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
ACACA_chr17_37079992_37411836	37081323	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 NA18973.hp2 HG03130.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0197 a0001c0001t0003g0098 a0001c0001t0001g0197 a0001c0001t0003g0098	2	171	0.0117	24	c.59 others(35): Show c.5992_*5993insACACACACACACACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding		3668		chr17	TogoVar
ACACA_chr17_37079992_37411836	37112049	A A	ACTATCTA others(17): Show ACTATCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp1 HG03491.hp2 others(2): Show HG03041.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0017 a0001c0004t0020 a0001c0001t0003 a0001c0001t0017 a0001c0004t0020	a0001c0001t0003g0091 a0001c0001t0003g0182 a0001c0001t0003g0183 others(2): Show a0001c0001t0003g0091 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0017g0002 a0001c0004t0020g0026	5	62	0.0806	24	c.645 others(41): Show c.6453-430_6453-407dupATAGATAGATAGATAGATAGATAG	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	51/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	242	0.0041	24	c.507 others(43): Show c.5079+5254_5079+5277dupTATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	99	0.0101	24	c.507 others(43): Show c.5079+5239_5079+5240insAATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0270 a0001c0002t0001g0270	1	99	0.0101	24	c.507 others(43): Show c.5079+5239_5079+5240insAAAAAATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18970.hp2 HG02970.hp1 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0005 a0001c0002t0001 a0001c0004t0005	a0001c0002t0001g0266 a0001c0004t0005g0192 a0001c0002t0001g0266 a0001c0004t0005g0192	2	100	0.0200	24	c.507 others(43): Show c.5079+5239_5079+5240insAAAAAAAAAATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268743	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18980.hp2 NA19068.hp1 others(1): Show NA18970.hp1 NA18980.hp2 NA19068.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0122 a0001c0001t0003g0123 others(1): Show a0001c0001t0003g0112 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0145	4	242	0.0165	24	c.111 others(43): Show c.1119+2007_1119+2008insGATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37291143	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03491.hp2 HG03492.hp2 others(5): Show HG02145.hp2 HG03491.hp2 HG03492.hp2 NA18991.hp1 NA18999.hp1 NA19068.hp1 NA19078.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0005 a0001c0001t0003 a0001c0004t0005	a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0123 others(5): Show a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0147 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0004t0005g0190	8	118	0.0678	24	c.339 others(41): Show c.339-6197_339-6174dupGTGTGTGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(17): Show TATATATATATATATACATACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	41	0.0244	24	c.38+ others(41): Show c.38+16086_38+16087insGTGTGTATGTATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19000.hp2 HG03942.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0013 a0001c0002t0001 a0001c0003t0013	a0001c0002t0001g0080 a0001c0003t0013g0110 a0001c0002t0001g0080 a0001c0003t0013g0110	2	42	0.0476	24	c.38+ others(41): Show c.38+16086_38+16087insGTGTATATATATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	194	0.0052	24	c.38+ others(41): Show c.38+15934_38+15957dupTATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG03041.hp1 HG02572.hp1 HG02572.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0008 a0001c0004t0005 a0001c0002t0008 a0001c0004t0005	a0001c0002t0008g0039 a0001c0002t0008g0043 a0001c0004t0005g0117 a0001c0002t0008g0039 a0001c0002t0008g0043 a0001c0004t0005g0117	3	196	0.0153	24	c.38+ others(41): Show c.38+15957_38+15958insTATATATATATATATATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390315	T T	TATATATT others(17): Show TATATATTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0153 a0001c0004t0005g0153	1	297	0.0034	24	c.38+ others(41): Show c.38+15946_38+15947insTATATATATATATATATAATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp2 HG01169.hp2 others(10): Show HG00609.hp2 HG01167.hp2 HG01169.hp2 HG01515.hp1 HG01517.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02630.hp1 HG02818.hp2 HG02895.hp1 NA18939.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0027 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0027 a0001c0002t0001 a0001c0002t0022 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0210 a0001c0001t0001g0233 a0001c0001t0001g0263 others(10): Show a0001c0001t0001g0210 a0001c0001t0001g0233 a0001c0001t0001g0263 a0001c0001t0007g0093 a0001c0001t0027g0264 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0249 a0001c0002t0001g0261 a0001c0002t0001g0284 a0001c0002t0022g0236 a0001c0003t0001g0241 a0001c0009t0001g0262	13	68	0.1912	24	c.38+ others(41): Show c.38+15931_38+15932insGATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(17): Show ATATATATCTATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	56	0.0179	24	c.38+ others(41): Show c.38+15931_38+15932insGATATATAGATATATAGATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG02015.hp1 others(3): Show HG00609.hp2 HG00639.hp1 HG02015.hp1 HG04199.hp1 NA18955.hp1 NA19066.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0086 a0003c0001 a0003c0005 others(2): Show a0002c0086 a0003c0001 a0003c0005 a0005c0009 a0005c0019	a0002c0086t0003 a0003c0001t0001 a0003c0005t0002 others(2): Show a0002c0086t0003 a0003c0001t0001 a0003c0005t0002 a0005c0009t0003 a0005c0019t0003	a0002c0086t0003g0258 a0003c0001t0001g0138 a0003c0005t0002g0064 others(3): Show a0002c0086t0003g0258 a0003c0001t0001g0138 a0003c0005t0002g0064 a0005c0009t0003g0302 a0005c0019t0003g0135 a0005c0019t0003g0269	6	97	0.0619	24	c.787 others(39): Show c.787-265_787-242dupATATATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109222294	C C	CGAGTGAG others(17): Show CGAGTGAGTGAGTGAGTGAGTGAGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18951.hp2 NA18962.hp2 others(2): Show HG01069.hp2 NA18951.hp2 NA18962.hp2 NA18966.hp1 NA18987.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0010 a0001c0013 a0003c0001 others(1): Show a0001c0010 a0001c0013 a0003c0001 a0005c0009	a0001c0010t0002 a0001c0013t0001 a0003c0001t0001 others(1): Show a0001c0010t0002 a0001c0013t0001 a0003c0001t0001 a0005c0009t0006	a0001c0010t0002g0259 a0001c0013t0001g0136 a0003c0001t0001g0062 others(2): Show a0001c0010t0002g0259 a0001c0013t0001g0136 a0003c0001t0001g0062 a0003c0001t0001g0132 a0005c0009t0006g0256	5	196	0.0255	24	c.356 others(41): Show c.3565-191_3565-190insGTGAGTGAGTGAGTGAGTGAGTGA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	24/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19003.hp2 NA20905.hp1 NA18980.hp1 NA19003.hp2 NA20905.hp1	a0001 a0037 a0001 a0037	a0001c0002 a0001c0050 a0037c0100 a0001c0002 a0001c0050 a0037c0100	a0001c0002t0001 a0001c0050t0001 a0037c0100t0001 a0001c0002t0001 a0001c0050t0001 a0037c0100t0001	a0001c0002t0001g0035 a0001c0050t0001g0274 a0037c0100t0001g0070 a0001c0002t0001g0035 a0001c0050t0001g0274 a0037c0100t0001g0070	3	27	0.1111	24	c.678 others(41): Show c.6787+491_6787+514dupATATATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111700723	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(4): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(4): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0325	7	331	0.0211	24	c.188 others(41): Show c.188-1418_188-1417insTCCTTCCTTCCTTCCTTCCTTCCT	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132641560	T T	TGAAGAAG others(17): Show TGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0030 a0001c0004t0002g0030	1	121	0.0083	24	c.537 others(39): Show c.537+388_537+411dupTTCTTCTTCTTCTTCTTCTTCTTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACAD9_chr3_128874620_128918114	128887644	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03516.hp2 NA20129.hp1 HG02258.hp2 HG03516.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0037 a0001c0003t0005g0192 a0001c0003t0005g0037 a0001c0003t0005g0192	3	111	0.0270	24	c.244 others(41): Show c.244+2899_244+2922dupATATATATATATATATATATATAT	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACADL_chr2_210182923_210230447	210214467	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00544.hp2 others(42): Show HG00140.hp2 HG00544.hp1 HG00544.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01192.hp2 HG01496.hp2 HG01891.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02258.hp2 HG02293.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03654.hp2 HG03834.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18954.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18995.hp2 NA19077.hp2 NA19085.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0052 others(41): Show a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0002g0222 a0001c0001t0004g0053 a0002c0002t0001g0071 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0171 a0002c0002t0001g0174 a0002c0002t0001g0227 a0002c0002t0001g0234	45	66	0.6818	24	c.536 others(41): Show c.536+1856_536+1879dupCTTTCTTTCTTTCTTTCTTTCTTT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADL_chr2_210182923_210230447	210214509	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	253	0.0040	24	c.536 others(41): Show c.536+1837_536+1838insCTCTTTCTTTCTTTCTTTCTTTCT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADM_chr1_75719709_75768679	75736173	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	15	0.0667	24	c.468 others(41): Show c.468+1311_468+1334dupACACACACACACACACACACACAC	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75737327	T T	TATATATA others(17): Show TATATATATATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	349	0.0029	24	c.468 others(41): Show c.468+2456_468+2457insATATATATATATATATATATATGA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11			chr1	TogoVar
ACADM_chr1_75719709_75768679	75753795	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp1 HG02897.hp1 others(2): Show HG01192.hp2 HG02486.hp1 HG02897.hp1 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(2): Show a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0004t0005g0284 a0001c0004t0005g0290	5	90	0.0556	24	c.945 others(41): Show c.945+3268_945+3269insTTTTTTTTTTTTTTTTTTTTTTTT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAN_chr15_88798436_88880353	88830565	G G	GATACACA others(17): Show GATACACAAATACTTGCCTTTGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03942.hp1 HG04199.hp1 others(4): Show HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18986.hp2 NA18993.hp2 NA19070.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0027 a0076	a0001c0001 a0003c0002 a0005c0006 others(4): Show a0001c0001 a0003c0002 a0005c0006 a0006c0004 a0006c0037 a0027c0156 a0076c0157	a0001c0001t0001 a0003c0002t0001 a0005c0006t0001 others(4): Show a0001c0001t0001 a0003c0002t0001 a0005c0006t0001 a0006c0004t0001 a0006c0037t0001 a0027c0156t0001 a0076c0157t0001	a0001c0001t0001g0360 a0003c0002t0001g0092 a0005c0006t0001g0332 others(4): Show a0001c0001t0001g0360 a0003c0002t0001g0092 a0005c0006t0001g0332 a0006c0004t0001g0089 a0006c0037t0001g0191 a0027c0156t0001g0243 a0076c0157t0001g0130	7	365	0.0192	24	c.-7- others(39): Show c.-7-5620_-7-5597dupGCCTTTGTGTATACACAAATACTT	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0034 a0001c0002t0004g0034	1	249	0.0040	24	c.176 others(41): Show c.1765+110_1765+111insATATATATATTTTTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195400210	G G	GTATATAT others(17): Show GTATATATATATGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0003 a0001c0001t0024g0003	1	320	0.0031	24	c.54- others(39): Show c.54-8087_54-8064dupTATATACACACACATATATATATA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288296	C C	CCCGTGTC others(17): Show CCCGTGTCTCTGCTCCGTCCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0154 a0001c0022t0001g0154	1	283	0.0035	24	c.52 others(35): Show c.5267_*5268insACGGGGGACGGAGCAGAGACACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4094		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01175.hp1 others(15): Show HG00558.hp1 HG00621.hp1 HG01175.hp1 HG01952.hp2 HG01981.hp1 HG02135.hp2 HG02155.hp1 HG02630.hp1 HG03492.hp1 HG03831.hp1 HG03834.hp2 NA18941.hp1 NA18942.hp1 NA18950.hp2 NA18972.hp1 NA18980.hp1 NA19077.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0068 a0002c0002t0002g0270 a0002c0002t0002g0271 others(15): Show a0001c0001t0001g0068 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0300 a0002c0002t0002g0304 a0002c0002t0002g0313 a0002c0002t0002g0316 a0002c0002t0002g0318	18	30	0.6000	24	c.73- others(37): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	251	0.0040	24	c.375 others(41): Show c.375+2932_375+2933insAAAAAAAATATATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	251	0.0040	24	c.375 others(41): Show c.375+2932_375+2933insAAAAAAAAAAAATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	251	0.0040	24	c.375 others(41): Show c.375+2932_375+2933insAAAAAAAAAAAAAATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACCS_chr11_44061270_44089237	44072148	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02027.hp2 HG03579.hp2 others(1): Show HG01516.hp2 HG02027.hp2 HG03579.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0001c0001t0001 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0161 a0002c0003t0001g0185 a0002c0004t0001g0104 others(1): Show a0001c0001t0001g0161 a0002c0003t0001g0185 a0002c0004t0001g0104 a0002c0004t0001g0184	4	218	0.0183	24	c.348 others(39): Show c.348+838_348+861dupTTTATTTATTTATTTATTTATTTA	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074734	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02040.hp1 HG02622.hp1 others(2): Show HG00639.hp1 HG02040.hp1 HG02622.hp1 HG03041.hp1 HG04228.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0004 a0004c0005 others(1): Show a0001c0001 a0002c0004 a0004c0005 a0006c0007	a0001c0001t0004 a0002c0004t0007 a0004c0005t0003 others(1): Show a0001c0001t0004 a0002c0004t0007 a0004c0005t0003 a0006c0007t0001	a0001c0001t0004g0110 a0001c0001t0004g0169 a0002c0004t0007g0136 others(2): Show a0001c0001t0004g0110 a0001c0001t0004g0169 a0002c0004t0007g0136 a0004c0005t0003g0275 a0006c0007t0001g0091	5	252	0.0198	24	c.489 others(37): Show c.489+71_489+94dupCTTTCTTTCTTTCTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77025392	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02647.hp2 others(1): Show HG01884.hp1 HG02055.hp2 HG02647.hp2 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0129 a0001c0003t0134 a0001c0003t0135 others(1): Show a0001c0003t0129 a0001c0003t0134 a0001c0003t0135 a0001c0003t0142	a0001c0003t0129g0346 a0001c0003t0134g0344 a0001c0003t0135g0341 others(1): Show a0001c0003t0129g0346 a0001c0003t0134g0344 a0001c0003t0135g0341 a0001c0003t0142g0334	4	111	0.0360	24	c.50 others(35): Show c.5084_*5085insATATATATATATATATATATATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11	5085	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACKR2_chr3_42804445_42872286	42822165	T T	TATAAATA others(17): Show TATAAATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	197	0.0051	24	c.-38 others(41): Show c.-38+2464_-38+2487dupTAAATAAATAAATAAATAAATAAA	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACKR3_chr2_236564825_236587354	236566718	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02004.hp1 HG02055.hp1 others(25): Show HG00621.hp2 HG02004.hp1 HG02055.hp1 HG02135.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 NA18945.hp2 NA18954.hp2 NA18962.hp2 NA18966.hp2 NA18980.hp2 NA18989.hp2 NA19007.hp2 NA19087.hp1 NA19088.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0123 a0001c0002t0001g0132 a0002c0004t0001g0023 a0002c0004t0001g0067	28	88	0.3182	24	c.-32 others(35): Show c.-3233_-3232insCCTTCCTTCCTTCCTTCCTTCCTT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		3106		chr2	TogoVar
ACLY_chr17_41861918_41923951	41900069	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0281 a0002c0002t0003g0281	1	22	0.0455	24	c.118 others(43): Show c.1184-1308_1184-1285dupTTTTTTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	11/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134834771	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp2 others(6): Show HG00735.hp2 HG01069.hp1 HG01071.hp2 HG02486.hp2 HG02809.hp1 NA18906.hp1 NA18963.hp2 NA19011.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0124 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0169 a0001c0001t0001g0229 a0001c0001t0001g0336	9	321	0.0280	24	c.-39 others(35): Show c.-3912_-3911insGGAAGGAAGGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3844		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	286	0.0035	24	c.-38 others(35): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01361.hp1 NA18995.hp1 HG00408.hp2 HG01361.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0348 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0348	3	288	0.0104	24	c.-38 others(35): Show c.-3876_-3875insGGAAGGAAGGAAGGAGGGAGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(17): Show GGGAGGGAGGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	128	0.0078	24	c.-38 others(35): Show c.-3832_-3831insGGAGGGAGGGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(17): Show ATTATTATTATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	262	0.0038	24	c.850 others(43): Show c.850-12093_850-12092insATTATTATTTTTTTTTTTTTTTTT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACO2_chr22_41464117_41533974	41513920	A A	ATGTGGAC others(17): Show ATGTGGACCACAAGTGTCTACACCG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	330	0.0030	24	c.526 others(41): Show c.526-1429_526-1406dupGGACCACAAGTGTCTACACCGTGT	ACO2	ENSG00000100412.17	transcript	ENST00000216254.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr22	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	95	0.0105	24	c.-43 others(35): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT2_chr14_73564213_73580655	73573734	G G	GTTTCTTT others(17): Show GTTTCTTTCTTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01109.hp2 others(10): Show HG01074.hp2 HG01081.hp1 HG01109.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG03490.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	13	422	0.0308	24	c.846 others(39): Show c.846+151_846+152insCTTTCTTCTTCTTCTTCTTTCTTT	ACOT2	ENSG00000119673.16	transcript	ENST00000238651.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
ACOT7_chr1_6259272_6398767	6306207	A A	AGAGGGGG others(17): Show AGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0175 a0001c0002t0003g0175	1	96	0.0104	24	c.713 others(43): Show c.713-11228_713-11227insCCCCTCCCCCTCCCCCTCCCCCTC	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8			chr1	TogoVar
ACOT9_chrX_23696055_23748276	23742209	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01346.hp1 HG01074.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0016 a0001c0001t0012 a0001c0002t0016	a0001c0001t0012g0060 a0001c0002t0016g0061 a0001c0001t0012g0060 a0001c0002t0016g0061	2	129	0.0155	24	c.20+ others(37): Show c.20+915_20+916insTCTCTCTCTCTCTCTCTCTCTCTC	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar

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