Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
A4GALT_chr22_42687121_42725870	42708545	A A	AGAAGGAA others(37): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0205 a0001c0002t0005g0205	1	74	0.0135	44	c.-18 others(65): Show c.-188+12208_-188+12251dupCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AADACL4_chr1_12639085_12672076	12658139	C C	CCTTCCTT others(37): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	244	0.0041	44	c.386 others(61): Show c.386-3649_386-3648insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AARSD1_chr17_42945526_42969454	42967496	A A	ATATATAA others(37): Show ATATATAAAATTAATATATAATATATATATTTTATATATAAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02145.hp2 HG03669.hp1 others(2): Show HG02015.hp1 HG02145.hp2 HG03669.hp1 NA18961.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0126 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0126 a0001c0001t0001g0131	5	112	0.0446	44	c.-30 others(55): Show c.-3057_-3056insAATTTTATATATAAAATATATATATTATATATTA ATTTTATATA	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		3043		chr17	TogoVar
AATK_chr17_81112295_81171221	81117213	A A	AGGGCTGG others(37): Show AGGGCTGGCATCGGGTTCCTGGCACAGCCCCTCCTGTCCAGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	366	0.0027	44	c.11 others(55): Show c.1145_*1188dupAGTCCTGGACAGGAGGGGCTGTGCCAGGAACCCG ATGCCAGCCC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding		81		chr17	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGAAAG others(37): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02738.hp1 HG03098.hp2 others(2): Show HG02004.hp1 HG02738.hp1 HG03098.hp2 NA18747.hp2 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0037 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0001t0037 a0001c0003t0003 a0001c0003t0004 a0002c0002t0003	a0001c0001t0002g0136 a0001c0001t0037g0286 a0001c0003t0003g0295 others(2): Show a0001c0001t0002g0136 a0001c0001t0037g0286 a0001c0003t0003g0295 a0001c0003t0004g0360 a0002c0002t0003g0239	5	76	0.0658	44	c.70+ others(59): Show c.70+2181_70+2182insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18612.hp1 NA18979.hp2 others(1): Show HG03492.hp2 NA18612.hp1 NA18979.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0002 a0001c0003t0003 a0001c0003t0004 others(1): Show a0001c0001t0002 a0001c0003t0003 a0001c0003t0004 a0002c0005t0001	a0001c0001t0002g0096 a0001c0003t0003g0102 a0001c0003t0004g0284 others(1): Show a0001c0001t0002g0096 a0001c0003t0003g0102 a0001c0003t0004g0284 a0002c0005t0001g0209	4	75	0.0533	44	c.70+ others(59): Show c.70+2181_70+2182insAGGAAGGAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA19084.hp1 HG01169.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0010 a0001c0001t0001 a0003c0010t0010	a0001c0001t0001g0194 a0003c0010t0010g0338 a0001c0001t0001g0194 a0003c0010t0010g0338	2	73	0.0274	44	c.70+ others(59): Show c.70+2181_70+2182insAGGAAGGAAGGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69177970	A A	ATATATAT others(37): Show ATATATATATATATATATATGTTATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	332	0.0030	44	c.277 others(63): Show c.2770-2458_2770-2457insACATATATATATATATATATATAACA TATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177995	A A	ATATATAT others(37): Show ATATATATATATATATATATGTTTTATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0261 a0003c0003t0001g0261	1	336	0.0030	44	c.277 others(63): Show c.2770-2483_2770-2482insACATATATATATATATATATAAAACA TATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA13_chr7_48166458_48652497	48341835	T T	TATATATA others(37): Show TATATATATATATATCTTTCTGATATATATATATATATCTTTCTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0104 a0001c0104	a0001c0104t0005 a0001c0104t0005	a0001c0104t0005g0044 a0001c0104t0005g0044	1	176	0.0057	44	c.102 others(65): Show c.10204+3395_10204+3438dupCTTTCTGATATATATATATATATC TTTCTGATATATATATATAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	29/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411310	T T	TTTTCTTT others(37): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG03486.hp2 others(3): Show HG00741.hp1 HG01070.hp2 HG03486.hp2 NA19007.hp1 NA19060.hp1 NA20805.hp1	a0003 a0012 a0018 others(2): Show a0003 a0012 a0018 a0029 a0070	a0003c0003 a0012c0012 a0018c0026 others(2): Show a0003c0003 a0012c0012 a0018c0026 a0029c0096 a0070c0055	a0003c0003t0004 a0012c0012t0002 a0018c0026t0001 others(2): Show a0003c0003t0004 a0012c0012t0002 a0018c0026t0001 a0029c0096t0001 a0070c0055t0003	a0003c0003t0004g0034 a0003c0003t0004g0036 a0012c0012t0002g0098 others(3): Show a0003c0003t0004g0034 a0003c0003t0004g0036 a0012c0012t0002g0098 a0018c0026t0001g0081 a0029c0096t0001g0053 a0070c0055t0003g0125	6	142	0.0423	44	c.122 others(63): Show c.12228+650_12228+651insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTCTTTTCTTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	237	0.0042	44	c.931 others(59): Show c.931-880_931-879insATATATATATATATATATATATATATATAT TTTTTTTTTTTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TATATATA others(37): Show TATATATATACACATATATATATATACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	232	0.0043	44	c.930 others(59): Show c.930+861_930+862insGTGTATATATATATATGTGTATATATATAT ATGTGTATATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TATATATA others(37): Show TATATATATATATATATATATATACACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	232	0.0043	44	c.930 others(59): Show c.930+861_930+862insGTGTATATATATATATGTGTGTATATATAT ATATATATATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCB11_chr2_168915781_169036324	168975303	T T	TTATAGAT others(37): Show TTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01256.hp1 others(1): Show HG01099.hp2 HG01109.hp2 HG01256.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0083 a0001c0001t0001g0166 a0001c0002t0003g0116 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0166 a0001c0002t0003g0116 a0001c0002t0003g0158	4	283	0.0141	44	c.130 others(63): Show c.1308+1273_1308+1274insTATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB1_chr7_87498017_87605884	87502487	T T	TATATAAT others(37): Show TATATAATTATATATATTATATATATAATTATATATAATTTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02818.hp1 HG02145.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0260 a0001c0001t0001g0060 a0001c0001t0001g0260	2	349	0.0057	44	c.17 others(55): Show c.1755_*1756insTATAAAATTATATATAATTATATATATAATATAT ATAATTATAT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding		529		chr7	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02818.hp2 HG01071.hp2 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0004 a0001c0007t0011 a0001c0005t0004 a0001c0007t0011	a0001c0005t0004g0186 a0001c0007t0011g0022 a0001c0005t0004g0186 a0001c0007t0011g0022	2	105	0.0190	44	c.49- others(59): Show c.49-7977_49-7976insCTCTCTCTCTCTCTGTCTCTTTCTTTCTTT CTTTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16124335	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG01978.hp1 others(1): Show HG01071.hp2 HG01109.hp1 HG01978.hp1 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0004 a0001c0005t0004 a0001c0003t0004 a0001c0005t0004	a0001c0003t0004g0185 a0001c0003t0004g0237 a0001c0005t0004g0186 others(1): Show a0001c0003t0004g0185 a0001c0003t0004g0237 a0001c0005t0004g0186 a0001c0005t0004g0242	4	150	0.0267	44	c.359 others(61): Show c.3591-440_3591-439insTGTGTGTGTGTGTGTGTGTATGTGTGTG TATGTGTGTGTGTGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99814598	C C	CACATGTG others(37): Show CACATGTGTATATACACATATACACACATGTGTATATACACATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0030 a0005c0008t0001g0030	1	332	0.0030	44	c.209 others(63): Show c.2094+1457_2094+1458insTGTGTATATACACATATACACACATG TGTATATACACATATACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673978	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	273	0.0037	44	c.259 others(61): Show c.2599+323_2599+324insTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95126732	T T	TATATATA others(37): Show TATATATATTCCAAAATATATATATATATATATATATATTCCAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0013 a0013	a0013c0035 a0013c0035	a0013c0035t0003 a0013c0035t0003	a0013c0035t0003g0149 a0013c0035t0003g0149	1	238	0.0042	44	c.245 others(65): Show c.2456-10732_2456-10731insTTTGGAATATATATATATATATAT ATATATTTTGGAATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95144255	C C	CATAAAAT others(37): Show CATAAAATATTATACTATATAGTATAAAATATTATACTATATAGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19240.hp1 HG02280.hp1 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0045 a0001c0009 a0001c0045	a0001c0009t0001 a0001c0045t0001 a0001c0009t0001 a0001c0045t0001	a0001c0009t0001g0128 a0001c0045t0001g0129 a0001c0009t0001g0128 a0001c0045t0001g0129	2	183	0.0109	44	c.245 others(65): Show c.2455+16933_2455+16934insACTATATAGTATAATATTTTATAC TATATAGTATAATATTTTAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC6_chr16_16144565_16228494	16227933	A A	AATATCAC others(37): Show AATATCACAGTGGGTGTACACCCTGAGGAGATATTACTTCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02280.hp1 HG02922.hp1 others(1): Show HG02273.hp2 HG02280.hp1 HG02922.hp1 HG02970.hp2	a0003 a0008 a0003 a0008	a0003c0005 a0008c0011 a0003c0005 a0008c0011	a0003c0005t0001 a0008c0011t0003 a0003c0005t0001 a0008c0011t0003	a0003c0005t0001g0307 a0008c0011t0003g0058 a0008c0011t0003g0059 others(1): Show a0003c0005t0001g0307 a0008c0011t0003g0058 a0008c0011t0003g0059 a0008c0011t0003g0091	4	356	0.0112	44	c.-45 others(55): Show c.-4500_-4499insCAGAGGAAGTAATATCTCCTCAGGGTGTACACCC ACTGTGATAT	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding		4440		chr16	TogoVar
ABCG2_chr4_88085269_88163639	88115232	G G	GTCTCTCT others(37): Show GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA20752.hp1 NA19011.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0221 a0001c0001t0001g0174 a0001c0001t0001g0221	2	214	0.0093	44	c.842 others(59): Show c.842-175_842-174insGAGAGAGAGAGAGAGAGAGAGAGAGAGACA GAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18983.hp2 NA18942.hp2 NA18983.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0006 a0003c0003t0003g0006	2	169	0.0118	44	c.842 others(59): Show c.842-199_842-198insTATATATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0183 a0003c0003t0003g0183	1	168	0.0060	44	c.842 others(59): Show c.842-199_842-198insTATATATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18939.hp2 NA18995.hp1 HG02071.hp1 NA18939.hp2 NA18995.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0250 a0003c0003t0003g0251 a0003c0003t0003g0253 a0003c0003t0003g0250 a0003c0003t0003g0251 a0003c0003t0003g0253	3	170	0.0176	44	c.842 others(59): Show c.842-199_842-198insTATATATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0313 a0003c0003t0003g0313	1	168	0.0060	44	c.842 others(59): Show c.842-199_842-198insTATATATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA19057.hp2 HG01928.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0111 a0002c0002t0001g0065 a0001c0001t0001g0111 a0002c0002t0001g0065	2	169	0.0118	44	c.842 others(59): Show c.842-199_842-198insTATATATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	168	0.0060	44	c.842 others(59): Show c.842-199_842-198insTATATAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03654.hp1 HG03927.hp1 HG00544.hp2 HG03654.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0222 a0001c0001t0001g0243 a0002c0002t0002g0069 a0001c0001t0001g0222 a0001c0001t0001g0243 a0002c0002t0002g0069	3	170	0.0176	44	c.842 others(59): Show c.842-199_842-198insTATAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88147016	G G	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01433.hp2 HG02132.hp2 HG01256.hp1 HG01433.hp2 HG02132.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0002c0002t0001g0070 a0001c0001t0001g0003 a0002c0002t0001g0070	3	132	0.0227	44	c.-19 others(61): Show c.-19-7003_-19-7002insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	1/15			chr4	TogoVar
ABCG8_chr2_43833971_43887988	43857117	A A	AGATAGAA others(37): Show AGATAGAACTCTCACTATCTATCTGAATAGAATTCACACTCTCTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show HG01192.hp1 HG02895.hp2 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0020 a0003c0010t0110 a0003c0010t0020 a0003c0010t0110	a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 a0003c0010t0110g0039	4	315	0.0127	44	c.964 others(61): Show c.964+4273_964+4274insAATAGAATTCACACTCTCTTGATAGAAC TCTCACTATCTATCTG	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43860902	C C	CTATCTGG others(37): Show CTATCTGGATAGAATTCTCACTCTCTGGATAGAACTCTCACTATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01943.hp1 others(19): Show HG00438.hp1 HG00741.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02074.hp2 HG02132.hp1 HG02165.hp1 HG02451.hp2 HG02818.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp2 HG03834.hp2 HG04184.hp1 NA18939.hp2 NA18957.hp1 NA18974.hp2 NA19007.hp2 NA19030.hp1 NA20129.hp2	a0003 a0006 a0010 a0003 a0006 a0010	a0003c0002 a0003c0021 a0003c0022 others(2): Show a0003c0002 a0003c0021 a0003c0022 a0006c0005 a0010c0013	a0003c0002t0001 a0003c0002t0004 a0003c0021t0007 others(9): Show a0003c0002t0001 a0003c0002t0004 a0003c0021t0007 a0003c0022t0014 a0006c0005t0002 a0006c0005t0004 a0006c0005t0027 a0006c0005t0041 a0006c0005t0088 a0010c0013t0002 a0010c0013t0005 a0010c0013t0099	a0003c0002t0001g0021 a0003c0002t0001g0189 a0003c0002t0001g0214 others(17): Show a0003c0002t0001g0021 a0003c0002t0001g0189 a0003c0002t0001g0214 a0003c0002t0004g0172 a0003c0021t0007g0030 a0003c0022t0014g0261 a0006c0005t0002g0245 a0006c0005t0002g0260 a0006c0005t0004g0023 a0006c0005t0004g0218 a0006c0005t0004g0219 a0006c0005t0004g0221 a0006c0005t0004g0244 a0006c0005t0004g0259 a0006c0005t0027g0220 a0006c0005t0041g0243 a0006c0005t0088g0246 a0010c0013t0002g0167 a0010c0013t0005g0168 a0010c0013t0099g0183	22	316	0.0696	44	c.964 others(61): Show c.964+8045_964+8088dupGAATTCTCACTCTCTGGATAGAACTCTC ACTATATATCTGGATA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43868492	T T	TTATCTGT others(37): Show TTATCTGTCTGGATAGAATTCTCACCATCTGCATAGAATATTCAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0043 a0015c0028t0043	a0015c0028t0043g0291 a0015c0028t0043g0291	1	316	0.0032	44	c.965 others(61): Show c.965-3462_965-3419dupCACCATCTGCATAGAATATTCACTATCT GTCTGGATAGAATTCT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG03130.hp1 NA18961.hp1 HG02165.hp1 HG03130.hp1 NA18961.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 a0001c0001t0001 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0237 a0002c0002t0002g0229 a0003c0003t0003g0075 a0001c0001t0001g0237 a0002c0002t0002g0229 a0003c0003t0003g0075	3	119	0.0252	44	c.-11 others(55): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 NA18968.hp1 HG01516.hp2 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0335 a0002c0002t0002g0096 a0002c0002t0002g0335	2	118	0.0169	44	c.-11 others(55): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 NA18971.hp2 HG03710.hp2 NA18971.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0014 a0003c0003t0001 a0001c0001t0014 a0003c0003t0001	a0001c0001t0014g0349 a0003c0003t0001g0052 a0001c0001t0014g0349 a0003c0003t0001g0052	2	118	0.0169	44	c.-11 others(55): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18991.hp2 HG00438.hp1 NA18991.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0114 a0003c0003t0001g0117 a0001c0001t0001g0114 a0003c0003t0001g0117	2	118	0.0169	44	c.-11 others(55): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	117	0.0085	44	c.-11 others(55): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	117	0.0085	44	c.-11 others(55): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01256.hp2 HG03490.hp1 HG00621.hp1 HG01256.hp2 HG03490.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0222 a0001c0001t0001g0238 a0003c0003t0001g0140 a0001c0001t0001g0222 a0001c0001t0001g0238 a0003c0003t0001g0140	3	119	0.0252	44	c.-11 others(55): Show c.-1192_-1191insAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(37): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02148.hp2 NA18980.hp2 others(2): Show HG01981.hp1 HG02148.hp2 NA18980.hp2 NA18998.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0004 a0002c0002t0002 a0001c0001t0001 a0001c0005t0004 a0002c0002t0002	a0001c0001t0001g0160 a0001c0001t0001g0256 a0001c0001t0001g0263 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0005t0004g0017 a0002c0002t0002g0161	5	121	0.0413	44	c.-11 others(55): Show c.-1192_-1191insAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(37): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01928.hp1 HG03831.hp1 others(1): Show HG01070.hp1 HG01928.hp1 HG03831.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0018 a0001c0001t0001g0123 a0001c0001t0001g0274 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0123 a0001c0001t0001g0274 a0001c0005t0004g0261	4	120	0.0333	44	c.-11 others(55): Show c.-1192_-1191insAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG00735.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0212 a0001c0002t0002g0163 a0001c0002t0002g0212	2	94	0.0213	44	c.422 others(59): Show c.422+943_422+944insAAAAAAAATATATATATATATATATATATA TATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD6_chr3_58232792_58299734	58286842	G G	GTGTGTGT others(37): Show GTGTGTGTATATATATATATATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	295	0.0034	44	c.837 others(61): Show c.837+1396_837+1397insATATATATATATATGTATATATATATAT ATATATATATGTGTGT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286844	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03491.hp2 HG03492.hp1 others(4): Show HG00735.hp2 HG03491.hp2 HG03492.hp1 NA18946.hp2 NA19002.hp1 NA19065.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0101 a0001c0001t0002g0152 others(4): Show a0001c0001t0002g0086 a0001c0001t0002g0101 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169	7	293	0.0239	44	c.837 others(61): Show c.837+1396_837+1397insATATATATATATATGTATATATATATAT ATATATATATATGTGT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(37): Show GTATATATATATATATGTATATATATATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp2 HG01256.hp2 others(7): Show HG00741.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG02257.hp2 HG03017.hp2 HG04199.hp1 NA18939.hp1 NA19011.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0106 a0001c0001t0002g0115 a0001c0001t0002g0124 others(7): Show a0001c0001t0002g0106 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0147 a0001c0001t0002g0172 a0001c0001t0009g0035 a0001c0001t0009g0048 a0001c0001t0009g0049	10	93	0.1075	44	c.837 others(61): Show c.837+1396_837+1397insATATATATATATATGTATATATATATAT ATATATATATGTGTAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(37): Show GTATATATATATATGTATATATATATATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01928.hp1 HG01952.hp2 others(2): Show HG01358.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0123 others(2): Show a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0144 a0001c0001t0002g0151	5	88	0.0568	44	c.837 others(61): Show c.837+1396_837+1397insATATATATATATGTATATATATATATAT ATATATATATGTGTAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABLIM2_chr4_7960327_8163813	8062065	G G	GCAGGTGA others(37): Show GCAGGTGAGGAGGTTGACTTCAGTCCTGCCCAGGACTGAAGGCAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	254	0.0039	44	c.676 others(61): Show c.676-1012_676-1011insGTGCCTTCAGTCCTGGGCAGGACTGAAG TCAACCTCCTCACCTG	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	6/20			chr4	TogoVar

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