Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AATK_chr17_81112295_81171221	81119129	CCAGGTGA others(26): Show CCAGGTGAGGGCCAGGTGAGGGTCAGGTGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG02451.hp2 others(3): Show HG00280.hp1 HG01496.hp2 HG02451.hp2 HG03688.hp2 HG03710.hp2 NA19011.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0012 a0006c0017 a0003c0003 a0006c0012 a0006c0017	a0003c0003t0002 a0006c0012t0008 a0006c0017t0002 a0003c0003t0002 a0006c0012t0008 a0006c0017t0002	a0003c0003t0002g0089 a0003c0003t0002g0216 a0006c0012t0008g0103 others(3): Show a0003c0003t0002g0089 a0003c0003t0002g0216 a0006c0012t0008g0103 a0006c0012t0008g0246 a0006c0017t0002g0120 a0006c0017t0002g0122	6	294	0.0204	-33	c.408 others(50): Show c.4084+218_4084+250delACCCTCACCTGACCCTCACCTGGCCCTC ACCTG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81119140	CCAGGTGA others(26): Show CCAGGTGAGGGTCAGGTGAGGGTCAGGTGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0251 a0002c0002t0001g0251	1	169	0.0059	-33	c.408 others(50): Show c.4084+207_4084+239delACCCTCACCTGACCCTCACCTGACCCTC ACCTG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8737936	AAAGGAAA others(26): Show AAAGGAAAGGAAGAAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	360	0.0028	-33	c.70+ others(48): Show c.70+2134_70+2166delAGGAAGAAAGGAAGGAAGGAAGGAAGGAAG GAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA1_chr9_104776006_104933155	104862644	CGGGCCGG others(26): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG01934.hp2 others(1): Show HG00741.hp2 HG01099.hp2 HG01934.hp2 HG03491.hp2	a0005 a0010 a0005 a0010	a0005c0016 a0010c0007 a0005c0016 a0010c0007	a0005c0016t0001 a0010c0007t0002 a0010c0007t0010 a0005c0016t0001 a0010c0007t0002 a0010c0007t0010	a0005c0016t0001g0046 a0010c0007t0002g0014 a0010c0007t0010g0255 others(1): Show a0005c0016t0001g0046 a0010c0007t0002g0014 a0010c0007t0010g0255 a0010c0007t0010g0256	4	285	0.0140	-33	c.422 others(48): Show c.422-877_422-845delCCCGGCCCGGCCCGGCCCGGCCCGGCCCGG CCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862649	CGGGCCGG others(26): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02056.hp1 NA18970.hp2 HG01361.hp2 HG02056.hp1 NA18970.hp2	a0006 a0007 a0006 a0007	a0006c0012 a0007c0003 a0006c0012 a0007c0003	a0006c0012t0001 a0007c0003t0009 a0007c0003t0014 a0006c0012t0001 a0007c0003t0009 a0007c0003t0014	a0006c0012t0001g0091 a0007c0003t0009g0174 a0007c0003t0014g0027 a0006c0012t0001g0091 a0007c0003t0009g0174 a0007c0003t0014g0027	3	243	0.0123	-33	c.422 others(48): Show c.422-882_422-850delCCCGGCCCGGCCCGGCCCGGCCCGGCCCGG CCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862654	CGGGCCGG others(26): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0026 a0026	a0026c0068 a0026c0068	a0026c0068t0044 a0026c0068t0044	a0026c0068t0044g0186 a0026c0068t0044g0186	1	295	0.0034	-33	c.422 others(48): Show c.422-887_422-855delCCCGGCCCGGCCCGGCCCGGCCCGGCCCGG CCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862664	CGGGCCGG others(26): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0238 a0001c0001t0007g0238	1	289	0.0035	-33	c.422 others(48): Show c.422-897_422-865delCCCGGCCCGGCCCGGCCCGGCCCGGCCCGG CCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2341579	GGGTCCGG others(26): Show GGGTCCGGAGAGGGTCGGGGTCACCTGAGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0186 a0012c0015t0001g0186	1	249	0.0040	-33	c.-15 others(44): Show c.-1578_-1546delACCTCCTCAGGTGACCCCGACCCTCTCCGGACC	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		852		chr16	TogoVar
ABCA8_chr17_68862289_68960392	68922194	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	41	0.0244	-33	c.150 others(48): Show c.1501+15_1501+47delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCC6_chr16_16144565_16228494	16202258	ATGTGGAG others(26): Show ATGTGGAGGATCAGTCGGCCCAAACTAGTCCAGG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	356	0.0028	-33	c.999 others(47): Show c.999-113_999-81delCCTGGACTAGTTTGGGCCGACTGATCCTCCA CA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	8/30			chr16	TogoVar
ABR_chr17_998519_1184981	1013349	GCCGCCGT others(26): Show GCCGCCGTGGGGGAGGCAGGGCACACCCTGTTAC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01123.hp2 HG01891.hp1 others(4): Show HG00597.hp2 HG01123.hp2 HG01891.hp1 HG02055.hp2 NA18967.hp2 NA18980.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0003 a0001c0001t0010 a0001c0001t0021 others(4): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0021 a0001c0001t0031 a0001c0001t0049 a0001c0003t0012 a0001c0014t0010	a0001c0001t0003g0059 a0001c0001t0010g0322 a0001c0001t0021g0273 others(4): Show a0001c0001t0003g0059 a0001c0001t0010g0322 a0001c0001t0021g0273 a0001c0001t0031g0241 a0001c0001t0049g0197 a0001c0003t0012g0104 a0001c0014t0010g0308	7	331	0.0211	-33	c.179 others(50): Show c.1792-218_1792-186delGTAACAGGGTGTGCCCTGCCTCCCCCAC GGCGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1013418	GCCGTGGG others(26): Show GCCGTGGGGGAGGCAGGGCACACTCTGTTACCCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp2 NA19240.hp2 HG02145.hp2 HG02886.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0072 a0001c0001t0001 a0001c0001t0008 a0001c0001t0072	a0001c0001t0001g0132 a0001c0001t0008g0006 a0001c0001t0072g0246 a0001c0001t0001g0132 a0001c0001t0008g0006 a0001c0001t0072g0246	3	336	0.0089	-33	c.179 others(50): Show c.1792-287_1792-255delTGGGTAACAGAGTGTGCCCTGCCTCCCC CACGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1061799	AGCCTCCC others(26): Show AGCCTCCCAAAGTACTGGGATTACCGGTGTAAAC	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0088 a0001c0001t0006g0088	1	336	0.0030	-33	c.118 others(52): Show c.1183-2965_1183-2933delGTTTACACCGGTAATCCCAGTACTTT GGGAGGC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1146745	TGCCACCA others(26): Show TGCCACCACTGCCACATGACACCACTGCCACCAG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01952.hp1 HG02109.hp2 others(7): Show HG00741.hp1 HG01952.hp1 HG02109.hp2 HG02280.hp2 HG02735.hp2 HG03098.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 NA19080.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0015 a0001c0001 a0001c0002 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0031 a0001c0001t0057 a0001c0001t0067 a0001c0002t0011 a0005c0015t0061	a0001c0001t0001g0215 a0001c0001t0002g0084 a0001c0001t0005g0316 others(7): Show a0001c0001t0001g0215 a0001c0001t0002g0084 a0001c0001t0005g0316 a0001c0001t0008g0010 a0001c0001t0019g0217 a0001c0001t0031g0242 a0001c0001t0057g0074 a0001c0001t0067g0159 a0001c0002t0011g0108 a0005c0015t0061g0213	10	326	0.0307	-33	c.62- others(50): Show c.62-21411_62-21379delCTGGTGGCAGTGGTGTCATGTGGCAGTG GTGGC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289829	GTCTCTGC others(26): Show GTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	290	0.0034	-33	c.37 others(44): Show c.3702_*3734delGACTCGGGGGACGGACACGGGACGGGGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2561		chr1	TogoVar
ACER1_chr19_6301142_6338612	6311610	GAGAAGGA others(26): Show GAGAAGGAGAAGGAGGAGGAGGAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp2 HG02258.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0003g0185 a0001c0001t0003g0188	2	394	0.0051	-33	c.350 others(48): Show c.350+506_350+538delTCTTCTTCTTCTCCTCCTCCTCCTTCTCCT TCT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	3/5			chr19	TogoVar
ACER3_chr11_76855918_77031797	76950378	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA21309.hp1 HG01358.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0079 a0001c0001t0004 a0001c0001t0079	a0001c0001t0004g0074 a0001c0001t0079g0035 a0001c0001t0004g0074 a0001c0001t0079g0035	2	344	0.0058	-33	c.215 others(50): Show c.215-8598_215-8566delATATATATATATATATATATATATATAT ATAAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACKR2_chr3_42804445_42872286	42872085	GCACTGAT others(26): Show GCACTGATAAGCACGCTGGGAAGGGGGATTGTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	340	0.0029	-33	c.64 others(44): Show c.6429_*6461delCACTGATAAGCACGCTGGGAAGGGGGATTGTCT	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding		4800		chr3	TogoVar
ACMSD_chr2_134833616_134907034	134834849	GAGGGAAG others(26): Show GAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA18939.hp1 NA18943.hp1 others(3): Show HG03453.hp2 NA18939.hp1 NA18943.hp1 NA18959.hp2 NA18961.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0066 a0001c0001t0001g0142 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0066 a0001c0001t0001g0142 a0001c0001t0001g0208 a0001c0001t0001g0286	6	380	0.0158	-33	c.-38 others(44): Show c.-3833_-3801delAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3766		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834865	GAAGGAAG others(26): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	380	0.0026	-33	c.-38 others(44): Show c.-3817_-3785delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3750		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134838446	CCCAAAGC others(26): Show CCCAAAGCTTGATTAACAAATAAAGCTTGGTTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0119 a0001c0001t0001g0131	2	380	0.0053	-33	c.-23 others(42): Show c.-236_-204delCCAAAGCTTGATTAACAAATAAAGCTTGGTTAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		169		chr2	TogoVar
ACOT13_chr6_24662077_24710046	24667027	TGGGTGCG others(26): Show TGGGTGCGAAGCGCGCATGCGCGCTTCGTCACAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01255.hp2 HG02109.hp1 others(5): Show HG00544.hp1 HG01255.hp2 HG02109.hp1 HG02809.hp1 HG02970.hp2 HG03130.hp1 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0041 a0001c0001t0011 a0001c0001t0041	a0001c0001t0011g0039 a0001c0001t0011g0072 a0001c0001t0011g0219 others(4): Show a0001c0001t0011g0039 a0001c0001t0011g0072 a0001c0001t0011g0219 a0001c0001t0011g0220 a0001c0001t0011g0221 a0001c0001t0011g0222 a0001c0001t0041g0019	8	399	0.0201	-33	c.-23 others(42): Show c.-236_-204delGGGTGCGAAGCGCGCATGCGCGCTTCGTCACAA	ACOT13	ENSG00000112304.11	transcript	ENST00000230048.5	protein_coding		49		chr6	TogoVar
ACOT13_chr6_24662077_24710046	24667036	AGCGCGCA others(26): Show AGCGCGCATGCGCGCTTCGTCACAAGGGTGCGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03098.hp1 HG02258.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0038 a0001c0001t0012g0038	2	400	0.0050	-33	c.-22 others(42): Show c.-227_-195delGCGCGCATGCGCGCTTCGTCACAAGGGTGCGAG	ACOT13	ENSG00000112304.11	transcript	ENST00000230048.5	protein_coding		40		chr6	TogoVar
ACP7_chr19_39079368_39116493	39098880	CACCAGTC others(26): Show CACCAGTCGGGGAAGGATGGGGTTGGAGGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00621.hp1 others(50): Show HG00140.hp2 HG00423.hp1 HG00621.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18962.hp1 NA18968.hp2 NA18975.hp2 NA18980.hp2 NA18986.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19064.hp1 NA19065.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0001c0004 a0002c0011 others(1): Show a0001c0003 a0001c0004 a0002c0011 a0006c0015	a0001c0003t0006 a0001c0004t0002 a0001c0004t0004 others(6): Show a0001c0003t0006 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0012 a0001c0004t0017 a0001c0004t0020 a0002c0011t0004 a0006c0015t0004	a0001c0003t0006g0049 a0001c0004t0002g0194 a0001c0004t0004g0008 others(49): Show a0001c0003t0006g0049 a0001c0004t0002g0194 a0001c0004t0004g0008 a0001c0004t0004g0044 a0001c0004t0004g0045 a0001c0004t0004g0046 a0001c0004t0004g0048 a0001c0004t0004g0050 a0001c0004t0004g0051 a0001c0004t0004g0053 a0001c0004t0004g0055 a0001c0004t0004g0056 a0001c0004t0004g0058 a0001c0004t0004g0059 a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0067 a0001c0004t0004g0068 a0001c0004t0004g0071 a0001c0004t0004g0072 a0001c0004t0004g0073 a0001c0004t0004g0074 a0001c0004t0004g0076 a0001c0004t0004g0077 a0001c0004t0004g0078 a0001c0004t0004g0079 a0001c0004t0004g0081 a0001c0004t0004g0082 a0001c0004t0004g0086 a0001c0004t0004g0090 a0001c0004t0004g0092 a0001c0004t0004g0093 a0001c0004t0004g0095 a0001c0004t0004g0096 a0001c0004t0004g0097 a0001c0004t0004g0136 a0001c0004t0004g0147 a0001c0004t0004g0274 a0001c0004t0004g0329 a0001c0004t0005g0161 a0001c0004t0005g0189 a0001c0004t0012g0271 a0001c0004t0017g0146 a0001c0004t0017g0185 a0001c0004t0017g0188 a0001c0004t0020g0268 a0002c0011t0004g0075 a0002c0011t0004g0083 a0002c0011t0004g0084 a0006c0015t0004g0066	53	400	0.1325	-33	c.323 others(46): Show c.323-79_323-47delACCAGTCGGGGAAGGATGGGGTTGGAGGGAGG G	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	3/12			chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6138650	AGAAGGAA others(26): Show AGAAGGAAGAAAGAAAAGGCAGGGACGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(143): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010 a0013 a0014 a0016 a0017	a0001c0001 a0001c0017 a0001c0020 others(14): Show a0001c0001 a0001c0017 a0001c0020 a0001c0024 a0002c0002 a0003c0004 a0003c0011 a0003c0012 a0004c0003 a0004c0019 a0007c0008 a0008c0009 a0010c0010 a0013c0016 a0014c0023 a0016c0018 a0017c0015	a0001c0001t0001 a0001c0001t0003 a0001c0017t0001 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0017t0001 a0001c0020t0001 a0001c0024t0001 a0002c0002t0001 a0003c0004t0002 a0003c0011t0001 a0003c0012t0002 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0008c0009t0002 a0010c0010t0002 a0013c0016t0001 a0014c0023t0001 a0016c0018t0001 a0017c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(143): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0163 a0001c0017t0001g0240 a0001c0020t0001g0051 a0001c0024t0001g0036 a0002c0002t0001g0149 a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0131 a0003c0011t0001g0144 a0003c0011t0001g0160 a0003c0012t0002g0170 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0008c0009t0002g0147 a0008c0009t0002g0164 a0010c0010t0002g0052 a0010c0010t0002g0054 a0013c0016t0001g0014 a0014c0023t0001g0202 a0016c0018t0001g0148 a0017c0015t0001g0258	146	260	0.5615	-33	c.-32 others(50): Show c.-32+2751_-32+2783delAAGAAAAGGCAGGGACGGAGGGAGGAAG GAAGA	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSM5_chr16_20404534_20446336	20409900	AGGTGAGG others(26): Show AGGTGAGGGGCGGGAGAGGTGAGGGGCGGGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	432	0.0023	-33	c.-16 others(48): Show c.-16+237_-16+269delGTGAGGGGCGGGAGAGGTGAGGGGCGGGAG AGG	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAM12_chr10_126007391_126393477	126288694	CAGGGACA others(26): Show CAGGGACAGGACCGTGTGGTGACATAGTGGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG02280.hp2 others(4): Show HG01192.hp1 HG01243.hp1 HG02280.hp2 HG02970.hp2 HG02976.hp2 HG03209.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0002 a0001c0002t0010 a0001c0003t0004 others(3): Show a0001c0002t0002 a0001c0002t0010 a0001c0003t0004 a0001c0004t0014 a0001c0004t0019 a0002c0001t0009	a0001c0002t0002g0203 a0001c0002t0010g0201 a0001c0002t0010g0213 others(4): Show a0001c0002t0002g0203 a0001c0002t0010g0201 a0001c0002t0010g0213 a0001c0003t0004g0124 a0001c0004t0014g0121 a0001c0004t0019g0202 a0002c0001t0009g0024	7	250	0.0280	-33	c.187 others(50): Show c.187-9739_187-9707delAGGGCCACTATGTCACCACACGGTCCTG TCCCT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	2/22			chr10	TogoVar
ADAMTS16_chr5_5135330_5325304	5304378	TTCATGAC others(26): Show TTCATGACCAGCTTTGGACCAAGTGGTTCCAAAA	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0025 a0006c0008t0025	a0006c0008t0025g0034 a0006c0008t0025g0034	1	330	0.0030	-33	c.318 others(50): Show c.3186+613_3186+645delTCATGACCAGCTTTGGACCAAGTGGTTC CAAAA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22			chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	100276059	GGGAGGGA others(26): Show GGGAGGGAGGGAGTGGGTGCCTGGTGGGAGGGTA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18975.hp1 NA18955.hp1 NA18975.hp1	a0001 a0003 a0001 a0003	a0001c0010 a0003c0012 a0001c0010 a0003c0012	a0001c0010t0028 a0003c0012t0003 a0001c0010t0028 a0003c0012t0003	a0001c0010t0028g0037 a0003c0012t0003g0038 a0001c0010t0028g0037 a0003c0012t0003g0038	2	225	0.0089	-33	c.789 others(50): Show c.789+5137_789+5169delTACCCTCCCACCAGGCACCCACTCCCTC CCTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179302941	GACAGGAG others(26): Show GACAGGAGGGCAGAGTGGTGGGCCTGGGTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02486.hp1 HG00323.hp2 HG02486.hp1	a0003 a0005 a0003 a0005	a0003c0002 a0005c0009 a0003c0002 a0005c0009	a0003c0002t0001 a0005c0009t0005 a0003c0002t0001 a0005c0009t0005	a0003c0002t0001g0114 a0005c0009t0005g0024 a0003c0002t0001g0114 a0005c0009t0005g0024	2	272	0.0074	-33	c.535 others(52): Show c.535-29910_535-29878delACCCCACCCAGGCCCACCACTCTGCC CTCCTGT	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179302983	GCAGAGTG others(26): Show GCAGAGTGGTGGGCCTGGGTGGGGTACAGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19007.hp2 HG02886.hp1 NA19007.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0030 a0001c0001 a0003c0030	a0001c0001t0001 a0003c0030t0008 a0001c0001t0001 a0003c0030t0008	a0001c0001t0001g0080 a0003c0030t0008g0121 a0001c0001t0001g0080 a0003c0030t0008g0121	2	273	0.0073	-33	c.535 others(52): Show c.535-29952_535-29920delACCTCCTGTACCCCACCCAGGCCCAC CACTCTG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72400046	CGGTGTGT others(26): Show CGGTGTGTATATACGTGTGTATATATGCACACAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG02559.hp1 others(9): Show HG00639.hp1 HG00741.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG03041.hp1 HG03654.hp1 HG03942.hp1 HG04228.hp2 NA18906.hp1 NA18960.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0129 others(9): Show a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0129 a0001c0001t0002g0152 a0001c0001t0020g0095 a0001c0003t0001g0123 a0001c0003t0002g0106 a0001c0003t0004g0040 a0002c0002t0001g0063 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0002g0081	12	165	0.0727	-33	c.661 others(52): Show c.661+14736_661+14768delATGTGTGCATATATACACACGTATAT ACACACC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550042	AGAGGAAG others(26): Show AGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01175.hp1 others(6): Show HG00140.hp1 HG01106.hp2 HG01175.hp1 HG01496.hp1 HG02004.hp2 HG02257.hp1 HG02602.hp2 HG03927.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0043 a0002c0002t0001g0066 a0002c0002t0001g0068 others(6): Show a0002c0002t0001g0043 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0076 a0002c0002t0001g0084 a0002c0002t0001g0166 a0002c0002t0001g0181 a0002c0002t0002g0171	9	169	0.0533	-33	c.98- others(48): Show c.98-1191_98-1159delCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS6_chr5_65143738_65486920	65319714	GGGAAGGG others(26): Show GGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	174	0.0057	-33	c.122 others(52): Show c.1223+9631_1223+9663delTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTTCC	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	9/24			chr5	TogoVar
ADAMTSL1_chr9_18469153_18915950	18909406	CTGCCTGT others(26): Show CTGCCTGTGCAGCTGCAGCAAAGCCAGTGAGAGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0021 a0003c0011t0021	a0003c0011t0021g0204 a0003c0011t0021g0204	1	216	0.0046	-33	c.86 others(42): Show c.861_*893delCCTGTGCAGCTGCAGCAAAGCCAGTGAGAGGTG	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	29/29	861	INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83823893	CTCTTCTT others(26): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03490.hp2 HG03492.hp1 others(7): Show HG00735.hp2 HG03490.hp2 HG03492.hp1 NA18940.hp2 NA18941.hp1 NA18966.hp1 NA18981.hp2 NA19077.hp2 NA19083.hp2 NA19084.hp1	a0001 a0002 a0023 others(1): Show a0001 a0002 a0023 a0040	a0001c0001 a0002c0008 a0023c0061 others(1): Show a0001c0001 a0002c0008 a0023c0061 a0040c0041	a0001c0001t0001 a0002c0008t0001 a0023c0061t0001 others(1): Show a0001c0001t0001 a0002c0008t0001 a0023c0061t0001 a0040c0041t0001	a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0001g0092 others(7): Show a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0204 a0002c0008t0001g0093 a0023c0061t0001g0118 a0040c0041t0001g0078	10	134	0.0746	-33	c.600 others(50): Show c.600+3895_600+3927delTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCT	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83823942	TCTTCTTC others(26): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03669.hp2 NA18941.hp2 others(1): Show HG01261.hp1 HG03669.hp2 NA18941.hp2 NA20805.hp1	a0002 a0006 a0002 a0006	a0002c0054 a0006c0005 a0002c0054 a0006c0005	a0002c0054t0001 a0006c0005t0002 a0002c0054t0001 a0006c0005t0002	a0002c0054t0001g0023 a0006c0005t0002g0015 a0006c0005t0002g0017 others(1): Show a0002c0054t0001g0023 a0006c0005t0002g0015 a0006c0005t0002g0017 a0006c0005t0002g0018	4	272	0.0147	-33	c.600 others(50): Show c.600+3898_600+3930delTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTCCT	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADARB1_chr21_45069580_45231560	45073979	GGGTGGCT others(26): Show GGGTGGCTCGGCGGGGGCTCGGCGGGGGCTCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01934.hp2 HG01952.hp2 others(5): Show HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0036 a0001c0001t0103 others(1): Show a0001c0001t0009 a0001c0001t0036 a0001c0001t0103 a0001c0002t0020	a0001c0001t0009g0001 a0001c0001t0009g0141 a0001c0001t0009g0143 others(3): Show a0001c0001t0009g0001 a0001c0001t0009g0141 a0001c0001t0009g0143 a0001c0001t0036g0134 a0001c0001t0103g0144 a0001c0002t0020g0135	8	310	0.0258	-33	c.-10 others(44): Show c.-1033_-1001delGGTGGCTCGGCGGGGGCTCGGCGGGGGCTCGGC	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding		600		chr21	TogoVar
ADARB1_chr21_45069580_45231560	45073982	TGGCTCGG others(26): Show TGGCTCGGCGGGGGCTCGGCGGGGGCTCGGCGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(102): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03471.hp1 HG03490.hp2 HG03704.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18991.hp2 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0015 a0004c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(37): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0026 a0001c0001t0035 a0001c0001t0042 a0001c0001t0061 a0001c0001t0063 a0001c0001t0082 a0001c0001t0083 a0001c0001t0104 a0001c0001t0113 a0001c0001t0122 a0001c0001t0124 a0001c0001t0127 a0001c0002t0001 a0001c0002t0017 a0001c0002t0020 a0001c0002t0031 a0001c0002t0068 a0001c0002t0069 a0001c0002t0075 a0001c0002t0078 a0001c0002t0080 a0001c0002t0084 a0001c0002t0089 a0001c0002t0097 a0001c0002t0100 a0001c0002t0123 a0001c0002t0125 a0001c0003t0057 a0001c0003t0058 a0001c0003t0059 a0001c0005t0033 a0001c0006t0003 a0001c0010t0116 a0001c0015t0050 a0004c0011t0045	a0001c0001t0002g0095 a0001c0001t0002g0240 a0001c0001t0002g0245 others(101): Show a0001c0001t0002g0095 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0003g0080 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0238 a0001c0001t0003g0310 a0001c0001t0006g0241 a0001c0001t0006g0244 a0001c0001t0006g0263 a0001c0001t0006g0278 a0001c0001t0006g0282 a0001c0001t0007g0218 a0001c0001t0007g0236 a0001c0001t0010g0285 a0001c0001t0026g0247 a0001c0001t0035g0250 a0001c0001t0035g0252 a0001c0001t0042g0183 a0001c0001t0061g0064 a0001c0001t0063g0220 a0001c0001t0082g0072 a0001c0001t0083g0071 a0001c0001t0104g0126 a0001c0001t0113g0079 a0001c0001t0122g0189 a0001c0001t0124g0180 a0001c0001t0127g0175 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0104 a0001c0002t0001g0111 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0017g0050 a0001c0002t0020g0075 a0001c0002t0031g0219 a0001c0002t0068g0090 a0001c0002t0069g0234 a0001c0002t0075g0081 a0001c0002t0078g0004 a0001c0002t0080g0085 a0001c0002t0084g0129 a0001c0002t0089g0011 a0001c0002t0097g0251 a0001c0002t0100g0342 a0001c0002t0123g0186 a0001c0002t0125g0191 a0001c0003t0057g0055 a0001c0003t0058g0070 a0001c0003t0059g0069 a0001c0005t0033g0017 a0001c0005t0033g0018 a0001c0006t0003g0225 a0001c0006t0003g0226 a0001c0010t0116g0224 a0001c0015t0050g0019 a0004c0011t0045g0253	105	182	0.5769	-33	c.-10 others(43): Show c.-1030_-998delGGCTCGGCGGGGGCTCGGCGGGGGCTCGGCGGG	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding		597		chr21	TogoVar
ADARB1_chr21_45069580_45231560	45133747	GGTGTGTG others(26): Show GGTGTGTGCCCGACGGTGTGTGCGCCCGATGGGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0092 a0001c0013t0092	a0001c0013t0092g0034 a0001c0013t0092g0034	1	347	0.0029	-33	c.-48 others(50): Show c.-48+5188_-48+5220delGGTGTGTGCGCCCGATGGGTGTGTGTGC CCGAC	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1298720	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	48	0.0208	-33	c.107 others(54): Show c.1078-27684_1078-27652delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1373749	TGTGGACT others(26): Show TGTGGACTCCATGCACCTTTCCTAATGAGACCAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18988.hp2 HG01081.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0052 a0001c0001t0003 a0001c0001t0052	a0001c0001t0003g0094 a0001c0001t0052g0062 a0001c0001t0003g0094 a0001c0001t0052g0062	2	106	0.0189	-33	c.187 others(50): Show c.187+5292_187+5324delGTGGTCTCATTAGGAAAGGTGCATGGAG TCCAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	2/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1373781	ACGTGGAC others(26): Show ACGTGGACTCCGCGCACCTTTCCTAGTGAGACCG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0092 a0001c0001t0059g0092	1	82	0.0122	-33	c.187 others(50): Show c.187+5260_187+5292delCGGTCTCACTAGGAAAGGTGCGCGGAGT CCACG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	2/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1373931	CTTCCTAG others(26): Show CTTCCTAGTGAAACCGCGTGGGCTCCGCGCACCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG03209.hp2 others(2): Show HG02630.hp1 HG02886.hp1 HG03209.hp2 HG03540.hp1 NA21309.hp1	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0001 a0001c0007 a0007c0013 others(1): Show a0001c0001 a0001c0007 a0007c0013 a0011c0011	a0001c0001t0019 a0001c0007t0033 a0001c0007t0066 others(2): Show a0001c0001t0019 a0001c0007t0033 a0001c0007t0066 a0007c0013t0020 a0011c0011t0034	a0001c0001t0019g0038 a0001c0007t0033g0041 a0001c0007t0066g0105 others(2): Show a0001c0001t0019g0038 a0001c0007t0033g0041 a0001c0007t0066g0105 a0007c0013t0020g0037 a0011c0011t0034g0076	5	106	0.0472	-33	c.187 others(50): Show c.187+5110_187+5142delAGGTGCGCGGAGCCCACGCGGTTTCACT AGGAA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	2/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1373958	CGCACCTT others(26): Show CGCACCTTTCCTAGTGAAACCGCGTGGACTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18988.hp2 HG01081.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0052 a0001c0001t0003 a0001c0001t0052	a0001c0001t0003g0094 a0001c0001t0052g0062 a0001c0001t0003g0094 a0001c0001t0052g0062	2	106	0.0189	-33	c.187 others(50): Show c.187+5083_187+5115delACGGAGTCCACGCGGTTTCACTAGGAAA GGTGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	2/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1675485	ATGGATGT others(26): Show ATGGATGTTCTGGAGGTTTGGGTTTGGGGATGCG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	106	0.0094	-33	c.100 others(52): Show c.100+61533_100+61565delCGCATCCCCAAACCCAAACCTCCAGA ACATCCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADCY6_chr12_48761194_48794089	48781896	TGCCCAGC others(26): Show TGCCCAGCATGGGGAAGGTGGGATACGATCAGAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0103 a0001c0001t0011g0103	1	302	0.0033	-33	c.864 others(48): Show c.864+642_864+674delGTCTGATCGTATCCCACCTTCCCCATGCTG GGC	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/21			chr12	TogoVar
ADCY8_chr8_130775301_131045909	130779776	CAAGTGGC others(26): Show CAAGTGGCCAACTTAATTTTCTTTGTTGCCTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	244	0.0041	-33	c.58 others(42): Show c.581_*613delTAGAGGCAACAAAGAAAATTAAGTTGGCCACTT	ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding		524		chr8	TogoVar
ADD2_chr2_70651784_70773200	70772200	CCTCTATG others(26): Show CCTCTATGGCTGATGCTGCTCTGGAAACAGAAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0037 a0002c0002t0022g0037	1	300	0.0033	-33	c.-45 others(44): Show c.-4501_-4469delACTTCTGTTTCCAGAGCAGCATCAGCCATAGAG	ADD2	ENSG00000075340.23	transcript	ENST00000264436.9	protein_coding		4001		chr2	TogoVar
ADGRB3_chr6_68630282_69394506	69329046	AAAAGATA others(26): Show AAAAGATATACTGAATCTCTATTAGTATATCTTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01069.hp1 others(33): Show HG00099.hp2 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01256.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG02074.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18906.hp1 NA18957.hp2 NA19043.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0005 a0004c0008 a0001c0002 a0002c0005 a0004c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0002c0005t0001 a0002c0005t0002 a0004c0008t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0006 others(33): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0027 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0054 a0001c0002t0001g0086 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0106 a0001c0002t0002g0036 a0001c0002t0002g0040 a0001c0002t0002g0052 a0001c0002t0002g0063 a0001c0002t0002g0069 a0001c0002t0002g0109 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0004g0051 a0001c0002t0006g0115 a0002c0005t0001g0003 a0002c0005t0001g0021 a0002c0005t0001g0048 a0002c0005t0002g0025 a0002c0005t0002g0026 a0004c0008t0001g0092	36	118	0.3051	-33	c.303 others(52): Show c.3035+1202_3035+1234delGAATCTCTATTAGTATATCTTGAAAG ATATACT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	22/31		INFO_REALIGN_3_PRIME	chr6	TogoVar

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