Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
P2RX5_chr17_3668227_3701155	3686372	CCCCCCGC others(196): Show CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCC CCCG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG02004.hp1 HG00280.hp1 HG01192.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0094	3	349	0.0086	-203	c.981 others(17): Show c.981+1437_981+1639del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PKP4_chr2_158451952_158686429	158554009	ATGAATTT others(196): Show ATGAATTTATTTCTTTAACATCTGGTTATTCTCCTGCCCTCTGTGTTCTC AAGCTAAGTAGGTGGGGTCAGCATTCTCCTTGCCCCCCGGTTGTTGCCTG CCTTTACACGTCCCTGGCTCCTTTGAGACTTCCATGCCTGGCTTTACCAT GCTTCCTCCTCTCTCCTGACATTCAGTAGCCTTCTGGCACTCACTGTCAT TCGC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02698.hp2 HG00735.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0229 a0001c0001t0003g0228 a0001c0001t0001g0229 a0001c0001t0003g0228	2	306	0.0065	-203	c.132 others(19): Show c.132+20698_132+20900del	PKP4	ENSG00000144283.23	transcript	ENST00000389759.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP6R2_chr22_50338327_50450090	50344760	GCCTCCTC others(196): Show GCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCC CCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCT CTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAG TCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCA GTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0022 a0009c0030t0022	a0009c0030t0022g0038 a0009c0030t0022g0038	1	338	0.0030	-203	c.-14 others(19): Show c.-148+1213_-148+1415del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKG1_chr10_51069487_52303350	51858121	ATATATTA others(196): Show ATATATTATATATATACATATTATACATATATATAATATATATTATATAT ATACATATTATACATATATATAATATATATTATATATATACATATTATAC ATATATATAATATATATTATATATAATACATATTATACATATATATAATA TTATACATATGTATAATTATACATATGTATAATATATATATGTATAATAT GTAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03453.hp2 NA20129.hp1 HG02896.hp2 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001	a0001c0001t0003g0029 a0001c0001t0006g0010 a0001c0002t0001g0052 a0001c0001t0003g0029 a0001c0001t0006g0010 a0001c0002t0001g0052	3	64	0.0469	-203	c.699 others(19): Show c.699-49380_699-49178del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRUNE2_chr9_76606376_76911114	76791208	TATACTGC others(196): Show TATACTGCACCAATTATCATTGGTACAATAATACTGCACCAATTATCATT GGTACAATAATACTGCACCAATTATCATTGGTACAATAATACTGCACCAA TTATCATTGGTACAATAATACTGCACCAATTATCATTGGTACAATAATAC TGCACCAATTATCATTGGTACAATAATACTGCACCAATTATCATTGGTAC AATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01943.hp2 HG02132.hp1 others(2): Show HG01192.hp1 HG01943.hp2 HG02132.hp1 HG02132.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0012	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0012t0003	a0001c0001t0001g0230 a0001c0004t0001g0037 a0001c0004t0001g0203 others(2): Show a0001c0001t0001g0230 a0001c0004t0001g0037 a0001c0004t0001g0203 a0002c0002t0001g0145 a0002c0012t0003g0190	5	85	0.0588	-203	c.756 others(19): Show c.756+32221_756+32423del	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
RASA3_chr13_113972783_114137623	114006237	GGATGCCA others(196): Show GGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTAC CCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTC CTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGG ACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTAC CCTT	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	66	0.0152	-203	c.174 others(19): Show c.1742+1093_1742+1295del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1071059	CATCACAC others(196): Show CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCC CCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	112	0.0089	-203	c.224 others(19): Show c.2241+2371_2241+2573del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC9A3_chr5_465456_529449	474212	CGGTCCAG others(196): Show CGGTCCAGGGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGAG AGGAGCTGCGGAGAGGGGTTAGGCGGGGAGAGAGAGAGAGCGAGCCAGGT TCAGGTCCAGGGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGG GAGAGGAGCTGCGGAGAGGGGTTAGGCGGGGAGGGAGAGAGAGAACCAGG TTCA	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0174 a0002c0002t0003g0174	1	73	0.0137	-203	c.250 others(17): Show c.2501+468_2501+670del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850303	TTATGTAT others(196): Show TTATGTATGTTATATACATATTATGTATAATATATGTTATATATATTATA CATAATATGTATAATATATATTATATATATTATATAATATATATTATATA TTATGTATAATATATATAATATATTATATATATTATGTATAATATATATT ATATATTATACATAATATATATTATATATTATATATTATGTATAATATAT GTTA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0111 a0001c0001t0014g0112 a0001c0001t0014g0111 a0001c0001t0014g0112	2	307	0.0065	-203	c.784 others(15): Show c.784+768_784+970del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
TNK2_chr3_195858364_195913551	195881286	GCCAGCAA others(196): Show GCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTAACACCCC CCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCC CCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCG CCCCCAGCGATGCCCCTTGGAGAGGACACAGGATCTGTCCCTCTAACACC CCCC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0314 a0002c0004t0002g0314	1	354	0.0028	-203	c.887 others(15): Show c.887+562_887+764del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
ZNF511_chr10_133303914_133318161	133317749	GCCCAGAC others(196): Show GCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACAGAGATGGA AAGACCACACACCCCCCCCCCCCCAGACACAGAGATGGAAAGACCACACC TCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCAGACACAG AGATGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGACCACACC CCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	280	0.0036	-203	c.48 others(11): Show c.4884_*5086del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4589		chr10	TogoVar
ABCA7_chr19_1035107_1070572	1049518	CCCCCACC others(195): Show CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGC CCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAA CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA ACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG AGG	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	1	28	0.0357	-202	c.255 others(16): Show c.2552+86_2552+287del	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACAP3_chr1_1287391_1312930	1288255	TCCCGTGT others(195): Show TCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01943.hp1 HG02165.hp2 others(2): Show HG01361.hp1 HG01943.hp1 HG02165.hp2 HG02897.hp2 NA18612.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0004t0001	a0001c0001t0001g0014 a0001c0001t0002g0001 a0001c0001t0002g0126 others(2): Show a0001c0001t0001g0014 a0001c0001t0002g0001 a0001c0001t0002g0126 a0001c0001t0003g0002 a0003c0004t0001g0204	5	275	0.0182	-202	c.51 others(11): Show c.5107_*5308del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4135		chr1	TogoVar
ATP9B_chr18_79064394_79383283	79358394	CCTGGGTC others(195): Show CCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTC CGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGATGTCTGTG TGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAG GGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGAT GCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp2 others(64): Show HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18940.hp1 NA18946.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA21309.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0015 a0016	a0001c0003 a0001c0004 a0001c0006 others(7): Show a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0001c0024 a0001c0037 a0002c0002 a0006c0012 a0015c0028 a0016c0027	a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 others(15): Show a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0013t0004 a0001c0024t0004 a0001c0037t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0006c0012t0003 a0015c0028t0012 a0016c0027t0003	a0001c0003t0003g0112 a0001c0003t0003g0120 a0001c0003t0003g0121 others(64): Show a0001c0003t0003g0112 a0001c0003t0003g0120 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0016 a0001c0004t0003g0034 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0094 a0001c0004t0003g0096 a0001c0004t0003g0098 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0119 a0001c0004t0004g0116 a0001c0004t0004g0118 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0282 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0024t0004g0058 a0001c0037t0003g0104 a0002c0002t0003g0192 a0002c0002t0003g0199 a0002c0002t0004g0252 a0002c0002t0004g0258 a0002c0002t0009g0250 a0002c0002t0009g0254 a0002c0002t0014g0175 a0006c0012t0003g0198 a0006c0012t0003g0219 a0006c0012t0003g0221 a0015c0028t0012g0143 a0016c0027t0003g0139	67	293	0.2287	-202	c.290 others(17): Show c.2904-928_2904-727del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC127_chr5_191868_223153	209490	TCCCCCAC others(195): Show TCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCAT TCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGC CTGGCCACACACATCATTCCACAACACATAGGACTCCCCCACAAACACAG AAACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACACATAGGA CTC	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	404	0.0025	-202	c.122 others(17): Show c.122-3734_122-3533del	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CFAP74_chr1_1916957_2008786	1934896	CACACGTG others(195): Show CACACGTGTGTACGTGGGTGTTAGGTTGTAGGTACACAGGTGTGTACGTG GGTGTTAGGTTGTAGGTACACGTGTGTACGTGGGTGTTAGGTTGTAGGTA CACACGTGTGTATGTGTGTTGCTGTGGGTACACACGTGTGTACGTGGGTG TTAGGCTGTGGGTACACACGTGTGTACGTGGGTGTTAGGTTGTGGGTACA CAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(137): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0006 a0008 a0011 a0012 a0016 a0020 a0021 a0024 a0026 a0027 a0029 a0030 a0032 a0033 a0035 a0038 a0039 a0041 a0042 a0046 a0047	a0001c0017 a0001c0025 a0001c0030 others(46): Show a0001c0017 a0001c0025 a0001c0030 a0001c0035 a0001c0064 a0001c0065 a0001c0067 a0001c0069 a0001c0096 a0001c0097 a0002c0001 a0002c0006 a0002c0020 a0002c0022 a0002c0055 a0002c0081 a0003c0004 a0003c0005 a0003c0008 a0003c0047 a0003c0056 a0003c0057 a0003c0074 a0003c0076 a0003c0084 a0003c0089 a0006c0018 a0008c0009 a0008c0073 a0011c0014 a0012c0024 a0012c0061 a0016c0033 a0020c0028 a0021c0079 a0024c0100 a0026c0098 a0027c0087 a0029c0082 a0030c0052 a0032c0048 a0033c0094 a0035c0091 a0038c0075 a0039c0088 a0041c0099 a0042c0078 a0046c0080 a0047c0054	a0001c0017t0002 a0001c0025t0001 a0001c0030t0001 others(47): Show a0001c0017t0002 a0001c0025t0001 a0001c0030t0001 a0001c0035t0002 a0001c0064t0001 a0001c0065t0001 a0001c0067t0001 a0001c0069t0001 a0001c0096t0001 a0001c0097t0002 a0002c0001t0001 a0002c0006t0001 a0002c0020t0001 a0002c0022t0001 a0002c0055t0001 a0002c0081t0001 a0003c0004t0002 a0003c0005t0002 a0003c0008t0002 a0003c0008t0005 a0003c0047t0009 a0003c0056t0002 a0003c0057t0002 a0003c0074t0002 a0003c0076t0002 a0003c0084t0002 a0003c0089t0002 a0006c0018t0001 a0008c0009t0001 a0008c0073t0001 a0011c0014t0001 a0012c0024t0002 a0012c0061t0002 a0016c0033t0001 a0020c0028t0002 a0021c0079t0001 a0024c0100t0002 a0026c0098t0002 a0027c0087t0001 a0029c0082t0001 a0030c0052t0002 a0032c0048t0001 a0033c0094t0001 a0035c0091t0004 a0038c0075t0001 a0039c0088t0001 a0041c0099t0002 a0042c0078t0001 a0046c0080t0001 a0047c0054t0002	a0001c0017t0002g0026 a0001c0017t0002g0027 a0001c0017t0002g0073 others(137): Show a0001c0017t0002g0026 a0001c0017t0002g0027 a0001c0017t0002g0073 a0001c0025t0001g0010 a0001c0025t0001g0162 a0001c0025t0001g0276 a0001c0030t0001g0045 a0001c0030t0001g0154 a0001c0035t0002g0121 a0001c0064t0001g0055 a0001c0065t0001g0252 a0001c0067t0001g0258 a0001c0069t0001g0071 a0001c0096t0001g0049 a0001c0097t0002g0085 a0002c0001t0001g0006 a0002c0001t0001g0019 a0002c0001t0001g0022 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0098 a0002c0001t0001g0100 a0002c0001t0001g0128 a0002c0001t0001g0145 a0002c0001t0001g0148 a0002c0001t0001g0152 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0164 a0002c0001t0001g0169 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0182 a0002c0001t0001g0187 a0002c0001t0001g0194 a0002c0001t0001g0201 a0002c0001t0001g0207 a0002c0001t0001g0209 a0002c0001t0001g0215 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0250 a0002c0001t0001g0255 a0002c0001t0001g0260 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0268 a0002c0001t0001g0272 a0002c0006t0001g0020 a0002c0006t0001g0057 a0002c0006t0001g0080 a0002c0006t0001g0094 a0002c0006t0001g0115 a0002c0006t0001g0160 a0002c0006t0001g0188 a0002c0006t0001g0242 a0002c0006t0001g0249 a0002c0020t0001g0130 a0002c0020t0001g0131 a0002c0020t0001g0133 a0002c0022t0001g0016 a0002c0022t0001g0117 a0002c0022t0001g0233 a0002c0055t0001g0229 a0002c0081t0001g0196 a0003c0004t0002g0031 a0003c0004t0002g0032 a0003c0004t0002g0058 a0003c0004t0002g0065 a0003c0004t0002g0070 a0003c0004t0002g0074 a0003c0004t0002g0079 a0003c0004t0002g0146 a0003c0004t0002g0226 a0003c0004t0002g0244 a0003c0004t0002g0257 a0003c0005t0002g0017 a0003c0005t0002g0029 a0003c0005t0002g0061 a0003c0005t0002g0067 a0003c0005t0002g0078 a0003c0005t0002g0082 a0003c0005t0002g0120 a0003c0005t0002g0124 a0003c0005t0002g0212 a0003c0008t0002g0003 a0003c0008t0002g0054 a0003c0008t0002g0113 a0003c0008t0002g0114 a0003c0008t0002g0193 a0003c0008t0002g0211 a0003c0008t0005g0167 a0003c0047t0009g0270 a0003c0056t0002g0217 a0003c0057t0002g0060 a0003c0074t0002g0033 a0003c0076t0002g0069 a0003c0084t0002g0051 a0003c0089t0002g0101 a0006c0018t0001g0023 a0006c0018t0001g0180 a0006c0018t0001g0181 a0006c0018t0001g0184 a0008c0009t0001g0103 a0008c0009t0001g0107 a0008c0009t0001g0138 a0008c0009t0001g0149 a0008c0009t0001g0170 a0008c0009t0001g0206 a0008c0073t0001g0241 a0011c0014t0001g0038 a0011c0014t0001g0039 a0011c0014t0001g0041 a0011c0014t0001g0042 a0011c0014t0001g0104 a0012c0024t0002g0004 a0012c0024t0002g0086 a0012c0024t0002g0126 a0012c0061t0002g0198 a0016c0033t0001g0007 a0016c0033t0001g0009 a0020c0028t0002g0056 a0020c0028t0002g0248 a0021c0079t0001g0273 a0024c0100t0002g0028 a0026c0098t0002g0173 a0027c0087t0001g0197 a0029c0082t0001g0185 a0030c0052t0002g0118 a0032c0048t0001g0119 a0033c0094t0001g0018 a0035c0091t0004g0024 a0038c0075t0001g0084 a0039c0088t0001g0137 a0041c0099t0002g0144 a0042c0078t0001g0132 a0046c0080t0001g0240 a0047c0054t0002g0068	140	211	0.6635	-202	c.301 others(19): Show c.3011+3757_3011+3958del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38			chr1	TogoVar
DLGAP2_chr8_732628_1713476	933693	AAGGGGAG others(195): Show AAGGGGAGGGTGAGGGCAGAGCCTGCTGTGGAGACACCTGGCCGTGGGCA CGAGGGGAGGGTGAGGGCAGAGCCTGCTGTGGAGACACCTGGCCGTGGGC ACGAGGGGAGGGTGAGGGCAGAGCCTGCTGTGGACACCTGGCCGTGGGCA CGAGGGGAGGGTGAGGGCAGAGCCTGCTATGGAGACACCTGGCCGTGGGC ACG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG03486.hp2 HG02647.hp1 HG02818.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0002c0006 a0001c0003 a0001c0009 a0002c0006	a0001c0003t0017 a0001c0009t0012 a0002c0006t0021 a0001c0003t0017 a0001c0009t0012 a0002c0006t0021	a0001c0003t0017g0004 a0001c0009t0012g0006 a0002c0006t0021g0014 a0001c0003t0017g0004 a0001c0009t0012g0006 a0002c0006t0021g0014	3	35	0.0857	-202	c.73+ others(17): Show c.73+25861_73+26062del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619488	CCCCCCTG others(195): Show CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTG CAGCCCGCTTTCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCCTGG TCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCTCTGCT CCCCTCCCTGTAGCTCCCTGCAGCCCCCTGCTCCCCTCCCTGCACCCCTT TTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18522.hp1 HG02717.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0135 a0001c0001t0001g0043 a0001c0001t0001g0135	2	244	0.0082	-202	c.-10 others(19): Show c.-107+5793_-107+5994del	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137565280	TCTGTCTG others(195): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	332	0.0030	-202	c.641 others(15): Show c.641-328_641-127del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565870	TGTCTGTG others(195): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	327	0.0031	-202	c.641 others(15): Show c.641-918_641-717del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565958	TGTCTGTG others(195): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0176 a0001c0001t0001g0223 a0001c0001t0001g0003 a0001c0001t0001g0176 a0001c0001t0001g0223	4	316	0.0127	-202	c.641 others(16): Show c.641-1006_641-805del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1122427	ATCTCTAT others(195): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTGTGT CTC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG02922.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0135 a0002c0002t0008g0136 a0002c0002t0008g0135 a0002c0002t0008g0136	2	135	0.0148	-202	c.156 others(19): Show c.1569+6396_1569+6597del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXOC2_chr6_480154_698139	601450	CCACACAC others(195): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	119	0.0084	-202	c.743 others(17): Show c.743-2427_743-2226del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602010	CCACACAC others(195): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0216 a0001c0001t0025g0216	1	253	0.0040	-202	c.743 others(17): Show c.743-2987_743-2786del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241807776	CCCCCCTC others(195): Show CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	307	0.0033	-202	c.36 others(11): Show c.3611_*3812del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3490		chr2	TogoVar
GLB1L3_chr11_134271379_134324564	134308220	CCATCACC others(195): Show CCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACC ACCACCACCACCAAATACCACCACCACCACCACCACCACCACTACCACCA CCATCACCATCACCATCACCATCATCACCATCACCACTACCACCACCACC ACCACCACCATCACCACCATCACCACCATCACCATCACCACCACCACCAT CAT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0215 a0002c0004t0003g0215	1	420	0.0024	-202	c.961 others(17): Show c.961+1015_962-1202del	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPCEF1_chr6_154149496_154361803	154357635	TATATATA others(195): Show TATATATAATATATATATATAATATATATATTATATATATATTATATATA TATTATATATAATATATATATTATATATATATTATATATATAATATATAT ATTATATATATTATATATATATAATATATAAAATATATATATTATATATA TAAAATATATATAATATATATAATATATATATAAAATATATATAATATAT ATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00735.hp1 others(53): Show HG00099.hp2 HG00544.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02523.hp1 HG02698.hp1 HG02886.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18906.hp2 NA18955.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18982.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19085.hp1 NA19085.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0002t0016 a0003c0004t0004 a0004c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(53): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0003g0034 a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0060 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0004g0014 a0001c0001t0004g0019 a0001c0001t0005g0030 a0001c0001t0005g0075 a0001c0001t0006g0006 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0009g0017 a0001c0001t0009g0079 a0001c0001t0021g0046 a0001c0001t0022g0029 a0001c0002t0001g0065 a0001c0002t0004g0015 a0001c0002t0004g0041 a0001c0002t0004g0064 a0001c0002t0013g0076 a0001c0002t0013g0077 a0001c0002t0016g0024 a0003c0004t0004g0066 a0003c0004t0004g0067 a0004c0006t0001g0051	56	250	0.2240	-202	c.-12 others(11): Show c.-1227_-1026del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		833		chr6	TogoVar
KIF3C_chr2_25921598_25987497	25962779	TATATATA others(195): Show TATATATATAATATATATTATATAATATATAATATATATAATATATAAAA TATATAAAATATATAATATATAATATAATATATAATATATATAATATATA AAATATATATAATATAAAATATATATAATATATAATATATATAATATATA ATACATATAATATATAATATATAATATATAATATATATAATATATAATAT ATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0168 a0001c0003t0002g0168	1	227	0.0044	-202	c.154 others(19): Show c.1546-6537_1546-6336del	KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7			chr2	TogoVar
MUSK_chr9_110663791_110811558	110701650	CTATTTAT others(195): Show CTATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01081.hp1 others(24): Show HG00438.hp2 HG00621.hp1 HG01081.hp1 HG02040.hp2 HG02145.hp2 HG02486.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG03209.hp2 HG03239.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp2 NA18964.hp2 NA18979.hp1 NA18989.hp2 NA19004.hp2 NA19062.hp1 NA19080.hp2 NA19083.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0011	a0001c0001 a0001c0002 a0001c0014 others(6): Show a0001c0001 a0001c0002 a0001c0014 a0002c0004 a0002c0012 a0004c0006 a0006c0009 a0007c0015 a0011c0017	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(18): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0002t0027 a0001c0014t0002 a0002c0004t0005 a0002c0004t0013 a0002c0012t0005 a0004c0006t0001 a0004c0006t0004 a0006c0009t0007 a0007c0015t0003 a0011c0017t0002	a0001c0001t0003g0177 a0001c0001t0006g0176 a0001c0001t0009g0173 others(24): Show a0001c0001t0003g0177 a0001c0001t0006g0176 a0001c0001t0009g0173 a0001c0001t0009g0175 a0001c0001t0023g0178 a0001c0001t0028g0021 a0001c0001t0030g0092 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0008g0076 a0001c0002t0012g0048 a0001c0002t0012g0050 a0001c0002t0027g0288 a0001c0014t0002g0097 a0002c0004t0005g0046 a0002c0004t0013g0047 a0002c0012t0005g0074 a0004c0006t0001g0319 a0004c0006t0004g0111 a0006c0009t0007g0020 a0006c0009t0007g0068 a0007c0015t0003g0066 a0011c0017t0002g0113	27	132	0.2045	-202	c.628 others(17): Show c.628+4190_628+4391del	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCAPG2_chr7_158626169_158709804	158667781	CCCTTACC others(195): Show CCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGC CTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18964.hp2 NA19064.hp2 HG00408.hp1 NA18964.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177	3	301	0.0100	-202	c.148 others(19): Show c.1480-3233_1480-3032del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOL10_chr2_10565754_10694975	10587058	TATATATA others(195): Show TATATATATACATATATATACATATATATACATATATATACACATATATA TACATATATATACATATATATACATATATACACATATATATACATATATA CACATATATACACATATATATACACATATATATACACATATATATACACA TATATATATACATATATATACATATATATATACATACATATATATATATA CAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	361	0.0028	-202	c.184 others(19): Show c.1844+1783_1844+1984del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
ODAD3_chr19_11415605_11440121	11424521	ATGTATAT others(195): Show ATGTATATATGTATATATGTGTATATATACCTATGTGTATATATGTATAT ATGTGTATATATACCTATGTGTATAAATATATATGTGTATATATACCTAT GTGTATATATGTATATATGTGTATATATACCTATGTGTATATATGTATAT ATGTGTATATATACCTATGTGTATATATGTATATATGTGTATATATACCT ATG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	380	0.0026	-202	c.964 others(15): Show c.964-694_964-493del	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OTUD7A_chr15_31470398_31875673	31510634	TACATATG others(195): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TAC	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	189	0.0053	-202	c.894 others(17): Show c.894-7018_894-6817del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PIR_chrX_15379799_15498333	15412486	ATATCTAT others(195): Show ATATCTATCTTTTCTTTAAGATAAAAACCATACAGGTGAAAAAAAGTCCC CTAACTGGTTGCTGCCAATCCATTTTCTACACGCGTAAATTGCACCTTTT TAGAATCTCCACTTAAAATCCTTCAATGGCTCCCTGTTCTCCCAGGACAA GCCCAAACTTCTGACAGACAAACTCTTCTCAATATGGTCCTACATTTCTC CAG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18972.hp1 NA19077.hp2 HG02129.hp1 NA18972.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0212 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0212	3	270	0.0111	-202	c.566 others(17): Show c.566-5138_566-4937del	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	6/9			chrX	TogoVar
POLG_chr15_89311320_89339824	89325053	TGAGAGAG others(195): Show TGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02257.hp2 others(4): Show HG01109.hp1 HG01243.hp2 HG02257.hp2 HG02559.hp1 HG02976.hp2 NA19030.hp2 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0006 a0010c0015 a0001c0001 a0001c0006 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0010c0015t0001	a0001c0001t0001g0017 a0001c0001t0001g0088 a0001c0001t0002g0104 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0088 a0001c0001t0002g0104 a0001c0006t0001g0090 a0010c0015t0001g0080	7	379	0.0185	-202	c.194 others(17): Show c.1949+195_1949+396del	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PRKD1_chr14_29571479_29932847	29826259	TATATATA others(195): Show TATATATACATATATATGATGGAATATATATATACATATATATGATGGAA TATATATATACATATATATGATGGAATATATATATACATATATATGATGG AATATATATATACATATATATGATGGAATATATATATACATATATATGAT GGAATATATATATACATATATGATGGAATATATATATACATATATATGAT GGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02165.hp2 others(7): Show HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02602.hp1 HG03654.hp1 NA18971.hp2 NA18975.hp2 NA18999.hp1 NA19012.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0004t0001 a0002c0005t0002	a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0053 others(7): Show a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0002g0111 a0001c0001t0003g0140 a0002c0004t0001g0134 a0002c0005t0002g0135	10	156	0.0641	-202	c.265 others(21): Show c.265-100787_265-100586del	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
RAD17_chr5_69364818_69419801	69377464	TATATATA others(195): Show TATATATATATACACACACACACATATATATACGTATATATATGTATATA TACGTATATATATGTGTATATATACGTATATATATGCATATATATGTATA TATATATGCATATATATGTATACATATATATATGCATATATATATGTATA CATATATATGCATATATATGTATACATATATATATGCATATATATATGTA TAC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	350	0.0029	-202	c.351 others(17): Show c.351+2764_351+2965del	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114043893	CCCCCGCC others(195): Show CCCCCGCCCCGCCTCACTCTCTGAGCCCCCCCGCCCCGCCTCACTCGCTG AGCTCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCT GAGCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTG AGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCT GAG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	62	0.0161	-202	c.278 others(17): Show c.278-3001_278-2800del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7186219	TATATAAA others(195): Show TATATAAACATAAACATATTTATATAAACATAAACATATTTATATAAACA TAAACATAAACATATTTATATAAATATAAACATAAACATATTTATATAAA TATAAACATAAACATATTTATATAAATATAAACATAAACATATTTATATA AATATAAACATAAACATATTTATATAAATATAAACATAAACATATTTATA TAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG02622.hp1 others(4): Show HG00140.hp2 HG01099.hp1 HG02622.hp1 HG03098.hp2 HG03453.hp2 HG03490.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0029 a0001c0001t0031	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0004g0033 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0004g0033 a0001c0001t0009g0036 a0001c0001t0013g0018 a0001c0001t0029g0001 a0001c0001t0031g0056	7	46	0.1522	-202	c.27+ others(19): Show c.27+134149_27+134350del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RORA_chr15_60483284_61234302	60816069	ATAAACAG others(195): Show ATAAACAGTATATGTATACTGTAAACAGTATATGTATTTATATACTGTAA ACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGT AAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACT GTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATA CTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0013	1	109	0.0092	-202	c.167 others(21): Show c.167-137585_167-137384del	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1288255	TCCCGTGT others(195): Show TCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01943.hp1 HG02165.hp2 others(3): Show HG01361.hp1 HG01943.hp1 HG02165.hp2 NA18612.hp2 NA18980.hp2 NA19072.hp2	a0002 a0027 a0002 a0027	a0002c0002 a0002c0003 a0027c0027 a0002c0002 a0002c0003 a0027c0027	a0002c0002t0001 a0002c0003t0002 a0002c0003t0005 others(1): Show a0002c0002t0001 a0002c0003t0002 a0002c0003t0005 a0027c0027t0001	a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0067 others(3): Show a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0067 a0002c0003t0002g0107 a0002c0003t0005g0003 a0027c0027t0001g0022	6	270	0.0222	-202	c.166 others(17): Show c.1662+240_1662+441del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444733	ACGTACGA others(195): Show ACGTACGAATATATATACACATATATACGTACGAATATATATACACATAT ATACGTACGAATATATATACACATATATTCGTACGAATATATATACACAT ATATTCGTACGAATATATATACACATATATTCGTACGAATATATATACAC ATATATTCGTACGAATATATATACATATATTCGTACGAATATACACATAT ATT	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	276	0.0036	-202	c.114 others(19): Show c.1140+1824_1140+2025del	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SEMA3E_chr7_83358238_83654139	83389330	AAAATCAA others(195): Show AAAATCAACAAAATGAGAAATGGCTTCCACTTGGCCGAGATGGTGTTGTA TAAAGATTATTATACAAGTGAGATGAGGATAAGGAAACTACAATCAAATA ATTCTAGATAAGCAATGTCAAGAACTGAGTGCAAAAATATCGCTGAAAGT TATTGGAAACATACATTTAAAAAGAAAGACATCACATTCTCCAGCAAGGT TTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG01243.hp1 others(26): Show HG00438.hp1 HG00735.hp2 HG01243.hp1 HG01496.hp2 HG01993.hp2 HG02027.hp1 HG02083.hp1 HG02300.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18963.hp1 NA18984.hp2 NA19002.hp1 NA19012.hp2 NA19054.hp2 NA19058.hp1 NA19074.hp2 NA19077.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0013 a0002c0004 a0004c0013	a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 others(6): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0009 a0002c0004t0015 a0002c0004t0051 a0002c0004t0057 a0002c0004t0061 a0004c0013t0002	a0002c0004t0001g0106 a0002c0004t0001g0124 a0002c0004t0001g0135 others(26): Show a0002c0004t0001g0106 a0002c0004t0001g0124 a0002c0004t0001g0135 a0002c0004t0001g0152 a0002c0004t0002g0045 a0002c0004t0002g0054 a0002c0004t0002g0060 a0002c0004t0002g0088 a0002c0004t0002g0091 a0002c0004t0002g0110 a0002c0004t0002g0111 a0002c0004t0002g0113 a0002c0004t0002g0117 a0002c0004t0002g0121 a0002c0004t0002g0122 a0002c0004t0002g0123 a0002c0004t0002g0142 a0002c0004t0002g0160 a0002c0004t0002g0164 a0002c0004t0002g0167 a0002c0004t0002g0168 a0002c0004t0003g0087 a0002c0004t0009g0188 a0002c0004t0015g0184 a0002c0004t0015g0196 a0002c0004t0051g0137 a0002c0004t0057g0048 a0002c0004t0061g0185 a0004c0013t0002g0153	29	224	0.1295	-202	c.166 others(19): Show c.1668-2482_1668-2281del	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SHOX_chrX_625791_656584	626371	CTCTCTTT others(195): Show CTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCT CTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTGTCTAT CTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTC TCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTTTTTCTCTGTCT CTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00558.hp1 others(45): Show HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG01175.hp1 HG01175.hp2 HG01496.hp2 HG01517.hp1 HG01975.hp2 HG02165.hp1 HG02273.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02976.hp1 HG03041.hp2 HG03239.hp1 HG03516.hp2 HG03834.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18964.hp1 NA18964.hp2 NA18981.hp1 NA18985.hp2 NA18997.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19081.hp1 NA19086.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0030 a0001c0001t0038 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0064 a0001c0001t0071 a0001c0001t0075 a0001c0001t0083 a0001c0001t0087 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0105 a0001c0001t0109 a0001c0001t0110 a0001c0001t0114 a0001c0001t0124 a0001c0001t0126 a0001c0001t0131 a0001c0001t0133 a0001c0001t0135 a0001c0001t0144 a0001c0001t0155 a0001c0001t0158 a0001c0001t0161 a0001c0001t0174	a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0002g0047 others(45): Show a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0002g0047 a0001c0001t0003g0187 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0009g0144 a0001c0001t0010g0112 a0001c0001t0012g0010 a0001c0001t0012g0145 a0001c0001t0018g0058 a0001c0001t0020g0052 a0001c0001t0020g0062 a0001c0001t0021g0061 a0001c0001t0030g0043 a0001c0001t0038g0010 a0001c0001t0045g0097 a0001c0001t0046g0028 a0001c0001t0047g0059 a0001c0001t0048g0110 a0001c0001t0050g0111 a0001c0001t0055g0146 a0001c0001t0056g0088 a0001c0001t0057g0006 a0001c0001t0060g0006 a0001c0001t0064g0053 a0001c0001t0071g0137 a0001c0001t0075g0050 a0001c0001t0083g0150 a0001c0001t0087g0044 a0001c0001t0096g0039 a0001c0001t0097g0104 a0001c0001t0099g0206 a0001c0001t0100g0096 a0001c0001t0105g0057 a0001c0001t0109g0181 a0001c0001t0110g0040 a0001c0001t0114g0042 a0001c0001t0124g0045 a0001c0001t0126g0162 a0001c0001t0131g0188 a0001c0001t0133g0135 a0001c0001t0135g0109 a0001c0001t0144g0148 a0001c0001t0155g0008 a0001c0001t0158g0184 a0001c0001t0161g0199 a0001c0001t0174g0128	48	218	0.2202	-202	c.-45 others(11): Show c.-4526_-4325del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4419		chrX	TogoVar
SIGIRR_chr11_400716_419999	411968	AGGGGGGT others(195): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTGGGGGGGGGGGGT GCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCTG ACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGG GGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	225	0.0044	-202	c.-15 others(19): Show c.-153-2143_-153-1942del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SORCS2_chr4_7187538_7747827	7441908	CCCCCTCC others(195): Show CCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATC ACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCACCTCCTCTCACAG CCCAGGTCACCATCCACCCCCTCCCCCAGCCCAGATCACCCTCCATCCCC TCCCCCAGCCCAGATCACCCTCCACCCCCTCCTTCAGCCCAGATCACCCT CCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0008 a0008	a0008c0056 a0008c0056	a0008c0056t0018 a0008c0056t0018	a0008c0056t0018g0061 a0008c0056t0018g0061	1	165	0.0061	-202	c.548 others(19): Show c.548+45558_548+45759del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
STARD13_chr13_33098137_33290755	33177784	GAAGGAAG others(195): Show GAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0148 a0001c0005t0005g0148	1	300	0.0033	-202	c.170 others(19): Show c.170-10364_170-10163del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
TMEM181_chr6_158555091_158640429	158571318	GATCTCCT others(195): Show GATCTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGA TTATAGGCGTGATCTGCCCGCCTTGGCCTTGTGATCTGCCCGCCTTGGCC TCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCACGCCTGGCTGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTGGCCAGGATGGTC TCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp1 others(1): Show HG01884.hp1 HG02055.hp2 HG02258.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0001t0005g0024	4	331	0.0121	-202	c.9-2 others(13): Show c.9-2089_9-1888del	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM181_chr6_158555091_158640429	158571331	TGTGATCC others(195): Show TGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAT CTGCCCGCCTTGGCCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTG AGATTACAGGCCTGAGCCACCACGCCTGGCTGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCATCGTGTTGGCCAGGATGGTCTCAATCTCCTGAC CTC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	324	0.0031	-202	c.9-2 others(13): Show c.9-2077_9-1876del	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM181_chr6_158555091_158640429	158571343	ACCTTGGC others(195): Show ACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGATCTGCCCGCCTTG GCCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCC TGAGCCACCACGCCTGGCTGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCATCGTGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGC CCG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0131 a0001c0001t0026g0131	1	318	0.0031	-202	c.9-2 others(13): Show c.9-2044_9-1843del	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results