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
ASCL4_chr12_107769704_107781644	107779932	G G	GTTCAAGA others(12): Show GTTCAAGACCAGCCTGTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	460	0.0022	19	c.41 others(30): Show c.4195_*4196insTTCAAGACCAGCCTGTGAA	ASCL4	ENSG00000187855.6	transcript	ENST00000342331.5	protein_coding		3289		chr12	TogoVar
ASF1A_chr6_118889152_118914171	118893922	T T	TCCCGCCG others(12): Show TCCCGCCGCAGCCACGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG01069.hp1 others(52): Show HG00408.hp1 HG00609.hp2 HG01069.hp1 HG01071.hp1 HG01192.hp2 HG01243.hp2 HG01884.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19067.hp2 NA19072.hp1 NA19082.hp2 NA19085.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016	a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0019 others(8): Show a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0012g0034 a0001c0001t0014g0003 a0001c0001t0016g0036	55	398	0.1382	19	c.-49 others(28): Show c.-492_-491insCCCGCCGCAGCCACGCCTC	ASF1A	ENSG00000111875.8	transcript	ENST00000229595.6	protein_coding		229		chr6	TogoVar
ASH2L_chr8_38100529_38145080	38102027	T T	TGAGGCAG others(12): Show TGAGGCAGGAGAATCGCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03130.hp2 HG02965.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0199 a0001c0001t0001g0200	2	328	0.0061	19	c.-35 others(30): Show c.-3524_-3523insGAGGCAGGAGAATCGCTTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		3501		chr8	TogoVar
ASIC4_chr2_219509482_219543772	219523017	T T	TGTGTGTG others(12): Show TGTGTGTGCGGGAGAGGGCG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0151 a0002c0006t0001g0151	1	370	0.0027	19	c.582 others(36): Show c.582+7713_582+7731dupTGTGTGCGGGAGAGGGCGG	ASIC4	ENSG00000072182.14	transcript	ENST00000358078.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASMTL_chrX_1398139_1457909	1443140	C C	CACCGCCG others(12): Show CACCGCCGTCGTGGACACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(65): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG03239.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA18997.hp1 NA18998.hp1 NA19007.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19081.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0009 a0013	a0001c0001 a0001c0008 a0002c0003 others(11): Show a0001c0001 a0001c0008 a0002c0003 a0002c0005 a0002c0011 a0002c0030 a0003c0002 a0003c0006 a0003c0018 a0004c0007 a0004c0009 a0006c0017 a0009c0020 a0013c0021	a0001c0001t0001 a0001c0008t0001 a0002c0003t0002 others(11): Show a0001c0001t0001 a0001c0008t0001 a0002c0003t0002 a0002c0005t0001 a0002c0011t0001 a0002c0030t0001 a0003c0002t0001 a0003c0006t0001 a0003c0018t0001 a0004c0007t0001 a0004c0009t0001 a0006c0017t0001 a0009c0020t0001 a0013c0021t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(64): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0140 a0001c0008t0001g0045 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0062 a0002c0003t0002g0090 a0002c0003t0002g0094 a0002c0005t0001g0001 a0002c0005t0001g0031 a0002c0005t0001g0068 a0002c0005t0001g0081 a0002c0005t0001g0091 a0002c0011t0001g0103 a0002c0030t0001g0139 a0003c0002t0001g0012 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0064 a0003c0002t0001g0065 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0105 a0003c0002t0001g0111 a0003c0006t0001g0069 a0003c0018t0001g0048 a0004c0007t0001g0026 a0004c0007t0001g0059 a0004c0007t0001g0060 a0004c0007t0001g0088 a0004c0007t0001g0142 a0004c0009t0001g0030 a0004c0009t0001g0085 a0004c0009t0001g0128 a0006c0017t0001g0182 a0006c0017t0001g0183 a0009c0020t0001g0141 a0013c0021t0001g0055	68	78	0.8718	19	c.94- others(32): Show c.94-824_94-823insATGTGTCCACGACGGCGGT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1443594	T T	TTGGACAG others(12): Show TTGGACAGACACCGCCATCG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0102 a0003c0006t0001g0102	1	116	0.0086	19	c.94- others(34): Show c.94-1296_94-1278dupCGATGGCGGTGTCTGTCCA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGGTGTGT others(12): Show GGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	4	0.2500	19	c.176 others(38): Show c.1764+8371_1764+8372insACACACACACACACACACC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61704194	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG02630.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0186 a0001c0001t0001g0018 a0001c0001t0001g0186	2	14	0.1429	19	c.103 others(38): Show c.103+10056_103+10074dupTTTTTTTTTTTTTTTTTTT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24			chr8	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02976.hp1 HG03041.hp1 others(3): Show HG01081.hp2 HG02976.hp1 HG03041.hp1 NA18947.hp1 NA18960.hp2 NA18978.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0011c0013	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0011c0013t0004	a0001c0001t0001g0010 a0001c0001t0001g0131 a0001c0003t0001g0172 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0131 a0001c0003t0001g0172 a0002c0002t0001g0031 a0011c0013t0004g0047 a0011c0013t0004g0048	6	33	0.1818	19	c.-18 others(30): Show c.-1897_-1896insTTTTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASRGL1_chr11_62332448_62398412	62362561	T T	TATAAAAT others(12): Show TATAAAATATATATTATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01978.hp2 others(11): Show HG00438.hp2 HG00621.hp2 HG01978.hp2 HG02165.hp2 HG02523.hp2 NA18747.hp2 NA18946.hp2 NA18966.hp1 NA18969.hp2 NA18977.hp2 NA18992.hp1 NA19065.hp2 NA19078.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0030 a0001c0001t0002 a0001c0001t0014 a0001c0001t0030	a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0268 others(11): Show a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0014g0266 a0001c0001t0014g0286 a0001c0001t0030g0239	14	327	0.0428	19	c.491 others(36): Show c.491+5417_491+5418insATAAAATATATATTATATA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6			chr11	TogoVar
ASS1_chr9_130439961_130506274	130483801	T T	TTTCCTCC others(12): Show TTTCCTCCTCCCTCTCTCCC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	372	0.0027	19	c.838 others(36): Show c.838+3362_838+3363insCTCTCTCCCTTCCTCCTCC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	176885969	G G	GAATAGAC others(12): Show GAATAGACCCAAAACTGTGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0053 a0001c0001t0018g0053	1	110	0.0091	19	c.307 others(38): Show c.3075-1498_3075-1480dupGCACAGTTTTGGGTCTATT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	18/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116632205	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	31	0.0323	19	c.307 others(40): Show c.3073-11763_3073-11762insCTTTCTTTCTTTCTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803523	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0102 a0001c0010t0001g0102	1	91	0.0110	19	c.239 others(38): Show c.2396+2108_2396+2109insTATATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0005 a0001c0013t0009 a0001c0001t0005 a0001c0013t0009	a0001c0001t0005g0096 a0001c0013t0009g0072 a0001c0001t0005g0096 a0001c0013t0009g0072	2	13	0.1538	19	c.188 others(40): Show c.1889+41210_1889+41228dupAAAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116948785	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02698.hp1 others(2): Show HG02109.hp2 HG02559.hp2 HG02698.hp1 HG04199.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0006c0020	a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 a0001c0007t0001 a0006c0020t0001	a0001c0001t0002g0070 a0001c0002t0003g0041 a0001c0003t0003g0030 others(2): Show a0001c0001t0002g0070 a0001c0002t0003g0041 a0001c0003t0003g0030 a0001c0007t0001g0010 a0006c0020t0001g0039	5	10	0.5000	19	c.188 others(40): Show c.1889+26422_1889+26423insAAAAAACAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32378003	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0196	1	276	0.0036	19	c.252 others(36): Show c.252+8880_252+8881insGTGTGTGTGTGTGTGTGTG	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12			chr20	TogoVar
ASXL1_chr20_32353331_32444319	32379161	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG00738.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	23	0.0870	19	c.252 others(38): Show c.252+10061_252+10079dupTTTTTTTTTTTTTTTTTTT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL3_chr18_33573219_33756195	33590111	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01192.hp1 others(12): Show HG00621.hp2 HG00735.hp2 HG01192.hp1 HG02257.hp2 HG02572.hp1 HG02630.hp1 HG02886.hp1 HG02886.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp2 HG04184.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0007c0009	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(8): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0029 a0001c0005t0002 a0002c0002t0046 a0003c0003t0009 a0003c0003t0016 a0007c0009t0002	a0001c0001t0005g0024 a0001c0001t0006g0157 a0001c0001t0008g0018 others(12): Show a0001c0001t0005g0024 a0001c0001t0006g0157 a0001c0001t0008g0018 a0001c0001t0008g0023 a0001c0001t0010g0153 a0001c0001t0018g0028 a0001c0001t0029g0164 a0001c0005t0002g0002 a0001c0005t0002g0162 a0001c0005t0002g0165 a0002c0002t0046g0169 a0003c0003t0009g0011 a0003c0003t0016g0019 a0007c0009t0002g0158 a0007c0009t0002g0159	15	158	0.0949	19	c.54+ others(36): Show c.54+11427_54+11445dupTTTTTTTTTTTTTTTTTTT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33676222	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01261.hp1 others(12): Show HG00438.hp1 HG00642.hp2 HG01261.hp1 HG01358.hp1 HG02148.hp2 HG02300.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03041.hp2 HG03130.hp2 NA18948.hp1 NA18971.hp2 NA18975.hp2 NA18998.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0018 a0002c0002 others(1): Show a0001c0001 a0001c0018 a0002c0002 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0018t0001 a0002c0002t0004 a0014c0021t0001	a0001c0001t0001g0050 a0001c0001t0001g0083 a0001c0001t0001g0087 others(12): Show a0001c0001t0001g0050 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0002g0007 a0001c0001t0002g0145 a0001c0001t0006g0085 a0001c0018t0001g0069 a0002c0002t0004g0193 a0014c0021t0001g0071	15	100	0.1500	19	c.715 others(36): Show c.715+4363_715+4381dupAAAAAAAAAAAAAAAAAAA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD1_chr10_87746512_87823226	87819263	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	67	0.0149	19	c.-11 others(30): Show c.-1129_-1111dupTTTTTTTTTTTTTTTTTTT	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding		1038		chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23878010	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	174	0.0057	19	c.902 others(36): Show c.902-2107_902-2106insTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	190	0.0053	19	c.902 others(36): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02074.hp2 HG03130.hp2 others(1): Show HG01361.hp1 HG02074.hp2 HG03130.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0002t0003 a0001c0002t0010 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0010 a0001c0005t0001	a0001c0001t0002g0039 a0001c0002t0003g0005 a0001c0002t0010g0125 others(1): Show a0001c0001t0002g0039 a0001c0002t0003g0005 a0001c0002t0010g0125 a0001c0005t0001g0161	4	50	0.0800	19	c.320 others(36): Show c.320+3419_320+3437dupTTTTTTTTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD3C_chr1_1444689_1475163	1469099	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0173 a0002c0002t0173	a0002c0002t0173g0301 a0002c0002t0173g0301	1	48	0.0208	19	c.58 others(28): Show c.588_*606dupAAAAAAAAAAAAAAAAAAA	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	12/12	607	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1472097	C C	CGGCGGGG others(12): Show CGGCGGGGCGGGGCGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0122 a0002c0002t0122	a0002c0002t0122g0105 a0002c0002t0122g0105	1	209	0.0048	19	c.35 others(30): Show c.3567_*3568insGGCGGGGCGGGGCGGGGCG	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding		1935		chr1	TogoVar
ATCAY_chr19_3875685_3933082	3914235	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	47	0.0213	19	c.965 others(34): Show c.965+394_965+395insAAAAAAAAAAAAAAAAAAA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATF2_chr2_175067259_175173203	175163918	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	25	0.0400	19	c.-14 others(38): Show c.-143+4131_-143+4132insTTTTTTTTTTTTTTTTTTT	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	1/13			chr2	TogoVar
ATF7IP_chr12_14360682_14507930	14364123	C C	CACCACGA others(12): Show CACCACGACTAGCTAATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0297 a0002c0002t0001g0297	1	344	0.0029	19	c.-17 others(30): Show c.-1712_-1711insACCACGACTAGCTAATTTT	ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding		1558		chr12	TogoVar
ATF7_chr12_53507054_53631382	53535328	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01261.hp1 others(7): Show HG00423.hp2 HG00621.hp2 HG01261.hp1 HG02129.hp1 HG03942.hp2 HG04228.hp1 NA18944.hp2 NA18953.hp1 NA18960.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0024 a0001c0001t0002g0113 a0001c0001t0002g0117 others(7): Show a0001c0001t0002g0024 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0140 a0001c0001t0002g0153 a0001c0001t0007g0131 a0001c0001t0007g0137	10	259	0.0386	19	c.403 others(34): Show c.403-670_403-669insTTTTTTTTTTTTTTTTTTT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	5/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587844	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp2 HG02015.hp1 others(5): Show HG01255.hp2 HG01358.hp2 HG02015.hp1 HG02647.hp2 HG03017.hp1 NA18953.hp2 NA19080.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0265 others(5): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0016g0308	8	248	0.0323	19	c.48+ others(36): Show c.48+13108_48+13109insTATATATATATATATATAT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53599053	A A	ACAGTGTC others(12): Show ACAGTGTCTCGCTCTGTTGC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0169 a0001c0001t0022g0169	1	328	0.0030	19	c.48+ others(34): Show c.48+1881_48+1899dupGCAACAGAGCGAGACACTG	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53628150	A A	AAATAAAT others(12): Show AAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	244	0.0041	19	c.-18 others(30): Show c.-1894_-1893insATTTATTTATTTATTTATT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding		1769		chr12	TogoVar
ATG10_chr5_81967023_82261133	81993310	C C	CTTTCTTT others(12): Show CTTTCTTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	210	0.0048	19	c.108 others(36): Show c.108+5632_108+5633insTTTCTTTCCTTCCTTCCTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG10_chr5_81967023_82261133	81993360	C C	CTTCTTTC others(12): Show CTTCTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0094 a0002c0002t0004g0094	1	48	0.0208	19	c.108 others(36): Show c.108+5688_108+5689insCTTTTCTTTTCTTTTCTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82118400	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18972.hp1 NA18986.hp2 others(1): Show NA18940.hp1 NA18972.hp1 NA18986.hp2 NA19083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0199 others(1): Show a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0199 a0003c0003t0001g0200	4	189	0.0212	19	c.217 others(38): Show c.217-45994_217-45993insATATATATATATATTATAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82121941	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03579.hp1 HG02717.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0139 a0001c0001t0012g0142 a0001c0001t0001g0139 a0001c0001t0012g0142	2	177	0.0113	19	c.217 others(38): Show c.217-42457_217-42439dupTTTTTTTTTTTTTTTTTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82161696	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0048 a0003c0003t0003g0048	1	28	0.0357	19	c.217 others(36): Show c.217-2703_217-2702insCACACACACACACACACAC	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7			chr5	TogoVar
ATG10_chr5_81967023_82261133	82258953	C C	CACACACA others(12): Show CACACACAATATTTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0120 a0002c0002t0032g0120	1	224	0.0045	19	c.48 others(30): Show c.4890_*4891insACACACAATATTTATATAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding		2821		chr5	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0085	1	190	0.0053	19	c.222 others(36): Show c.222-5493_222-5492insATATATATATATATATATT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308364	A A	AACCTCCG others(12): Show AACCTCCGTCTCCTGGGCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02040.hp1 HG02523.hp2 others(9): Show HG00621.hp1 HG02040.hp1 HG02523.hp2 HG02735.hp2 HG03239.hp1 HG03688.hp2 HG03942.hp2 NA18975.hp1 NA18986.hp1 NA19007.hp1 NA19009.hp1 NA19057.hp2	a0004 a0004	a0004c0006 a0004c0041 a0004c0006 a0004c0041	a0004c0006t0010 a0004c0006t0013 a0004c0041t0063 a0004c0006t0010 a0004c0006t0013 a0004c0041t0063	a0004c0006t0010g0322 a0004c0006t0010g0323 a0004c0006t0010g0324 others(8): Show a0004c0006t0010g0322 a0004c0006t0010g0323 a0004c0006t0010g0324 a0004c0006t0010g0325 a0004c0006t0010g0326 a0004c0006t0010g0328 a0004c0006t0013g0022 a0004c0006t0013g0320 a0004c0006t0013g0321 a0004c0006t0013g0327 a0004c0041t0063g0329	12	354	0.0339	19	c.430 others(38): Show c.4303+1070_4303+1088dupGAGCCCAGGAGACGGAGGT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG4B_chr2_241632693_241678857	241642871	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18969.hp1 NA19054.hp1 others(1): Show HG00597.hp1 NA18969.hp1 NA19054.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0012 a0002c0003t0004 a0001c0002t0002 a0001c0002t0012 a0002c0003t0004	a0001c0002t0002g0149 a0001c0002t0002g0226 a0001c0002t0012g0147 others(1): Show a0001c0002t0002g0149 a0001c0002t0002g0226 a0001c0002t0012g0147 a0002c0003t0004g0150	4	66	0.0606	19	c.10+ others(34): Show c.10+5147_10+5148insTTTTTTTTTTTTTTTTTTT	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12			chr2	TogoVar
ATG4B_chr2_241632693_241678857	241675481	G G	GTTGCAAT others(12): Show GTTGCAATGAAAATAGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	408	0.0025	19	c.32 others(30): Show c.3217_*3218insTTGCAATGAAAATAGCAGA	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding		1625		chr2	TogoVar
ATG4C_chr1_62779132_62870516	62791870	A A	ATGCTCCT others(12): Show ATGCTCCTAGACATTAGACC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	320	0.0031	19	c.-69 others(36): Show c.-69+7600_-69+7618dupCTCCTAGACATTAGACCTG	ATG4C	ENSG00000125703.15	transcript	ENST00000317868.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATG4D_chr19_10538904_10558418	10548003	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	7	0.1429	19	c.835 others(34): Show c.835+777_835+795dupTTTTTTTTTTTTTTTTTTT	ATG4D	ENSG00000130734.10	transcript	ENST00000309469.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01192.hp1 others(6): Show HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01993.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0007 a0001c0002t0037 a0002c0003t0008 others(4): Show a0001c0002t0007 a0001c0002t0037 a0002c0003t0008 a0002c0003t0016 a0002c0003t0022 a0002c0003t0031 a0002c0004t0021	a0001c0002t0007g0183 a0001c0002t0037g0181 a0002c0003t0008g0275 others(6): Show a0001c0002t0007g0183 a0001c0002t0037g0181 a0002c0003t0008g0275 a0002c0003t0008g0276 a0002c0003t0016g0286 a0002c0003t0016g0287 a0002c0003t0022g0289 a0002c0003t0031g0124 a0002c0004t0021g0288	9	24	0.3750	19	c.187 others(38): Show c.1876-1927_1876-1926insTTTTTTTTTTTTTTTTTTT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11475908	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	279	0.0036	19	c.207 others(40): Show c.2079+48982_2079+48983insACACACACACACACACACA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20			chr3	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 NA20300.hp2 HG02280.hp2 HG02886.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0114 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0114	3	76	0.0395	19	c.364 others(38): Show c.364-10423_364-10405dupTTTTTTTTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03654.hp1 HG01952.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0022 a0001c0001t0002 a0002c0006t0022	a0001c0001t0002g0065 a0002c0006t0022g0204 a0001c0001t0002g0065 a0002c0006t0022g0204	2	29	0.0690	19	c.363 others(36): Show c.363+5763_363+5781dupTTTTTTTTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATOH8_chr2_85748991_85796383	85752632	C C	CAGAGAAG others(12): Show CAGAGAAGGGACCAGCAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	376	0.0027	19	c.-15 others(30): Show c.-1558_-1557insAGAGAAGGGACCAGCAAGG	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding		1358		chr2	TogoVar

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