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
AARSD1_chr17_42945526_42969454	42967357	TATAATAT others(31): Show TATAATATATAAAATATATATTATATAATATATAATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02280.hp1 HG02976.hp1 others(4): Show HG02004.hp1 HG02280.hp1 HG02976.hp1 HG03041.hp2 HG03490.hp1 HG03492.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0121 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0121	7	149	0.0470	-38	c.-29 others(49): Show c.-2955_-2918delTATATTATATATTATATAATATATATTTTATATA TTAT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2904		chr17	TogoVar
AATK_chr17_81112295_81171221	81156160	ATGTTACA others(31): Show ATGTTACAATGTATGTTACTGTTACAATGTATGTTATCA	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	366	0.0027	-38	c.55+ others(53): Show c.55+9740_55+9777delTGATAACATACATTGTAACAGTAACATACA TTGTAACA	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8772252	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00733.hp2 others(39): Show HG00408.hp1 HG00438.hp1 HG00733.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01515.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18963.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0003c0010 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0043 a0001c0001t0047 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0017 a0002c0006t0001 a0002c0006t0007 a0002c0006t0030 a0003c0010t0001 a0003c0010t0010 a0006c0014t0001	a0001c0001t0001g0051 a0001c0001t0001g0221 a0001c0001t0001g0233 others(39): Show a0001c0001t0001g0051 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0267 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0333 a0001c0001t0002g0347 a0001c0001t0003g0324 a0001c0001t0006g0298 a0001c0001t0006g0307 a0001c0001t0011g0326 a0001c0001t0012g0246 a0001c0001t0043g0049 a0001c0001t0047g0309 a0002c0002t0001g0009 a0002c0002t0001g0026 a0002c0002t0001g0266 a0002c0002t0001g0292 a0002c0002t0001g0329 a0002c0002t0002g0177 a0002c0002t0005g0245 a0002c0002t0006g0037 a0002c0002t0006g0161 a0002c0002t0006g0237 a0002c0002t0006g0332 a0002c0002t0006g0346 a0002c0002t0008g0162 a0002c0002t0010g0302 a0002c0002t0011g0308 a0002c0002t0012g0158 a0002c0002t0012g0254 a0002c0002t0017g0048 a0002c0002t0017g0181 a0002c0006t0001g0176 a0002c0006t0001g0344 a0002c0006t0007g0222 a0002c0006t0030g0008 a0003c0010t0001g0234 a0003c0010t0010g0338 a0003c0010t0010g0339 a0006c0014t0001g0035	42	57	0.7368	-38	c.817 others(53): Show c.817-513_817-476delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA13_chr7_48166458_48652497	48411011	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0065 a0065	a0065c0056 a0065c0056	a0065c0056t0002 a0065c0056t0002	a0065c0056t0002g0018 a0065c0056t0002g0018	1	176	0.0057	-38	c.122 others(57): Show c.12228+358_12228+395delCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862644	CGGGCCGG others(31): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp1 HG02630.hp1 HG03516.hp1	a0004 a0004	a0004c0029 a0004c0099 a0004c0029 a0004c0099	a0004c0029t0005 a0004c0099t0001 a0004c0029t0005 a0004c0099t0001	a0004c0029t0005g0208 a0004c0099t0001g0111 a0004c0029t0005g0208 a0004c0099t0001g0111	2	283	0.0071	-38	c.422 others(53): Show c.422-882_422-845delCCCGGCCCGGCCCGGCCCGGCCCGGCCCGG CCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862649	CGGGCCGG others(31): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0044 a0004c0044	a0004c0044t0007 a0004c0044t0007	a0004c0044t0007g0303 a0004c0044t0007g0303	1	241	0.0041	-38	c.422 others(53): Show c.422-887_422-850delCCCGGCCCGGCCCGGCCCGGCCCGGCCCGG CCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA8_chr17_68862289_68960392	68944323	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01168.hp2 HG01496.hp1 others(40): Show HG00544.hp1 HG01168.hp2 HG01496.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG02165.hp2 HG02523.hp1 HG03017.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18987.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19060.hp2 NA19063.hp1 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0024 a0025 a0028	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0035 a0002c0034 a0003c0008 a0004c0007 a0004c0033 a0006c0014 a0006c0038 a0024c0016 a0025c0036 a0028c0037	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0035t0001 a0002c0034t0001 a0003c0008t0001 a0003c0008t0005 a0004c0007t0001 a0004c0033t0001 a0006c0014t0001 a0006c0038t0001 a0024c0016t0001 a0025c0036t0001 a0028c0037t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(40): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0002t0001g0077 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0076 a0001c0003t0001g0086 a0001c0003t0001g0088 a0001c0003t0001g0102 a0001c0003t0002g0087 a0001c0003t0002g0101 a0001c0003t0003g0098 a0001c0003t0003g0100 a0001c0035t0001g0075 a0002c0034t0001g0007 a0003c0008t0001g0151 a0003c0008t0005g0152 a0004c0007t0001g0058 a0004c0033t0001g0061 a0006c0014t0001g0085 a0006c0038t0001g0099 a0024c0016t0001g0063 a0025c0036t0001g0157 a0028c0037t0001g0158	43	270	0.1593	-38	c.-5- others(53): Show c.-5-2322_-5-2285delGTATATATATATATATATATATATATATAT ATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCB5_chr7_20610667_20762008	20681036	CTTTCTTT others(31): Show CTTTCTTTCTTTCTCTCTCTCTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG01169.hp2 others(16): Show HG00323.hp2 HG00673.hp1 HG01169.hp2 HG01258.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02602.hp2 NA18940.hp2 NA18948.hp1 NA18970.hp2 NA18975.hp2 NA18980.hp1 NA18986.hp2 NA19006.hp1 NA19060.hp2 NA19079.hp1 NA19085.hp2	a0002 a0007 a0010 others(1): Show a0002 a0007 a0010 a0011	a0002c0003 a0007c0032 a0010c0017 others(2): Show a0002c0003 a0007c0032 a0010c0017 a0010c0025 a0011c0013	a0002c0003t0003 a0007c0032t0003 a0010c0017t0007 others(2): Show a0002c0003t0003 a0007c0032t0003 a0010c0017t0007 a0010c0025t0003 a0011c0013t0001	a0002c0003t0003g0026 a0002c0003t0003g0028 a0002c0003t0003g0030 others(16): Show a0002c0003t0003g0026 a0002c0003t0003g0028 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0038 a0002c0003t0003g0040 a0002c0003t0003g0042 a0002c0003t0003g0043 a0002c0003t0003g0046 a0002c0003t0003g0049 a0007c0032t0003g0017 a0007c0032t0003g0045 a0010c0017t0007g0054 a0010c0025t0003g0041 a0011c0013t0001g0102	19	323	0.0588	-38	c.170 others(55): Show c.1708-467_1708-430delTTCTTTCTTTCTCTCTCTCTCTCTTTCT TTCTTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC3_chr17_50629881_50697253	50674020	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	334	0.0030	-38	c.259 others(55): Show c.2599+366_2599+403delCTCTCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674024	CTCTCTCT others(31): Show CTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	335	0.0030	-38	c.259 others(55): Show c.2599+370_2599+407delCTCTCTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95029193	TATATATA others(31): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0002 a0003c0029t0002	a0003c0029t0002g0204 a0003c0029t0002g0204	1	241	0.0041	-38	c.387 others(57): Show c.3870+5374_3870+5411delCTCTCTCTCTCTCTCTCTATATATAT ATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029197	TATATATA others(31): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0158 a0005c0019t0002g0158	1	237	0.0042	-38	c.387 others(57): Show c.3870+5370_3870+5407delCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029199	TATATATA others(31): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18966.hp2 NA18977.hp2 HG02451.hp2 NA18966.hp2 NA18977.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0001c0013 a0003c0016 a0001c0007 a0001c0013 a0003c0016	a0001c0007t0002 a0001c0013t0004 a0003c0016t0008 a0001c0007t0002 a0001c0013t0004 a0003c0016t0008	a0001c0007t0002g0103 a0001c0013t0004g0012 a0003c0016t0008g0245 a0001c0007t0002g0103 a0001c0013t0004g0012 a0003c0016t0008g0245	3	233	0.0129	-38	c.387 others(57): Show c.3870+5368_3870+5405delCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029201	TATATATA others(31): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG03239.hp2 others(3): Show HG01243.hp1 HG01884.hp2 HG03239.hp2 HG04184.hp2 NA18948.hp1 NA18971.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0007 a0001c0010 a0001c0013 others(3): Show a0001c0007 a0001c0010 a0001c0013 a0002c0004 a0005c0018 a0006c0027	a0001c0007t0002 a0001c0010t0024 a0001c0013t0004 others(3): Show a0001c0007t0002 a0001c0010t0024 a0001c0013t0004 a0002c0004t0002 a0005c0018t0002 a0006c0027t0002	a0001c0007t0002g0228 a0001c0010t0024g0023 a0001c0013t0004g0042 others(3): Show a0001c0007t0002g0228 a0001c0010t0024g0023 a0001c0013t0004g0042 a0002c0004t0002g0200 a0005c0018t0002g0234 a0006c0027t0002g0137	6	228	0.0263	-38	c.387 others(57): Show c.3870+5366_3870+5403delCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029203	TATATATA others(31): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03453.hp2 NA18906.hp1 others(3): Show HG02257.hp2 HG03453.hp2 NA18906.hp1 NA19005.hp2 NA19057.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0001c0025 others(2): Show a0001c0003 a0001c0009 a0001c0025 a0002c0004 a0002c0005	a0001c0003t0002 a0001c0009t0002 a0001c0025t0002 others(2): Show a0001c0003t0002 a0001c0009t0002 a0001c0025t0002 a0002c0004t0002 a0002c0005t0002	a0001c0003t0002g0107 a0001c0009t0002g0020 a0001c0025t0002g0075 others(3): Show a0001c0003t0002g0107 a0001c0009t0002g0020 a0001c0025t0002g0075 a0002c0004t0002g0050 a0002c0005t0002g0099 a0002c0005t0002g0146	6	234	0.0256	-38	c.387 others(57): Show c.3870+5364_3870+5401delCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029205	TATATATA others(31): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18950.hp2 NA18951.hp1 others(1): Show HG03710.hp2 NA18950.hp2 NA18951.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0017 others(1): Show a0001c0001 a0001c0007 a0001c0017 a0002c0005	a0001c0001t0008 a0001c0007t0002 a0001c0017t0002 others(1): Show a0001c0001t0008 a0001c0007t0002 a0001c0017t0002 a0002c0005t0002	a0001c0001t0008g0247 a0001c0007t0002g0179 a0001c0017t0002g0115 others(1): Show a0001c0001t0008g0247 a0001c0007t0002g0179 a0001c0017t0002g0115 a0002c0005t0002g0202	4	239	0.0167	-38	c.387 others(57): Show c.3870+5362_3870+5399delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029207	TATATATA others(31): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	238	0.0042	-38	c.387 others(57): Show c.3870+5360_3870+5397delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029211	TATAGAGA others(31): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19060.hp2 NA18950.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0004 a0001c0011 a0002c0004	a0001c0011t0002 a0002c0004t0008 a0001c0011t0002 a0002c0004t0008	a0001c0011t0002g0095 a0002c0004t0008g0241 a0001c0011t0002g0095 a0002c0004t0008g0241	2	235	0.0085	-38	c.387 others(57): Show c.3870+5356_3870+5393delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABHD12_chr20_25295214_25395835	25387182	CATTCTCA others(31): Show CATTCTCATTAAAGTCAGGAATGAAACAAGTTACTCAGT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	314	0.0032	-38	c.191 others(55): Show c.191+3293_191+3330delACTGAGTAACTTGTTTCATTCCTGACTT TAATGAGAAT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	1/12			chr20	TogoVar
ABI2_chr2_203323394_203437169	203338926	GTGTATAT others(31): Show GTGTATATGTATATATATATATATATATATATATATAAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03453.hp1 HG03688.hp2 others(6): Show HG00735.hp2 HG03453.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp2 NA18977.hp1 NA19030.hp1 NA19064.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0018	a0001c0001t0001g0186 a0001c0001t0001g0218 a0001c0001t0001g0259 others(6): Show a0001c0001t0001g0186 a0001c0001t0001g0218 a0001c0001t0001g0259 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0298 a0001c0001t0003g0317 a0001c0001t0014g0281 a0001c0001t0018g0267	9	209	0.0431	-38	c.117 others(57): Show c.117+10297_117+10334delGTATATGTATATATATATATATATAT ATATATATAAAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338928	GTATATGT others(31): Show GTATATGTATATATATATATATATATATATATATAAATA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01433.hp1 HG01192.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0003 a0001c0001t0030	a0001c0001t0003g0253 a0001c0001t0030g0240 a0001c0001t0003g0253 a0001c0001t0030g0240	2	306	0.0065	-38	c.117 others(57): Show c.117+10303_117+10340delGTATATATATATATATATATATATAT ATAAATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100830110	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01256.hp1 HG01258.hp2 others(28): Show HG00642.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01993.hp1 HG02109.hp1 HG02280.hp2 HG02615.hp1 HG02698.hp2 HG02965.hp2 HG03540.hp1 HG04115.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18952.hp2 NA18957.hp1 NA18966.hp1 NA18977.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19062.hp2 NA19063.hp2 NA19082.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0018 a0021	a0001c0001 a0001c0004 a0001c0009 others(7): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002 a0002c0008 a0002c0045 a0003c0003 a0006c0011 a0018c0038 a0021c0055	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0004t0002 a0001c0004t0007 a0001c0004t0009 a0001c0009t0001 a0001c0009t0019 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0008t0032 a0002c0045t0003 a0003c0003t0003 a0006c0011t0007 a0006c0011t0012 a0018c0038t0012 a0021c0055t0005	a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0080 others(28): Show a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0164 a0001c0001t0003g0112 a0001c0001t0008g0198 a0001c0001t0008g0201 a0001c0001t0008g0208 a0001c0001t0008g0210 a0001c0001t0009g0219 a0001c0001t0015g0234 a0001c0004t0002g0022 a0001c0004t0002g0027 a0001c0004t0007g0008 a0001c0004t0009g0218 a0001c0009t0001g0086 a0001c0009t0019g0054 a0002c0002t0002g0069 a0002c0002t0002g0087 a0002c0002t0002g0109 a0002c0002t0003g0079 a0002c0002t0005g0110 a0002c0002t0008g0197 a0002c0008t0032g0060 a0002c0045t0003g0145 a0003c0003t0003g0062 a0006c0011t0007g0157 a0006c0011t0012g0139 a0018c0038t0012g0159 a0021c0055t0005g0036	31	117	0.2650	-38	c.245 others(55): Show c.2458+430_2459-447delATATATATATATATATATATATATATAT ATATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67			chr3	TogoVar
ABLIM1_chr10_114426112_114663275	114583448	CACACACA others(31): Show CACACACACACACACACACACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0133 a0001c0002t0020g0133	1	219	0.0046	-38	c.380 others(55): Show c.380-7887_380-7850delATATATATATATATATATGTGTGTGTGT GTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583450	CACACACA others(31): Show CACACACACACACACACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18970.hp2 HG00639.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0028 a0001c0001t0013 a0001c0001t0028	a0001c0001t0013g0033 a0001c0001t0028g0247 a0001c0001t0013g0033 a0001c0001t0028g0247	2	227	0.0088	-38	c.380 others(55): Show c.380-7889_380-7852delATATATATATATATATATATGTGTGTGT GTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583452	CACACACA others(31): Show CACACACACACACACACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	209	0.0048	-38	c.380 others(55): Show c.380-7891_380-7854delATATATATATATATATATATATGTGTGT GTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583454	CACACACA others(31): Show CACACACACACACACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA19060.hp2 HG00323.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0036 a0001c0003t0001g0199 a0001c0001t0005g0036 a0001c0003t0001g0199	2	215	0.0093	-38	c.380 others(55): Show c.380-7893_380-7856delATATATATATATATATATATATATGTGT GTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583458	CACACACA others(31): Show CACACACACACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0183 a0001c0003t0046g0183	1	201	0.0050	-38	c.380 others(55): Show c.380-7897_380-7860delATATATATATATATATATATATATATAT GTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8076891	GGGGGGGT others(31): Show GGGGGGGTCTGTGAACCCAGAGAGGGTGGGCTACAGGGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0201 a0001c0002t0003g0201	1	313	0.0032	-38	c.675 others(53): Show c.675+699_675+736delACCCTGTAGCCCACCCTCTCTGGGTTCACA GACCCCCC	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	6/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8076906	CCCAGAGA others(31): Show CCCAGAGAGGGTGGGCTACAGGGTGGGGGGGTCTGTGAA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	320	0.0031	-38	c.675 others(53): Show c.675+684_675+721delTTCACAGACCCCCCCACCCTGTAGCCCACC CTCTCTGG	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	6/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149225966	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp1 HG03098.hp1 HG02630.hp1 HG02965.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0073 a0001c0001t0004g0088 a0001c0001t0009g0075 a0001c0001t0004g0073 a0001c0001t0004g0088 a0001c0001t0009g0075	3	236	0.0127	-38	c.758 others(55): Show c.758-4681_758-4644delGTGTGTGTGTGTGTGTATATATATATAT ATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1096774	TGGAGAGA others(31): Show TGGAGAGAGCTGGGGGAAGTGGGGGAACCTGCCCCGGGA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0297 a0001c0001t0089g0297	1	336	0.0030	-38	c.345 others(55): Show c.345+3825_345+3862delTCCCGGGGCAGGTTCCCCCACTTCCCCC AGCTCTCTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	3/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34177567	CCTACAGA others(31): Show CCTACAGAACATTCCAGTCCAGTTTCCACCTATCTGAGG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0012 a0004c0006t0012	a0004c0006t0012g0244 a0004c0006t0012g0244	1	244	0.0041	-38	c.124 others(57): Show c.1245-4298_1245-4261delCCTCAGATAGGTGGAAACTGGACTGG AATGTTCTGTAG	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	3/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107469904	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0132 a0003c0006t0005g0132	1	186	0.0054	-38	c.113 others(59): Show c.1136-50563_1136-50526delCTCTCTCTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA2_chr18_49777164_49818533	49817208	GCTTTAGA others(31): Show GCTTTAGAAGTTTCAGTAATGGAAACTGGGGAAAGCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0317 a0001c0001t0003g0317	1	432	0.0023	-38	c.-37 others(49): Show c.-3762_-3725delTCAGCTTTCCCCAGTTTCCATTACTGAAACTTCT AAAG	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding		3676		chr18	TogoVar
ACACB_chr12_109111587_109273226	109273147	ACATTCCC others(31): Show ACATTCCCACCAACAATGCACAAACTTCCCTAATTTCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0262 a0003c0005t0002g0262	1	306	0.0033	-38	c.67 others(49): Show c.6786_*6823delCATTCCCACCAACAATGCACAAACTTCCCTAATT TCTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding		4922		chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288242	TGTCTCTG others(31): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02602.hp2 HG02896.hp1 HG02897.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0042 a0001c0002t0001g0088 others(1): Show a0001c0002t0001g0026 a0001c0002t0001g0042 a0001c0002t0001g0088 a0001c0002t0001g0091	4	294	0.0136	-38	c.52 others(49): Show c.5284_*5321delTCGGGGGACGGAGCAGAGACACGGGACGGAGCAG AGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4148		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288511	TCCCGTGT others(31): Show TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA19079.hp1 HG02258.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0006 a0001c0003t0002g0119 a0001c0001t0001g0006 a0001c0003t0002g0119	2	260	0.0077	-38	c.50 others(49): Show c.5015_*5052delGGACGGAGCAGAGACACGGGACGGAGCAGGGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3879		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288607	CCCCGTGT others(31): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0209 a0003c0004t0001g0209	1	272	0.0037	-38	c.49 others(49): Show c.4919_*4956delACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3783		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288668	TGTCTCTG others(31): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03942.hp1 HG03579.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0210 a0001c0001t0001g0035 a0001c0001t0001g0210	2	289	0.0069	-38	c.48 others(49): Show c.4858_*4895delTCGGGGGACGGAGCAGGGACACGGGACGGAGCAG AGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3722		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288793	CCCCGTGT others(31): Show CCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 NA19087.hp1 HG04199.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0014g0214 a0001c0001t0001g0003 a0001c0001t0014g0214	2	262	0.0076	-38	c.47 others(49): Show c.4733_*4770delACGGAGCAGAGACTCGGGGGACGGAACAGGGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3597		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289257	TCCGTCCC others(31): Show TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 NA18964.hp1 HG01361.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0120 a0001c0001t0001g0037 a0001c0001t0002g0120	2	226	0.0088	-38	c.42 others(49): Show c.4269_*4306delGGCAGGGACACGGGACGGAGCAGGGACACGGGGG ACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3133		chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599165	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp1 HG02965.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0162 a0002c0002t0003g0001 a0002c0002t0003g0162	2	380	0.0053	-38	c.765 others(52): Show c.765-129_765-92delAAAAAAAAAAAAAAAATATATATATATATAT ATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599167	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0082 a0002c0002t0003g0082	1	377	0.0027	-38	c.765 others(52): Show c.765-127_765-90delAAAAAAAAAAAAAATATATATATATATATAT ATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599169	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA21309.hp2 HG03041.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0022 a0002c0002 a0002c0022	a0002c0002t0004 a0002c0022t0004 a0002c0002t0004 a0002c0022t0004	a0002c0002t0004g0334 a0002c0022t0004g0161 a0002c0002t0004g0334 a0002c0022t0004g0161	2	385	0.0052	-38	c.765 others(52): Show c.765-125_765-88delAAAAAAAAAAAATATATATATATATATATAT ATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOX2_chr3_58500136_58542190	58510685	TATATATA others(31): Show TATATATATATATATATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01928.hp1 HG02258.hp2 others(9): Show HG01884.hp1 HG01928.hp1 HG02258.hp2 HG02717.hp1 HG02723.hp1 HG03130.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp2 HG03927.hp1 NA18906.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0154 a0001c0001t0001g0172 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0002g0246 a0001c0003t0002g0241	12	350	0.0343	-38	c.185 others(57): Show c.1851-1698_1851-1661delGTGTGTGTGTGTGTATATATATATAT ATATATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACVR1_chr2_157731446_157881330	157826743	AAGGAAAG others(31): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	172	0.0058	-38	c.-18 others(57): Show c.-182-8222_-182-8185delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147931332	TTTATAGC others(31): Show TTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	336	0.0030	-38	c.40 others(49): Show c.4059_*4096delTTATAGCAGCATGATTTATAGTCCTTTGGGTATA TACC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		511		chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02523.hp1 HG03654.hp1 others(22): Show HG02027.hp1 HG02523.hp1 HG03654.hp1 HG04228.hp1 NA18906.hp2 NA18942.hp2 NA18952.hp1 NA18955.hp2 NA18965.hp1 NA18967.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp2 NA18993.hp1 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19063.hp2 NA19072.hp1 NA19081.hp2 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0002t0021 a0001c0002t0078 others(3): Show a0001c0002t0004 a0001c0002t0021 a0001c0002t0078 a0001c0002t0079 a0001c0002t0089 a0001c0003t0164	a0001c0002t0004g0001 a0001c0002t0004g0044 a0001c0002t0004g0171 others(6): Show a0001c0002t0004g0001 a0001c0002t0004g0044 a0001c0002t0004g0171 a0001c0002t0004g0177 a0001c0002t0021g0001 a0001c0002t0078g0001 a0001c0002t0079g0169 a0001c0002t0089g0001 a0001c0003t0164g0124	25	160	0.1563	-38	c.94 others(49): Show c.9435_*9472delCACACACACACACACACACACACACACACACACA CACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9435	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACYP2_chr2_53966113_54310300	54201598	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp2 HG03225.hp1 others(2): Show HG01109.hp2 HG02451.hp2 HG03225.hp1 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0003 a0001c0001t0001 a0001c0001t0012 a0001c0002t0003	a0001c0001t0001g0105 a0001c0001t0001g0159 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0159 a0001c0001t0001g0258 a0001c0001t0012g0265 a0001c0002t0003g0092	5	270	0.0185	-38	c.404 others(57): Show c.404+62876_404+62913delGTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17222472	GTGTGTAT others(31): Show GTGTGTATATATATATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0341 a0001c0002t0050g0341	1	104	0.0096	-38	c.-32 others(49): Show c.-3201_-3164delTATATATATATATATATATATATATATATATATA CACA	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding		3038		chr22	TogoVar

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