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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ZNF605_chr12_132913306_132961306	132949685	TGAGGGGA others(48): Show TGAGGGGAGACAGGTCCCAGTGTCAACAGGGACAGTTAACAGCCACAGTC TCTCTG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0011 a0001c0006t0027g0011	1	126	0.0079	-55	c.-28 others(74): Show c.-285-1470_-285-1416delCAGAGAGACTGTGGCTGTTAACTGTC CCTGTTGACACTGGGACCTGTCTCCCCTC		ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4						chr12	TogoVar
ZNF717_chr3_75730868_75790549	75768768	GCTGAGTG others(48): Show GCTGAGTGTGTGGGGGGACAGATGACAGGCCACCACAACCTCATTAAGTT CTGTCA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18971.hp1 NA19003.hp2 others(3): Show NA18968.hp1 NA18971.hp1 NA19003.hp2 NA19064.hp2 NA19068.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0201 a0001c0001t0001g0213 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0277	6	360	0.0167	-55	c.57+ others(72): Show c.57+14483_57+14537delTGACAGAACTTAATGAGGTTGTGGTGGC CTGTCATCTGTCCCCCCACACACTCAG		ZNF717	ENSG00000227124.11	transcript	ENST00000652011.2	protein_coding	2/4						chr3	TogoVar
ZNF862_chr7_149833375_149872479	149863282	GCAGTGCT others(48): Show GCAGTGCTCTCTCTCCTCGCGTCTCTAGCTGGCCTCCTTCCGGCTGTTGC TGCTCC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02630.hp2 others(9): Show HG02109.hp1 HG02109.hp2 HG02630.hp2 HG02723.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG06807.hp1 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0012 a0005c0011 a0006c0014 a0001c0012 a0005c0011 a0006c0014	a0001c0012t0016 a0005c0011t0018 a0005c0011t0022 others(1): Show a0001c0012t0016 a0005c0011t0018 a0005c0011t0022 a0006c0014t0013	a0001c0012t0016g0056 a0001c0012t0016g0259 a0001c0012t0016g0286 others(8): Show a0001c0012t0016g0056 a0001c0012t0016g0259 a0001c0012t0016g0286 a0005c0011t0018g0046 a0005c0011t0018g0260 a0005c0011t0022g0267 a0005c0011t0022g0268 a0006c0014t0013g0055 a0006c0014t0013g0266 a0006c0014t0013g0276 a0006c0014t0013g0290	12	412	0.0291	-55	c.333 others(72): Show c.3335-767_3335-713delGCTCTCTCTCCTCGCGTCTCTAGCTGGC CTCCTTCCGGCTGTTGCTGCTCCCAGT		ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
ZYG11B_chr1_52721453_52832336	52797063	TTTATATA others(48): Show TTTATATATTATATATTGTATATATTTATATATTACATATTGTATATATT TATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(84): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01071.hp1 HG01109.hp1 HG01255.hp1 HG01358.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp2 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19058.hp1 NA19065.hp1 NA19070.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0007 a0001c0001 a0003c0006 a0004c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(15): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0001t0039 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0071 a0003c0006t0002 a0004c0007t0042	a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 others(84): Show a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0005g0047 a0001c0001t0005g0190 a0001c0001t0005g0199 a0001c0001t0005g0212 a0001c0001t0005g0214 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0346 a0001c0001t0005g0347 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0010g0198 a0001c0001t0010g0264 a0001c0001t0010g0265 a0001c0001t0010g0266 a0001c0001t0010g0267 a0001c0001t0017g0292 a0001c0001t0017g0303 a0001c0001t0017g0321 a0001c0001t0039g0333 a0001c0001t0043g0309 a0001c0001t0045g0291 a0001c0001t0046g0285 a0001c0001t0047g0271 a0001c0001t0048g0272 a0001c0001t0049g0305 a0001c0001t0050g0313 a0001c0001t0051g0284 a0001c0001t0052g0318 a0001c0001t0054g0192 a0001c0001t0071g0219 a0003c0006t0002g0298 a0004c0007t0042g0306	87	352	0.2472	-55	c.148 others(72): Show c.1485+296_1485+350delGTATATATTTATATATTACATATTGTAT ATATTTATATATTATATATTATATATT		ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL2_chr3_151728927_151766339	151765580	AATACAAT others(47): Show AATACAATTTGAGCAGGCAGGCATGCCATAGTGACTCAGTACCAGAATAT ATATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0011 a0001c0001t0016g0011	1	428	0.0023	-54	c.79 others(65): Show c.7987_*8040delATACAATTTGAGCAGGCAGGCATGCCATAGTGAC TCAGTACCAGAATATATATC		AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding					4242		chr3	TogoVar
AATK_chr17_81112295_81171221	81140802	CGTGGGGC others(47): Show CGTGGGGCTGTGAGCCGTGGGGCCGGGAGACCGTGGGGCCGTGAGCCGTG GGGCT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	368	0.0027	-54	c.56- others(69): Show c.56-6355_56-6302delAGCCCCACGGCTCACGGCCCCACGGTCTCC CGGCCCCACGGCTCACAGCCCCAC		AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13						chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862643	CCGGGCCG others(47): Show CCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGG CCGGG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA20300.hp1 HG02735.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0001c0001 a0005c0016	a0001c0001t0001 a0005c0016t0011 a0001c0001t0001 a0005c0016t0011	a0001c0001t0001g0016 a0005c0016t0011g0075 a0001c0001t0001g0016 a0005c0016t0011g0075	2	318	0.0063	-54	c.422 others(69): Show c.422-897_422-844delCCCGGCCCGGCCCGGCCCGGCCCGGCCCGG CCCGGCCCGGCCCGGCCCGGCCCG		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862645	GGGCCGGG others(47): Show GGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCC GGGCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02647.hp2 others(2): Show HG01891.hp2 HG02257.hp1 HG02647.hp2 NA19043.hp2 NA19084.hp2	a0004 a0006 a0029 a0004 a0006 a0029	a0004c0042 a0004c0044 a0006c0005 others(1): Show a0004c0042 a0004c0044 a0006c0005 a0029c0074	a0004c0042t0008 a0004c0044t0013 a0006c0005t0045 others(1): Show a0004c0042t0008 a0004c0044t0013 a0006c0005t0045 a0029c0074t0019	a0004c0042t0008g0083 a0004c0042t0008g0158 a0004c0044t0013g0280 others(2): Show a0004c0042t0008g0083 a0004c0042t0008g0158 a0004c0044t0013g0280 a0006c0005t0045g0155 a0029c0074t0019g0231	5	318	0.0157	-54	c.422 others(69): Show c.422-899_422-846delGGCCCGGCCCGGCCCGGCCCGGCCCGGCCC GGCCCGGCCCGGCCCGGCCCGGCC		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA8_chr17_68862289_68960392	68958897	TATTATTA others(47): Show TATTATTATTATATAATAATAATATAATATAATATAATATAATAATAATA ATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02615.hp1 others(4): Show HG02109.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp2 HG04204.hp2 HG06807.hp1 NA19010.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006 a0018c0058	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0006t0001 a0018c0058t0004	a0001c0001t0001g0164 a0001c0001t0001g0230 a0001c0002t0001g0220 others(4): Show a0001c0001t0001g0164 a0001c0001t0001g0230 a0001c0002t0001g0220 a0001c0004t0001g0190 a0002c0006t0001g0165 a0002c0006t0001g0202 a0018c0058t0004g0133	7	274	0.0256	-54	c.-38 others(65): Show c.-3899_-3846delTATATTATTATTATTATATTATATTATATTATAT TATTATTATATAATAATAAT		ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding					3506		chr17	TogoVar
ABCG1_chr21_42214140_42302244	42284739	AATGACAC others(47): Show AATGACACCAAACCCTGGGTACCCACTGCCTTCTGTTAGCTCGTGGGGCG TCTTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02280.hp2 others(13): Show HG01884.hp2 HG02280.hp1 HG02280.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0006t0004 a0001c0007t0016 a0001c0012t0004	a0001c0001t0001g0076 a0001c0001t0001g0316 a0001c0001t0002g0095 others(13): Show a0001c0001t0001g0076 a0001c0001t0001g0316 a0001c0001t0002g0095 a0001c0001t0004g0098 a0001c0001t0004g0158 a0001c0001t0004g0265 a0001c0001t0004g0272 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0311 a0001c0001t0004g0319 a0001c0001t0007g0058 a0001c0001t0014g0061 a0001c0006t0004g0321 a0001c0007t0016g0347 a0001c0012t0004g0276	16	354	0.0452	-54	c.858 others(68): Show c.858+82_858+135delTGCCTTCTGTTAGCTCGTGGGGCGTCTTCAT GACACCAAACCCTGGGTACCCAC		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42284788	GTCTTCAT others(47): Show GTCTTCATGACACCAAACCCTGGGTACCCACAGCCTTCTGTTAGCTCATG GGGCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03471.hp2 HG02258.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0029 a0001c0001t0004 a0001c0001t0029	a0001c0001t0004g0093 a0001c0001t0029g0262 a0001c0001t0004g0093 a0001c0001t0029g0262	2	354	0.0057	-54	c.858 others(69): Show c.858+148_858+201delGCTCATGGGGCATCTTCATGACACCAAACC CTGGGTACCCACAGCCTTCTGTTA		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ABI1_chr10_26741596_26865958	26811736	AATTTGTA others(47): Show AATTTGTATAAATTTATGCAAAGATTTGTATAAATTTGTATAAATTTATG CAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00673.hp2 others(34): Show HG00558.hp1 HG00639.hp1 HG00673.hp2 HG01109.hp2 HG02040.hp1 HG02132.hp1 HG02135.hp2 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp2 NA18942.hp2 NA18946.hp2 NA18960.hp1 NA18964.hp1 NA18977.hp1 NA18978.hp2 NA18985.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp1 NA19086.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 others(34): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0239 a0001c0001t0001g0312 a0001c0001t0001g0318	37	358	0.1034	-54	c.285 others(73): Show c.285+11348_285+11401delCTTTGCATAAATTTATACAAATTTAT ACAAATCTTTGCATAAATTTATACAAAT		ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10						chr10	TogoVar
ABR_chr17_998519_1184981	1027014	TCACACCT others(47): Show TCACACCTGCAGGCTTGGGGGCTCCTTCCAAAATGCCTGGGGCAGCTCCC CCAGC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0052 a0001c0005t0024 a0001c0003t0052 a0001c0005t0024	a0001c0003t0052g0220 a0001c0005t0024g0041 a0001c0003t0052g0220 a0001c0005t0024g0041	2	337	0.0059	-54	c.179 others(75): Show c.1792-13904_1792-13851delGCTGGGGGAGCTGCCCCAGGCATT TTGGAAGGAGCCCCCAAGCCTGCAGGTGTG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22						chr17	TogoVar
ABR_chr17_998519_1184981	1143048	GCAGCTCG others(47): Show GCAGCTCGCTCCTGGGGGGCAGCTCGCTCCTGGGGGACAGCTCATTCCTG GGGGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	337	0.0030	-54	c.62- others(71): Show c.62-17735_62-17682delTCCCCCAGGAATGAGCTGTCCCCCAGGA GCGAGCTGCCCCCCAGGAGCGAGCTG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ABR_chr17_998519_1184981	1143228	GCAGCTCG others(47): Show GCAGCTCGCTCCTGGGGGACAGCTCATTCCTGGGGGACAGCTCGCTCCTG GGGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0018 a0001c0017t0018	a0001c0017t0018g0108 a0001c0017t0018g0108	1	337	0.0030	-54	c.62- others(71): Show c.62-17915_62-17862delTCCCCCAGGAGCGAGCTGTCCCCCAGGA ATGAGCTGTCCCCCAGGAGCGAGCTG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ABR_chr17_998519_1184981	1143289	GCTCCTGG others(47): Show GCTCCTGGGGGGCAGCTCGCTCCTGGGGGACAGCTCATTCCTGGGGGACA GCTCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp2 HG02055.hp2 others(12): Show HG00621.hp2 HG01109.hp2 HG02055.hp2 HG02145.hp1 HG02486.hp2 HG03225.hp1 HG03471.hp1 NA18970.hp2 NA19000.hp2 NA19043.hp1 NA19070.hp2 NA19081.hp1 NA19091.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0031 a0001c0001t0035 a0001c0002t0008 a0001c0002t0011 a0001c0003t0083	a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 others(12): Show a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0004g0250 a0001c0001t0008g0019 a0001c0001t0008g0033 a0001c0001t0009g0022 a0001c0001t0011g0125 a0001c0001t0014g0243 a0001c0001t0017g0113 a0001c0001t0031g0240 a0001c0001t0035g0014 a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0003t0083g0285	15	337	0.0445	-54	c.62- others(71): Show c.62-17976_62-17923delTGAGCTGTCCCCCAGGAATGAGCTGTCC CCCAGGAGCGAGCTGCCCCCCAGGAG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ABTB3_chr12_107313434_107664642	107469888	TTCTTTCT others(47): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTTT CTTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18946.hp1 HG02109.hp1 NA18946.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0007 a0004c0005t0032 a0002c0002t0007 a0004c0005t0032	a0002c0002t0007g0174 a0004c0005t0032g0091 a0002c0002t0007g0174 a0004c0005t0032g0091	2	186	0.0108	-54	c.113 others(75): Show c.1136-50563_1136-50510delCTCTCTCTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469944	CTTTCTTT others(47): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0029 a0002c0009t0029	a0002c0009t0029g0069 a0002c0009t0029g0069	1	186	0.0054	-54	c.113 others(75): Show c.1136-50541_1136-50488delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288264	TCTGCTCC others(47): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 NA19087.hp1 HG03195.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0018 a0001c0001t0014g0221 a0001c0001t0001g0018 a0001c0001t0014g0221	2	295	0.0068	-54	c.52 others(65): Show c.5246_*5299delGGACACGGGACGGAGCAGACACGGGACGGAGCAG AGACTCGGGGGACGGAGCAG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4126		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288356	TCTGCTCC others(47): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	295	0.0034	-54	c.51 others(65): Show c.5154_*5207delGGACACGGGACGGAGCAGGGACACGGGACGGAGC AGGGACACGGGACGGAGCAG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4034		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288665	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	295	0.0034	-54	c.48 others(65): Show c.4845_*4898delACGGAGCAGAGACTCGGGGGACGGAGCAGGGACA CGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3725		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288683	CCGTGTCC others(47): Show CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	295	0.0034	-54	c.48 others(65): Show c.4827_*4880delACGGAGCAGAGACACGGGACGGAGCAGAGACTCG GGGGACGGAGCAGGGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3707		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288701	CCCCGAGT others(47): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	295	0.0034	-54	c.48 others(65): Show c.4809_*4862delACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACTCGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3689		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288999	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 NA18947.hp2 HG03490.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0138 a0001c0001t0002g0004 a0001c0001t0002g0138	2	295	0.0068	-54	c.45 others(65): Show c.4511_*4564delACGGAGCAGAGACTCGGGGGACGGAGCAGGGACA CGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3391		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289093	CCCCGTGT others(47): Show CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	295	0.0034	-54	c.44 others(65): Show c.4417_*4470delACGGGGCAGAGACACGGGACGGAGCAGGGACACG GGACGGAGCAGGGACACGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3297		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289245	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC CCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	295	0.0034	-54	c.42 others(65): Show c.4265_*4318delACGGGGCAGGGACACGGGACGGAGCAGGGACACG GGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3145		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289498	TCTGCTCC others(47): Show TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	295	0.0034	-54	c.40 others(65): Show c.4012_*4065delGGACACGGGACGGAGCAGGGACACGGGACGGAGC AGACACGGGGGACGGAGCAG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2892		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289955	TCTGCTCC others(47): Show TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02155.hp2 HG03139.hp2 others(2): Show HG00544.hp1 HG02155.hp2 HG03139.hp2 NA18999.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0007 a0001c0001t0002g0025 a0001c0001t0003g0002 others(2): Show a0001c0001t0001g0007 a0001c0001t0002g0025 a0001c0001t0003g0002 a0001c0002t0002g0095 a0001c0003t0002g0010	5	295	0.0170	-54	c.35 others(65): Show c.3555_*3608delGGACACGGGACGGAGCAGGGACACGGGACGGAGC AGACACGGGGGACGGAGCAG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2435		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290092	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	295	0.0034	-54	c.34 others(65): Show c.3418_*3471delACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2298		chr1	TogoVar
ACER2_chr9_19404009_19457505	19427984	TTTTCCTT others(47): Show TTTTCCTTTCCTTTCCTTTTTCCTTTTTCCTTTCCTTTCCTTTCCTTTCC TTTCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02486.hp1 HG03130.hp2 others(2): Show HG00323.hp2 HG02486.hp1 HG03130.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0002 a0001c0001t0023 a0001c0006t0001 others(1): Show a0001c0001t0002 a0001c0001t0023 a0001c0006t0001 a0004c0005t0002	a0001c0001t0002g0016 a0001c0001t0002g0057 a0001c0001t0023g0022 others(2): Show a0001c0001t0002g0016 a0001c0001t0002g0057 a0001c0001t0023g0022 a0001c0006t0001g0120 a0004c0005t0002g0104	5	358	0.0140	-54	c.365 others(71): Show c.365+3162_365+3215delTTCCTTTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTT		ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
ACOX1_chr17_75936507_75984166	75967684	ATATATAT others(47): Show ATATATATACATACATATATATACATATATATATACACATATATATATAT ACACG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02132.hp2 HG02965.hp1 others(16): Show HG00423.hp2 HG02132.hp2 HG02965.hp1 HG03139.hp1 HG03516.hp2 NA18944.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18972.hp1 NA18980.hp2 NA18992.hp1 NA19010.hp1 NA19065.hp2 NA19067.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0004 a0001c0001t0015 a0001c0001t0035 others(3): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0003c0006t0016	a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 others(16): Show a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0336 a0001c0001t0015g0331 a0001c0001t0015g0337 a0001c0001t0015g0338 a0001c0001t0035g0325 a0001c0001t0038g0339 a0001c0001t0041g0330 a0003c0006t0016g0316 a0003c0006t0016g0317 a0003c0006t0016g0318	19	344	0.0552	-54	c.270 others(71): Show c.270-7363_270-7310delCGTGTATATATATATATGTGTATATATA TATGTATATATATGTATGTATATATA		ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13						chr17	TogoVar
ACOXL_chr2_110727573_111123548	110995965	GGTTCTTC others(47): Show GGTTCTTCAGCGGGGTTTGGTGGCCAGAATTTATTATAAGGTAAAGATAC ACTGT	G G	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01243.hp2 HG01891.hp1 HG02109.hp1 others(8): Show HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02886.hp1 HG02897.hp1 HG03225.hp2 HG06807.hp1 NA19043.hp1 NA21309.hp2	a0004 a0008 a0004 a0008	a0004c0005 a0008c0008 a0004c0005 a0008c0008	a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 others(2): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 a0004c0005t0008 a0008c0008t0001	a0004c0005t0001g0070 a0004c0005t0001g0134 a0004c0005t0002g0004 others(8): Show a0004c0005t0001g0070 a0004c0005t0001g0134 a0004c0005t0002g0004 a0004c0005t0002g0020 a0004c0005t0002g0022 a0004c0005t0002g0124 a0004c0005t0002g0127 a0004c0005t0005g0046 a0004c0005t0008g0133 a0008c0008t0001g0015 a0008c0008t0001g0016	11	150	0.0733	-54	c.124 others(66): Show c.1246_1281+18delCTTCAGCGGGGTTTGGTGGCCAGAATTTATTAT AAGGTAAAGATACACTGTGTT	p.Leu others(13): Show p.Leu416_Lys427del	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	14/18	1470/2699	1246/1743	416/580		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACSF3_chr16_89088852_89161233	89118063	GTTCCCTC others(47): Show GTTCCCTCGGGCGCCGGGGACGCTCTCTCTTCTCTAAGGCAGAGCCCACG GCAGA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0028 a0002c0003t0005g0028	1	368	0.0027	-54	c.112 others(73): Show c.1127-2692_1127-2639delCACGGCAGATTCCCTCGGGCGCCGGG GACGCTCTCTCTTCTCTAAGGCAGAGCC		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89136813	GCAAAGGT others(47): Show GCAAAGGTCTGTTTCAGGTAACTCCTCTGACGGCCACAACGATGTCTTCA GACGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	368	0.0027	-54	c.136 others(73): Show c.1366+3563_1366+3616delTTCAGGTAACTCCTCTGACGGCCACA ACGATGTCTTCAGACGTCAAAGGTCTGT		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89136825	TTCAGGTA others(47): Show TTCAGGTAACTCCTCTGACGGCCACAACGATGTCTTCAGACGTCAAAGGT CTGTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02451.hp2 others(5): Show HG01891.hp2 HG02055.hp2 HG02451.hp2 HG02896.hp2 HG02976.hp2 HG03098.hp1 HG03471.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0012 a0002c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0004 a0002c0003t0052 a0003c0006t0059	a0001c0001t0001g0011 a0001c0001t0001g0325 a0001c0001t0012g0007 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0325 a0001c0001t0012g0007 a0001c0001t0012g0034 a0002c0002t0004g0351 a0002c0002t0004g0361 a0002c0003t0052g0240 a0003c0006t0059g0350	8	368	0.0217	-54	c.136 others(73): Show c.1366+3644_1366+3697delCGATGTCTTCAGACGTCAAAGGTCTG TCTCAGGTAACTCCTCTGACGGCCACAA		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137422	GGGGAAGG others(47): Show GGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAG CTCAC	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	368	0.0027	-54	c.136 others(73): Show c.1366+4164_1366+4217delAAGGATTGAGGGGAAGAGCCCCAGGT CTCGGGAGGACCACCAGGAGCTCACGGG		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTR3C_chr7_150242212_150328545	150244067	GTATAGTC others(47): Show GTATAGTCTTAGAATATTGAATATTCAATATAGTCTTAGAATATTGAATA TTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02257.hp1 HG02293.hp2 others(8): Show HG01261.hp2 HG02257.hp1 HG02293.hp2 HG02723.hp2 NA18947.hp2 NA18956.hp2 NA18970.hp2 NA18999.hp2 NA19007.hp2 NA19056.hp2 NA19085.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0009 a0001c0001 a0002c0002 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0010c0009t0002	a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0129 others(8): Show a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0129 a0001c0001t0002g0052 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0098 a0001c0001t0002g0107 a0002c0002t0001g0149 a0002c0002t0001g0268 a0010c0009t0002g0076	11	294	0.0374	-54	c.34 others(65): Show c.3487_*3540delTTGAATATTCAATATTCTAAGACTATATTGAATA TTCAATATTCTAAGACTATA		ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding					3144		chr7	TogoVar
ACYP2_chr2_53966113_54310300	54100146	AAAAAATA others(47): Show AAAAAATAATAAATGAACATTTACATGTTTTGACTTTCCAGATTTAGTTC ACTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20129.hp1 HG01884.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0261 a0001c0001t0001g0165 a0001c0001t0001g0261	2	272	0.0074	-54	c.278 others(73): Show c.278-35305_278-35252delAAAATAATAAATGAACATTTACATGT TTTGACTTTCCAGATTTAGTTCACTGTA		ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAM30_chr1_119888533_119901515	119899948	AAGTGAGA others(47): Show AAGTGAGACGGTGTATCACTTGAGCTCAGATGATCAAGACAAGCCTGGGT AACAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	-54	c.-36 others(65): Show c.-3666_-3613delATGTTACCCAGGCTTGTCTTGATCATCTGAGCTC AAGTGATACACCGTCTCACT		ADAM30	ENSG00000134249.7	transcript	ENST00000369400.2	protein_coding					3434		chr1	TogoVar
ADAMTS15_chr11_130443645_130481645	130470130	ATACATAT others(47): Show ATACATATATATATATATATATGTGTATATATATATATATATATATATAT ATGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02258.hp2 HG02572.hp1	a0011 a0012 a0011 a0012	a0011c0028 a0012c0039 a0011c0028 a0012c0039	a0011c0028t0003 a0012c0039t0005 a0011c0028t0003 a0012c0039t0005	a0011c0028t0003g0338 a0012c0039t0005g0310 a0011c0028t0003g0338 a0012c0039t0005g0310	2	398	0.0050	-54	c.172 others(71): Show c.1720+693_1721-735delACATATATATATATATATATGTGTATAT ATATATATATATATATATATATGTGT		ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130470132	ACATATAT others(47): Show ACATATATATATATATATATGTGTATATATATATATATATATATATATAT GTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(86): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18951.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19067.hp1 NA19084.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0007 others(7): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0030 a0001c0031 a0002c0004 a0005c0010 a0005c0021 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0039 a0001c0002t0001 a0001c0007t0038 a0001c0014t0003 a0001c0030t0014 a0001c0031t0013 a0002c0004t0001 a0002c0004t0002 a0005c0010t0005 a0005c0010t0013 a0005c0021t0018 a0007c0012t0005	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0022 others(81): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0176 a0001c0001t0001g0224 a0001c0001t0001g0281 a0001c0001t0002g0021 a0001c0001t0002g0058 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0145 a0001c0001t0002g0180 a0001c0001t0002g0186 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0038 a0001c0001t0003g0071 a0001c0001t0003g0086 a0001c0001t0003g0101 a0001c0001t0003g0123 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0003g0328 a0001c0001t0003g0357 a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0032 a0001c0001t0004g0048 a0001c0001t0004g0056 a0001c0001t0004g0063 a0001c0001t0004g0074 a0001c0001t0004g0133 a0001c0001t0004g0228 a0001c0001t0004g0282 a0001c0001t0004g0344 a0001c0001t0005g0036 a0001c0001t0005g0178 a0001c0001t0005g0358 a0001c0001t0006g0031 a0001c0001t0008g0035 a0001c0001t0008g0039 a0001c0001t0011g0034 a0001c0001t0011g0060 a0001c0001t0011g0062 a0001c0001t0014g0103 a0001c0001t0025g0350 a0001c0001t0026g0126 a0001c0001t0039g0182 a0001c0002t0001g0332 a0001c0007t0038g0181 a0001c0014t0003g0037 a0001c0014t0003g0040 a0001c0030t0014g0042 a0001c0031t0013g0069 a0002c0004t0001g0057 a0002c0004t0001g0208 a0002c0004t0002g0009 a0002c0004t0002g0011 a0002c0004t0002g0124 a0002c0004t0002g0135 a0002c0004t0002g0187 a0002c0004t0002g0195 a0002c0004t0002g0284 a0005c0010t0005g0092 a0005c0010t0013g0090 a0005c0021t0018g0091 a0007c0012t0005g0341	89	398	0.2236	-54	c.172 others(71): Show c.1720+694_1721-734delCATATATATATATATATATGTGTATATA TATATATATATATATATATATGTGTG		ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7						chr11	TogoVar
ADAMTS3_chr4_72275969_72574221	72550027	AGAAGAAG others(47): Show AGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG AAGAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0081 a0001c0011t0001g0081	1	182	0.0055	-54	c.98- others(69): Show c.98-1197_98-1144delCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTTCCTCTTCTTCTTCTTCTTC		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21						chr4	TogoVar
ADAP1_chr7_892900_959680	937230	CGGCCTCT others(47): Show CGGCCTCTGGGATTTGGGGGTCACGCCCGACCTCTGGGATTTGGGGGTCA TGCCT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	14	0.0714	-54	c.83- others(69): Show c.83-1779_83-1726delAGGCATGACCCCCAAATCCCAGAGGTCGGG CGTGACCCCCAAATCCCAGAGGCC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10						chr7	TogoVar
ADAP1_chr7_892900_959680	937442	CGCCCGAC others(47): Show CGCCCGACCTTTGGGATTTGGGGGTCATGCCCGGCCTCTGGGATTTGGAG GTCAT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp2 homoSapiens_chm13v2.hp1 HG01346.hp1 HG01346.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0003g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0003g0003	3	14	0.2143	-54	c.83- others(69): Show c.83-1991_83-1938delATGACCTCCAAATCCCAGAGGCCGGGCATG ACCCCCAAATCCCAAAGGTCGGGC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10						chr7	TogoVar
ADARB1_chr21_45069580_45231560	45152267	GTCTGCTG others(47): Show GTCTGCTGTGGGAGATTTGTTTCCCTAGAAGATTCACGGCTGTCGTTCTC TCCCC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG01167.hp2 others(39): Show HG00408.hp2 HG00673.hp1 HG01167.hp2 HG01192.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02922.hp1 HG03654.hp1 HG04204.hp1 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18951.hp1 NA18953.hp1 NA18957.hp1 NA18970.hp2 NA18973.hp2 NA18980.hp2 NA18983.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp2 NA19063.hp1 NA19074.hp2 NA19084.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0006 a0001c0001t0009 a0001c0001t0019 others(17): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0019 a0001c0001t0104 a0001c0001t0106 a0001c0001t0119 a0001c0002t0004 a0001c0002t0020 a0001c0002t0021 a0001c0002t0025 a0001c0002t0037 a0001c0002t0039 a0001c0002t0102 a0001c0002t0107 a0001c0002t0108 a0001c0002t0109 a0001c0002t0118 a0001c0002t0120 a0001c0002t0126 a0004c0011t0037	a0001c0001t0006g0282 a0001c0001t0009g0001 a0001c0001t0009g0141 others(37): Show a0001c0001t0006g0282 a0001c0001t0009g0001 a0001c0001t0009g0141 a0001c0001t0009g0143 a0001c0001t0019g0146 a0001c0001t0019g0151 a0001c0001t0019g0171 a0001c0001t0104g0144 a0001c0001t0106g0166 a0001c0001t0119g0147 a0001c0002t0004g0137 a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0004g0142 a0001c0002t0004g0145 a0001c0002t0004g0148 a0001c0002t0004g0153 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0160 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0174 a0001c0002t0020g0161 a0001c0002t0021g0154 a0001c0002t0021g0155 a0001c0002t0021g0156 a0001c0002t0025g0169 a0001c0002t0025g0170 a0001c0002t0037g0150 a0001c0002t0039g0172 a0001c0002t0039g0173 a0001c0002t0102g0168 a0001c0002t0107g0152 a0001c0002t0108g0138 a0001c0002t0109g0159 a0001c0002t0118g0149 a0001c0002t0120g0164 a0001c0002t0126g0191 a0004c0011t0037g0165	42	350	0.1200	-54	c.-47 others(73): Show c.-47-19336_-47-19283delGTGGGAGATTTGTTTCCCTAGAAGAT TCACGGCTGTCGTTCTCTCCCCTCTGCT		ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1189729	CCTACCTC others(47): Show CCTACCTCCTTCCCCAGAACACGTGGCGCTACCTCCTTCCCCAGAACACG TGGCG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG01081.hp2 others(13): Show HG00438.hp1 HG00639.hp1 HG01081.hp2 HG01884.hp1 HG02083.hp1 HG02145.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 NA18967.hp1 NA18983.hp2 NA18988.hp1 NA18998.hp1 NA19070.hp2 NA20129.hp2	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0002 a0002c0004 a0002c0015 others(3): Show a0002c0002 a0002c0004 a0002c0015 a0002c0017 a0005c0011 a0008c0008	a0002c0002t0006 a0002c0002t0008 a0002c0002t0026 others(10): Show a0002c0002t0006 a0002c0002t0008 a0002c0002t0026 a0002c0002t0038 a0002c0002t0046 a0002c0002t0048 a0002c0002t0065 a0002c0004t0028 a0002c0004t0047 a0002c0015t0008 a0002c0017t0006 a0005c0011t0006 a0008c0008t0016	a0002c0002t0006g0011 a0002c0002t0006g0019 a0002c0002t0008g0042 others(13): Show a0002c0002t0006g0011 a0002c0002t0006g0019 a0002c0002t0008g0042 a0002c0002t0008g0047 a0002c0002t0008g0058 a0002c0002t0026g0032 a0002c0002t0038g0048 a0002c0002t0046g0056 a0002c0002t0048g0068 a0002c0002t0065g0086 a0002c0004t0028g0020 a0002c0004t0047g0063 a0002c0015t0008g0060 a0002c0017t0006g0010 a0005c0011t0006g0014 a0008c0008t0016g0003	16	106	0.1509	-54	c.186 others(73): Show c.1865-4744_1865-4691delCGCCACGTGTTCTGGGGAAGGAGGTA GCGCCACGTGTTCTGGGGAAGGAGGTAG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	8/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239158	CCCCTCTC others(47): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCC CCTCT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18995.hp2 HG02897.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0004 a0001c0001t0012 a0002c0002t0004	a0001c0001t0012g0024 a0002c0002t0004g0084 a0001c0001t0012g0024 a0002c0002t0004g0084	2	106	0.0189	-54	c.136 others(73): Show c.1361+2919_1361+2972delAGAGGGGAGTAAACTCCGGGAGGCAG GGGGGAGTAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1326825	CCAGCGCC others(47): Show CCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCA CGGCA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0104 a0001c0003t0060g0104	1	106	0.0094	-54	c.107 others(75): Show c.1077+36149_1077+36202delTGCCGTGGGGAGGCGCTGGGCAGT GGGGAGGCGCTGGGCCGTGGGGAGGCGCTG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1326840	GGCCCAGC others(47): Show GGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCC CCACT	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	106	0.0094	-54	c.107 others(75): Show c.1077+36134_1077+36187delAGTGGGGAGGCGCTGTGCCGTGGG GAGGCGCTGGGCAGTGGGGAGGCGCTGGGC		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1326876	GGCACAGC others(47): Show GGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCC CCACT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0056 a0002c0002t0046g0056	1	106	0.0094	-54	c.107 others(75): Show c.1077+36098_1077+36151delAGTGGGGAGGCGCTGGGCAGTGGG GAGGCGCTGGGCAGTGGGGAGGCGCTGTGC		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar

Search by Variant

Search

Search Results