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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MGAM_chr7_141990879_142111747	142042180	CATATTAT others(107): Show CATATTATATATACATATAATATATAACATATTATATATACATATAATAT ATAACATATATTATATATACATATAATATATAACATATATTATATATACA TATAATATATAACAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01123.hp1 NA18953.hp2 HG00438.hp1 HG01123.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0241 a0001c0003t0001g0043 a0001c0003t0001g0278 a0001c0001t0001g0241 a0001c0003t0001g0043 a0001c0003t0001g0278	3	65	0.0462	-114	c.249 others(19): Show c.2498+1366_2498+1479del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142043104	TATAATAT others(107): Show TATAATATCTAAATATAATATATATATTATATATACATATAATATCTAAA TATAATATCTATATTATATATACATATAATATCTAAATATAATATATATA TTATATATACATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG01099.hp1 others(36): Show HG00597.hp2 HG00735.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02280.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18963.hp2 NA18969.hp2 NA18978.hp2 NA18990.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19074.hp2 NA19082.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0029	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0014 a0001c0017 a0001c0043 a0002c0004 a0003c0074 a0004c0012 a0010c0023 a0029c0044	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0014t0001 a0001c0017t0001 a0001c0043t0001 a0002c0004t0001 a0003c0074t0001 a0004c0012t0001 a0010c0023t0001 a0029c0044t0001	a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0066 others(35): Show a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0066 a0001c0001t0001g0248 a0001c0003t0001g0202 a0001c0007t0001g0133 a0001c0007t0001g0158 a0001c0007t0001g0159 a0001c0007t0001g0161 a0001c0007t0001g0186 a0001c0007t0001g0271 a0001c0007t0001g0290 a0001c0014t0001g0192 a0001c0014t0001g0203 a0001c0014t0001g0263 a0001c0014t0001g0297 a0001c0017t0001g0104 a0001c0017t0001g0134 a0001c0017t0001g0160 a0001c0043t0001g0212 a0002c0004t0001g0053 a0002c0004t0001g0120 a0002c0004t0001g0123 a0002c0004t0001g0168 a0002c0004t0001g0189 a0002c0004t0001g0191 a0002c0004t0001g0195 a0002c0004t0001g0196 a0002c0004t0001g0200 a0002c0004t0001g0201 a0002c0004t0001g0204 a0002c0004t0001g0247 a0002c0004t0001g0262 a0003c0074t0001g0069 a0004c0012t0001g0125 a0010c0023t0001g0046 a0010c0023t0001g0082 a0029c0044t0001g0181	39	246	0.1585	-114	c.249 others(19): Show c.2498+2262_2498+2375del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MIER2_chr19_300573_349796	311972	TGCCCAGG others(107): Show TGCCCAGGGCGGGGCCGCAGCGGAAGGAAGGCCCAGGCCGGGGAGAACAG TCAGCGGCGCCCAGGGCGGGGCCGCAGCGGAAGGAAGGCCCAGGCCGGGG AGAACGGTCAGCGGC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18984.hp2 HG02698.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0044 a0001c0001t0001g0052	2	223	0.0090	-114	c.889 others(14): Show c.889+105_890-34del		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	9/13						chr19	TogoVar
MPG_chr16_73225_90846	81570	GCACTGAC others(107): Show GCACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCT CCTGAATGCTCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	428	0.0023	-114	c.301 others(17): Show c.301-1449_301-1336del		MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81686	ACTGACCC others(107): Show ACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGC TCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCC TGAATGCTCCCGGCG	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	389	0.0026	-114	c.301 others(17): Show c.301-1366_301-1253del		MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3						chr16	TogoVar
MPG_chr16_73225_90846	81894	GCCTCCTG others(107): Show GCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTC CAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTATCTCCGGGAAGC	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	272	0.0037	-114	c.301 others(17): Show c.301-1158_301-1045del		MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3						chr16	TogoVar
MPG_chr16_73225_90846	81918	ACCCCTTC others(107): Show ACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAA TGCTCCCCACGCTGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	401	0.0025	-114	c.301 others(16): Show c.301-1107_301-994del		MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81975	ACCCCTTC others(107): Show ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	293	0.0034	-114	c.301 others(16): Show c.301-1055_301-942del		MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81997	TCTCCGGG others(107): Show TCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	221	0.0045	-114	c.301 others(15): Show c.301-998_301-885del		MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82065	GCCTCCTG others(107): Show GCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACC CTATCTCCGGGAAGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG02647.hp2 others(2): Show HG00639.hp1 HG01175.hp2 HG02647.hp2 HG03225.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0002t0001g0085 a0001c0002t0001g0100	5	271	0.0185	-114	c.301 others(15): Show c.301-969_301-856del		MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82111	CCTCCGGG others(107): Show CCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	399	0.0025	-114	c.301 others(15): Show c.301-912_301-799del		MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC20_chr3_195715978_195738551	195725550	CCCATCCA others(107): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18991.hp2 NA18991.hp2	a0042 a0042	a0042c0027 a0042c0027	a0042c0027t0001 a0042c0027t0001	a0042c0027t0001g0029 a0042c0027t0001g0029	1	184	0.0054	-114	c.106 others(9): Show c.1061_1174del	p.Leu others(13): Show p.Leu354_Gly391del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	1091/2493	1061/2130	354/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUSK_chr9_110663791_110811558	110701652	ATTTATTT others(107): Show ATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	260	0.0038	-114	c.628 others(17): Show c.628+4189_628+4302del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYZAP_chr15_57586904_57690364	57687888	TATAATAT others(107): Show TATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATA CACATATATAATATGTGTGTACAATATACACATATATAATGTGTGTACAA TATACACATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	350	0.0029	-114	c.33 others(11): Show c.3391_*3504del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2525		chr15	TogoVar
NCAPG2_chr7_158626169_158709804	158667436	CCTTACCC others(107): Show CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCT GTGGCCCTCCACCCG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	375	0.0027	-114	c.148 others(19): Show c.1480-2800_1480-2687del		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCBP2L_chrX_107772733_107800829	107782198	TATATATA others(107): Show TATATATATATAAATATATATATAAATATATATATATAAATATATATATA TAAATATATATATAAATATATATATATAAATATATATAAATATATATATA TAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp1 HG02922.hp1 others(8): Show HG02109.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0032 a0002c0003t0003g0100 a0002c0003t0003g0102 others(7): Show a0002c0003t0003g0032 a0002c0003t0003g0100 a0002c0003t0003g0102 a0002c0003t0003g0213 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0223 a0002c0003t0003g0224	11	293	0.0375	-114	c.-73 others(17): Show c.-73+4352_-73+4465del		NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107782212	TATATATA others(107): Show TATATATATAAATATATATATATAAATATATATATATAAATATATATATA AATATATATATATAAATATATATAAATATATATATATAAATATATATATA AATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0237 a0001c0002t0003g0237	1	298	0.0034	-114	c.-73 others(17): Show c.-73+4364_-73+4477del		NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107782254	TATATATA others(107): Show TATATATAAATATATATATATAAATATATATAAATATATATATATAAATA TATATATAAATATATATATATAAATATATATATAAATATATATATATAAA TATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0236 a0001c0002t0005g0236	1	268	0.0037	-114	c.-73 others(17): Show c.-73+4404_-73+4517del		NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
NEU4_chr2_241804193_241822413	241806227	CTCCCCCC others(107): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAAC CTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	-114	c.-30 others(11): Show c.-3050_-2937del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2965		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807953	AGGGACCT others(107): Show AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCT CCCCTCTTAGCCCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	318	0.0031	-114	c.-13 others(11): Show c.-1324_-1211del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1239		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79482969	CCTGGGGT others(107): Show CCTGGGGTGTAATTCTAGCGTGACCTGGTCCTGGGGTGTCACTCCAGTGT GACCTGGTTCCTGGGTAATTCCAGCGTGACCTGGTCCTGGGGTGTCACTC CAGCGTGACCTGGTA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03516.hp2 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0018 a0001c0056 a0001c0018 a0001c0056	a0001c0018t0009 a0001c0056t0009 a0001c0018t0009 a0001c0056t0009	a0001c0018t0009g0128 a0001c0056t0009g0140 a0001c0018t0009g0128 a0001c0056t0009g0140	2	319	0.0063	-114	c.209 others(19): Show c.2093-3264_2093-3151del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79504758	ACAGGAGA others(107): Show ACAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTT GGGTGAGGGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0055 a0001c0005t0005g0055	1	207	0.0048	-114	c.278 others(21): Show c.2782+17909_2782+18022del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505321	GGAAGAGG others(107): Show GGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0204 a0001c0001t0021g0204	1	320	0.0031	-114	c.278 others(21): Show c.2782+18462_2782+18575del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505399	CGTGGGAG others(107): Show CGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGAGAAGAGGCAGGAG ACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGATGGAAGAG GCAGGAGACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG02895.hp1 others(1): Show HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0011 a0001c0005t0009 a0001c0005t0011	a0001c0005t0009g0136 a0001c0005t0011g0138 a0001c0005t0011g0139 others(1): Show a0001c0005t0009g0136 a0001c0005t0011g0138 a0001c0005t0011g0139 a0001c0005t0011g0142	4	317	0.0126	-114	c.278 others(21): Show c.2782+18498_2782+18611del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505479	GCCCTTGG others(107): Show GCCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGT GCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGG AGGTGGTGGATGAGA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0012 a0001c0004t0002g0012	1	316	0.0032	-114	c.278 others(21): Show c.2782+18576_2782+18689del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505662	TGGAAGAG others(107): Show TGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATG AGACCCTTGGGTGAG	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0204 a0001c0001t0021g0204	1	137	0.0073	-114	c.278 others(21): Show c.2782+18725_2782+18838del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9						chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505662	TGGAAGAG others(107): Show TGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATG AGACCCTTGGGTGAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG02895.hp1 others(1): Show HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0011 a0001c0005t0009 a0001c0005t0011	a0001c0005t0009g0136 a0001c0005t0011g0138 a0001c0005t0011g0139 others(1): Show a0001c0005t0009g0136 a0001c0005t0011g0138 a0001c0005t0011g0139 a0001c0005t0011g0142	4	140	0.0286	-114	c.278 others(21): Show c.2782+18804_2782+18917del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NKD1_chr16_50543396_50654249	50579427	GCTACACA others(107): Show GCTACACACGCACTCTAACCCGCCACGCATGCACTGTCTTAGTCCTGCGG GCTACCCGCTACACACGCACTCTAACCCGCCACGCATGCACTGTCTTACT CCTGCGGGGTACCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00741.hp1 others(22): Show HG00280.hp2 HG00408.hp1 HG00741.hp1 HG01109.hp1 HG01192.hp2 HG01516.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02109.hp1 HG02148.hp1 HG02559.hp1 HG03195.hp1 HG03195.hp2 HG03516.hp1 HG04184.hp1 NA18992.hp1 NA19000.hp1 NA19005.hp2 NA19011.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0067 a0001c0001t0068 a0001c0003t0004	a0001c0001t0002g0162 a0001c0001t0002g0191 a0001c0001t0003g0009 others(22): Show a0001c0001t0002g0162 a0001c0001t0002g0191 a0001c0001t0003g0009 a0001c0001t0003g0171 a0001c0001t0005g0163 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0005g0176 a0001c0001t0010g0174 a0001c0001t0014g0016 a0001c0001t0014g0017 a0001c0001t0014g0018 a0001c0001t0021g0164 a0001c0001t0021g0168 a0001c0001t0024g0008 a0001c0001t0026g0120 a0001c0001t0050g0029 a0001c0001t0051g0172 a0001c0001t0053g0159 a0001c0001t0067g0160 a0001c0001t0068g0161 a0001c0003t0004g0180	25	210	0.1190	-114	c.193 others(19): Show c.193-28753_193-28640del		NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP8_chr19_55942832_55993629	55993500	CCTCCTCT others(107): Show CCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCTCCTCCCCCCTCCTCCT CTCAACCTCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG03710.hp1 HG01175.hp2 HG03710.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0017 a0001c0001 a0010c0017	a0001c0001t0001 a0010c0017t0001 a0001c0001t0001 a0010c0017t0001	a0001c0001t0001g0091 a0010c0017t0001g0191 a0001c0001t0001g0091 a0010c0017t0001g0191	2	347	0.0058	-114	c.55 others(11): Show c.5588_*5701del		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4872		chr19	TogoVar
NPIPB13_chr16_30217897_30253479	30225246	AGCTGAGG others(107): Show AGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGAT TATCATCCGCTGAGGGTGGAAGGGGATGGAGCAGACACTCGGCACGTGTC TTGAGATTATCATCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00323.hp1 HG00558.hp2 others(46): Show HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02896.hp2 HG03834.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp2 NA18962.hp2 NA18974.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19012.hp1 NA19060.hp1 NA19062.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19088.hp2	a0001 a0028 a0038 others(1): Show a0001 a0028 a0038 a0039	a0001c0001 a0001c0002 a0001c0017 others(8): Show a0001c0001 a0001c0002 a0001c0017 a0001c0021 a0001c0033 a0001c0047 a0001c0049 a0001c0051 a0028c0048 a0038c0034 a0039c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0017t0001 a0001c0021t0003 a0001c0033t0004 a0001c0047t0003 a0001c0049t0003 a0001c0051t0009 a0028c0048t0004 a0038c0034t0001 a0039c0022t0003	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 others(46): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0009g0013 a0001c0001t0010g0011 a0001c0001t0013g0016 a0001c0002t0001g0036 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0003g0096 a0001c0002t0017g0025 a0001c0002t0018g0043 a0001c0002t0019g0042 a0001c0017t0001g0047 a0001c0021t0003g0094 a0001c0033t0004g0005 a0001c0047t0003g0104 a0001c0049t0003g0102 a0001c0051t0009g0012 a0028c0048t0004g0002 a0038c0034t0001g0039 a0039c0022t0003g0103	49	144	0.3403	-114	c.108 others(9): Show c.1086_1199del	p.Asp others(13): Show p.Asp363_Ala400del	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3942/6292	1086/3417	362/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225384	AGCTGAGG others(107): Show AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGAT TATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCAGGAGGTGTC TTGAGATTATCATCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03195.hp1 HG03195.hp1	a0034 a0034	a0034c0052 a0034c0052	a0034c0052t0001 a0034c0052t0001	a0034c0052t0001g0034 a0034c0052t0001g0034	1	132	0.0076	-114	c.948 others(8): Show c.948_1061del	p.Asp others(13): Show p.Asp317_Ala354del	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3804/6292	948/3417	316/1138			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21837351	GACACTCG others(107): Show GACACTCGGGAGGTGTCTTGAGTTTATCATCCGCTGAGGGTGGAAGGGGA GTGAGGAGACACTCAGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGG AAGGGGAGTGAGCAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01081.hp2 HG01081.hp2	a0031 a0031	a0031c0054 a0031c0054	a0031c0054t0001 a0031c0054t0001	a0031c0054t0001g0113 a0031c0054t0001g0113	1	204	0.0049	-114	c.922 others(8): Show c.922_1035del	p.Val others(13): Show p.Val308_Cys345del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	1250/4020	922/3669	308/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21837415	AGGAGGTG others(107): Show AGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCA CACACTCGGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGA GTGAGCACACACTCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18964.hp2 NA19063.hp1 NA18964.hp2 NA19063.hp1	a0056 a0058 a0056 a0058	a0056c0073 a0058c0072 a0056c0073 a0058c0072	a0056c0073t0001 a0058c0072t0001 a0056c0073t0001 a0058c0072t0001	a0056c0073t0001g0096 a0058c0072t0001g0098 a0056c0073t0001g0096 a0058c0072t0001g0098	2	203	0.0099	-114	c.858 others(7): Show c.858_971del	p.Glu others(13): Show p.Glu287_Pro324del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	1186/4020	858/3669	286/1222			chr16	TogoVar
NPRL3_chr16_80386_143673	81570	GCACTGAC others(107): Show GCACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCT CCTGAATGCTCCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0166 a0001c0001t0010g0166	1	337	0.0030	-114	c.50 others(11): Show c.5021_*5134del		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3815		chr16	TogoVar
NPRL3_chr16_80386_143673	81684	ACACTGAC others(107): Show ACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0155 a0001c0005t0001g0155	1	309	0.0032	-114	c.49 others(11): Show c.4907_*5020del		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3701		chr16	TogoVar
NPRL3_chr16_80386_143673	81894	GCCTCCTG others(107): Show GCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTC CAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTATCTCCGGGAAGC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0160 a0001c0001t0001g0162	2	222	0.0090	-114	c.46 others(11): Show c.4698_*4811del		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3492		chr16	TogoVar
NPRL3_chr16_80386_143673	81918	ACCCCTTC others(107): Show ACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAA TGCTCCCCACGCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	316	0.0032	-114	c.46 others(11): Show c.4673_*4786del		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3467		chr16	TogoVar
NPRL3_chr16_80386_143673	81997	TCTCCGGG others(107): Show TCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	181	0.0055	-114	c.45 others(11): Show c.4594_*4707del		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3388		chr16	TogoVar
NPRL3_chr16_80386_143673	82065	GCCTCCTG others(107): Show GCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACC CTATCTCCGGGAAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG03225.hp1 HG00639.hp2 HG01175.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0010 a0001c0005t0001 a0001c0001t0001 a0001c0001t0010 a0001c0005t0001	a0001c0001t0001g0052 a0001c0001t0010g0167 a0001c0005t0001g0155 a0001c0001t0001g0052 a0001c0001t0010g0167 a0001c0005t0001g0155	3	218	0.0138	-114	c.45 others(11): Show c.4526_*4639del		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3320		chr16	TogoVar
NPRL3_chr16_80386_143673	82111	CCTCCGGG others(107): Show CCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0345 a0003c0003t0008g0345	1	312	0.0032	-114	c.44 others(11): Show c.4480_*4593del		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3274		chr16	TogoVar
NRF1_chr7_129606720_129762076	129735612	TTCGCAAG others(107): Show TTCGCAAGTATCCTCAGGGTAGCGTGTCCCACGTTCTGGGCTGGTCCTGG CAACAGTCTTGCTGCTGAGGTTCCACCTTAAGACTTCAACGTCATATTTT CTGAAACTATAAGAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02647.hp1 HG01433.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0350 a0001c0002t0005g0353 a0001c0002t0005g0350 a0001c0002t0005g0353	2	382	0.0052	-114	c.134 others(19): Show c.1348+8248_1348+8361del		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	10/10						chr7	TogoVar
NSMF_chr9_137442570_137464334	137452115	TCAAACAC others(107): Show TCAAACACCTCTTCCCCTTGGTCTTCCCACCCCAGCCTCTTCCCCTTGGT CTCCCCCAGCCACACCTCTTCCCCTTGGTCTCCACCCCCACGCCTCTTCC CCTTGGTCTCCCCCA	T T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	-114	c.123 others(17): Show c.1236+136_1236+249del		NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15						chr9	TogoVar
NSMF_chr9_137442570_137464334	137454033	AGGGAGGA others(107): Show AGGGAGGAGCCTGGGCCGGGCTGGGGGCGTGGCTGGGAGGGGAGGAGCCT GGGCCGGGCTGGGGGCGTGGCTGGGAGGGGAGGAGCCTGGGCCGGGCTGG GGGCGTGGCTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04204.hp1 HG04115.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	240	0.0083	-114	c.832 others(15): Show c.832+244_833-214del		NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	7/15						chr9	TogoVar
NXN_chr17_794310_984776	942081	AACACCTT others(107): Show AACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAAACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAG CCATGAATTCACCAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0220 a0001c0001t0013g0220	1	201	0.0050	-114	c.360 others(19): Show c.360+37124_360+37237del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942575	TGCAGCCA others(107): Show TGCAGCCATGAATTCACCAAACACCTTCCTGGATTTCCAGTGAACAAGAT TCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGCGA ACAAGATTCCAGGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0220 a0001c0001t0013g0220	1	238	0.0042	-114	c.360 others(19): Show c.360+36630_360+36743del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942593	AAACACCT others(107): Show AAACACCTTCCTGGATTTCCAGTGAACAAGATTCCAGGGTGCAGCCATGA ACTCACATCACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCA GCCATGAACTCACAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03834.hp1 HG03710.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0148 a0001c0001t0002g0112 a0001c0001t0002g0148	2	234	0.0085	-114	c.360 others(19): Show c.360+36612_360+36725del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	948955	CCCTGCCT others(107): Show CCCTGCCTCCTCCTCTCCCCGCGGGCTCCTCCTCTCCCCCCGGGCTCCTC CTCTCCCCCCGGGCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGC CTCCTCCTCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	239	0.0042	-114	c.360 others(19): Show c.360+30250_360+30363del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	949223	TGCCTCCT others(107): Show TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCGGCCT CCTCCTCTCCCCGCG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	173	0.0058	-114	c.360 others(19): Show c.360+29982_360+30095del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OPCML_chr11_132409981_133537501	133140910	AGAAGAAG others(107): Show AGAAGAAGAAGACGACGACGACGAAGAAGAAGAAGACGACGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGACGACGACGAC GACGACGACGACGAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0064 a0001c0001t0009g0064	1	55	0.0182	-114	c.62- others(19): Show c.62-198014_62-197901del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPHN1_chrX_68037344_68438495	68325663	CTTTCCGT others(107): Show CTTTCCGTTTCCCTTTTCCTTTCCCGTTTTCCTTATCCGTTTCCGTTTTC CTTTTCCTTTTCCGTTTTCCATTTCCTTTTCCATTATCCATATCCTTGTC CGGTGTCCTTTTCCG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0100 a0001c0001t0017g0100	1	152	0.0066	-114	c.155 others(19): Show c.155-26681_155-26568del		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar

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