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
C4A_chr6_31977057_32007681	32004225	AGCCAGGG others(85): Show AGCCAGGGTCTTGACTCTGGCTCTGCAGTAGCACAGTCTGGAAAAGCTCT GAGGGGAGAGAGACCCCCACTGGTCCGAGGGTCTGGCACAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	322	0.0031	-92	c.16 others(103): Show c.1686_*1777delGCCAGGGTCTTGACTCTGGCTCTGCAGTAGCACA GTCTGGAAAAGCTCTGAGGGGAGAGAGACCCCCACTGGTCCGAGGGTCTG GCACAGAG	C4A	ENSG00000244731.10	transcript	ENST00000428956.7	protein_coding		1545		chr6	TogoVar
C7orf50_chr7_992006_1143247	1127627	TGTCACCC others(85): Show TGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTGATCCCACC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	1	310	0.0032	-92	c.-1- others(105): Show c.-1-333_-1-242delGGTGGGATCAGCCGAGATTGTGCCACTGCACT CCAGCCCGGGTGACGGTGGGATGAGCCGAGATTGTGCCACTGCACTCCAG CCTGGGTGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(85): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(52): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp2 HG01192.hp1 HG01256.hp1 HG01928.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02083.hp2 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02572.hp2 HG02602.hp2 HG02723.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp2 NA19011.hp1 NA19064.hp1 NA19080.hp1 NA19085.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0008 a0001c0001 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0023 a0002c0002t0003 a0005c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(52): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0003g0304 a0001c0001t0006g0030 a0001c0001t0006g0059 a0001c0001t0009g0120 a0001c0001t0013g0010 a0001c0001t0013g0012 a0001c0001t0013g0015 a0001c0001t0023g0072 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0005c0008t0001g0051	55	269	0.2045	-92	c.-1- others(105): Show c.-1-341_-1-250delCGGGTGACGGTGGGATCAGCCGAGATTGTGCC ACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATTGTGCCACTG CACTCCAGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127669	CCACCGTC others(85): Show CCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTGATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	197	0.0051	-92	c.-1- others(105): Show c.-1-375_-1-284delAGATGAGCTGAGATCGCGCCACTGCACTCCAG CCCGGGTGACGGTGGGATCAGCCGAGATTGTGCCACTGCACTCCAGCCCG GGTGACGGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127745	GCGATCTC others(85): Show GCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGA TCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0311 a0001c0001t0005g0311	1	291	0.0034	-92	c.-1- others(105): Show c.-1-451_-1-360delTGCCACTGCACTCCAGCCCGGGTGACGGTGGG ATCAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACGGTGAGATGA GCTGAGATCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127747	GATCTCAG others(85): Show GATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATC TCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	282	0.0035	-92	c.-1- others(105): Show c.-1-453_-1-362delTGTGCCACTGCACTCCAGCCCGGGTGACGGTG GGATCAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACGGTGAGAT GAGCTGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127753	AGCTCATC others(85): Show AGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCT GATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0318 a0001c0001t0012g0318	1	247	0.0040	-92	c.-1- others(105): Show c.-1-459_-1-368delCGAGATTGTGCCACTGCACTCCAGCCCGGGTG ACGGTGGGATCAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACGG TGAGATGAGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128023	ACGATCTC others(85): Show ACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCG	A A	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	274	0.0036	-92	c.-1- others(105): Show c.-1-729_-1-638delCGCCACTGCACTCCAGCCCGGGTGACGGTGAG ATGAGCCGAGATCGCGCCACTGCACTCCAGCCCGGGTGACGGTGGGATGA GCCGAGATCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128223	TCACCGTC others(85): Show TCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02132.hp2 HG02027.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0070 a0001c0001t0001g0071	2	223	0.0090	-92	c.-1- others(105): Show c.-1-929_-1-838delGGATGAGCCGAGATTGTGCCACTGCACTCCAG CCCGGGTGACGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCG GGTGACGGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1129026	CGGGCTGG others(85): Show CGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGG CTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0318 a0001c0001t0012g0318	1	323	0.0031	-92	c.-1- others(107): Show c.-1-1732_-1-1641delAGGTGACGGTGGGATGAGCCGAGATGGCGC CACTGCACTCCAGCCCGGGTGATGGTGGGATGAGCCGAGATGGCGCCACT GCACTCCAGCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1129053	GGCTCATC others(85): Show GGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCT CATCCCACCGTCACCTGGGCTGGAGTGCAGTGGCGCGATCTCA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	323	0.0031	-92	c.-1- others(107): Show c.-1-1759_-1-1668delTGAGATCGCGCCACTGCACTCCAGCCCAGG TGACGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGAT GGTGGGATGAGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1129061	CCACCATC others(85): Show CCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CGTCACCTGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 NA20300.hp2 HG01123.hp1 HG01255.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0228 a0001c0001t0002g0234 a0001c0001t0029g0225 a0001c0001t0002g0228 a0001c0001t0002g0234 a0001c0001t0029g0225	3	314	0.0096	-92	c.-1- others(107): Show c.-1-1767_-1-1676delAGATGAGCTGAGATCGCGCCACTGCACTCC AGCCCAGGTGACGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCC CGGGTGATGGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNG8_chr19_53957937_53995215	53962674	AGCGGTGG others(85): Show AGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGATGAC TTTCTTGGGCAGAAGACAAGAGTGGAGAGAGATTTCATCTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00673.hp1 others(4): Show HG00609.hp1 HG00609.hp2 HG00673.hp1 HG02040.hp2 HG03654.hp2 HG06807.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0035 a0001c0001t0098 a0001c0001t0101	a0001c0001t0001g0237 a0001c0001t0002g0022 a0001c0001t0004g0230 others(3): Show a0001c0001t0001g0237 a0001c0001t0002g0022 a0001c0001t0004g0230 a0001c0001t0035g0028 a0001c0001t0098g0259 a0001c0001t0101g0011	7	367	0.0191	-92	c.-46 others(101): Show c.-468_-377delGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGG ATGGTGGGATGACTTTCTTGGGCAGAAGACAAGAGTGGAGAGAGATTTCA TCTTAT	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		262		chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12522800	AGACGGGG others(85): Show AGACGGGGCGGCTGGCCGGGCGGAGGCGCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0062 a0001c0001t0026 a0001c0001t0062	a0001c0001t0026g0143 a0001c0001t0062g0144 a0001c0001t0026g0143 a0001c0001t0062g0144	2	214	0.0093	-92	c.93- others(109): Show c.93-30402_93-30311delAGGCGCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44409091	ATATATAT others(85): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19030.hp1 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0105 a0001c0001t0001g0106	2	198	0.0101	-92	c.376 others(111): Show c.376+18792_376+18883delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATGTATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CC2D1A_chr19_13901201_13935879	13925953	TATATATA others(85): Show TATATATACACGTATATATATGTGTATATATATATACATATATGTGTGTA TATATATATATACGTATATATATGTGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0069 a0004c0005t0002g0069	1	368	0.0027	-92	c.194 others(109): Show c.1941-562_1941-471delTATATACACGTATATATATGTGTATATA TATATACATATATGTGTGTATATATATATATACGTATATATATGTGTATA TATATATATATACA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC102B_chr18_68793080_69060189	68956372	AAATGTAT others(85): Show AAATGTATAATATATAATATATATATAAATATATTTTATATATATTATAT ATATTATACATTTTATATATATTATATATATTATATATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01106.hp1 others(12): Show HG00140.hp1 HG00735.hp2 HG01106.hp1 HG01358.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp1 HG02698.hp2 HG04115.hp1 NA18961.hp1 NA19001.hp2 NA19007.hp1 NA19083.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0017	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0005 a0003c0004 a0003c0011 a0006c0012 a0007c0010 a0017c0029	a0001c0001t0003 a0001c0003t0001 a0001c0007t0001 others(9): Show a0001c0001t0003 a0001c0003t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0004 a0002c0005t0001 a0003c0004t0001 a0003c0011t0001 a0003c0011t0004 a0006c0012t0001 a0007c0010t0002 a0017c0029t0001	a0001c0001t0003g0044 a0001c0001t0003g0073 a0001c0003t0001g0068 others(12): Show a0001c0001t0003g0044 a0001c0001t0003g0073 a0001c0003t0001g0068 a0001c0007t0001g0049 a0002c0002t0001g0056 a0002c0002t0004g0149 a0002c0005t0001g0198 a0003c0004t0001g0045 a0003c0004t0001g0064 a0003c0004t0001g0076 a0003c0011t0001g0103 a0003c0011t0004g0142 a0006c0012t0001g0211 a0007c0010t0002g0145 a0017c0029t0001g0114	15	205	0.0732	-92	c.126 others(113): Show c.1264-54560_1264-54469delATGTATAATATATAATATATATAT AAATATATTTTATATATATTATATATATTATACATTTTATATATATTATA TATATTATATATTTTATA	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC14_chr3_123908422_123966229	123959737	CTAGGTAC others(85): Show CTAGGTACTAGATGTGTTCTTTGCTATTGGGGCCTCCAATCTTTTTTCAT ATGCATTTTTTACTTAGTCATAATACCTAGATATTTGCAATTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00544.hp1 others(99): Show HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03209.hp1 HG03471.hp2 HG03669.hp1 HG03688.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp2 NA19091.hp2 NA20300.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0010 a0008c0017 a0001c0001 a0007c0010 a0008c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0007c0010t0001 a0008c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(68): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0003g0042 a0001c0001t0003g0230 a0001c0001t0007g0018 a0001c0001t0007g0224 a0001c0001t0007g0239 a0001c0001t0007g0241 a0001c0001t0007g0246 a0001c0001t0016g0261 a0007c0010t0001g0268 a0008c0017t0001g0269	102	366	0.2787	-92	c.30+ others(107): Show c.30+1315_30+1406delAAATTGCAAATATCTAGGTATTATGACTAA GTAAAAAATGCATATGAAAAAAGATTGGAGGCCCCAATAGCAAAGAACAC ATCTAGTACCTA	CCDC14	ENSG00000175455.16	transcript	ENST00000409697.8	protein_coding	1/12			chr3	TogoVar
CD163L1_chr12_7349960_7449153	7380287	GTGTGTGT others(85): Show GTGTGTGTGTGTGTGTATACACATATACATACATATATGTATGTATACAC GTATACATACATGTATGTGTGTATACGCGTATACATACATGTA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	378	0.0026	-92	c.205 others(110): Show c.2051-1081_2051-990delTACATGTATGTATACGCGTATACACAC ATACATGTATGTATACGTGTATACATACATATATGTATGTATATGTGTAT ACACACACACACACA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	8/19			chr12	TogoVar
CDH23_chr10_71391920_71820947	71760155	ATATATGT others(85): Show ATATATGTATATACATATATATGTGTGTATATATATGTATATACATATAT ATGTGTGTATATATGTGTATATATATGTATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0096 a0001c0096	a0001c0096t0001 a0001c0096t0001	a0001c0096t0001g0193 a0001c0096t0001g0193	1	194	0.0052	-92	c.484 others(113): Show c.4846-17521_4846-17430delATGTATATACATATATATGTGTGT ATATATATGTATATACATATATATGTGTGTATATATGTGTATATATATGT ATATACATATATATGTAT	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH5_chr16_66361691_66409784	66380097	AGGGGTAG others(85): Show AGGGGTAGGTGGTGGTGGTGATCATGGTGATGGTGGTGATGATAAAGGGG TAGGTGTTGGTGGTGATCACGGTGATGGTGGTGATGATAAAGG	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0150 a0002c0003t0002g0150	1	402	0.0025	-92	c.210 others(107): Show c.210+553_210+644delGGTAGGTGGTGGTGGTGATCATGGTGATGG TGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGTGGTG ATGATAAAGGGG	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CELF2_chr10_11012872_11341675	11284580	ATGGATGG others(85): Show ATGGATGGTGGGTGAATGATGGATAGATAGATGGATGGGTGGGAGGATCC ATACCACAATGAGGGATGGATGGGTGTGCTGATGAAGGATGTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0194 a0001c0003t0044g0194	1	190	0.0053	-92	c.842 others(109): Show c.842-3835_842-3744delGATGGTGGGTGAATGATGGATAGATAGA TGGATGGGTGGGAGGATCCATACCACAATGAGGGATGGATGGGTGTGCTG ATGAAGGATGTGTG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP410_chr21_44323944_44344390	44338884	CCCGGCTC others(85): Show CCCGGCTCCTCCCTCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCGCCCTC TCCCCGCCCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0282 a0001c0002t0002g0282	1	434	0.0023	-92	c.77+ others(105): Show c.77+142_77+233delAGGGAGGAGCCGGGGCGGGGAGAGGGCGGAGC CGGGGCGGGGAGAGGGCGGAGCCGGGGCGGGGAGAGGGCGGAGCCGGAGG GAGGAGCCGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6			chr21	TogoVar
CHCHD6_chr3_126699240_126965420	126862730	CCTCCTCC others(85): Show CCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACCACCTCCTCC TCCTCCACCATCACCACCTTCCCCTCTACCACCATCACCAACT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	214	0.0047	-92	c.495 others(111): Show c.495+10002_495+10093delTCCTCCTCCACCATCACCACCTCCTC CTCCACCATCACCACCTCCTCCTCCTCCACCATCACCACCTTCCCCTCTA CCACCATCACCAACTC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(85): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA20300.hp2 HG02922.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0012 a0001c0001t0001g0037	2	180	0.0111	-92	c.131 others(111): Show c.131-13981_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757442	GAAAGAAA others(85): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	239	0.0042	-92	c.131 others(111): Show c.131-13969_131-13878delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CKAP5_chr11_46738048_46851280	46846992	TACAGTGG others(85): Show TACAGTGGTTGGAGGAATATAACATACAGACTAGTCACTAAAATTCAAAG CAGTGTAATAACTGTATAAATGAAAAGCTATAAATGCTTAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	292	0.0034	-92	c.-90 others(101): Show c.-902_-811delCTCTAAGCATTTATAGCTTTTCATTTATACAGTTAT TACACTGCTTTGAATTTTAGTGACTAGTCTGTATGTTATATTCCTCCAAC CACTGT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding		713		chr11	TogoVar
CLPX_chr15_65143219_65190342	65145938	AAATATAT others(85): Show AAATATATAAATATATATATAAAATATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATATAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	188	0.0053	-92	c.47 others(103): Show c.4793_*4884delATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATTTTATATATATATT TATATATT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2280		chr15	TogoVar
CNTN4_chr3_2093866_3062959	2881554	AAGTGAGT others(85): Show AAGTGAGTGAAATCATTTCTCTTTGTGATTGCACCTGTCCCCCATCCAGT GAGTGAAATCATTTCTCTTTGTGATTGCACCTGTCCCCCATCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02165.hp1 others(6): Show HG01243.hp2 HG01884.hp1 HG02165.hp1 HG02523.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA18906.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0021 a0001c0023 a0001c0025 a0009c0012	a0001c0001t0004 a0001c0002t0002 a0001c0004t0001 others(6): Show a0001c0001t0004 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0004 a0001c0021t0002 a0001c0023t0004 a0001c0025t0001 a0009c0012t0009	a0001c0001t0004g0042 a0001c0002t0002g0102 a0001c0004t0001g0021 others(6): Show a0001c0001t0004g0042 a0001c0002t0002g0102 a0001c0004t0001g0021 a0001c0004t0002g0072 a0001c0006t0004g0004 a0001c0021t0002g0025 a0001c0023t0004g0041 a0001c0025t0001g0099 a0009c0012t0009g0093	9	22	0.4091	-92	c.653 others(109): Show c.653-1405_653-1314delGTGAGTGAAATCATTTCTCTTTGTGATT GCACCTGTCCCCCATCCAGTGAGTGAAATCATTTCTCTTTGTGATTGCAC CTGTCCCCCATCCA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587983	CACCCACA others(85): Show CACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	340	0.0029	-92	c.928 others(107): Show c.928-670_928-579delCGTGTTACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGA TACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF2_chr14_92116969_92177145	92173329	ATACGTAT others(85): Show ATACGTATATATATATGTATATATATATACGTATATATATATGTATATAT ATACGTATATATATATATACACATATGTATATATATATATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01168.hp2 HG01361.hp2 others(14): Show HG00544.hp1 HG01168.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG03041.hp2 HG03654.hp1 NA18945.hp2 NA18954.hp1 NA18960.hp1 NA18984.hp1 NA19003.hp2 NA19063.hp2 NA19066.hp2 NA19081.hp2 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0001t0047 a0001c0001t0142 a0001c0001t0151 a0001c0001t0153 a0001c0001t0157 a0001c0001t0160 a0001c0001t0164 a0001c0001t0166	a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0004g0007 others(14): Show a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0004g0007 a0001c0001t0010g0092 a0001c0001t0018g0010 a0001c0001t0018g0077 a0001c0001t0019g0107 a0001c0001t0026g0148 a0001c0001t0047g0028 a0001c0001t0047g0087 a0001c0001t0142g0052 a0001c0001t0151g0062 a0001c0001t0153g0025 a0001c0001t0157g0100 a0001c0001t0160g0065 a0001c0001t0164g0139 a0001c0001t0166g0098	17	385	0.0442	-92	c.11 others(105): Show c.11586_*11677delTACGTATATATATATGTATATATATATACGTA TATATATATGTATATATATACGTATATATATATATACACATATGTATATA TATATATGTG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1185		chr14	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667008	AAAGAAAG others(85): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp1 HG02922.hp2 others(5): Show HG00597.hp2 HG01243.hp1 HG02922.hp2 HG03041.hp2 HG03942.hp2 NA18953.hp2 NA18959.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0017 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0004 a0002c0003t0007	a0001c0001t0001g0004 a0001c0001t0001g0065 a0001c0001t0001g0129 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0065 a0001c0001t0001g0129 a0001c0001t0001g0154 a0001c0001t0001g0213 a0001c0001t0017g0122 a0001c0002t0004g0144 a0002c0003t0007g0128	8	179	0.0447	-92	c.-39 others(113): Show c.-391-65235_-391-65144delCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTCCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795888	TGTACAGA others(85): Show TGTACAGATATATATATCATGTACAGATATAGATATCTATCATGTACAGA TATAGATATCTATCATGTACAGATATAGATATCTATCATGTAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01123.hp1 HG02486.hp1 others(2): Show HG00438.hp1 HG01123.hp1 HG02486.hp1 HG02965.hp1 HG03579.hp2	a0001 a0006 a0017 others(2): Show a0001 a0006 a0017 a0024 a0032	a0001c0094 a0006c0008 a0017c0101 others(2): Show a0001c0094 a0006c0008 a0017c0101 a0024c0052 a0032c0024	a0001c0094t0002 a0006c0008t0082 a0017c0101t0008 others(2): Show a0001c0094t0002 a0006c0008t0082 a0017c0101t0008 a0024c0052t0049 a0032c0024t0077	a0001c0094t0002g0110 a0006c0008t0082g0126 a0017c0101t0008g0023 others(2): Show a0001c0094t0002g0110 a0006c0008t0082g0126 a0017c0101t0008g0023 a0024c0052t0049g0098 a0032c0024t0077g0104	5	124	0.0403	-92	c.819 others(111): Show c.819-41938_819-41847delGTACATGATAGATATCTATATCTGTA CATGATAGATATCTATATCTGTACATGATAGATATCTATATCTGTACATG ATATATATATCTGTAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CTDP1_chr18_79674803_79759503	79694301	ATGTCCAC others(85): Show ATGTCCACGGGGTGGGGTGGTCGGAGCAGCCCAGCTGGGACGGGAGTGTG GGGGTTGCGAGCTCCTAGGGACACTGAGTGCCGGGCAGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0084 a0001c0003t0001g0085	2	376	0.0053	-92	c.315 others(107): Show c.315-918_315-827delACGGGGTGGGGTGGTCGGAGCAGCCCAGCT GGGACGGGAGTGTGGGGGTTGCGAGCTCCTAGGGACACTGAGTGCCGGGC AGCCTCGTGTCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79694315	GGGTGGTC others(85): Show GGGTGGTCGGAGCAGCCCAGCTGGGACGGGAGTGTGGGGGTTGCGAGCTC CTAGGGACACTGAGTGCCGGGCAGCCTCGTGTCCGCGGGGCGC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0001 a0005c0024t0001	a0005c0024t0001g0364 a0005c0024t0001g0364	1	376	0.0027	-92	c.315 others(107): Show c.315-892_315-801delAGCTGGGACGGGAGTGTGGGGGTTGCGAGC TCCTAGGGACACTGAGTGCCGGGCAGCCTCGTGTCCGCGGGGCGCGGTGG TCGGAGCAGCCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNND2_chr5_10966836_11909446	11641653	TGTGTATA others(85): Show TGTGTATATACATATACGTGTGTATATACATATACGTGTGTGTATATACA TATACGTGTGTGTATACATATACGTGTGTGTATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	24	0.0417	-92	c.175 others(111): Show c.175-76689_175-76598delGTATATGTATATACACACACGTATAT GTATACACACACGTATATGTATATACACACACGTATATGTATATACACAC GTATATGTATATACAC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CXCL13_chr4_77600820_77616834	77613100	GCATTCAA others(85): Show GCATTCAAATTCAGCCAGTGCGGAACCAGAATCCATGTGCCTAACTATTG TACTGTGCTGACTCTATAGAAGGTTGGTATCATCAGTAGAAAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	364	0.0027	-92	c.20 others(103): Show c.2062_*2153delCATTCAAATTCAGCCAGTGCGGAACCAGAATCCA TGTGCCTAACTATTGTACTGTGCTGACTCTATAGAAGGTTGGTATCATCA GTAGAAAC	CXCL13	ENSG00000156234.8	transcript	ENST00000682537.1	protein_coding		1267		chr4	TogoVar
DCAKD_chr17_45018344_45056632	45051801	CCGGGAGA others(85): Show CCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGG GCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01496.hp1 NA18968.hp2 others(1): Show HG01256.hp1 HG01496.hp1 NA18968.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0013g0077	4	406	0.0099	-92	c.-64 others(101): Show c.-647_-556delCGTCCGCCCGCCCGCCCAACCTCTCCCGGCCCCGCC CGCCCGCCCGCCCAACCTCTCCCGGCCCCGCCCGCCCGCCCGCCCAACCT CTCCCG	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		170		chr17	TogoVar
DHRSX_chrX_2214506_2505976	2228010	GAGGGAGG others(85): Show GAGGGAGGGAGGGAGGGAGGGAGGAAGGGGGGAAGGGAGGGAGGGAGGGA GGGAGGAAGGGAGAGGGGAAGGGAGGGAGGGAAGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp1 HG02486.hp2 HG02630.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0008 a0002c0005t0004 a0002c0005t0008	a0002c0005t0004g0030 a0002c0005t0008g0007 a0002c0005t0004g0030 a0002c0005t0008g0007	2	47	0.0426	-92	c.805 others(109): Show c.805-6873_805-6782delTCCTCCCTCCTTCCCTCCCTCCCTTCCC CTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCCCCCTTCCTCCCTCC CTCCCTCCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIP2C_chr10_269201_694668	540980	GTGGGGAG others(85): Show GTGGGGAGCCACAACACCCGATGCTGGGGAGCCACAACACCCGATGCTGG GGAGCCACAACACCCGATGCTGGGGAGCCACAACACCCGATGC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03225.hp2 NA18970.hp2 others(2): Show HG01081.hp2 HG03225.hp2 NA18970.hp2 NA19007.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0015 a0001c0004 a0001c0007 a0001c0015	a0001c0004t0001 a0001c0007t0002 a0001c0015t0002 a0001c0004t0001 a0001c0007t0002 a0001c0015t0002	a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0007t0002g0076 others(2): Show a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0015t0002g0082	5	8	0.6250	-92	c.86- others(109): Show c.86-54542_86-54451delGCATCGGGTGTTGTGGCTCCCCAGCATC GGGTGTTGTGGCTCCCCAGCATCGGGTGTTGTGGCTCCCCAGCATCGGGT GTTGTGGCTCCCCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	587905	TGAAACCC others(85): Show TGAAACCCCACATCCACACCAGCCACTGCCTCAGCCCTGACCCTGCGGAA ACCCCACATCCACACCAGGCACTGCCTCAGCCCTGACCCTGCG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01934.hp1 HG02040.hp1 others(6): Show HG00673.hp2 HG01934.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02155.hp2 HG02300.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0002t0001g0030 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0029 a0001c0002t0003g0031	9	88	0.1023	-92	c.86- others(111): Show c.86-101467_86-101376delCGCAGGGTCAGGGCTGAGGCAGTGCC TGGTGTGGATGTGGGGTTTCCGCAGGGTCAGGGCTGAGGCAGTGGCTGGT GTGGATGTGGGGTTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	587997	GGAAACCC others(85): Show GGAAACCCCACATCCACACCAGCCACTGCCTCAGCCCTGACCCTGCGGAA ACCCCACATCCACACCAGGCACTGCCTCAGCCCTCACCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03225.hp2 NA18970.hp2 others(1): Show HG00609.hp1 HG03225.hp2 NA18970.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0011 a0001c0015 a0001c0004 a0001c0011 a0001c0015	a0001c0004t0001 a0001c0011t0003 a0001c0015t0002 a0001c0004t0001 a0001c0011t0003 a0001c0015t0002	a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0011t0003g0088 others(1): Show a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0011t0003g0088 a0001c0015t0002g0082	4	62	0.0645	-92	c.85+ others(116): Show c.85+101405_86-101467delAGGAGGGTGAGGGCTGAGGCAGTGCC TGGTGTGGATGTGGGGTTTCCGCAGGGTCAGGGCTGAGGCAGTGGCTGGT GTGGATGTGGGGTTTCCinsT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	587997	GGAAACCC others(85): Show GGAAACCCCACATCCACACCAGCCACTGCCTCAGCCCTGACCCTGCGGAA ACCCCACATCCACACCAGGCACTGCCTCAGCCCTCACCCTCCT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	59	0.0169	-92	c.85+ others(111): Show c.85+101405_86-101468delAGGAGGGTGAGGGCTGAGGCAGTGCC TGGTGTGGATGTGGGGTTTCCGCAGGGTCAGGGCTGAGGCAGTGGCTGGT GTGGATGTGGGGTTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3674754	CTCACCTC others(85): Show CTCACCTCCACTATCAGTACCGAGTCCACCACAATCATCACCCCCATTCA CCTCCACTATCAGTACCGAGTCCACCACAATCATCACCCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0013 a0001c0002t0011g0013	1	33	0.0303	-92	c.159 others(113): Show c.1591+54289_1591+54380delATGGGGGTGATGATTGTGGTGGAC TCGGTACTGATAGTGGAGGTGAATGGGGGTGATGATTGTGGTGGACTCGG TACTGATAGTGGAGGTGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1014889	GTGTGTAT others(85): Show GTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	40	0.0250	-92	c.73+ others(111): Show c.73+106929_73+107020delATGACCAGGACAGACGGCGCCTCCAC TGTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACA GACGCCTCCACTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1393423	CGCCACCT others(85): Show CGCCACCTCCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCC ACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0001 a0001c0011t0015g0001	1	40	0.0250	-92	c.107 others(113): Show c.107-107915_107-107824delCATTGAGTGCTTACTGAGCGCCAC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCC TCGTCCTCCAGAGTCGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1393764	TGAGTCGT others(85): Show TGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	-92	c.107 others(113): Show c.107-107480_107-107389delTCCCTCCTCGTCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1398371	TCCCTCCT others(85): Show TCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCC TCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG01496.hp1 others(8): Show HG00639.hp1 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG02647.hp2 HG02698.hp2 HG02976.hp2 HG03486.hp2 HG03710.hp1 NA18906.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0009 others(3): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0002c0004 a0004c0008	a0001c0002t0001 a0001c0002t0022 a0001c0003t0024 others(7): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0024 a0001c0009t0012 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0004t0003 a0002c0004t0018 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0022g0034 others(8): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0022g0034 a0001c0003t0024g0003 a0001c0009t0012g0006 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0021 a0002c0004t0003g0009 a0002c0004t0018g0010 a0004c0008t0016g0028	11	40	0.2750	-92	c.107 others(113): Show c.107-102979_107-102888delTGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCCCCCTCCTCGTCCTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1398479	AGAGTCGT others(85): Show AGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	-92	c.107 others(113): Show c.107-102857_107-102766delCACCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGCGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1398702	GTCCTCCT others(85): Show GTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	33	0.0303	-92	c.107 others(113): Show c.107-102584_107-102493delTGCCACCTCCTCATCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results