTTTTTTTTTTTTTTTT	NEURL3	ENSG00000163121.10	transcript	ENST00000451794.6	protein_coding	1/3			chr2	TogoVar
NEUROD6_chr7_31332465_31345726	31334302	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA19030.hp1 HG02970.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0003 a0001c0001t0001g0005	2	414	0.0048	22	c.39 others(33): Show c.3952_*3953insAAGAAAGAAAGAAAGAAAGAAA	NEUROD6	ENSG00000164600.7	transcript	ENST00000297142.4	protein_coding		3162		chr7	TogoVar
NEXN_chr1_77883624_77948895	77887975	C C	CTTCTTCT others(15): Show CTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	268	0.0037	22	c.-83 others(31): Show c.-837_-836insTTCTTCTTCTTCTTCTTCTTCT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		648		chr1	TogoVar
NEXN_chr1_77883624_77948895	77887978	C C	CTTCTTCT others(15): Show CTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	268	0.0037	22	c.-83 others(31): Show c.-834_-833insTTCTTCTTCTTCTTCTTCTTCT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		645		chr1	TogoVar
NF1_chr17_31089977_31382675	31226318	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02129.hp2 NA18992.hp1 HG01891.hp1 HG02129.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0060 a0001c0001t0001g0085 a0001c0001t0005g0005 a0001c0001t0001g0060 a0001c0001t0001g0085 a0001c0001t0005g0005	3	252	0.0119	22	c.200 others(37): Show c.2002-97_2002-76dupCACACACACACACACACACACA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	17/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31243184	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(54): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01346.hp2 HG02055.hp1 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02559.hp1 HG02559.hp2 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03654.hp1 HG03831.hp2 HG03834.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18974.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19070.hp2 NA19074.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0024 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0025 a0001c0003t0003 a0001c0003t0017 a0001c0005t0003 a0001c0005t0011 a0001c0009t0001 a0001c0010t0011 a0001c0010t0026 a0001c0024t0007 a0002c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 others(54): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0001t0001g0151 a0001c0001t0003g0024 a0001c0001t0003g0100 a0001c0001t0003g0115 a0001c0001t0007g0047 a0001c0001t0007g0079 a0001c0001t0010g0059 a0001c0001t0025g0042 a0001c0003t0003g0007 a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0011 a0001c0003t0003g0033 a0001c0003t0003g0043 a0001c0003t0003g0048 a0001c0003t0017g0010 a0001c0005t0003g0209 a0001c0005t0003g0211 a0001c0005t0003g0212 a0001c0005t0011g0159 a0001c0009t0001g0122 a0001c0010t0011g0169 a0001c0010t0026g0224 a0001c0024t0007g0012 a0002c0006t0001g0055 a0002c0006t0001g0069	57	252	0.2262	22	c.397 others(41): Show c.3975-5792_3975-5771dupGTGTGTGTGTGTGTGTGTGTGT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	29/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31293178	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0159 a0001c0005t0011g0159	1	252	0.0040	22	c.483 others(43): Show c.4835+27851_4835+27872dupAAAAAAAAAAAAAAAAAAAAAA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	36/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFAM1_chr22_42375407_42437403	42379487	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG06807.hp1 NA18993.hp2 HG01070.hp2 HG06807.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0012 a0002c0004t0023 a0001c0002t0012 a0002c0004t0023	a0001c0002t0012g0011 a0001c0002t0012g0234 a0002c0004t0023g0358 a0001c0002t0012g0011 a0001c0002t0012g0234 a0002c0004t0023g0358	3	384	0.0078	22	c.56 others(33): Show c.5673_*5674insTGTGTGTGTGTGTGTGTGTGTG	NFAM1	ENSG00000235568.7	transcript	ENST00000329021.10	protein_coding		919		chr22	TogoVar
NFASC_chr1_204823652_205027822	204984380	C C	CGCATATA others(15): Show CGCATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0036 a0001c0001t0051g0036	1	226	0.0044	22	c.247 others(41): Show c.2470+2361_2470+2382dupGCATATATATATATATATATAT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204984380	C C	CGCATATA others(15): Show CGCATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0207 a0001c0001t0054g0207	1	264	0.0038	22	c.261 others(39): Show c.2619+239_2619+260dupGCATATATATATATATATATAT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFAT5_chr16_69560966_69709654	69568342	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0340 a0001c0001t0011g0340	1	380	0.0026	22	c.74- others(35): Show c.74-152_74-151insGTGTGTGTGTGTGTGTGTGTGT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69568346	A A	ATATATAT others(15): Show ATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	380	0.0026	22	c.74- others(35): Show c.74-148_74-147insATATATGTGTGTGTGTGTGTGT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69568346	A A	ATATATGT others(15): Show ATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03239.hp1 HG00323.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0024 a0001c0001t0001g0025	2	380	0.0053	22	c.74- others(35): Show c.74-148_74-147insATATGTGTGTGTGTGTGTGTGT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69568346	A A	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA19055.hp1 HG03490.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	380	0.0053	22	c.74- others(35): Show c.74-148_74-147insATGTGTGTGTGTGTGTGTGTGT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69568346	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19056.hp2 NA18944.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	380	0.0053	22	c.74- others(35): Show c.74-139_74-118dupGTGTGTGTGTGTGTGTGTGTGT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0235 a0001c0001t0019g0235	1	380	0.0026	22	c.177 others(41): Show c.1775-2735_1775-2714dupAAAAAAAAAAAAAAAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79425179	C C	CTCTGTCT others(15): Show CTCTGTCTCTGTCTCTGTGTCTG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0060 a0002c0002t0060	a0002c0002t0060g0070 a0002c0002t0060g0070	1	322	0.0031	22	c.122 others(41): Show c.1227-8385_1227-8384insGTGTCTGTCTGTCTCTGTCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79425258	C C	CCTGTCTC others(15): Show CCTGTCTCTGTCTCTCTGTTTCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0041 a0001c0054t0041	a0001c0054t0041g0007 a0001c0054t0041g0007	1	322	0.0031	22	c.122 others(41): Show c.1227-8305_1227-8304insGTTTCTCTGTCTCTGTCTCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79464680	G G	GTGTACGT others(15): Show GTGTACGTATATATATACACACA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02647.hp1 NA18962.hp2 others(3): Show HG02027.hp2 HG02647.hp1 NA18962.hp2 NA18966.hp1 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0003 a0002c0002t0010 a0002c0002t0013 others(2): Show a0002c0002t0003 a0002c0002t0010 a0002c0002t0013 a0002c0011t0002 a0002c0011t0026	a0002c0002t0003g0142 a0002c0002t0010g0265 a0002c0002t0013g0191 others(3): Show a0002c0002t0003g0142 a0002c0002t0010g0265 a0002c0002t0013g0191 a0002c0011t0002g0052 a0002c0011t0002g0053 a0002c0011t0026g0281	6	322	0.0186	22	c.196 others(41): Show c.1960-2766_1960-2765insCGTATATATATACACACATGTA	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC3_chr16_68080370_68234259	68085211	G G	GGGGGGGG others(15): Show GGGGGGGGGGGGGGGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0181 a0003c0003t0011g0181	1	188	0.0053	22	c.-47 others(31): Show c.-471_-470insGGGGGGGGGGGGGGGGGGGGGC	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding		158		chr16	TogoVar
NFATC3_chr16_68080370_68234259	68104653	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0124 a0001c0001t0009g0124	1	188	0.0053	22	c.104 others(41): Show c.104-17318_104-17317insTTTTTTTTTTTTTTTTTTTTTT	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFE2L1_chr17_48043359_48066545	48047632	A A	ACCGCCAA others(15): Show ACCGCCAACGTTCCGCCAACGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA19030.hp2 NA18962.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0061 a0001c0001t0022g0064 a0001c0001t0003g0061 a0001c0001t0022g0064	2	400	0.0050	22	c.-13 others(33): Show c.-1343_-1342insCCGCCAACGTTCCGCCAACGTT	NFE2L1	ENSG00000082641.16	transcript	ENST00000362042.8	protein_coding		726		chr17	TogoVar
NFE2_chr12_54287111_54306015	54297356	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19062.hp2 HG00423.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0112 a0001c0001t0001g0113	2	346	0.0058	22	c.-56 others(39): Show c.-56-2074_-56-2053dupTTTTTTTTTTTTTTTTTTTTTT	NFE2	ENSG00000123405.14	transcript	ENST00000435572.7	protein_coding	1/2			chr12	TogoVar
NFIA_chr1_61077561_61467788	61319790	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0145 a0001c0002t0044g0145	1	156	0.0064	22	c.626 others(41): Show c.626-12697_626-12676dupACACACACACACACACACACAC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61466738	C C	CACACACA others(15): Show CACACACATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0045 a0001c0001t0022g0045	1	156	0.0064	22	c.11 others(35): Show c.11418_*11419insACACACATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3951		chr1	TogoVar
NFIB_chr9_14076848_14319141	14143991	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02572.hp1 HG02004.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0110 a0001c0001t0006g0071 a0001c0001t0002g0110 a0001c0001t0006g0071	2	304	0.0066	22	c.925 others(39): Show c.925+2676_925+2697dupACACACACACACACACACACAC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	6/10			chr9	TogoVar
NFIC_chr19_3361583_3474217	3363241	G G	GTGTGCGC others(15): Show GTGTGCGCGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 NA18522.hp1 HG02145.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0219 a0001c0001t0242 a0001c0001t0219 a0001c0001t0242	a0001c0001t0219g0038 a0001c0001t0242g0039 a0001c0001t0219g0038 a0001c0001t0242g0039	2	300	0.0067	22	c.-33 others(33): Show c.-3396_-3395insTGTGCGCGTGTGTGTGTGTGTA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding		3341		chr19	TogoVar
NFIC_chr19_3361583_3474217	3371998	C C	CCTCCCTC others(15): Show CCTCCCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18999.hp2 NA19070.hp2 HG00597.hp2 NA18999.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0064 a0001c0001t0093 a0001c0001t0003 a0001c0001t0064 a0001c0001t0093	a0001c0001t0003g0114 a0001c0001t0064g0005 a0001c0001t0093g0215 a0001c0001t0003g0114 a0001c0001t0064g0005 a0001c0001t0093g0215	3	300	0.0100	22	c.30+ others(37): Show c.30+5335_30+5336insCCTCTCTCTCTCTCTCTCTCTC	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFIC_chr19_3361583_3474217	3429253	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02132.hp2 HG02056.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0096 a0001c0001t0002 a0001c0001t0096	a0001c0001t0002g0003 a0001c0001t0096g0134 a0001c0001t0002g0003 a0001c0001t0096g0134	2	300	0.0067	22	c.634 others(39): Show c.634+4097_634+4118dupACACACACACACACACACACAC	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFIC_chr19_3361583_3474217	3467758	C C	CATATATA others(15): Show CATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp2 others(16): Show HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG01928.hp2 HG02055.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02615.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 NA18979.hp1 NA18999.hp1 NA19005.hp2 NA19066.hp1 NA19088.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0017 a0001c0001t0018 a0001c0001t0095 others(14): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0095 a0001c0001t0096 a0001c0001t0162 a0001c0001t0164 a0001c0001t0180 a0001c0001t0182 a0001c0001t0188 a0001c0001t0192 a0001c0001t0195 a0001c0001t0254 a0001c0002t0044 a0001c0002t0048 a0001c0002t0051 a0001c0002t0210 a0002c0003t0058	a0001c0001t0017g0077 a0001c0001t0017g0201 a0001c0001t0018g0089 others(16): Show a0001c0001t0017g0077 a0001c0001t0017g0201 a0001c0001t0018g0089 a0001c0001t0018g0196 a0001c0001t0095g0206 a0001c0001t0096g0134 a0001c0001t0162g0063 a0001c0001t0164g0300 a0001c0001t0180g0262 a0001c0001t0182g0090 a0001c0001t0188g0270 a0001c0001t0192g0004 a0001c0001t0195g0056 a0001c0001t0254g0105 a0001c0002t0044g0043 a0001c0002t0048g0106 a0001c0002t0051g0110 a0001c0002t0210g0246 a0002c0003t0058g0200	19	300	0.0633	22	c.49 others(33): Show c.4999_*5020dupTATATATATATATATATATATA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	11/11	5021	INFO_REALIGN_3_PRIME	chr19	TogoVar

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