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
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGAAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01169.hp2 HG01261.hp2 others(1): Show HG00438.hp1 HG01169.hp2 HG01261.hp2 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 others(1): Show a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003	a0001c0003t0003g0136 a0001c0004t0001g0121 a0001c0004t0002g0192 others(1): Show a0001c0003t0003g0136 a0001c0004t0001g0121 a0001c0004t0002g0192 a0001c0004t0003g0044	4	100	0.0400	30	c.-41 others(51): Show c.-416-16766_-416-16765insCCTCCTCCTCCTCCTCCTTCTCCT TCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159940	G G	GAGGAGGA others(23): Show GAGGAGGAGGAGGAGAAGGAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0189 a0002c0001t0005g0189	1	152	0.0066	30	c.-41 others(51): Show c.-416-16799_-416-16798insTCTCCTTCTCCTCCTTCTCCTCCT CCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159955	G G	GAGGAGAA others(23): Show GAGGAGAAGGAGAAGGAGAAGGAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0044 a0002c0001t0044	a0002c0001t0044g0190 a0002c0001t0044g0190	1	139	0.0072	30	c.-41 others(51): Show c.-416-16814_-416-16813insTCTTCTTCTCCTTCTCCTTCTCCT TCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159961	G G	GAGGAGAA others(23): Show GAGGAGAAGGAGAAGGAGAAGGAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0002 a0002c0001t0029g0002	1	66	0.0152	30	c.-41 others(51): Show c.-416-16820_-416-16819insTCTTCTTCTCCTTCTCCTTCTCCT TCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APEH_chr3_49669351_49688971	49673801	C C	CCTCACGC others(23): Show CCTCACGCTCACGCTCACGCTCACGCTCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	190	0.0053	30	c.-60 others(39): Show c.-601_-600insCTCACGCTCACGCTCACGCTCACGCTCACG	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		549		chr3	TogoVar
APLF_chr2_68462585_68585162	68529871	G G	GGGCCAGA others(23): Show GGGCCAGAACCTGGAAGCAGAGCGCAGGACC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0168 a0002c0002t0010g0168	1	174	0.0057	30	c.804 others(47): Show c.804+3630_804+3659dupGGCCAGAACCTGGAAGCAGAGCGCAGGA CC	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APOA1_chr11_116830751_116842622	116842618	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 NA20300.hp2 HG01975.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	178	0.0112	30	c.-50 others(41): Show c.-5035_-5034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4997		chr11	TogoVar
APOA4_chr11_116815700_116828304	116824772	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0017 a0006c0012t0001g0017	1	289	0.0035	30	c.-15 others(41): Show c.-1582_-1581insATATATATATATATATATATATTTTTTTTT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		1469		chr11	TogoVar
APOA5_chr11_116784367_116796879	116784500	T T	TGGGGAAA others(23): Show TGGGGAAAAACAAAGCCAAACCCCACACAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	474	0.0021	30	c.55 others(41): Show c.5598_*5627dupTTTGTGTGGGGTTTGGCTTTGTTTTTCCCC	APOA5	ENSG00000110243.12	transcript	ENST00000227665.9	protein_coding		4866		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(23): Show GGAAGGAAAGAAAGAAAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp2 HG01433.hp2 others(6): Show HG00741.hp2 HG01255.hp2 HG01433.hp2 HG03490.hp2 HG03492.hp2 NA18969.hp1 NA18975.hp2 NA19011.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0119 others(6): Show a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0119 a0001c0002t0001g0164 a0001c0002t0001g0185 a0001c0002t0001g0215 a0001c0002t0001g0281 a0001c0002t0001g0293 a0001c0002t0001g0295	9	106	0.0849	30	c.16+ others(45): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTTTCTTTCTTTCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(23): Show GGAAGGAAGGAAAGAAAGAAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG01192.hp2 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0089 a0001c0002t0001g0080 a0001c0002t0001g0089	2	99	0.0202	30	c.16+ others(45): Show c.16+5481_16+5482insTTTCTTTCTTTTTCTTTCTTTCCTTCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660410	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02922.hp2 HG02976.hp1 others(3): Show HG01175.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp2 HG03486.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0297 a0001c0002t0001g0304 a0001c0002t0001g0322 others(3): Show a0001c0002t0001g0297 a0001c0002t0001g0304 a0001c0002t0001g0322 a0001c0002t0002g0344 a0001c0003t0001g0043 a0002c0001t0001g0106	6	334	0.0180	30	c.16+ others(45): Show c.16+5446_16+5447insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660412	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0350 a0002c0001t0001g0350	1	364	0.0027	30	c.16+ others(45): Show c.16+5444_16+5445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC3B_chr22_38977347_38997779	38988680	T T	TTTCTCTC others(23): Show TTTCTCTCTTCTCTCTTTCTCTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	351	0.0028	30	c.570 others(45): Show c.570-771_570-770insCTTCTCTCTTTCTCTCTTTCTCTCTTCTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(23): Show CTCTCTTTCTCTCCTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0140 a0005c0006t0001g0140	1	82	0.0122	30	c.570 others(45): Show c.570-771_570-770insCTTTCTCTCCTTCTTTCTTTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(23): Show CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02145.hp2 HG02647.hp1 others(4): Show HG01943.hp1 HG02145.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0007c0013 a0001c0001 a0007c0012 a0007c0013	a0001c0001t0001 a0007c0012t0001 a0007c0013t0001 a0001c0001t0001 a0007c0012t0001 a0007c0013t0001	a0001c0001t0001g0114 a0007c0012t0001g0007 a0007c0013t0001g0007 a0001c0001t0001g0114 a0007c0012t0001g0007 a0007c0013t0001g0007	7	88	0.0795	30	c.570 others(45): Show c.570-771_570-770insCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(23): Show CTCTCTTTCTCTCTTTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	82	0.0122	30	c.570 others(45): Show c.570-771_570-770insCTTTCTCTCTTTCTCTCTTTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(23): Show CTCTCTTTCTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01258.hp2 others(6): Show HG01256.hp2 HG01258.hp1 HG01258.hp2 NA18954.hp1 NA18965.hp1 NA18969.hp2 NA19057.hp2 NA19063.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0057 a0001c0001t0001g0094 a0001c0001t0001g0133	9	90	0.1000	30	c.570 others(45): Show c.570-771_570-770insCTTTCTCTCTTTCTTTCTTTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(23): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	82	0.0122	30	c.570 others(45): Show c.570-771_570-770insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOB_chr2_20996429_21049073	21000846	G G	GTAATTAT others(23): Show GTAATTATAAAATATGTAATTATAAACATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG02129.hp2 others(4): Show HG00597.hp2 HG02056.hp1 HG02129.hp2 HG03654.hp1 HG04228.hp1 NA18983.hp2 NA20752.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0095 a0008c0009 a0001c0001 a0006c0095 a0008c0009	a0001c0001t0001 a0006c0095t0001 a0008c0009t0001 a0001c0001t0001 a0006c0095t0001 a0008c0009t0001	a0001c0001t0001g0034 a0001c0001t0001g0156 a0001c0001t0001g0174 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0156 a0001c0001t0001g0174 a0001c0001t0001g0176 a0006c0095t0001g0169 a0008c0009t0001g0039	7	307	0.0228	30	c.88 others(39): Show c.883_*884insAAATGTTTATAATTACATATTTTATAATTA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		582		chr2	TogoVar
APOB_chr2_20996429_21049073	21000981	G G	GTAATTAT others(23): Show GTAATTATAAACATTTTAATTATAAAATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	30	c.74 others(39): Show c.748_*749insAATATTTTATAATTAAAATGTTTATAATTA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		447		chr2	TogoVar
APOB_chr2_20996429_21049073	21000992	C C	CATTTTAA others(23): Show CATTTTAATTATAAAATATGTAATTATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02559.hp1 others(2): Show HG02109.hp1 HG02280.hp1 HG02559.hp1 HG02965.hp2 HG03098.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0017 a0011c0011t0001g0046 a0011c0011t0001g0017 a0011c0011t0001g0046	5	283	0.0177	30	c.73 others(39): Show c.737_*738insATTTATAATTACATATTTTATAATTAAAAT	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		436		chr2	TogoVar
APOB_chr2_20996429_21049073	21001022	C C	CATTTTAA others(23): Show CATTTTAATTATAAAATATGTAATTATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19084.hp2 NA18964.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0088 a0002c0002t0001g0023 a0002c0002t0001g0088	2	149	0.0134	30	c.70 others(39): Show c.707_*708insATTTATAATTACATATTTTATAATTAAAAT	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		406		chr2	TogoVar
APOB_chr2_20996429_21049073	21001022	C C	CATTTTAA others(23): Show CATTTTAATTATAAAATATTTAATTATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(70): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02129.hp2 HG02145.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18959.hp2 NA18961.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA19007.hp2 NA19011.hp1 NA19066.hp2 NA19074.hp1 NA19085.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0008 a0021 a0032 a0056	a0001c0001 a0002c0002 a0002c0012 others(12): Show a0001c0001 a0002c0002 a0002c0012 a0002c0030 a0002c0051 a0002c0056 a0002c0057 a0002c0062 a0003c0005 a0003c0007 a0003c0008 a0008c0009 a0021c0038 a0032c0092 a0056c0073	a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 others(13): Show a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 a0002c0012t0003 a0002c0030t0001 a0002c0051t0001 a0002c0056t0001 a0002c0057t0001 a0002c0062t0001 a0003c0005t0001 a0003c0007t0001 a0003c0008t0001 a0008c0009t0001 a0021c0038t0001 a0032c0092t0003 a0056c0073t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0132 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0174 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0087 a0002c0002t0001g0091 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0012t0001g0024 a0002c0012t0001g0086 a0002c0012t0003g0021 a0002c0030t0001g0022 a0002c0051t0001g0080 a0002c0056t0001g0082 a0002c0057t0001g0079 a0002c0062t0001g0096 a0003c0005t0001g0003 a0003c0005t0001g0031 a0003c0005t0001g0112 a0003c0005t0001g0113 a0003c0005t0001g0114 a0003c0005t0001g0116 a0003c0007t0001g0105 a0003c0008t0001g0010 a0003c0008t0001g0033 a0003c0008t0001g0150 a0003c0008t0001g0151 a0003c0008t0001g0152 a0003c0008t0001g0153 a0008c0009t0001g0016 a0008c0009t0001g0039 a0008c0009t0001g0164 a0008c0009t0001g0182 a0008c0009t0001g0205 a0008c0009t0001g0208 a0008c0009t0001g0212 a0021c0038t0001g0040 a0032c0092t0003g0179 a0056c0073t0001g0115	73	220	0.3318	30	c.70 others(39): Show c.707_*708insATTTATAATTAAATATTTTATAATTAAAAT	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		406		chr2	TogoVar
APOB_chr2_20996429_21049073	21001075	T T	TTATAAAT others(23): Show TTATAAATATTTTAATTATAAAATATTTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0001 a0002c0054t0001	a0002c0054t0001g0078 a0002c0054t0001g0078	1	348	0.0029	30	c.65 others(39): Show c.654_*655insTTTAAATATTTTATAATTAAAATATTTATA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		353		chr2	TogoVar
APOB_chr2_20996429_21049073	21001204	T T	TTTTAATT others(23): Show TTTTAATTATAAAAATTTTAATTATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG01358.hp1 others(18): Show HG01081.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02056.hp2 HG02080.hp2 HG02148.hp1 HG02300.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 NA18965.hp1 NA18968.hp1 NA19009.hp1 NA19030.hp2 NA19054.hp1 NA19083.hp2	a0002 a0005 a0037 others(1): Show a0002 a0005 a0037 a0041	a0002c0024 a0002c0028 a0002c0044 others(3): Show a0002c0024 a0002c0028 a0002c0044 a0005c0004 a0037c0070 a0041c0105	a0002c0024t0001 a0002c0028t0001 a0002c0044t0001 others(3): Show a0002c0024t0001 a0002c0028t0001 a0002c0044t0001 a0005c0004t0001 a0037c0070t0001 a0041c0105t0001	a0002c0024t0001g0059 a0002c0024t0001g0070 a0002c0028t0001g0076 others(10): Show a0002c0024t0001g0059 a0002c0024t0001g0070 a0002c0028t0001g0076 a0002c0044t0001g0057 a0005c0004t0001g0002 a0005c0004t0001g0032 a0005c0004t0001g0124 a0005c0004t0001g0125 a0005c0004t0001g0126 a0005c0004t0001g0127 a0005c0004t0001g0128 a0037c0070t0001g0146 a0041c0105t0001g0219	21	317	0.0662	30	c.52 others(39): Show c.525_*526insTATTTTATAATTAAAATTTTTATAATTAAA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		224		chr2	TogoVar
APOF_chr12_56355568_56367857	56363211	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0003 a0002c0003t0002g0003	1	58	0.0172	30	c.-46 others(39): Show c.-467_-466insATATATATATATATATATATATATATTTTT	APOF	ENSG00000175336.10	transcript	ENST00000398189.4	protein_coding		355		chr12	TogoVar
APOF_chr12_56355568_56367857	56363237	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	259	0.0039	30	c.-49 others(39): Show c.-493_-492insGTGTGTATATATATATATATATATATATAT	APOF	ENSG00000175336.10	transcript	ENST00000398189.4	protein_coding		381		chr12	TogoVar
APOF_chr12_56355568_56367857	56363237	T T	TATATATA others(23): Show TATATATATATATATATATATATATATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0012 a0006c0008t0001g0012	1	259	0.0039	30	c.-49 others(39): Show c.-493_-492insTTTTATATATATATATATATATATATATAT	APOF	ENSG00000175336.10	transcript	ENST00000398189.4	protein_coding		381		chr12	TogoVar
APOH_chr17_66207033_66234415	66224691	G G	GGGAAAGG others(23): Show GGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	195	0.0051	30	c.339 others(45): Show c.339-947_339-918dupTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOL3_chr22_36135329_36165755	36145972	G G	GTCTCCCT others(23): Show GTCTCCCTGTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	220	0.0045	30	c.11- others(43): Show c.11-374_11-373insGAGAGAGAGAGAGAGAGAGAGACAGGGAGA	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOL3_chr22_36135329_36165755	36145972	G G	GTCTCCCT others(23): Show GTCTCCCTGTCTCTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03831.hp1 HG04184.hp2 others(1): Show HG00735.hp1 HG03831.hp1 HG04184.hp2 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0110 a0001c0002t0001g0156 others(1): Show a0001c0002t0001g0096 a0001c0002t0001g0110 a0001c0002t0001g0156 a0001c0002t0001g0162	4	223	0.0179	30	c.11- others(43): Show c.11-374_11-373insGAGAGAGAGAGAGAAAGAGAGACAGGGAGA	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	34	0.0294	30	c.-63 others(39): Show c.-637_-636insAAAAAAAAAAAAAAAAAAAAAAATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	34	0.0294	30	c.-63 others(39): Show c.-637_-636insAAAAAAAAAAAAAAAAAAATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 NA19087.hp1 HG01099.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0018 a0002c0002t0001g0001 a0002c0002t0001g0018	2	35	0.0571	30	c.-63 others(39): Show c.-637_-636insAAAAAAAAAAAAAAAAATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA20300.hp2 HG03471.hp1 NA20300.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0009	2	35	0.0571	30	c.-63 others(39): Show c.-637_-636insAAAAAAAAAAAAAAATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG02630.hp1 HG03041.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0009	2	35	0.0571	30	c.-63 others(39): Show c.-637_-636insAAAAAAAAAAAAATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 NA21309.hp1 HG01192.hp2 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0001 a0004c0006t0001 a0002c0002t0001 a0004c0006t0001	a0002c0002t0001g0025 a0004c0006t0001g0098 a0002c0002t0001g0025 a0004c0006t0001g0098	2	35	0.0571	30	c.-63 others(39): Show c.-637_-636insAAAAAAAAAAATATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	34	0.0294	30	c.-63 others(39): Show c.-637_-636insAAAAAAATATATATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOOL_chrX_84998877_85098315	85088169	C C	CATATATA others(23): Show CATATATATGTATAAATACATATTTATACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0040 a0001c0001t0099g0040	1	189	0.0053	30	c.49 others(39): Show c.497_*498insATGTATAAATACATATTTATACATATATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	498	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOO_chrX_23828353_23912938	23829569	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	164	0.0061	30	c.40 others(41): Show c.4072_*4073insATATATATATATATATATATATATATATAT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3783		chrX	TogoVar
APOO_chrX_23828353_23912938	23849583	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	65	0.0154	30	c.561 others(47): Show c.561+6718_561+6719insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	7/8			chrX	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	3	0.3333	30	c.184 others(49): Show c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
AQP11_chr11_77584953_77615356	77596537	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01891.hp1 HG02109.hp2 others(2): Show HG01515.hp2 HG01891.hp1 HG02109.hp2 HG02735.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0046 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0046 a0001c0001t0001g0120	5	193	0.0259	30	c.619 others(47): Show c.619+5952_619+5953insATATATATATATATATATATATATATAT AT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	87	0.0115	30	c.246 others(49): Show c.2461-1415_2461-1414insATATATATATATATATATATATATTT TTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
ARAP1_chr11_72680069_72757408	72722151	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAAAGACAGAGGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0030 a0003c0005t0001g0030	1	217	0.0046	30	c.509 others(47): Show c.509+4468_509+4469insCCCTCTGTCTTTCTCTCTCTCTCTCTCT CT	ARAP1	ENSG00000186635.16	transcript	ENST00000393609.8	protein_coding	3/34			chr11	TogoVar
ARFGAP3_chr22_42791502_42862273	42860728	T T	TGGAATGG others(23): Show TGGAATGGGCTTAGAATGTAGAAAGCTACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0282 a0002c0002t0001g0282	1	360	0.0028	30	c.-35 others(41): Show c.-3576_-3547dupTTGTAGCTTTCTACATTCTAAGCCCATTCC	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding		3456		chr22	TogoVar
ARFGEF1_chr8_67192658_67348781	67218207	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	96	0.0104	30	c.433 others(45): Show c.4339-70_4339-69insATATATATATATATATATATATATATTTTT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	30/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67339795	C C	CGGGGGGG others(23): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01515.hp2 HG02922.hp2 others(2): Show HG01243.hp2 HG01515.hp2 HG02922.hp2 HG02976.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0131 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0201	5	26	0.1923	30	c.124 others(47): Show c.124+3368_124+3369insCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFGEF2_chr20_48916711_49041693	48918076	T T	TACATACA others(23): Show TACATACATATACATATACATATACATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG02055.hp1 others(5): Show HG00673.hp1 HG01175.hp1 HG02055.hp1 HG02895.hp1 HG03041.hp1 HG03471.hp2 NA18988.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0009 a0001c0001t0002g0248 a0001c0001t0002g0250 others(5): Show a0001c0001t0002g0009 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0280 a0001c0001t0004g0328 a0001c0001t0004g0337	8	122	0.0656	30	c.-38 others(41): Show c.-3814_-3813insACATACATATACATATACATATACATATAC	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding		3634		chr20	TogoVar

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