Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACAP3_chr1_1287391_1312930	1288264	TCTGCTCC others(103): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA19083.hp2 HG02922.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0002g0153 a0001c0001t0001g0067 a0001c0001t0002g0153	2	282	0.0071	-110	c.51 others(11): Show c.5190_*5299del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4126		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288641	CCCGTCCC others(103): Show CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0119 a0001c0003t0002g0119	1	168	0.0060	-110	c.48 others(11): Show c.4813_*4922del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3749		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288757	CCGTGTCC others(103): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0155	1	285	0.0035	-110	c.46 others(11): Show c.4697_*4806del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3633		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288869	CCGTGTCT others(103): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	290	0.0034	-110	c.45 others(11): Show c.4585_*4694del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3521		chr1	TogoVar
ACSF3_chr16_89088852_89161233	89137338	GGGTCTCG others(103): Show GGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGA GCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0107 a0001c0001t0017g0107	1	364	0.0027	-110	c.136 others(19): Show c.1366+4111_1366+4220del	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137373	GGATTGAG others(103): Show GGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGC TCACGGGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02615.hp1 HG00323.hp2 HG02615.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0011 a0003c0008t0008 a0001c0001t0011 a0003c0008t0008	a0001c0001t0011g0013 a0003c0008t0008g0036 a0001c0001t0011g0013 a0003c0008t0008g0036	2	358	0.0056	-110	c.136 others(19): Show c.1366+4136_1366+4245del	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTR3B_chr7_152754752_152860378	152785374	TGTGAGGG others(103): Show TGTGAGGGGGGGGGGAGGGGAGGGGGAGGGGGAGAGGGAGGGAGAGGGAG GGAGAGAGAGGGGGAGGGGGAGGGGGGAGAGGGGGGAGGGGGAGGGGGAG GGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp2 HG03579.hp2 HG01891.hp1 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0176 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0176	3	300	0.0100	-110	c.100 others(17): Show c.100+2134_100+2243del	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS2_chr5_179105853_179350461	179217745	CTAGGGGA others(103): Show CTAGGGGATGGTGTGAGGGGGGATGGGCACACTCACTAGGGGATGGCGCA AGGGGGGGATGGGCACACTCACTAGGGGATGGCCTGAGGGCAGACAGGCA CACTCACTAGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0001 a0003c0042t0001	a0003c0042t0001g0145 a0003c0042t0001g0145	1	274	0.0036	-110	c.689 others(19): Show c.689-10140_689-10031del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS8_chr11_130399923_130433609	130431459	TTGGCTAT others(103): Show TTGGCTATGTTAAACCCAGGACCTGGCTATGTTAAACCCAGGACCTGGCT ATGTTAAACCCAGGACCTGGCTATGTTAAACCCAGGACCTGGCTATGTTA AACCCAGGACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	87	0.0115	-110	c.-32 others(11): Show c.-3283_-3174del	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding		2851		chr11	TogoVar
AGBL1_chr15_86074871_86921156	86827337	ATGTGTAT others(103): Show ATGTGTATATATATATATATATATATGTGTGTGTATATATATATATACAC ATATATATATACATATATATATGTGTATATATATATATATATACACATAT ATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0058 a0001c0015t0058	a0001c0015t0058g0027 a0001c0015t0058g0027	1	102	0.0098	-110	c.315 others(21): Show c.3159-79746_3159-79637del	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGMO_chr7_15195317_15567015	15322590	ATAAATAT others(103): Show ATAAATATATATAAATATATATAAATATATAAATATATATAAATATATAT AAATATATAAATATATATATAAATATATATAAATATATGTATATATAAAT ATATGAATATG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp1 NA19030.hp2 HG02965.hp2 NA18522.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0008 a0001c0003 a0004c0008	a0001c0003t0001 a0001c0003t0002 a0004c0008t0001 a0001c0003t0001 a0001c0003t0002 a0004c0008t0001	a0001c0003t0001g0189 a0001c0003t0002g0187 a0004c0008t0001g0225 a0001c0003t0001g0189 a0001c0003t0002g0187 a0004c0008t0001g0225	3	234	0.0128	-110	c.126 others(21): Show c.1263+42814_1263+42923del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
ALG6_chr1_63362627_63443553	63422204	AATATAAA others(103): Show AATATAAATATATATTTATATAAATATAAATATATATATAAATATATATA TTTATATAGATATAAATATATATATAAATATATATATTTATATAGATATA AATATATATCT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0318 a0001c0001t0004g0319	2	386	0.0052	-110	c.105 others(19): Show c.1058+2770_1058+2879del	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56397703	AATCATTT others(103): Show AATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCAT TTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAA TATATAAATGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0119 a0001c0001t0007g0119	1	234	0.0043	-110	c.108 others(19): Show c.1085+3920_1085+4029del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89342076	CGCCCACA others(103): Show CGCCCACAGCTCTGCTTCCCACCCTCCACCTCACACCACCATGGGCACTT GGTCCCTTCTCTCAGGGCCCTTCTAGATCTTGGCGTCTGGGCCTCAAAGC ACAACACAGGT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0033 a0033	a0033c0043 a0033c0043	a0033c0043t0001 a0033c0043t0001	a0033c0043t0001g0176 a0033c0043t0001g0176	1	308	0.0032	-110	c.-59 others(19): Show c.-59-25108_-59-24999del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANO2_chr12_5557655_5950259	5902720	GGGGAGGG others(103): Show GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGA AGGGAGGGGAGGAGAGGGGAGGGGATGGGATGGGATGGGAAGGGAGGGGA GGGGATGGGAT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp1 NA20129.hp1 others(1): Show HG02809.hp1 HG02818.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0059 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0059 a0002c0003t0002g0160	4	160	0.0250	-110	c.534 others(19): Show c.534+18210_534+18319del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5902752	GGAGGGGA others(103): Show GGAGGGGAGGGGAGGGGAAGGGAGGGGAGGAGAGGGGAGGGGATGGGATG GGATGGGAAGGGAGGGGAGGGGATGGGATGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0154 a0002c0006t0002g0154	1	160	0.0063	-110	c.534 others(19): Show c.534+18178_534+18287del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO9_chr11_412938_447011	436751	AGGGGGTA others(103): Show AGGGGGTAAGCAGGGGGTGAGCAGGGGGTGAGCTGGGGGTGAGCTGGGGG TGAGCAGGAGGTGAGCAGAGGGTGAGCAGGGAGTGAGCTGGGGGTGAGCG GGGAGTGAGCT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	284	0.0035	-110	c.7-2 others(13): Show c.7-2763_7-2654del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22			chr11	TogoVar
ARHGEF7_chr13_111110310_111310732	111221180	TATATATG others(103): Show TATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTA TATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATA TATCTATATAG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0265 a0001c0001t0015g0267 a0001c0001t0015g0265 a0001c0001t0015g0267	2	272	0.0074	-110	c.670 others(17): Show c.670+3307_670+3416del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ASTN1_chr1_176856067_177169712	177149643	TATATATA others(103): Show TATATATACACTGTATATATATAGTAAATATATATACACTGTATATACAT AGTAAATATATATACACTGTATATACATAGTAAATATATATACACTGTAT ATACATAGTAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp2 HG02055.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0002 a0002c0007t0016 a0001c0003t0002 a0002c0007t0016	a0001c0003t0002g0067 a0002c0007t0016g0066 a0001c0003t0002g0067 a0002c0007t0016g0066	2	110	0.0182	-110	c.283 others(19): Show c.283+14641_283+14750del	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ATP13A2_chr1_16980958_17016928	17014323	AGAGGATT others(103): Show AGAGGATTTTTTTCACCTAGTAACAAACCCTGTTGGTAGGATTATGGCTG TCTAGACACACAGTAAAGTGGGGTTTCAGTTTTTGTTTTTGTTTTTTTTG TTTGTTTGTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0238 a0002c0009t0001g0238	1	364	0.0027	-110	c.-26 others(11): Show c.-2695_-2586del	ATP13A2	ENSG00000159363.19	transcript	ENST00000326735.13	protein_coding		2396		chr1	TogoVar
ATP9B_chr18_79064394_79383283	79357506	CCTGTGTG others(103): Show CCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCC TGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGG TCTGGAGGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp1 NA18612.hp2 others(9): Show HG01261.hp2 HG01346.hp1 NA18612.hp2 NA18949.hp1 NA18952.hp2 NA18961.hp2 NA18977.hp2 NA18990.hp2 NA18992.hp1 NA19011.hp1 NA19070.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0005 a0001c0001 a0001c0015 a0002c0005	a0001c0001t0001 a0001c0015t0001 a0002c0005t0001 a0001c0001t0001 a0001c0015t0001 a0002c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0045 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0015t0001g0132 a0002c0005t0001g0174	12	296	0.0405	-110	c.290 others(19): Show c.2904-1804_2904-1695del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357600	TCTGGGTC others(103): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC TGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp2 others(31): Show HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01106.hp1 HG01106.hp2 HG01261.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02129.hp1 HG02132.hp1 HG02258.hp1 HG02615.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG03041.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03927.hp2 HG06807.hp1 NA18940.hp1 NA18952.hp1 NA18955.hp2 NA18982.hp2 NA19007.hp1 NA19054.hp1 NA19074.hp1 NA19085.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0016	a0001c0003 a0001c0004 a0001c0006 others(3): Show a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0006c0012 a0016c0027	a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 others(6): Show a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0006t0003 a0002c0002t0003 a0002c0002t0009 a0002c0002t0014 a0006c0012t0003 a0016c0027t0003	a0001c0003t0003g0112 a0001c0003t0003g0120 a0001c0003t0003g0126 others(31): Show a0001c0003t0003g0112 a0001c0003t0003g0120 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0152 a0001c0004t0001g0016 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0094 a0001c0004t0003g0096 a0001c0004t0003g0098 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0119 a0001c0006t0003g0267 a0001c0006t0003g0268 a0002c0002t0003g0199 a0002c0002t0009g0250 a0002c0002t0009g0254 a0002c0002t0014g0175 a0006c0012t0003g0198 a0006c0012t0003g0219 a0016c0027t0003g0139	34	289	0.1176	-110	c.290 others(19): Show c.2904-1736_2904-1627del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357618	TGTGTGAG others(103): Show TGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTG TGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTC TGGAGGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02258.hp2 others(9): Show HG01168.hp2 HG01169.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03579.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0013 others(2): Show a0001c0004 a0001c0006 a0001c0013 a0001c0024 a0002c0002	a0001c0004t0004 a0001c0006t0004 a0001c0013t0004 others(2): Show a0001c0004t0004 a0001c0006t0004 a0001c0013t0004 a0001c0024t0004 a0002c0002t0004	a0001c0004t0004g0116 a0001c0004t0004g0118 a0001c0006t0004g0273 others(9): Show a0001c0004t0004g0116 a0001c0004t0004g0118 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0024t0004g0058 a0002c0002t0004g0252 a0002c0002t0004g0258	12	296	0.0405	-110	c.290 others(19): Show c.2904-1726_2904-1617del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358144	CCTATGTG others(103): Show CCTATGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCC TGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGG TCTGGAGGTGT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18961.hp2 NA18992.hp1 HG01346.hp1 NA18961.hp2 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0005 a0001c0001 a0001c0015 a0002c0005	a0001c0001t0001 a0001c0015t0001 a0002c0005t0001 a0001c0001t0001 a0001c0015t0001 a0002c0005t0001	a0001c0001t0001g0086 a0001c0015t0001g0132 a0002c0005t0001g0174 a0001c0001t0001g0086 a0001c0015t0001g0132 a0002c0005t0001g0174	3	287	0.0105	-110	c.290 others(19): Show c.2904-1207_2904-1098del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358300	CCTGTGTG others(103): Show CCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCC TGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGG TCTGGAGGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18612.hp2 NA18949.hp1 others(6): Show HG01261.hp2 NA18612.hp2 NA18949.hp1 NA18952.hp2 NA18977.hp2 NA18990.hp2 NA19011.hp1 NA19070.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088	9	282	0.0319	-110	c.290 others(18): Show c.2904-1038_2904-929del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C12orf56_chr12_64259762_64395758	64366724	TTATATAT others(103): Show TTATATATAACATACAGTTTATATATATTATATATAACATACAGTTTATA TATATTATATATAACATACAGTTTATATATATTATATATAACATACAGTT TATATATATTA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0015 a0002c0005t0015	a0002c0005t0015g0124 a0002c0005t0015g0124	1	300	0.0033	-110	c.253 others(19): Show c.253-13778_253-13669del	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C2CD3_chr11_74007718_74176002	74117048	GTATATAT others(103): Show GTATATATATATGAATATATATATATGAATATATATATGAATATATATAT ATGAATATATATATATGAATATATATATATGAATATATATATATGAATAT ATATATATGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG02145.hp1 others(20): Show HG01099.hp1 HG01106.hp2 HG02145.hp1 HG02145.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 NA18957.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0003 a0005 a0007 others(3): Show a0003 a0005 a0007 a0015 a0026 a0029	a0003c0041 a0005c0006 a0005c0027 others(4): Show a0003c0041 a0005c0006 a0005c0027 a0007c0009 a0015c0019 a0026c0047 a0029c0038	a0003c0041t0001 a0005c0006t0001 a0005c0027t0001 others(4): Show a0003c0041t0001 a0005c0006t0001 a0005c0027t0001 a0007c0009t0002 a0015c0019t0001 a0026c0047t0002 a0029c0038t0001	a0003c0041t0001g0297 a0005c0006t0001g0006 a0005c0006t0001g0007 others(20): Show a0003c0041t0001g0297 a0005c0006t0001g0006 a0005c0006t0001g0007 a0005c0006t0001g0014 a0005c0006t0001g0015 a0005c0006t0001g0020 a0005c0006t0001g0022 a0005c0006t0001g0023 a0005c0006t0001g0024 a0005c0006t0001g0026 a0005c0006t0001g0027 a0005c0027t0001g0012 a0007c0009t0002g0311 a0007c0009t0002g0312 a0007c0009t0002g0313 a0007c0009t0002g0314 a0007c0009t0002g0315 a0007c0009t0002g0316 a0007c0009t0002g0317 a0015c0019t0001g0025 a0015c0019t0001g0028 a0026c0047t0002g0310 a0029c0038t0001g0293	23	160	0.1438	-110	c.152 others(19): Show c.1520+1070_1520+1179del	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C7orf50_chr7_992006_1143247	1031621	CAGAGACC others(103): Show CAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAG GGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTG GTCCGGGGCGG	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0083 a0001c0001t0006g0083	1	308	0.0032	-110	c.130 others(19): Show c.130-21588_130-21479del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116366	AGGGACAG others(103): Show AGGGACAGCTTCCATCACCGACGCCCACGCAGGATGATGACATGACTGCA GCTCTACGGACCGGCTTCCATCACCGACGTCCACGCAGGATGATGACATC ACTGCAGTTCT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03453.hp2 HG03490.hp2 others(4): Show HG01358.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG04228.hp2 NA18986.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0004 a0001c0001t0008 a0004c0005t0008 a0001c0001t0004 a0001c0001t0008 a0004c0005t0008	a0001c0001t0004g0199 a0001c0001t0008g0166 a0001c0001t0008g0168 others(4): Show a0001c0001t0004g0199 a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0171 a0004c0005t0008g0167	7	324	0.0216	-110	c.129 others(19): Show c.129+10781_129+10890del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318483	AGGGAAAG others(103): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG00733.hp2 others(14): Show HG00597.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01358.hp1 HG02083.hp2 HG02155.hp2 HG02293.hp1 HG02895.hp2 NA18939.hp2 NA18971.hp2 NA19084.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0002t0002 a0001c0001t0002 a0001c0001t0011 a0001c0002t0002	a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0170 others(14): Show a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0185 a0001c0001t0002g0238 a0001c0001t0002g0251 a0001c0001t0002g0272 a0001c0001t0002g0279 a0001c0001t0002g0311 a0001c0001t0011g0146 a0001c0002t0002g0069 a0001c0002t0002g0195 a0001c0002t0002g0219 a0001c0002t0002g0255 a0001c0002t0002g0275 a0001c0002t0002g0304	17	213	0.0798	-110	c.835 others(17): Show c.835-7600_835-7491del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CACNG7_chr19_53904278_53948950	53922207	GTCTGGTA others(103): Show GTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTC CCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTATTGGTGGAGT TGTCCCCAGGT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	360	0.0028	-110	c.424 others(17): Show c.424+6703_424+6812del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CAMK2B_chr7_44212154_44330594	44227508	GGTGTGGG others(103): Show GGTGTGGGGGACAGAGGGGGATATGGGGGACAGAGGGAGTGTAGGGGACA GAGGAGGGTCTGGGGGGCAGAGGGAGAGTGTGGGGGACAGGGGGTGTGGG GGACAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0217 a0002c0012t0001g0217	1	235	0.0043	-110	c.146 others(17): Show c.1469-974_1469-865del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAPN15_chr16_522712_559636	544342	TTTCTCGG others(103): Show TTTCTCGGTGTGGCCTCAGGGCTCTGGTGGCTTTGACCGAGGCCCCGGGG GACAGAATGCAGCTTCCTGCTCCTCACTTTTCCTAAGAAAGGGGCCGCCT CCCAGGACTGG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0001 a0003c0040t0001	a0003c0040t0001g0301 a0003c0040t0001g0301	1	408	0.0025	-110	c.-22 others(17): Show c.-22-2474_-22-2365del	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13			chr16	TogoVar
CAPZA1_chr1_112614832_112676616	112640391	GCCCCGTC others(103): Show GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCAGTCCGGGAGGGAGGTGG GGGGGTCAGCC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp1 HG02723.hp2 HG00642.hp2 HG01169.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0009g0307 a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0009g0307	3	366	0.0082	-110	c.40- others(15): Show c.40-6776_40-6667del	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CASP5_chr11_104989243_105028168	105009732	TATATATA others(103): Show TATATATATATATATATATATATATATACACACACACACGTATATATATA TATATACACACGTATATATATATATACACACACATATATATATACACATA TATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0014 a0014	a0014c0028 a0014c0028	a0014c0028t0001 a0014c0028t0001	a0014c0028t0001g0097 a0014c0028t0001g0097	1	393	0.0025	-110	c.8-8 others(11): Show c.8-862_8-753del	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CCDC102B_chr18_68793080_69060189	68956459	TTTTATAT others(103): Show TTTTATATATATATTATATATATATAATATATATATAAAATATATAATAT ATATATCGCATATTATATATATTATATATTTTATATATATAAATATTATA TATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG01891.hp1 others(14): Show HG01243.hp1 HG01496.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03704.hp1 NA18975.hp1 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0015	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0020 a0005c0008 a0015c0019	a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 a0002c0002t0001 a0003c0004t0001 a0004c0020t0010 a0005c0008t0001 a0015c0019t0001	a0001c0001t0001g0004 a0001c0001t0001g0125 a0001c0001t0001g0154 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0125 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0006g0016 a0001c0003t0001g0153 a0002c0002t0001g0018 a0002c0002t0001g0127 a0003c0004t0001g0033 a0003c0004t0001g0193 a0003c0004t0001g0202 a0004c0020t0010g0158 a0005c0008t0001g0161 a0005c0008t0001g0163 a0005c0008t0001g0164 a0005c0008t0001g0215 a0015c0019t0001g0015	17	214	0.0794	-110	c.126 others(21): Show c.1264-54471_1264-54362del	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC127_chr5_191868_223153	200867	CCAGCCAG others(103): Show CCAGCCAGCGTCTACACAGCAGGCTGCCCCCATCACAGCTAGCCAGCGTC TACACAGCAGGCTGCCCCCATCACAGCCAGCCAGCGTCTACACAGCAGGC TGCCCCCATCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02132.hp2 NA18965.hp1 others(3): Show HG02015.hp1 HG02132.hp2 NA18965.hp1 NA18983.hp2 NA18985.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0202 a0001c0002t0203 others(2): Show a0001c0002t0042 a0001c0002t0202 a0001c0002t0203 a0001c0002t0204 a0001c0002t0205	a0001c0002t0042g0044 a0001c0002t0202g0242 a0001c0002t0203g0243 others(2): Show a0001c0002t0042g0044 a0001c0002t0202g0242 a0001c0002t0203g0243 a0001c0002t0204g0244 a0001c0002t0205g0245	6	404	0.0149	-110	c.43 others(11): Show c.4320_*4429del	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	3/3	4320		chr5	TogoVar
CCKAR_chr4_26476396_26495484	26492864	TTCCATCC others(103): Show TTCCATCCATCCTTCCTTCCTTCCTTCCTTCTTTCTTCTTTCTTTCTTTT TTTTTTTTTTTCTGAGACGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGC AGTGGCATGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0039 a0001c0002t0003g0039	1	452	0.0022	-110	c.-27 others(11): Show c.-2707_-2598del	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		2381		chr4	TogoVar
CDH4_chr20_61247261_61945617	61585672	GGTGATGG others(103): Show GGTGATGGTGATGGTGATGATTGTGGTCATGTGGAGGATGGTGGTGATGA TGGTGATGTGGTGATGGGGAGGATGATGGTGATGAAGATGATGATGATGG TGATGGTGATT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(66): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0006 others(19): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0020 a0001c0021 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0014 a0002c0015 a0002c0016 a0002c0024 a0002c0026 a0003c0018 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0037 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0016 a0001c0003t0029 a0001c0003t0035 a0001c0003t0038 a0001c0006t0006 a0001c0006t0020 a0001c0006t0026 a0001c0007t0009 a0001c0007t0047 a0001c0010t0008 a0001c0011t0005 a0001c0012t0001 a0001c0013t0006 a0001c0020t0006 a0001c0021t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0002t0036 a0002c0004t0001 a0002c0004t0002 a0002c0004t0012 a0002c0004t0021 a0002c0004t0025 a0002c0005t0002 a0002c0005t0004 a0002c0005t0005 a0002c0005t0007 a0002c0005t0019 a0002c0008t0001 a0002c0008t0003 a0002c0008t0024 a0002c0009t0031 a0002c0014t0001 a0002c0015t0007 a0002c0016t0003 a0002c0024t0015 a0002c0026t0010 a0003c0018t0043 a0005c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0049 others(66): Show a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0008g0021 a0001c0001t0013g0106 a0001c0001t0016g0064 a0001c0001t0017g0030 a0001c0001t0017g0039 a0001c0001t0027g0019 a0001c0001t0028g0092 a0001c0001t0030g0089 a0001c0001t0037g0055 a0001c0003t0001g0037 a0001c0003t0002g0002 a0001c0003t0004g0054 a0001c0003t0016g0066 a0001c0003t0029g0040 a0001c0003t0035g0043 a0001c0003t0038g0081 a0001c0006t0006g0036 a0001c0006t0020g0004 a0001c0006t0026g0034 a0001c0007t0009g0017 a0001c0007t0047g0065 a0001c0010t0008g0045 a0001c0011t0005g0003 a0001c0012t0001g0008 a0001c0013t0006g0035 a0001c0020t0006g0093 a0001c0021t0005g0047 a0002c0002t0003g0069 a0002c0002t0004g0014 a0002c0002t0011g0082 a0002c0002t0012g0020 a0002c0002t0013g0061 a0002c0002t0014g0072 a0002c0002t0014g0074 a0002c0002t0022g0105 a0002c0002t0023g0102 a0002c0002t0036g0057 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0033 a0002c0004t0002g0001 a0002c0004t0002g0079 a0002c0004t0012g0016 a0002c0004t0021g0050 a0002c0004t0025g0098 a0002c0005t0002g0060 a0002c0005t0004g0048 a0002c0005t0005g0103 a0002c0005t0007g0099 a0002c0005t0019g0056 a0002c0008t0001g0028 a0002c0008t0003g0041 a0002c0008t0024g0024 a0002c0009t0031g0009 a0002c0014t0001g0090 a0002c0015t0007g0025 a0002c0016t0003g0042 a0002c0024t0015g0051 a0002c0026t0010g0078 a0003c0018t0043g0052 a0005c0019t0001g0018	69	106	0.6509	-110	c.170 others(21): Show c.170-157860_170-157751del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65782010	CTTTCTCT others(103): Show CTTTCTCTCTCTCTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0034 a0001c0006t0034	a0001c0006t0034g0076 a0001c0006t0034g0076	1	204	0.0049	-110	c.210 others(19): Show c.210+18960_210+19069del	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDK11B_chr1_1630225_1664004	1651428	CTCTGAAC others(103): Show CTCTGAACGGTCTGTGACACACGCATGCTTTCAGCTAGAGTACTCTATAG CCCCTCTGAATGGTCTGTGACACATGCACGCTTTCAGCTAGAGTACTCTC TCTATAGCCCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0379 a0001c0006t0002g0379	1	444	0.0023	-110	c.355 others(16): Show c.355+901_355+1010del	CDK11B	ENSG00000248333.9	transcript	ENST00000341832.11	protein_coding	4/19			chr1	TogoVar
CHRDL1_chrX_110668856_110800817	110689476	CTATATAT others(103): Show CTATATATCTATATCTCTATATATCTATATATCTATATCTCTATATATCT ATCTATATATCTCTATATCTCTATATATCTATATATCTATATATATCTAT ATATCTATATA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0041 a0001c0002t0039g0041	1	161	0.0062	-110	c.779 others(15): Show c.779-783_779-674del	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHST8_chr19_33616953_33778506	33757412	AAGAAAGA others(103): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0214 a0001c0003t0003g0214	1	252	0.0040	-110	c.131 others(19): Show c.131-13917_131-13808del	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLN8_chr8_1758789_1791570	1763493	CCCGCCGC others(103): Show CCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCC CCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGC CCCCCGCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0088 a0001c0007t0088	a0001c0007t0088g0119 a0001c0007t0088g0119	1	412	0.0024	-110	c.-51 others(9): Show c.-515_-406del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		295		chr8	TogoVar
CLPX_chr15_65143219_65190342	65145984	AATATATA others(103): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATATAAATATATATATAAATA TATATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG03453.hp1 NA18522.hp1 others(1): Show HG00280.hp2 HG03453.hp1 NA18522.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0114 a0001c0001t0001g0116	4	184	0.0217	-110	c.47 others(11): Show c.4729_*4838del	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2234		chr15	TogoVar
CLPX_chr15_65143219_65190342	65145996	AATATATA others(103): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATATAAATATATATATAAATA TATATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG03098.hp1 others(1): Show HG02109.hp2 HG02809.hp2 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 others(1): Show a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027	4	182	0.0220	-110	c.47 others(11): Show c.4717_*4826del	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2222		chr15	TogoVar
CNST_chr1_246561456_246673595	246620149	ACTACAGG others(103): Show ACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCTCTGG GCACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCT CTGGGAACACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(28): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02293.hp1 HG02602.hp2 HG04228.hp1 NA18950.hp2 NA18954.hp2 NA18962.hp1 NA18964.hp2 NA18993.hp2 NA19087.hp1 NA19089.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 others(27): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0309 a0001c0001t0002g0003 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0003g0057 a0001c0001t0003g0280 a0001c0001t0019g0106	31	303	0.1023	-110	c.380 others(17): Show c.380-1259_380-1150del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	148366058	ATGCATGT others(103): Show ATGCATGTATGCATGTATGTGTGTGCATGTATACATGTATGTGTATGCAT GTATGCATGTATGTGTATGCATGTATGCATGTATGTGTATGCATGTATGC ATGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20129.hp1 HG02717.hp2 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0008 a0001c0006t0009 a0001c0005t0008 a0001c0006t0009	a0001c0005t0008g0005 a0001c0006t0009g0028 a0001c0005t0008g0005 a0001c0006t0009g0028	2	38	0.0526	-110	c.347 others(21): Show c.3476-17581_3476-17472del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF2_chr14_92116969_92177145	92173311	ATATATAT others(103): Show ATATATATACATATATATATACGTATATATATATGTATATATATATACGT ATATATATATGTATATATATACGTATATATATATATACACATATGTATAT ATATATATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03209.hp2 NA19240.hp2 HG02970.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0048 a0001c0001t0003 a0001c0001t0004 a0001c0001t0048	a0001c0001t0003g0128 a0001c0001t0004g0133 a0001c0001t0048g0132 a0001c0001t0003g0128 a0001c0001t0004g0133 a0001c0001t0048g0132	3	385	0.0078	-110	c.11 others(13): Show c.11568_*11677del	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1167		chr14	TogoVar
CSK_chr15_74777080_74808197	74794108	CCACAGCT others(103): Show CCACAGCTTACAGTCCACAGGAGGCAGGGGCAAGGGGTCCTCACCACCCC CACCCTCACAGCTTACAGTCCACAGGAGGCAGGGGCAAGGGGTCCCCGCC ACCCCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18941.hp2 HG02523.hp1 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0005 a0001c0002t0001 a0001c0005t0005	a0001c0002t0001g0157 a0001c0005t0005g0059 a0001c0002t0001g0157 a0001c0005t0005g0059	2	363	0.0055	-110	c.-65 others(17): Show c.-65-4085_-65-3976del	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar

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