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
ASTL_chr2_96117818_96143502	96138569	G G	GCCTCCAC others(20): Show GCCTCCACCTGCAGCCCCGCCCCAACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG02165.hp1 others(6): Show HG00423.hp1 HG00597.hp2 HG02165.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp2 NA18959.hp1 NA18983.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0002 a0002c0002t0001 a0002c0003t0002	a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0112 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0112 a0002c0002t0001g0123 a0002c0003t0002g0006	9	393	0.0229	27	c.-13 others(36): Show c.-134_-133insTGGTTGGGGCGGGGCTGCAGGTGGAGG	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding		68		chr2	TogoVar
ASTL_chr2_96117818_96143502	96138597	C C	CCTCCACC others(20): Show CCTCCACCTGCAGCCCCGCCCCAACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02257.hp1 others(6): Show HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp2 NA20129.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	9	291	0.0309	27	c.-16 others(36): Show c.-162_-161insATGGTTGGGGCGGGGCTGCAGGTGGAG	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding		96		chr2	TogoVar
ASTL_chr2_96117818_96143502	96138624	T T	TCTCCACC others(20): Show TCTCCACCTGCAGCCCCGCCCCAACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(81): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp2 HG02818.hp1 HG02922.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 NA18522.hp1 NA18939.hp2 NA18948.hp1 NA18950.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp1 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19063.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0002c0017 a0001c0008 a0002c0002 a0002c0017	a0001c0008t0001 a0002c0002t0001 a0002c0002t0005 others(2): Show a0001c0008t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0011 a0002c0017t0005	a0001c0008t0001g0085 a0002c0002t0001g0002 a0002c0002t0001g0004 others(30): Show a0001c0008t0001g0085 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0031 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0005g0096 a0002c0002t0005g0099 a0002c0002t0011g0107 a0002c0017t0005g0121	84	346	0.2428	27	c.-18 others(36): Show c.-189_-188insGTGGTTGGGGCGGGGCTGCAGGTGGAG	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding		123		chr2	TogoVar
ASTL_chr2_96117818_96143502	96138651	C C	CCTCCACC others(20): Show CCTCCACCTGCAGCCCCGCCCCAACCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00673.hp1 NA18946.hp2 others(4): Show HG00140.hp1 HG00673.hp1 NA18946.hp2 NA18956.hp1 NA18960.hp1 NA18967.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0001c0001t0001 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0019 a0001c0008t0001g0126 a0001c0008t0001g0127 others(1): Show a0001c0001t0001g0019 a0001c0008t0001g0126 a0001c0008t0001g0127 a0002c0002t0001g0111	7	394	0.0178	27	c.-21 others(36): Show c.-216_-215insCTGGTTGGGGCGGGGCTGCAGGTGGAG	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding		150		chr2	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0092 a0001c0002t0004g0092	1	12	0.0833	27	c.188 others(48): Show c.1889+41228_1889+41229insAAAAAAAAAAAAAAAAAAAAAAAA AAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060510	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0098 a0001c0012t0001g0098	1	44	0.0227	27	c.127 others(48): Show c.1277-20546_1277-20545insCTTTCTTTCTTTCTTTCTTTCTTT CTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG03710.hp1 HG02080.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0241 a0001c0002t0003g0245 a0001c0002t0003g0241 a0001c0002t0003g0245	2	176	0.0114	27	c.66 others(38): Show c.6623_*6624insCCCTTCCCTTCCCTTTCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	175	0.0057	27	c.66 others(38): Show c.6623_*6624insCCTTCCTTCCTTCCTTCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878010	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	174	0.0057	27	c.902 others(44): Show c.902-2107_902-2106insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	190	0.0053	27	c.902 others(44): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02109.hp1 NA18747.hp1 HG01257.hp1 HG02109.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0047 a0001c0001t0002g0069 a0001c0001t0003g0006 a0001c0001t0002g0047 a0001c0001t0002g0069 a0001c0001t0003g0006	3	49	0.0612	27	c.320 others(44): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATCAY_chr19_3875685_3933082	3908722	C C	CTCCCCTT others(20): Show CTCCCCTTCCCTCTCCTCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(55): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01168.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 NA18962.hp1 NA18986.hp2 NA19004.hp2 NA19066.hp1 NA19079.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0001t0044 a0001c0008t0001	a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0094 others(55): Show a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0205 a0001c0001t0001g0221 a0001c0001t0001g0258 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0370 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0120 a0001c0001t0002g0152 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0231 a0001c0001t0002g0244 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0321 a0001c0001t0002g0332 a0001c0001t0002g0359 a0001c0001t0002g0378 a0001c0001t0003g0028 a0001c0001t0003g0052 a0001c0001t0003g0058 a0001c0001t0003g0068 a0001c0001t0003g0212 a0001c0001t0003g0255 a0001c0001t0003g0304 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0004g0301 a0001c0001t0020g0178 a0001c0001t0020g0220 a0001c0001t0035g0083 a0001c0001t0036g0185 a0001c0001t0040g0290 a0001c0001t0044g0358 a0001c0008t0001g0093	58	298	0.1946	27	c.647 others(42): Show c.647+377_647+403dupTCTTCCCCTTCCCTCTCCTCCTCCCCC	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA18946.hp2 NA19080.hp2 HG01243.hp1 NA18946.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	3	174	0.0172	27	c.13 others(38): Show c.1391_*1392insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding		1311		chr22	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0147 a0001c0001t0061g0147	1	2	0.5000	27	c.180 others(46): Show c.1804+7932_1804+7933insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF7_chr12_53507054_53631382	53587366	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 NA18960.hp2 others(2): Show HG00423.hp1 HG00621.hp1 NA18960.hp2 NA19000.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0257 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0238 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0293 a0001c0001t0001g0328	5	93	0.0538	27	c.48+ others(44): Show c.48+13586_48+13587insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0082 a0001c0001t0011g0082	1	205	0.0049	27	c.48+ others(44): Show c.48+13109_48+13110insAAATATATATATATATATATATATATA	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	205	0.0049	27	c.48+ others(44): Show c.48+13109_48+13110insAAAAAAATATATATATATATATATATA	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587844	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18970.hp1 NA19084.hp1 HG02683.hp1 NA18970.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0062 a0001c0001t0001g0301 a0001c0001t0001g0304	3	243	0.0123	27	c.48+ others(44): Show c.48+13108_48+13109insTATATATATATATATATATATATATAT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATG10_chr5_81967023_82261133	82118400	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA20905.hp1 HG00735.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0005 a0004c0004t0002 a0001c0001t0005 a0004c0004t0002	a0001c0001t0005g0030 a0004c0004t0002g0179 a0001c0001t0005g0030 a0004c0004t0002g0179	2	187	0.0107	27	c.217 others(46): Show c.217-45994_217-45993insATATATATATATATATATATATTATA T	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG2B_chr14_96274195_96368341	96308283	T T	TATATATA others(20): Show TATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0166 a0002c0001t0006g0166	1	327	0.0031	27	c.430 others(46): Show c.4303+1169_4303+1170insTATATATATATATACATATATATATA T	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG4D_chr19_10538904_10558418	10555244	G G	GCCCGCAG others(20): Show GCCCGCAGCGCACCTGGCTCCGCCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	404	0.0025	27	c.21 others(38): Show c.2177_*2178insCCCGCAGCGCACCTGGCTCCGCCCTGC	ATG4D	ENSG00000130734.10	transcript	ENST00000309469.9	protein_coding		1827		chr19	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 HG02559.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0024 a0002c0003t0008 a0001c0002t0024 a0002c0003t0008	a0001c0002t0024g0200 a0002c0003t0008g0278 a0001c0002t0024g0200 a0002c0003t0008g0278	2	17	0.1176	27	c.187 others(46): Show c.1876-1927_1876-1926insTTTTTTTTTTTTTTTTTTTTTTTTTT T	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(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	279	0.0036	27	c.207 others(48): Show c.2079+48982_2079+48983insACACACACACACACACACACACAC ACA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20			chr3	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	74	0.0135	27	c.364 others(46): Show c.364-10431_364-10405dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758208	C C	CCACCTGC others(20): Show CCACCTGCTCCACCCTAACTCATTCGAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG02818.hp1 HG02886.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0021 a0001c0001 a0019c0021	a0001c0001t0001 a0019c0021t0001 a0001c0001t0001 a0019c0021t0001	a0001c0001t0001g0200 a0019c0021t0001g0198 a0001c0001t0001g0200 a0019c0021t0001g0198	2	242	0.0083	27	c.655 others(46): Show c.655-22068_655-22067insATCGAATGAGTTAGGGTGGAGCAGGT G	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758348	C C	CCACCTGC others(20): Show CCACCTGCTCCACCCTAACTCATTCGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0041 a0041	a0041c0059 a0041c0059	a0041c0059t0001 a0041c0059t0001	a0041c0059t0001g0275 a0041c0059t0001g0275	1	237	0.0042	27	c.655 others(46): Show c.655-22208_655-22207insATCGAATGAGTTAGGGTGGAGCAGGT G	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758512	C C	CCGATCAC others(20): Show CCGATCACCTGCTCCACCCTAACTCATT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0105 a0003c0003t0001g0105	1	298	0.0034	27	c.655 others(46): Show c.655-22372_655-22371insAATGAGTTAGGGTGGAGCAGGTGATC G	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160650118	T T	TTTATATA others(20): Show TTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0019 a0001c0008t0019	a0001c0008t0019g0029 a0001c0008t0019g0029	1	216	0.0046	27	c.676 others(42): Show c.676-863_676-862insTATATATATATATATATATATATATAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03710.hp2 HG02895.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0012 a0001c0001t0002 a0001c0005t0012	a0001c0001t0002g0153 a0001c0005t0012g0004 a0001c0001t0002g0153 a0001c0005t0012g0004	2	34	0.0588	27	c.-20 others(48): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAAAA AAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25			chr5	TogoVar
ATP10D_chr4_47480275_47598486	47482454	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03453.hp1 HG03579.hp1 others(1): Show HG02486.hp1 HG03453.hp1 HG03579.hp1 NA20300.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0003 a0002c0008 a0012c0013 a0001c0003 a0002c0008 a0012c0013	a0001c0003t0001 a0002c0008t0001 a0012c0013t0008 a0001c0003t0001 a0002c0008t0001 a0012c0013t0008	a0001c0003t0001g0018 a0001c0003t0001g0020 a0002c0008t0001g0016 others(1): Show a0001c0003t0001g0018 a0001c0003t0001g0020 a0002c0008t0001g0016 a0012c0013t0008g0017	4	219	0.0183	27	c.-31 others(38): Show c.-3103_-3102insTCTTCTTCTTCTTCTTCTTCTTCTTCT	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding		2820		chr4	TogoVar
ATP11A_chr13_112685038_112892168	112803833	C C	CTCCTCCT others(20): Show CTCCTCCTTCCTCTCCTTCCCCTCCTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02258.hp1 HG01255.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0024 a0001c0004 a0001c0024	a0001c0004t0006 a0001c0024t0040 a0001c0004t0006 a0001c0024t0040	a0001c0004t0006g0124 a0001c0024t0040g0043 a0001c0004t0006g0124 a0001c0024t0040g0043	2	247	0.0081	27	c.163 others(44): Show c.163-1115_163-1089dupCCTCTCCTTCCCCTCCTTTTCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804049	T T	TTCACCTC others(20): Show TTCACCTCCCTCCCTGCCATCCCCTCTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18971.hp1 HG01517.hp1 NA18971.hp1	a0001 a0013 a0001 a0013	a0001c0005 a0013c0033 a0001c0005 a0013c0033	a0001c0005t0020 a0013c0033t0001 a0001c0005t0020 a0013c0033t0001	a0001c0005t0020g0247 a0013c0033t0001g0166 a0001c0005t0020g0247 a0013c0033t0001g0166	2	250	0.0080	27	c.163 others(42): Show c.163-907_163-906insCACCTCCCTCCCTGCCATCCCCTCTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11C_chrX_139721348_139938053	139803685	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0006 a0003c0004t0008g0006	1	34	0.0294	27	c.555 others(42): Show c.555+759_555+785dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	6/29			chrX	TogoVar
ATP13A4_chr3_193393967_193559895	193541248	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02615.hp2 HG01256.hp2 HG02615.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0003 a0003c0005t0002 a0003c0005t0003	a0003c0005t0002g0278 a0003c0005t0003g0277 a0003c0005t0002g0278 a0003c0005t0003g0277	2	220	0.0091	27	c.60+ others(44): Show c.60+13491_60+13492insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	1/29			chr3	TogoVar
ATP2B2_chr3_10319023_10510586	10402845	G G	GAGGAGAG others(20): Show GAGGAGAGAAAAGAGAATTTTCTCTAAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0178 a0001c0001t0058g0178	1	288	0.0035	27	c.398 others(42): Show c.398-524_398-498dupATTAGAGAAAATTCTCTTTTCTCTCCT	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	3/22			chr3	TogoVar
ATP2B3_chrX_153512642_153587929	153584594	A A	AGGGAGGG others(20): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 NA19043.hp1 HG02886.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0033 a0001c0017t0025 a0001c0003t0033 a0001c0017t0025	a0001c0003t0033g0030 a0001c0017t0025g0226 a0001c0003t0033g0030 a0001c0017t0025g0226	2	264	0.0076	27	c.42 others(38): Show c.4296_*4297insGGGAGGGAGGGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1666		chrX	TogoVar
ATP2C2_chr16_84363538_84469187	84377136	G G	GAGTAGTG others(20): Show GAGTAGTGGAAGCCGTGTGCTAAGTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0048 a0002c0006t0001g0048	1	430	0.0023	27	c.99+ others(42): Show c.99+8461_99+8487dupCCGTGTGCTAAGTCTTAGTAGTGGAAG	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01981.hp1 HG03831.hp2 others(3): Show HG01978.hp2 HG01981.hp1 HG03831.hp2 NA18977.hp1 NA19058.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0002c0007	a0001c0001t0003 a0001c0002t0002 a0001c0005t0001 others(2): Show a0001c0001t0003 a0001c0002t0002 a0001c0005t0001 a0002c0004t0001 a0002c0007t0001	a0001c0001t0003g0203 a0001c0001t0003g0350 a0001c0002t0002g0239 others(3): Show a0001c0001t0003g0203 a0001c0001t0003g0350 a0001c0002t0002g0239 a0001c0005t0001g0191 a0002c0004t0001g0189 a0002c0007t0001g0407	6	25	0.2400	27	c.100 others(42): Show c.100-826_100-825insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	8	0.1250	27	c.32 others(38): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02886.hp2 HG03239.hp1 others(1): Show HG02129.hp2 HG02886.hp2 HG03239.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0078 a0001c0001t0001g0024 a0001c0001t0001g0078	4	71	0.0563	27	c.39+ others(40): Show c.39+492_39+493insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02970.hp2 NA18943.hp1 HG01123.hp2 HG02970.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0000 a0001c0002t0005g0000 a0001c0001t0001g0000 a0001c0002t0005g0000	3	63	0.0476	27	c.12 others(38): Show c.1243_*1244insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01257.hp1 HG01346.hp1 others(7): Show HG01167.hp1 HG01257.hp1 HG01346.hp1 HG02074.hp2 HG02273.hp1 HG02273.hp2 HG03209.hp1 HG03831.hp1 NA19060.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0010 a0002c0002 others(2): Show a0001c0001 a0001c0010 a0002c0002 a0004c0011 a0006c0009	a0001c0001t0001 a0001c0010t0004 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0010t0004 a0002c0002t0001 a0004c0011t0001 a0006c0009t0001	a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0213 others(7): Show a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0010t0004g0172 a0002c0002t0001g0086 a0002c0002t0001g0247 a0002c0002t0001g0285 a0004c0011t0001g0063 a0006c0009t0001g0217	10	173	0.0578	27	c.157 others(46): Show c.1572+2426_1572+2427insTATATATATATATATATATATATATA T	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745658	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(37): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp2 HG01358.hp1 HG01516.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG03098.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp2 HG03834.hp2 NA18944.hp2 NA18948.hp1 NA18999.hp1 NA18999.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0010 a0001c0014 others(5): Show a0001c0001 a0001c0010 a0001c0014 a0002c0002 a0002c0003 a0002c0019 a0003c0036 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0010t0002 a0001c0014t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0019t0003 a0003c0036t0001 a0006c0009t0001	a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0070 others(37): Show a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0224 a0001c0001t0001g0249 a0001c0001t0001g0293 a0001c0001t0001g0304 a0001c0001t0001g0316 a0001c0001t0001g0325 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0361 a0001c0001t0001g0365 a0001c0001t0002g0187 a0001c0001t0002g0331 a0001c0001t0003g0097 a0001c0001t0005g0245 a0001c0001t0014g0376 a0001c0010t0002g0197 a0001c0010t0002g0363 a0001c0014t0001g0125 a0002c0002t0001g0082 a0002c0002t0001g0088 a0002c0002t0001g0203 a0002c0002t0001g0256 a0002c0002t0001g0296 a0002c0002t0001g0305 a0002c0003t0001g0066 a0002c0003t0002g0065 a0002c0019t0003g0267 a0003c0036t0001g0046 a0006c0009t0001g0201 a0006c0009t0001g0216	40	154	0.2597	27	c.132 others(44): Show c.1321-379_1321-378insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP8A2_chr13_25366974_26030851	25937362	C C	CTTTCTTT others(20): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02622.hp1 HG03654.hp1 others(3): Show HG00642.hp1 HG02622.hp1 HG03654.hp1 HG06807.hp2 NA18522.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0040 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0040 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0003t0007	a0001c0001t0001g0036 a0001c0001t0040g0038 a0001c0002t0001g0039 others(3): Show a0001c0001t0001g0036 a0001c0001t0040g0038 a0001c0002t0001g0039 a0001c0002t0003g0087 a0001c0002t0016g0011 a0001c0003t0007g0109	6	22	0.2727	27	c.318 others(48): Show c.3184-24210_3184-24209insCTTTTTTTTTTTTTTTTTTTTTTT TTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18964.hp1 NA19054.hp2 HG03491.hp2 NA18964.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0036 a0001c0001t0002 a0001c0001t0015 a0001c0001t0036	a0001c0001t0002g0220 a0001c0001t0015g0177 a0001c0001t0036g0179 a0001c0001t0002g0220 a0001c0001t0015g0177 a0001c0001t0036g0179	3	16	0.1875	27	c.163 others(46): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50087308	A A	ATATAATA others(20): Show ATATAATAGATATAGATCTATATTTATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0010 a0014c0013t0010	a0014c0013t0010g0224 a0014c0013t0010g0224	1	252	0.0040	27	c.29- others(44): Show c.29-13124_29-13123insCATAAATATAGATCTATATCTATTATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51651237	C C	CATAATAT others(20): Show CATAATATATATTTACATAATATATTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01515.hp1 HG02615.hp1 others(2): Show HG00140.hp1 HG01515.hp1 HG02615.hp1 HG04199.hp2 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0020 a0001c0003 a0001c0004 a0001c0020	a0001c0003t0007 a0001c0003t0025 a0001c0003t0076 others(2): Show a0001c0003t0007 a0001c0003t0025 a0001c0003t0076 a0001c0004t0067 a0001c0020t0009	a0001c0003t0007g0307 a0001c0003t0025g0095 a0001c0003t0076g0312 others(2): Show a0001c0003t0007g0307 a0001c0003t0025g0095 a0001c0003t0076g0312 a0001c0004t0067g0168 a0001c0020t0009g0121	5	264	0.0189	27	c.150 others(46): Show c.1506+5674_1506+5700dupATAATATATTATGTAAATATATATTA T	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51651255	A A	AATATATT others(20): Show AATATATTATATAATATATATTTACATT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02056.hp1 NA19056.hp2 HG01257.hp1 HG02056.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0032 a0001c0001t0007 a0001c0001t0027 a0001c0001t0032	a0001c0001t0007g0268 a0001c0001t0027g0212 a0001c0001t0032g0199 a0001c0001t0007g0268 a0001c0001t0027g0212 a0001c0001t0032g0199	3	242	0.0124	27	c.150 others(46): Show c.1506+5682_1506+5683insAATGTAAATATATATTATATAATATA T	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51651282	A A	AATATATT others(20): Show AATATATTATATAATATATATTTACATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(49): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01358.hp2 HG01433.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03516.hp2 HG03710.hp1 NA18906.hp2 NA18943.hp1 NA18957.hp1 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18995.hp2 NA18998.hp1 NA19010.hp2 NA19056.hp1 NA19065.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0011 a0001c0001 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0031 a0001c0001t0033 a0001c0001t0055 a0001c0001t0058 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0074 a0001c0001t0078 a0001c0007t0001 a0001c0011t0045	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 others(49): Show a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0171 a0001c0001t0001g0209 a0001c0001t0001g0274 a0001c0001t0002g0195 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0169 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0263 a0001c0001t0003g0267 a0001c0001t0005g0106 a0001c0001t0006g0059 a0001c0001t0006g0062 a0001c0001t0006g0098 a0001c0001t0006g0228 a0001c0001t0006g0257 a0001c0001t0006g0262 a0001c0001t0006g0302 a0001c0001t0008g0083 a0001c0001t0009g0020 a0001c0001t0010g0033 a0001c0001t0010g0198 a0001c0001t0010g0273 a0001c0001t0011g0021 a0001c0001t0019g0265 a0001c0001t0019g0308 a0001c0001t0020g0027 a0001c0001t0020g0103 a0001c0001t0021g0035 a0001c0001t0021g0042 a0001c0001t0021g0100 a0001c0001t0022g0045 a0001c0001t0023g0019 a0001c0001t0027g0256 a0001c0001t0031g0160 a0001c0001t0033g0096 a0001c0001t0055g0076 a0001c0001t0058g0014 a0001c0001t0069g0216 a0001c0001t0070g0218 a0001c0001t0071g0142 a0001c0001t0074g0008 a0001c0001t0078g0058 a0001c0007t0001g0023 a0001c0011t0045g0196	52	201	0.2587	27	c.150 others(46): Show c.1506+5655_1506+5656insAATGTAAATATATATTATATAATATA T	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51651341	A A	ATTATATA others(20): Show ATTATATAATATATATTTACATTATATG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0300 a0001c0001t0005g0300	1	310	0.0032	27	c.150 others(46): Show c.1506+5596_1506+5597insCATATAATGTAAATATATATTATATA A	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar

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