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
NDUFAF2_chr5_60940205_61158026	61136005	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	24	0.0417	31	c.259 others(50): Show c.259-16699_259-16698insATATATATATATATATATATATATAT ATATA	NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	3/3			chr5	TogoVar
NDUFB11_chrX_47137216_47149702	47146434	G G	GCAACCTA others(24): Show GCAACCTAGTGTTGAGCAGGTGCTATTATTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	272	0.0037	31	c.-17 others(42): Show c.-1786_-1756dupGCAATAATAGCACCTGCTCAACACTAGGTTG	NDUFB11	ENSG00000147123.12	transcript	ENST00000377811.4	protein_coding		1733		chrX	TogoVar
NDUFB11_chrX_47137216_47149702	47148585	T T	TATGTATC others(24): Show TATGTATCCTTCTATGATACATATCATAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 NA18964.hp1 NA18981.hp1 others(2): Show HG02976.hp1 NA18964.hp1 NA18981.hp1 NA19077.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011	5	98	0.0510	31	c.-39 others(42): Show c.-3937_-3907dupTTTCTATGATATGTATCATAGAAGGATACAT	NDUFB11	ENSG00000147123.12	transcript	ENST00000377811.4	protein_coding		3884		chrX	TogoVar
NECAB1_chr8_90786775_90964393	90922486	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0042	1	9	0.1111	31	c.495 others(48): Show c.495-3025_495-3024insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG06807.hp2 HG02135.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0242 a0001c0001t0001g0036 a0001c0001t0001g0242	2	27	0.0741	31	c.490 others(48): Show c.490-2512_490-2511insAAAAAAAAAAAAAAATATATATATATAT ATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	26	0.0385	31	c.490 others(48): Show c.490-2512_490-2511insAAAAAAAAAAAAATATATATATATATAT ATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18945.hp1 NA18963.hp2 others(6): Show HG02809.hp1 NA18945.hp1 NA18963.hp2 NA18993.hp2 NA19000.hp2 NA19058.hp2 NA19070.hp2 NA19076.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0001 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0015 a0001c0001t0001g0207 a0001c0001t0001g0211 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0298 a0001c0001t0003g0024 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0017g0266	9	34	0.2647	31	c.490 others(48): Show c.490-2512_490-2511insAAAAAAAAAAATATATATATATATATAT ATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03490.hp1 NA19063.hp1 HG01496.hp1 HG03490.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0003g0025 a0001c0001t0004g0002 a0001c0001t0008g0205 a0001c0001t0003g0025 a0001c0001t0004g0002 a0001c0001t0008g0205	3	28	0.1071	31	c.490 others(48): Show c.490-2512_490-2511insAAAAAAAAATATATATATATATATATAT ATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	26	0.0385	31	c.490 others(48): Show c.490-2512_490-2511insAAAAATATATATATATATATATATATAT ATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEGR1_chr1_71390943_72287539	71942483	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0025 a0001c0001t0017g0025	1	45	0.0222	31	c.177 others(48): Show c.177-7173_177-7172insAAAAAAAAAAAAAAATATATATATATAT ATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEK10_chr3_27101484_27374383	27282544	A A	ATATATAT others(24): Show ATATATATATATATATACACATAACTGTGTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG01884.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0054 a0001c0002t0008 a0001c0002t0054	a0001c0002t0008g0065 a0001c0002t0054g0095 a0001c0002t0008g0065 a0001c0002t0054g0095	2	232	0.0086	31	c.201 others(50): Show c.2014+2057_2014+2058insAAACACAGTTATGTGTATATATATAT ATATA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NELL1_chr11_20664586_21580686	21489380	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0038 a0001c0004t0001g0038	1	13	0.0769	31	c.164 others(52): Show c.1646-44966_1646-44965insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL2_chr12_44503278_44881315	44521529	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	131	0.0076	31	c.217 others(48): Show c.2175+470_2175+471insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	18/19			chr12	TogoVar
NEMF_chr14_49777083_49857788	49806257	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18994.hp1 HG01928.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0002g0089 a0001c0001t0001g0085 a0001c0001t0002g0089	2	114	0.0175	31	c.174 others(48): Show c.1745-125_1745-124insTATATATATATATATATATATATATATA TAT	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02615.hp2 NA19000.hp1 HG00438.hp2 HG02615.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0266 a0001c0001t0007g0242 a0001c0001t0007g0259 a0001c0001t0003g0266 a0001c0001t0007g0242 a0001c0001t0007g0259	3	6	0.5000	31	c.209 others(50): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEU4_chr2_241804193_241822413	241805595	T T	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0002 a0001c0006t0001g0002	1	318	0.0031	31	c.-36 others(42): Show c.-3683_-3682insCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3597		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807654	T T	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGAACCTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	296	0.0034	31	c.-16 others(42): Show c.-1624_-1623insCCCCCCTCAGCCCAGGAACCTCTGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1538		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807656	C C	CCCCCTCA others(24): Show CCCCCTCAGCCCAGGGACCTCTGCAGGCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0012	1	316	0.0032	31	c.-16 others(42): Show c.-1622_-1621insCCCCTCAGCCCAGGGACCTCTGCAGGCCACT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1536		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807888	T T	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	303	0.0033	31	c.-13 others(42): Show c.-1390_-1389insCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1304		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807935	T T	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	296	0.0034	31	c.-13 others(42): Show c.-1343_-1342insCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1257		chr2	TogoVar
NEURL1B_chr5_172636263_172696540	172667275	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00642.hp2 others(9): Show HG00438.hp1 HG00621.hp1 HG00642.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp2 HG02027.hp2 HG02129.hp1 HG02258.hp2 HG04184.hp1 NA18994.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0055 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0156 a0001c0001t0002g0056 a0001c0001t0006g0058 a0001c0001t0014g0220 a0001c0001t0017g0262 a0001c0001t0019g0044 a0001c0001t0020g0057	12	91	0.1319	31	c.32- others(46): Show c.32-2489_32-2488insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NFASC_chr1_204823652_205027822	204926406	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0018 a0003c0023t0018	a0003c0023t0018g0178 a0003c0023t0018g0178	1	178	0.0056	31	c.-91 others(48): Show c.-91+5667_-91+5668insATATATATATATATATATATATATTTTT TTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926406	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0005 a0001c0005t0014g0005	1	211	0.0047	31	c.-90 others(50): Show c.-90-17819_-90-17818insATATATATATATATATATATATATTT TTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG02129.hp1 others(8): Show HG00735.hp2 HG01192.hp1 HG02129.hp1 HG02165.hp2 HG03927.hp1 NA18948.hp2 NA18969.hp2 NA18971.hp2 NA18979.hp2 NA19056.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0056 a0001c0001t0004 a0001c0001t0005 a0001c0001t0056	a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0132 others(8): Show a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0137 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0332 a0001c0001t0005g0320 a0001c0001t0005g0333 a0001c0001t0056g0141	11	184	0.0598	31	c.177 others(50): Show c.1775-2714_1775-2713insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69688225	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	378	0.0026	31	c.177 others(50): Show c.1775-2714_1775-2713insAAAAAAAAAAAAAAAAAAAAAAAAAA AAACA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79521736	T T	TGGGGAGC others(24): Show TGGGGAGCATCCACTGATGTGTATGTGTGTGG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19063.hp1 NA19085.hp1 NA18966.hp2 NA19063.hp1 NA19085.hp1	a0001 a0011 a0001 a0011	a0001c0004 a0011c0042 a0001c0004 a0011c0042	a0001c0004t0002 a0001c0004t0052 a0011c0042t0003 a0001c0004t0002 a0001c0004t0052 a0011c0042t0003	a0001c0004t0002g0090 a0001c0004t0052g0087 a0011c0042t0003g0152 a0001c0004t0002g0090 a0001c0004t0052g0087 a0011c0042t0003g0152	3	320	0.0094	31	c.278 others(50): Show c.2783-5788_2783-5787insAGCATCCACTGATGTGTATGTGTGTG GGGGG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8653038	T T	TTCTTTCT others(24): Show TTCTTTCTTTCTCTCTCCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	270	0.0037	31	c.-16 others(52): Show c.-164+17295_-164+17296insTTCTTTCTCTCTCCTCTCTCTCTC TCTCTCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKB1_chr4_102496359_102622302	102544090	A A	AAAGGAAT others(24): Show AAAGGAATCTTTTTAGGAATTCCTAAATTTAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02145.hp2 HG03041.hp1 others(2): Show HG01192.hp2 HG02145.hp2 HG03041.hp1 HG03130.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 others(2): Show a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0217	5	326	0.0153	31	c.258 others(48): Show c.258+6134_258+6135insAAGGAATCTTTTTAGGAATTCCTAAATT TAG	NFKB1	ENSG00000109320.14	transcript	ENST00000226574.9	protein_coding	5/23			chr4	TogoVar
NFKB2_chr10_102390705_102407524	102404347	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	283	0.0035	31	c.19 others(42): Show c.1971_*1972insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NFKB2	ENSG00000077150.21	transcript	ENST00000661543.1	protein_coding		1824		chr10	TogoVar
NGEF_chr2_232873701_233018256	232995089	A A	ATGTATAC others(24): Show ATGTATACTGTATATGTGTACAGTATGTATAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18957.hp2 NA18965.hp2 others(1): Show NA18747.hp2 NA18957.hp2 NA18965.hp2 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0002c0008 a0001c0004 a0002c0006 a0002c0008	a0001c0004t0017 a0002c0006t0018 a0002c0008t0004 others(1): Show a0001c0004t0017 a0002c0006t0018 a0002c0008t0004 a0002c0008t0017	a0001c0004t0017g0004 a0002c0006t0018g0005 a0002c0008t0004g0207 others(1): Show a0001c0004t0017g0004 a0002c0006t0018g0005 a0002c0008t0004g0207 a0002c0008t0017g0006	4	212	0.0189	31	c.-75 others(50): Show c.-75+17978_-75+17979insGTATACATACTGTACACATATACAGT ATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995578	A A	ACAGTATG others(24): Show ACAGTATGTATACTGTATATATATACAGTATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp2 HG03486.hp1 others(2): Show HG02257.hp1 HG02818.hp2 HG03486.hp1 NA18906.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0006 a0001c0001 a0001c0005 a0002c0006	a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 others(2): Show a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 a0001c0005t0016 a0002c0006t0030	a0001c0001t0006g0324 a0001c0001t0007g0322 a0001c0005t0001g0180 others(2): Show a0001c0001t0006g0324 a0001c0001t0007g0322 a0001c0005t0001g0180 a0001c0005t0016g0323 a0002c0006t0030g0106	5	331	0.0151	31	c.-75 others(50): Show c.-75+17489_-75+17490insCATACTGTATATATATACAGTATACA TACTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHS_chrX_17370200_17740994	17521366	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0118 a0006c0007t0002g0118	1	146	0.0068	31	c.565 others(52): Show c.565+145057_565+145058insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NINJ1_chr9_93116496_93139251	93122474	T T	TGGAAGGA others(24): Show TGGAAGGAGGGAGAGGAGAGGGTCTGAGCCTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01069.hp2 others(35): Show HG00280.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01891.hp1 HG01943.hp2 HG01993.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03710.hp2 HG04228.hp2 HG06807.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0009 a0002c0002 a0003c0003 a0004c0009	a0002c0002t0004 a0002c0002t0005 a0003c0003t0007 others(1): Show a0002c0002t0004 a0002c0002t0005 a0003c0003t0007 a0004c0009t0004	a0002c0002t0004g0012 a0002c0002t0004g0021 a0002c0002t0004g0022 others(12): Show a0002c0002t0004g0012 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0027 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0061 a0002c0002t0004g0066 a0002c0002t0004g0072 a0002c0002t0005g0007 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0003c0003t0007g0017 a0004c0009t0004g0071	38	89	0.4270	31	c.10 others(46): Show c.10-245_*10-244insCAGGCTCAGACCCTCTCCTCTCCCTCCTTC C	NINJ1	ENSG00000131669.10	transcript	ENST00000375446.5	protein_coding	3/3			chr9	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19088.hp1 NA19012.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0140 a0001c0001t0001g0146	2	38	0.0526	31	c.33+ others(48): Show c.33+33431_33+33432insATATATATATTTTTTTTTTTTTTTTTTT TTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	37	0.0270	31	c.33+ others(48): Show c.33+33431_33+33432insATATATATATATTTTTTTTTTTTTTTTT TTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	37	0.0270	31	c.33+ others(48): Show c.33+33431_33+33432insATATATATATATATTTTTTTTTTTTTTT TTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18968.hp1 HG00408.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0002g0173 a0001c0001t0001g0045 a0001c0001t0002g0173	2	38	0.0526	31	c.33+ others(48): Show c.33+33431_33+33432insATATATATATATATATATATTTTTTTTT TTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	634265	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	66	0.0152	31	c.33+ others(48): Show c.33+29062_33+29063insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINL_chr20_25447697_25590531	25561055	T T	TTTCCACG others(24): Show TTTCCACGGTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(71): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02083.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18962.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0002 a0017 a0022 others(1): Show a0002 a0017 a0022 a0025	a0002c0002 a0002c0023 a0002c0027 others(3): Show a0002c0002 a0002c0023 a0002c0027 a0017c0040 a0022c0034 a0025c0041	a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 others(5): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0023t0005 a0002c0027t0002 a0017c0040t0002 a0022c0034t0002 a0025c0041t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 others(71): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0036 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0005g0016 a0002c0002t0005g0026 a0002c0002t0005g0027 a0002c0002t0005g0028 a0002c0002t0005g0029 a0002c0002t0005g0031 a0002c0002t0005g0032 a0002c0002t0005g0033 a0002c0002t0005g0034 a0002c0002t0005g0035 a0002c0002t0005g0037 a0002c0002t0005g0038 a0002c0002t0005g0039 a0002c0002t0005g0074 a0002c0002t0005g0080 a0002c0002t0008g0075 a0002c0023t0005g0030 a0002c0027t0002g0052 a0017c0040t0002g0064 a0022c0034t0002g0043 a0025c0041t0002g0058	74	249	0.2972	31	c.-12 others(50): Show c.-12+24399_-12+24400insGGAGAGGGAGAGGGAGAGGGAGACCG TGGAA	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NKAIN2_chr6_123798865_124830640	123910499	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	25	0.0400	31	c.54+ others(50): Show c.54+106268_54+106269insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124369880	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	4	0.2500	31	c.273 others(50): Show c.273+14551_273+14552insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTGT others(24): Show GTTGTTGTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0069 a0001c0001t0055g0069	1	18	0.0556	31	c.472 others(50): Show c.472-34994_472-34993insGTTGTTGTTTTTTTTTTTTTTTTTTT TTTTT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTGT others(24): Show GTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0072 a0002c0003t0072	a0002c0003t0072g0094 a0002c0003t0072g0094	1	18	0.0556	31	c.472 others(50): Show c.472-34994_472-34993insGTTGTTTTTTTTTTTTTTTTTTTTTT TTTTT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTTT others(24): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01167.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0068 a0001c0001t0031 a0001c0001t0068	a0001c0001t0031g0059 a0001c0001t0068g0133 a0001c0001t0031g0059 a0001c0001t0068g0133	2	19	0.1053	31	c.472 others(50): Show c.472-34994_472-34993insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKX1-2_chr10_124440243_124455035	124444486	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0006 a0002c0004t0004g0006	1	346	0.0029	31	c.29 others(42): Show c.2942_*2943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding		756		chr10	TogoVar
NLGN4Y_chrY_14519529_14850654	14554199	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	42	0.0238	31	c.-11 others(52): Show c.-112+29516_-112+29517insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	NLGN4Y	ENSG00000165246.15	transcript	ENST00000684976.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrY	TogoVar
NLRC3_chr16_3534033_3582403	3569395	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0022 a0006c0010t0022	a0006c0010t0022g0142 a0006c0010t0022g0142	1	374	0.0027	31	c.-16 others(50): Show c.-168-2072_-168-2071insTATATATATATATATATATATATATA TATAT	NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding	1/19			chr16	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG01943.hp1 others(2): Show HG01261.hp2 HG01346.hp2 HG01943.hp1 HG02293.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(2): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190	5	199	0.0251	31	c.-11 others(50): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0318 a0001c0013t0001g0318	1	242	0.0041	31	c.326 others(46): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54984485	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0244 a0002c0003t0003g0244	1	65	0.0154	31	c.203 others(48): Show c.2031-547_2031-546insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar

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