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
ASCC3_chr6_100503194_100886329	100681725	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp1 HG02602.hp2 others(7): Show HG02071.hp2 HG02132.hp1 HG02602.hp2 HG04199.hp2 NA18747.hp2 NA18945.hp1 NA18955.hp1 NA18974.hp1 NA18977.hp2 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0178 others(7): Show a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0178 a0003c0004t0004g0183 a0003c0004t0004g0185 a0003c0004t0004g0189 a0003c0004t0004g0190 a0003c0004t0004g0191 a0003c0004t0004g0195 a0003c0004t0004g0200	10	107	0.0935	17	c.215 others(36): Show c.2152-1990_2152-1974dupTTTTTTTTTTTTTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41			chr6	TogoVar
ASCL3_chr11_8932578_8948016	8936744	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG02055.hp1 others(9): Show HG00140.hp1 HG00621.hp1 HG02055.hp1 HG02071.hp1 HG03669.hp1 HG04204.hp1 HG04228.hp1 NA18946.hp1 NA18955.hp1 NA18970.hp1 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0060	12	147	0.0816	17	c.87 others(26): Show c.871_*872insAAAAAAAAAAAAAAAAA	ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding		833		chr11	TogoVar
ASF1A_chr6_118889152_118914171	118893940	T T	TCCCCGCC others(10): Show TCCCCGCCGCGGCCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	17	c.-47 others(26): Show c.-474_-473insCCCCGCCGCGGCCACGC	ASF1A	ENSG00000111875.8	transcript	ENST00000229595.6	protein_coding		211		chr6	TogoVar
ASNS_chr7_97846677_97877408	97867166	T T	TCCCCCCC others(10): Show TCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	434	0.0023	17	c.249 others(34): Show c.249+1741_249+1742insGGGGGGGGGGGGGGGGG	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/12			chr7	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(10): Show ACCCCGCCAGGCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0106 a0001c0001t0004g0013 a0001c0001t0004g0106	2	152	0.0132	17	c.-28 others(26): Show c.-288_-287insCCCCGCCAGGCCCCGCC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02257.hp2 HG01993.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0129 a0001c0001t0001g0109 a0001c0001t0001g0129	2	5	0.4000	17	c.176 others(36): Show c.1764+8371_1764+8372insACACACACACACACACA	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01168.hp1 HG02148.hp2 others(12): Show HG00438.hp2 HG01168.hp1 HG02148.hp2 HG02735.hp2 HG02818.hp1 HG02970.hp2 HG03130.hp2 NA18943.hp2 NA18944.hp1 NA19001.hp1 NA19005.hp2 NA19065.hp1 NA19068.hp1 NA19083.hp2 NA21309.hp1	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0003 a0003c0012 a0021c0048 a0001c0003 a0003c0012 a0021c0048	a0001c0003t0001 a0003c0012t0002 a0021c0048t0001 a0001c0003t0001 a0003c0012t0002 a0021c0048t0001	a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0015 others(9): Show a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0015 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0173 a0001c0003t0001g0175 a0001c0003t0001g0182 a0001c0003t0001g0188 a0001c0003t0001g0194 a0003c0012t0002g0068 a0021c0048t0001g0133	15	42	0.3571	17	c.-18 others(28): Show c.-1897_-1896insTTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASRGL1_chr11_62332448_62398412	62362561	T T	TAAAATAT others(10): Show TAAAATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	314	0.0032	17	c.491 others(34): Show c.491+5417_491+5418insAAAATATATATTATATA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6			chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62383602	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	90	0.0111	17	c.492 others(34): Show c.492-5521_492-5505dupAAAAAAAAAAAAAAAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130483814	C C	CTCCCTTT others(10): Show CTCCCTTTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	372	0.0027	17	c.838 others(34): Show c.838+3365_838+3366insTCCCTTTCCTCCTCCTT	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	11/14			chr9	TogoVar
ASTN1_chr1_176856067_177169712	176922556	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	25	0.0400	17	c.267 others(38): Show c.2671+11579_2671+11595dupTTTTTTTTTTTTTTTTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	16/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116453593	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0024 a0001c0002t0008g0024	1	23	0.0435	17	c.349 others(38): Show c.3498-11057_3498-11041dupTTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116490272	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01515.hp1 HG02004.hp2 others(2): Show HG01099.hp1 HG01515.hp1 HG02004.hp2 HG03540.hp1 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0001c0017 a0003c0019	a0001c0002t0001 a0001c0003t0014 a0001c0010t0004 others(2): Show a0001c0002t0001 a0001c0003t0014 a0001c0010t0004 a0001c0017t0002 a0003c0019t0002	a0001c0002t0001g0057 a0001c0003t0014g0083 a0001c0010t0004g0009 others(2): Show a0001c0002t0001g0057 a0001c0003t0014g0083 a0001c0010t0004g0009 a0001c0017t0002g0089 a0003c0019t0002g0025	5	21	0.2381	17	c.335 others(36): Show c.3356-2789_3356-2773dupTTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116910066	A A	AGCCCACC others(10): Show AGCCCACCATGGTGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp1 HG02615.hp2 others(6): Show HG00639.hp1 HG01496.hp1 HG02615.hp2 HG02809.hp1 HG03041.hp1 HG03239.hp1 HG03471.hp1 HG03540.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0008 a0001c0003t0002 a0001c0003t0005 a0001c0003t0014 a0002c0004t0002	a0001c0001t0002g0050 a0001c0001t0005g0035 a0001c0001t0006g0016 others(6): Show a0001c0001t0002g0050 a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0001t0015g0045 a0001c0002t0008g0024 a0001c0003t0002g0044 a0001c0003t0005g0082 a0001c0003t0014g0083 a0002c0004t0002g0005	9	100	0.0900	17	c.189 others(38): Show c.1890-46350_1890-46334dupCTTTCACCATGGTGGGC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02451.hp1 HG02809.hp1 HG01261.hp2 HG02451.hp1 HG02809.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0018 a0001c0001 a0004c0018	a0001c0001t0001 a0001c0001t0005 a0004c0018t0003 a0001c0001t0001 a0001c0001t0005 a0004c0018t0003	a0001c0001t0001g0028 a0001c0001t0005g0035 a0004c0018t0003g0031 a0001c0001t0001g0028 a0001c0001t0005g0035 a0004c0018t0003g0031	3	14	0.2143	17	c.188 others(38): Show c.1889+41212_1889+41228dupAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19065.hp1 HG00099.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0062 a0001c0002t0003g0022 a0001c0001t0003g0062 a0001c0002t0003g0022	2	34	0.0588	17	c.127 others(36): Show c.1277-9015_1277-8999dupAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32378003	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0199 a0001c0002t0002g0199	1	276	0.0036	17	c.252 others(34): Show c.252+8880_252+8881insGTGTGTGTGTGTGTGTG	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12			chr20	TogoVar
ASXL3_chr18_33573219_33756195	33590111	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02145.hp2 others(6): Show HG01109.hp2 HG02055.hp2 HG02145.hp2 HG02723.hp1 HG03195.hp2 HG03486.hp1 HG03579.hp2 HG03704.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0006c0025	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0002c0002t0004 a0002c0002t0019 a0002c0006t0007 a0003c0003t0013 a0006c0025t0041	a0001c0001t0001g0008 a0001c0001t0008g0033 a0001c0001t0014g0179 others(6): Show a0001c0001t0001g0008 a0001c0001t0008g0033 a0001c0001t0014g0179 a0002c0002t0004g0167 a0002c0002t0019g0178 a0002c0006t0007g0031 a0002c0006t0007g0036 a0003c0003t0013g0010 a0006c0025t0041g0005	9	152	0.0592	17	c.54+ others(34): Show c.54+11429_54+11445dupTTTTTTTTTTTTTTTTT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33652603	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02280.hp2 others(5): Show HG01109.hp1 HG02109.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp2 NA18994.hp2 NA19010.hp2 NA19054.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0002c0002t0003 a0002c0002t0004 a0005c0007t0001	a0001c0001t0001g0040 a0001c0001t0002g0140 a0001c0001t0002g0166 others(5): Show a0001c0001t0001g0040 a0001c0001t0002g0140 a0001c0001t0002g0166 a0001c0005t0002g0002 a0002c0002t0003g0108 a0002c0002t0004g0120 a0002c0002t0004g0161 a0005c0007t0001g0107	8	86	0.0930	17	c.355 others(34): Show c.355+6263_355+6264insAAAAAAAAAAAAAAAAA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33676222	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01255.hp1 others(7): Show HG01070.hp1 HG01071.hp2 HG01255.hp1 HG01943.hp1 HG02258.hp2 HG02647.hp2 HG02922.hp2 HG03130.hp1 HG03225.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0011 a0001c0001t0022 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0022 a0001c0001t0039 a0002c0002t0003 a0002c0006t0043	a0001c0001t0001g0105 a0001c0001t0001g0175 a0001c0001t0001g0186 others(7): Show a0001c0001t0001g0105 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0011g0137 a0001c0001t0022g0073 a0001c0001t0039g0102 a0002c0002t0003g0136 a0002c0006t0043g0101	10	95	0.1053	17	c.715 others(34): Show c.715+4365_715+4381dupAAAAAAAAAAAAAAAAA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGA others(10): Show AAGGAAGAAAGGAAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG04228.hp1 HG03942.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0120 a0001c0001t0004g0109 a0001c0001t0004g0120	2	176	0.0114	17	c.66 others(28): Show c.6623_*6624insCCCTTTCCTTTCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(10): Show AAGGAAGGAAGGAAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	175	0.0057	17	c.66 others(28): Show c.6623_*6624insCCCTTTCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23764794	A A	ACACACAT others(10): Show ACACACATCAAGCTATTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01074.hp2 others(20): Show HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01243.hp1 HG01257.hp2 HG01433.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02818.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 NA18986.hp2 NA19086.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0002t0007 others(1): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012	a0001c0001t0003g0007 a0001c0001t0003g0107 a0001c0001t0003g0224 others(20): Show a0001c0001t0003g0007 a0001c0001t0003g0107 a0001c0001t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0245 a0001c0002t0007g0243 a0001c0002t0007g0244 a0001c0002t0012g0233	23	244	0.0943	17	c.325 others(34): Show c.3256+711_3256+712insAAATAGCTTGATGTGTG	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	23/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01261.hp1 others(2): Show HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0047 others(2): Show a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0106	5	194	0.0258	17	c.902 others(34): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0011	1	135	0.0074	17	c.164 others(36): Show c.1646+1524_1646+1525insATATATATATATTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01258.hp2 HG01891.hp2 others(5): Show HG00423.hp2 HG01258.hp2 HG01891.hp2 HG02257.hp2 HG02886.hp2 HG03516.hp1 NA18959.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0005t0001	a0001c0001t0001g0044 a0001c0001t0002g0056 a0001c0001t0002g0156 others(5): Show a0001c0001t0001g0044 a0001c0001t0002g0056 a0001c0001t0002g0156 a0001c0002t0001g0130 a0001c0002t0003g0012 a0001c0002t0007g0010 a0001c0002t0008g0003 a0001c0005t0001g0163	8	54	0.1481	17	c.320 others(34): Show c.320+3421_320+3437dupTTTTTTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATCAY_chr19_3875685_3933082	3914235	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02145.hp1 HG02486.hp1 others(8): Show HG00099.hp2 HG02145.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp2 HG02886.hp2 HG02897.hp2 HG03130.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0034	a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0183 others(8): Show a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0183 a0001c0001t0002g0229 a0001c0001t0010g0087 a0001c0001t0010g0186 a0001c0001t0010g0264 a0001c0001t0015g0160 a0001c0001t0015g0328 a0001c0001t0018g0098 a0001c0001t0034g0316	11	57	0.1930	17	c.965 others(32): Show c.965+394_965+395insAAAAAAAAAAAAAAAAA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATF2_chr2_175067259_175173203	175141022	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	160	0.0063	17	c.-43 others(34): Show c.-43-4537_-43-4536insATATATATATATATATA	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	2/13			chr2	TogoVar
ATF2_chr2_175067259_175173203	175163918	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01358.hp1 others(6): Show HG00738.hp2 HG01168.hp1 HG01358.hp1 HG01433.hp1 HG04115.hp2 NA18949.hp2 NA19001.hp2 NA19005.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 others(6): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0009g0107	9	33	0.2727	17	c.-14 others(36): Show c.-143+4131_-143+4132insTTTTTTTTTTTTTTTTT	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	1/13			chr2	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02622.hp2 HG02083.hp1 HG02622.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0010 a0002c0002 a0008c0010	a0002c0002t0002 a0008c0010t0002 a0002c0002t0002 a0008c0010t0002	a0002c0002t0002g0001 a0008c0010t0002g0001 a0002c0002t0002g0001 a0008c0010t0002g0001	2	173	0.0116	17	c.13 others(28): Show c.1391_*1392insTTTTTTTTTTTTTTTTT	ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding		1311		chr22	TogoVar
ATF6_chr1_161761320_161969070	161829189	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0023 a0002c0003t0023	a0002c0003t0023g0237 a0002c0003t0023g0237	1	181	0.0055	17	c.118 others(36): Show c.1187+8037_1187+8053dupTTTTTTTTTTTTTTTTT	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF6_chr1_161761320_161969070	161906339	A A	ACAAGAAA others(10): Show ACAAGAAACCATTTTGAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0012 a0001c0001t0064g0012	1	330	0.0030	17	c.172 others(36): Show c.1720-5948_1720-5932dupCATTTTGACCAAGAAAC	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp2 NA18612.hp2 others(5): Show HG00323.hp2 HG01099.hp2 NA18612.hp2 NA18939.hp1 NA18954.hp1 NA18970.hp2 NA18994.hp2 NA19004.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0056 a0001c0002t0009 a0001c0002t0045 others(2): Show a0001c0001t0056 a0001c0002t0009 a0001c0002t0045 a0003c0004t0003 a0003c0004t0007	a0001c0001t0056g0114 a0001c0002t0009g0052 a0001c0002t0045g0053 others(5): Show a0001c0001t0056g0114 a0001c0002t0009g0052 a0001c0002t0045g0053 a0003c0004t0003g0103 a0003c0004t0003g0108 a0003c0004t0007g0066 a0003c0004t0007g0067 a0003c0004t0007g0069	8	9	0.8889	17	c.180 others(36): Show c.1804+7916_1804+7932dupTTTTTTTTTTTTTTTTT	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF7IP2_chr16_10381061_10488638	10475722	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG01109.hp1 HG02055.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0010 a0002c0008t0010	a0002c0008t0010g0193 a0002c0008t0010g0196 a0002c0008t0010g0193 a0002c0008t0010g0196	2	109	0.0183	17	c.154 others(36): Show c.1549+1739_1549+1755dupAAAAAAAAAAAAAAAAA	ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATF7_chr12_53507054_53631382	53510527	T T	TGCACTTC others(10): Show TGCACTTCACTGCAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG03130.hp2 others(3): Show HG01891.hp2 HG02559.hp2 HG03130.hp2 HG03195.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0008 a0001c0003t0030 a0001c0003t0001 a0001c0003t0008 a0001c0003t0030	a0001c0003t0001g0235 a0001c0003t0008g0225 a0001c0003t0008g0227 others(3): Show a0001c0003t0001g0235 a0001c0003t0008g0225 a0001c0003t0008g0227 a0001c0003t0008g0228 a0001c0003t0008g0230 a0001c0003t0030g0330	6	328	0.0183	17	c.66 others(28): Show c.6609_*6610insCACTTGCAGTGAAGTGC	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding		1526		chr12	TogoVar
ATF7_chr12_53507054_53631382	53535328	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00609.hp2 others(16): Show HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00741.hp2 HG01258.hp2 HG01433.hp1 HG01943.hp2 HG01993.hp2 HG02135.hp2 HG02148.hp2 HG02486.hp1 HG03492.hp2 HG03834.hp1 NA18982.hp2 NA18983.hp1 NA18991.hp1 NA19087.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0028	a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0111 others(16): Show a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0139 a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0028g0224	19	268	0.0709	17	c.403 others(32): Show c.403-686_403-670dupTTTTTTTTTTTTTTTTT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	5/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53542107	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02723.hp1 HG01169.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0232 a0001c0001t0001g0234	2	164	0.0122	17	c.264 others(34): Show c.264+1206_264+1222dupAAAAAAAAAAAAAAAAA	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	4/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587844	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03710.hp1 NA18944.hp1 others(1): Show HG03654.hp2 HG03710.hp1 NA18944.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0292 others(1): Show a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0292 a0001c0001t0019g0290	4	244	0.0164	17	c.48+ others(34): Show c.48+13108_48+13109insTATATATATATATATAT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATG10_chr5_81967023_82261133	82033965	T T	TATAGTAT others(10): Show TATAGTATATATACATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0207 a0003c0003t0003g0207	1	224	0.0045	17	c.109 others(36): Show c.109-24527_109-24511dupAGTATATATACATACAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82121941	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	176	0.0057	17	c.217 others(36): Show c.217-42455_217-42439dupTTTTTTTTTTTTTTTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82138883	C C	CCCTCCCC others(10): Show CCCTCCCCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	224	0.0045	17	c.217 others(36): Show c.217-25512_217-25511insCCCCTCCCCCTCTCCTC	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(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0187 a0004c0004t0006g0187	1	28	0.0357	17	c.217 others(34): Show c.217-2703_217-2702insCACACACACACACACAC	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7			chr5	TogoVar
ATG14_chr14_55361391_55416830	55380876	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0303	1	197	0.0051	17	c.878 others(32): Show c.878-187_878-186insTATATATATATATATAT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	6/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	190	0.0053	17	c.222 others(34): Show c.222-5493_222-5492insATATATATATATATTTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03927.hp2 HG00140.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0208 a0001c0004t0002g0013 a0001c0002t0002g0208 a0001c0004t0002g0013	2	191	0.0105	17	c.222 others(34): Show c.222-5493_222-5492insATATATATATATATATT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG16L1_chr2_233246673_233300669	233286621	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03098.hp1 HG02055.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	2	142	0.0141	17	c.120 others(36): Show c.1204-3227_1204-3211dupTTTTTTTTTTTTTTTTT	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG2A_chr11_64889546_64922209	64904816	T T	TTATTTTA others(10): Show TTATTTTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0140 a0004c0005t0001g0140	1	326	0.0031	17	c.346 others(34): Show c.3464+746_3464+747insGATAGATAGATAAAATA	ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding	24/40			chr11	TogoVar
ATG2A_chr11_64889546_64922209	64920950	T T	TATATATA others(10): Show TATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	17	c.-38 others(28): Show c.-3816_-3815insTATATATATATATATAT	ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding		3742		chr11	TogoVar
ATG2B_chr14_96274195_96368341	96364283	A A	ACCCGCCC others(10): Show ACCCGCCCCCTGACCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	354	0.0028	17	c.-13 others(28): Show c.-1308_-1307insGGGGGTCAGGGGGCGGG	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding		943		chr14	TogoVar
ATG3_chr3_112527510_112566962	112529516	A A	AAGTTGTG others(10): Show AAGTTGTGAATTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	17	c.31 others(28): Show c.3182_*3183insCAAAAAAATTCACAACT	ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding		2993		chr3	TogoVar

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