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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ZNF511_chr10_133303914_133318161	133317977	ACACCTCC others(126): Show ACACCTCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCAG ACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAGAGATGGAAAGA CCACACCCCCCCCCAGACACAGAGATGGAAAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	-133	c.51 others(11): Show c.5112_*5244del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4817		chr10	TogoVar
ZNF587_chr19_57844859_57870117	57863368	GGCCTCCC others(126): Show GGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGCACCTGGCCTG TATTCTTTTCTTTAGTAGAGACGGGGTTTTACTGTATTTGCCAGGATGGT CTCGATCTCCAGACCTCGTGATCCGCCCGCCTTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0001 a0001c0001t0154g0001	1	454	0.0022	-133	c.32 others(11): Show c.3246_*3378del		ZNF587	ENSG00000198466.12	transcript	ENST00000339656.8	protein_coding	3/3				3246	INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC6_chr16_16144565_16228494	16172288	ATAAATGA others(125): Show ATAAATGAGTGAGTGGGATGGATAAATGGGTATGAGTGGGTGGGATGGCT AAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGCTAAATGAGTGGGTGGGATGGC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02922.hp2 others(2): Show HG02258.hp1 HG02630.hp2 HG02922.hp2 HG02965.hp1 HG06807.hp1	a0001 a0014 a0001 a0014	a0001c0004 a0014c0018 a0001c0004 a0014c0018	a0001c0004t0001 a0014c0018t0001 a0001c0004t0001 a0014c0018t0001	a0001c0004t0001g0065 a0014c0018t0001g0249 a0014c0018t0001g0250 others(2): Show a0001c0004t0001g0065 a0014c0018t0001g0249 a0014c0018t0001g0250 a0014c0018t0001g0251 a0014c0018t0001g0252	5	357	0.0140	-132	c.278 others(17): Show c.2787+864_2787+995del		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABR_chr17_998519_1184981	1046240	CTAATCCG others(125): Show CTAATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGGC CCCACACCCAGCTAATTCTTGTATTTTTAGTAGAAACAGGGTTTCGCCAT GTTGGCCAGGCGGGTCTTGAACTCCCGACCTTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp1 others(19): Show HG00140.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02698.hp1 HG03669.hp1 HG03834.hp2 NA19007.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0033 a0001c0001t0087 a0001c0001t0090 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0056 a0001c0012t0055	a0001c0001t0001g0135 a0001c0001t0002g0081 a0001c0001t0002g0223 others(19): Show a0001c0001t0001g0135 a0001c0001t0002g0081 a0001c0001t0002g0223 a0001c0001t0003g0092 a0001c0001t0003g0207 a0001c0001t0004g0313 a0001c0001t0005g0266 a0001c0001t0005g0277 a0001c0001t0007g0326 a0001c0001t0033g0327 a0001c0001t0087g0311 a0001c0001t0090g0301 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0164 a0001c0002t0001g0205 a0001c0002t0002g0066 a0001c0002t0002g0100 a0001c0002t0002g0172 a0001c0002t0005g0305 a0001c0002t0056g0155 a0001c0012t0055g0235	22	337	0.0653	-132	c.179 others(19): Show c.1791+3678_1791+3809del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22						chr17	TogoVar
ABR_chr17_998519_1184981	1074057	CAGCACAC others(125): Show CAGCACACCTGCCACACGCAGGACCCCAGAATCACACAGCTCCACCCAGC CACGCCCCGAAGAGTCCAGCACACCTGCCACACGCAGGACCCCAGAATCA CACAGCTCCACCCAGCCACGCCCCGCAGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp2 HG00438.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0029 a0001c0001t0010 a0001c0001t0029	a0001c0001t0010g0298 a0001c0001t0029g0116 a0001c0001t0010g0298 a0001c0001t0029g0116	2	337	0.0059	-132	c.701 others(15): Show c.701-512_701-381del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288704	CGAGTCTC others(125): Show CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCC TGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0215 a0003c0004t0001g0215	1	295	0.0034	-132	c.47 others(11): Show c.4728_*4859del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3686		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1297619	ACGGGGCA others(125): Show ACGGGGCAGGGGCCATCCCCAGTGGCACGTGTGTGTGTGCACAGGCGCGG GGCAGGGGCCATCCCCGGTGGCACGTGTGCACGGGCACGGGGCAGGGGCC ATCCCCGGTGGCACGTGTGTGTGTGCACAGGCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG03098.hp1 others(4): Show HG02258.hp1 HG02717.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0009 a0001c0013t0001 a0001c0001t0001 a0001c0001t0009 a0001c0013t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0102 others(4): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0009g0075 a0001c0013t0001g0047	7	295	0.0237	-132	c.112 others(16): Show c.1128+71_1128+202del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23						chr1	TogoVar
ADARB2_chr10_1172313_1742525	1464177	TGCGCCGG others(125): Show TGCGCCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGA CAGTCACAGCGGGCAGTGCGCCGGAGAAGAGGGTGGACACACACTCCCCC ACACACGCGCTGGGGACAGTCACAGCAGGCAGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02970.hp1 others(3): Show HG02055.hp2 HG02145.hp1 HG02970.hp1 HG03041.hp1 NA18522.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0010 a0001c0001t0050 a0001c0003t0009 others(3): Show a0001c0001t0010 a0001c0001t0050 a0001c0003t0009 a0001c0003t0032 a0002c0002t0044 a0002c0002t0046	a0001c0001t0010g0013 a0001c0001t0050g0077 a0001c0003t0009g0046 others(3): Show a0001c0001t0010g0013 a0001c0001t0050g0077 a0001c0003t0009g0046 a0001c0003t0032g0071 a0002c0002t0044g0049 a0002c0002t0046g0056	6	106	0.0566	-132	c.101 others(19): Show c.101-85149_101-85018del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1464482	TGCTGGGG others(125): Show TGCTGGGGGCAGTCACAGCAGGCAGCGCGCCGGAGAAGAGGGTGGACACA CACTCCCCCACACACGCGCTGGGGGCAGTCACAGCGGGCAGTGCACTGGA GAAGAGGGTGGACACACACTCCCCCACACACGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02027.hp2 others(8): Show HG00438.hp1 HG00438.hp2 HG02027.hp2 HG02083.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 NA18967.hp1 NA18995.hp2 NA19011.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0014 others(3): Show a0001c0001 a0002c0002 a0002c0014 a0002c0016 a0003c0006 a0005c0015	a0001c0001t0009 a0001c0001t0055 a0001c0001t0059 others(8): Show a0001c0001t0009 a0001c0001t0055 a0001c0001t0059 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0042 a0002c0014t0008 a0002c0016t0006 a0003c0006t0067 a0005c0015t0014	a0001c0001t0009g0055 a0001c0001t0055g0089 a0001c0001t0059g0092 others(8): Show a0001c0001t0009g0055 a0001c0001t0055g0089 a0001c0001t0059g0092 a0002c0002t0004g0084 a0002c0002t0005g0012 a0002c0002t0006g0019 a0002c0002t0042g0061 a0002c0014t0008g0060 a0002c0016t0006g0010 a0003c0006t0067g0080 a0005c0015t0014g0008	11	106	0.1038	-132	c.101 others(19): Show c.101-85454_101-85323del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1541858	CAGTTCAG others(125): Show CAGTTCAGACCCTGGATCACAGCCGCCCAGACCGCACTCAGATGTAGTTC AGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCC TGGATCACAGCCGTCCAGACTCCACTCAGACGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0051 a0001c0001t0051g0051	1	106	0.0094	-132	c.101 others(21): Show c.101-162830_101-162699del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1542475	AGACCCTG others(125): Show AGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCC TGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATC ACAGCCGTCCAGACCCCACTCAGACGCAGTTCG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0046 a0001c0003t0009g0046	1	106	0.0094	-132	c.101 others(21): Show c.101-163447_101-163316del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
AGMO_chr7_15195317_15567015	15322568	ATATATAA others(125): Show ATATATAAATATATATAAATATATAAATATATATAAATATATATAAATAT ATAAATATATATAAATATATATAAATATATAAATATATATATAAATATAT ATAAATATATGTATATATAAATATATGAATATG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01109.hp2 others(20): Show HG00423.hp2 HG00544.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp2 HG02040.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02300.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG03669.hp1 NA18986.hp1 NA19009.hp1 NA19012.hp1 NA19064.hp1 NA19066.hp1 NA19078.hp1 NA19088.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0002 a0003c0006 others(1): Show a0001c0001 a0002c0002 a0003c0006 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0006t0004 a0012c0015t0006	a0001c0001t0001g0035 a0001c0001t0001g0065 a0001c0001t0001g0111 others(20): Show a0001c0001t0001g0035 a0001c0001t0001g0065 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0137 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0197 a0002c0002t0002g0172 a0003c0006t0004g0076 a0012c0015t0006g0230	23	236	0.0975	-132	c.126 others(21): Show c.1263+42814_1263+42945del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGMO_chr7_15195317_15567015	15322591	TAAATATA others(125): Show TAAATATATATAAATATATATAAATATATAAATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATGTATATATAAATA TATGAATATGTATAAATATATATAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18946.hp2 NA18951.hp1 HG00597.hp1 NA18946.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0100 a0001c0001t0002g0123 a0001c0001t0002g0131	3	236	0.0127	-132	c.126 others(21): Show c.1263+42791_1263+42922del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGMO_chr7_15195317_15567015	15322593	AATATATA others(125): Show AATATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATAAATATATATATAAATATATATAAATATATGTATATATAAATATA TGAATATGTATAAATATATATAAATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	236	0.0042	-132	c.126 others(21): Show c.1263+42789_1263+42920del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGMO_chr7_15195317_15567015	15354315	CGTGTATA others(125): Show CGTGTATATACGTACGCGTGTATATACACGCGTGTATATAGACGTGTGTA TATAGACGTGTGTATACACGTGTGTGTATACACGTGTGTGTACACACGTG TGTGTATACACACACGTGTGTGTATACACACGT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	236	0.0042	-132	c.126 others(21): Show c.1263+11067_1263+11198del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
ALDH1L2_chr12_105014790_105089458	105036088	ATATTATA others(125): Show ATATTATATATACGTATATTTATATATGTGTATATATATTATATATATAC GTATATTTATATATGTGTATATAATATATACACGTATATTTATATATGTG TATATAATATATACACGTATATTTATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0338 a0001c0001t0034g0338	1	386	0.0026	-132	c.214 others(19): Show c.2146-1822_2146-1691del		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22						chr12	TogoVar
AMFR_chr16_56356452_56430545	56397703	AATCATTT others(125): Show AATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCAT TTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAA TATATAAATGTATCATTTATAATATATAAATGT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02622.hp2 HG03098.hp2 HG00609.hp2 HG02622.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0030 a0001c0001t0002 a0001c0001t0011 a0001c0001t0030	a0001c0001t0002g0062 a0001c0001t0011g0005 a0001c0001t0030g0003 a0001c0001t0002g0062 a0001c0001t0011g0005 a0001c0001t0030g0003	3	356	0.0084	-132	c.108 others(19): Show c.1085+3898_1085+4029del		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
ANK2_chr4_113044653_113388736	113064718	TTGTTAGA others(125): Show TTGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGT AGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAA TGTTAGAAAGTTCTGTAGAACTTCTAACAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02257.hp1 HG02897.hp1 others(3): Show HG01069.hp1 HG02257.hp1 HG02897.hp1 HG02965.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0027 others(1): Show a0001c0001 a0002c0002 a0002c0027 a0002c0030	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0027t0008 a0002c0030t0001	a0001c0001t0001g0009 a0001c0001t0001g0078 a0001c0001t0003g0025 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0078 a0001c0001t0003g0025 a0002c0002t0001g0075 a0002c0027t0008g0076 a0002c0030t0001g0077	6	178	0.0337	-132	c.84+ others(17): Show c.84+15310_84+15441del		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD11_chr16_89262630_89495561	89454948	TTTCTAGG others(125): Show TTTCTAGGGTTCCTCAAGCTGCTCCCCTGGGTGCTTCTAGGGTTCCTCAA GCTGCTCCCCTGGGTGCTGTTAGGGTTCCTCAAGCTGCTCCCCTGGGTGC TTCTAGCGTTCCTCAAGCTGCTCCCCTGGGTGC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	310	0.0032	-132	c.-14 others(21): Show c.-145+35165_-145+35296del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12						chr16	TogoVar
AP1S1_chr7_101149476_101166276	101157057	CTGCCCTA others(125): Show CTGCCCTACTTTTCCTAACACACACGCACACACACACCCTTTCCGGTTCC TTCTCCTCGGAGCAGGTAAATTACTTGGCTCAGGTTTTTGCTGAGTCAAA CTTAGGAGGTCAGAGGGCAGGAAGGAAAAAGCA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	432	0.0023	-132	c.182 others(15): Show c.182+289_183-185del		AP1S1	ENSG00000106367.15	transcript	ENST00000337619.11	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
APMAP_chr20_24957925_24997751	24978972	AGATGGCA others(125): Show AGATGGCACTTTCTAACAACATCCTCAGTTGCCAGAAATACAAGGGTTAA GAAAAAACTGTTCTAGGATATCAGAAAACATCATGGTACAAAAGAAATAT AAAAATATAAATGTGCTAGTGCAAGACCTTCAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp1 HG02572.hp2 HG02965.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0022 a0001c0009t0006g0022	2	290	0.0069	-132	c.213 others(14): Show c.213-222_213-91del		APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	2/8						chr20	TogoVar
ARHGAP8_chr22_44747575_44867784	44800626	GGCGCCCC others(125): Show GGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAG CTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCGTGTGAGGGGG TGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0138 a0002c0003t0004g0138	1	390	0.0026	-132	c.80- others(15): Show c.80-1450_80-1319del		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11						chr22	TogoVar
ARHGEF10_chr8_1818926_1963641	1849894	GTGGACAC others(125): Show GTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03490.hp1 HG03492.hp2 HG00323.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0006 a0001c0009t0023 a0001c0001t0006 a0001c0009t0023	a0001c0001t0006g0098 a0001c0009t0023g0046 a0001c0009t0023g0047 a0001c0001t0006g0098 a0001c0009t0023g0046 a0001c0009t0023g0047	3	363	0.0083	-132	c.37+ others(15): Show c.37+6576_37+6707del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850026	ATGGACAC others(125): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAG GGCAAATGCTGAGGAGGGTGTGGGGCGGCCACG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02258.hp1 HG02717.hp1 others(4): Show HG01255.hp1 HG02258.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG03139.hp1 HG03209.hp2	a0001 a0009 a0024 a0001 a0009 a0024	a0001c0002 a0001c0003 a0001c0009 others(3): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0009c0029 a0024c0094	a0001c0002t0026 a0001c0003t0026 a0001c0009t0058 others(4): Show a0001c0002t0026 a0001c0003t0026 a0001c0009t0058 a0001c0012t0074 a0009c0029t0007 a0009c0029t0041 a0024c0094t0016	a0001c0002t0026g0192 a0001c0003t0026g0190 a0001c0009t0058g0200 others(4): Show a0001c0002t0026g0192 a0001c0003t0026g0190 a0001c0009t0058g0200 a0001c0012t0074g0191 a0009c0029t0007g0202 a0009c0029t0041g0201 a0024c0094t0016g0103	7	363	0.0193	-132	c.37+ others(15): Show c.37+6626_37+6757del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850110	CTGCATGG others(125): Show CTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGT GGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGGCGGCCACATGGGCAT GGATGGCAAATGCTAAGGAGGGCGTGGGGCAGT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0193 a0001c0006t0001g0193	1	363	0.0028	-132	c.37+ others(15): Show c.37+6675_37+6806del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28						chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7361999	AAGAAGAA others(125): Show AAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0010 a0001c0013t0001g0010	1	298	0.0034	-132	c.-11 others(17): Show c.-110-776_-110-645del		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7362029	GAGAAGGA others(125): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00673.hp2 others(34): Show HG00544.hp1 HG00639.hp2 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02273.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18954.hp1 NA18977.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19065.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0001c0016 a0001c0046 others(2): Show a0001c0001 a0001c0016 a0001c0046 a0003c0003 a0012c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0016t0014 a0001c0046t0001 a0003c0003t0001 a0003c0003t0012 a0003c0003t0023 a0003c0003t0026 a0003c0003t0037 a0012c0027t0005	a0001c0001t0001g0216 a0001c0001t0002g0181 a0001c0001t0002g0182 others(34): Show a0001c0001t0001g0216 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0197 a0001c0001t0002g0247 a0001c0001t0002g0254 a0001c0001t0008g0209 a0001c0001t0008g0215 a0001c0016t0014g0268 a0001c0046t0001g0205 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0180 a0003c0003t0001g0184 a0003c0003t0001g0187 a0003c0003t0001g0196 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0203 a0003c0003t0001g0206 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0012g0213 a0003c0003t0012g0217 a0003c0003t0023g0214 a0003c0003t0026g0208 a0003c0003t0037g0186 a0012c0027t0005g0025	37	298	0.1242	-132	c.-11 others(17): Show c.-110-740_-110-609del		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1802274	CACCCACC others(125): Show CACCCACCCACCCATCCCCACATCCAGGCACCCACCCACCCACCCATCCC CACATCCATCCACCCACCCATCTGCCCATCTATTTGTCTATCCATCCATG CACTCATCCTCTCACACATCCATCCACCCACCT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	390	0.0026	-132	c.106 others(16): Show c.1063+81_1063+212del		ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	11/28						chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50086625	TAGAGATC others(125): Show TAGAGATCTATATTTATTATATATAATAAAATAATAGAGATCTATATTTA TTATATATAATAAAATAATAGAGATCTATATTATTATATATAATAAAATA ATATAGAGATCTATATTTATTATATATAAAATA	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	254	0.0039	-132	c.29- others(17): Show c.29-12572_29-12441del		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
B3GALT1_chr2_167288001_167879045	167875982	TACACGTA others(125): Show TACACGTATATATATATATACGTATATATATATATACGTATATATATATA TACGTATATATATATATATACGTATATATATATATGTATATATATATATA CGTATATATATATATGTATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 NA19240.hp1 HG02647.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0002 a0001c0001t0045	a0001c0001t0002g0049 a0001c0001t0045g0045 a0001c0001t0002g0049 a0001c0001t0045g0045	2	118	0.0170	-132	c.59 others(11): Show c.5963_*6094del		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding					1938		chr2	TogoVar
BAG1_chr9_33247471_33269708	33251886	GAGAAGGG others(125): Show GAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCT CCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA AGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01243.hp1 HG01884.hp1 others(8): Show HG00280.hp1 HG01243.hp1 HG01884.hp1 HG02622.hp2 HG02895.hp2 HG03130.hp2 NA18906.hp1 NA18968.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0003t0008 a0001c0009t0004	a0001c0001t0001g0111 a0001c0001t0004g0004 a0001c0001t0021g0055 others(6): Show a0001c0001t0001g0111 a0001c0001t0004g0004 a0001c0001t0021g0055 a0001c0001t0022g0052 a0001c0001t0022g0053 a0001c0001t0028g0056 a0001c0003t0008g0023 a0001c0003t0008g0112 a0001c0009t0004g0115	11	348	0.0316	-132	c.32 others(11): Show c.3201_*3332del		BAG1	ENSG00000107262.26	transcript	ENST00000634734.3	protein_coding					584		chr9	TogoVar
BRD9_chr5_858741_897801	897345	TCATTCAG others(125): Show TCATTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03579.hp2 NA19240.hp1 HG01243.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0003 a0001c0001t0007 a0001c0004t0003	a0001c0001t0007g0181 a0001c0004t0003g0039 a0001c0001t0007g0181 a0001c0004t0003g0039	3	364	0.0082	-132	c.-48 others(11): Show c.-4820_-4689del		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding					4545		chr5	TogoVar
BRD9_chr5_858741_897801	897348	TTCAGTGT others(125): Show TTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	364	0.0028	-132	c.-48 others(11): Show c.-4823_-4692del		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding					4548		chr5	TogoVar
C1QTNF12_chr1_1237453_1251722	1248749	CACGGGCA others(125): Show CACGGGCAGCCCTGGGAGGCTAGACCGAGGGAGGCTGGGCCTCCCACTCT GCCCTACAGGCAGGAAAACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGG CTGGACTTCCCACTCTACCCTACAGGCAGGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 NA18522.hp1 HG04184.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0039 a0001c0001t0001g0041	2	328	0.0061	-132	c.-21 others(11): Show c.-2191_-2060del		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding					2028		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1248971	GCGAGGGA others(125): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG00738.hp2 others(16): Show HG00423.hp2 HG00673.hp2 HG00738.hp2 HG01516.hp2 HG01517.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02602.hp2 HG02630.hp2 HG02723.hp2 HG04115.hp2 NA18612.hp2 NA18952.hp1 NA18960.hp2 NA19007.hp1 NA19011.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0004t0004	a0001c0001t0001g0005 a0001c0001t0001g0109 a0002c0002t0001g0007 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0109 a0002c0002t0001g0007 a0002c0002t0001g0044 a0002c0002t0001g0089 a0002c0002t0002g0003 a0003c0004t0004g0115	19	328	0.0579	-132	c.-24 others(11): Show c.-2413_-2282del		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding					2250		chr1	TogoVar
C7orf50_chr7_992006_1143247	1039421	GGGGTCAG others(125): Show GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0165 a0001c0001t0025g0165	1	326	0.0031	-132	c.130 others(19): Show c.130-29410_130-29279del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CACNA1B_chr9_137872782_138129619	138113469	AGGAGGTG others(125): Show AGGAGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGCGCAGGAAGG TGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCA ACTGCATCTTGCGGGAGACGTGAGGGAGTGCCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0005 a0001c0044t0005	a0001c0044t0005g0239 a0001c0044t0005g0239	1	248	0.0040	-132	c.553 others(17): Show c.5537-760_5537-629del		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	40/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138113750	TCCTTGTG others(125): Show TCCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTCCATCTTG TGGGAGACGTGAGGGAGCGCCGGGAGGTGCCCAACTCCATCTTGTGGGAG ACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00673.hp1 others(24): Show HG00438.hp1 HG00597.hp1 HG00673.hp1 HG01943.hp1 HG02040.hp2 HG02074.hp2 HG02647.hp2 HG02965.hp1 HG02970.hp1 HG03209.hp2 NA18747.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18980.hp1 NA18983.hp2 NA18995.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19080.hp2 NA19085.hp1 NA19240.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0021	a0001c0002 a0001c0003 a0001c0005 others(6): Show a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0053 a0002c0010 a0004c0023 a0009c0021 a0021c0027	a0001c0002t0004 a0001c0002t0011 a0001c0003t0043 others(8): Show a0001c0002t0004 a0001c0002t0011 a0001c0003t0043 a0001c0005t0004 a0001c0012t0002 a0001c0012t0004 a0001c0053t0028 a0002c0010t0010 a0004c0023t0042 a0009c0021t0010 a0021c0027t0024	a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 others(24): Show a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 a0001c0002t0011g0052 a0001c0003t0043g0127 a0001c0005t0004g0007 a0001c0005t0004g0028 a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0087 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0091 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0005t0004g0184 a0001c0012t0002g0050 a0001c0012t0004g0040 a0001c0053t0028g0105 a0002c0010t0010g0204 a0004c0023t0042g0076 a0009c0021t0010g0004 a0021c0027t0024g0149	27	248	0.1089	-132	c.553 others(17): Show c.5537-540_5537-409del		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	40/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138113867	GAGGTGCC others(125): Show GAGGTGCCCAACTCCACCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTG CCCAACTCCATCTTGTGGGAGACGTGAGGGAGCGCCGGGAGGTGCCCAAC TCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0011 a0005c0024t0011	a0005c0024t0011g0160 a0005c0024t0011g0162 a0005c0024t0011g0160 a0005c0024t0011g0162	2	248	0.0081	-132	c.553 others(17): Show c.5537-496_5537-365del		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	40/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNG7_chr19_53904278_53948950	53921098	TCCCCAGG others(125): Show TCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA GTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTG GAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp1 HG03516.hp1 HG02451.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0007g0067 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0007g0067	3	364	0.0082	-132	c.424 others(17): Show c.424+5601_424+5732del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMSAP2_chr1_200733893_200865704	200816782	ATATGTGT others(125): Show ATATGTGTGTACACACACACGCGTGTATATATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACACGCGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	366	0.0027	-132	c.645 others(17): Show c.645+1164_645+1295del		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC73_chr11_32597721_32799662	32755660	TATATATG others(125): Show TATATATGTGTATATATATATCTCCATATATATGTGTATATATATATCTC CATATATATGTGTATATATATATCTCCATATATATGTGTATATATATATA TCTCCATATATATGTGTATATATATATATCTCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0153	1	312	0.0032	-132	c.135 others(17): Show c.135+4317_135+4448del		CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17						chr11	TogoVar
CDH7_chr18_65746012_65895337	65782016	CTCTCTCT others(125): Show CTCTCTCTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0008 a0001c0013t0008	a0001c0013t0008g0116 a0001c0013t0008g0116	1	208	0.0048	-132	c.210 others(19): Show c.210+18968_210+19099del		CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CEL_chr9_133056981_133076861	133071240	GCCCCCGT others(125): Show GCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC CCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp2 NA18747.hp2 NA19240.hp2 HG02896.hp2 NA18747.hp2 NA19240.hp2	a0020 a0035 a0020 a0035	a0020c0025 a0035c0111 a0020c0025 a0035c0111	a0020c0025t0001 a0035c0111t0001 a0020c0025t0001 a0035c0111t0001	a0020c0025t0001g0001 a0035c0111t0001g0042 a0020c0025t0001g0001 a0035c0111t0001g0042	3	416	0.0072	-132	c.186 others(9): Show c.1866_1997del	p.Ala others(13): Show p.Ala623_Gly666del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1888/2381	1866/2262	622/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071368	GGCCCCCC others(125): Show GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGC CCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGG GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02451.hp1 HG02451.hp1	a0020 a0020	a0020c0238 a0020c0238	a0020c0238t0001 a0020c0238t0001	a0020c0238t0001g0090 a0020c0238t0001g0090	1	416	0.0024	-132	c.189 others(9): Show c.1894_2025del	p.Ser others(13): Show p.Ser632_Asp675del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1916/2381	1894/2262	632/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071504	CCCCCCGT others(125): Show CCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC CCCCCGTGACCCCCACGGGTGACTCCGAGACCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03491.hp2 HG03491.hp2	a0053 a0053	a0053c0080 a0053c0080	a0053c0080t0001 a0053c0080t0001	a0053c0080t0001g0031 a0053c0080t0001g0031	1	416	0.0024	-132	c.202 others(9): Show c.2026_2157del	p.Ala others(13): Show p.Ala676_Asp719del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2048/2381	2026/2262	676/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP46_chr10_132803392_132947570	132821595	TGTGTGCT others(125): Show TGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTG TGAGTGCTGATGTGTGCTGTGTGTGCTGTGTGTGCTGATGTGTGCTGTGT GCTGATGTGTGCTGACGTGTGCTGTGTGCTGAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0065 a0065	a0065c0102 a0065c0102	a0065c0102t0002 a0065c0102t0002	a0065c0102t0002g0018 a0065c0102t0002g0018	1	246	0.0041	-132	c.711 others(19): Show c.7118-6813_7118-6682del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914325	GCCCGAGG others(125): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC CCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02572.hp1 HG03834.hp2 others(1): Show HG01952.hp1 HG02572.hp1 HG03834.hp2 NA18960.hp2	a0001 a0004 a0011 others(1): Show a0001 a0004 a0011 a0059	a0001c0001 a0004c0005 a0011c0010 others(1): Show a0001c0001 a0004c0005 a0011c0010 a0059c0082	a0001c0001t0002 a0004c0005t0001 a0011c0010t0001 others(1): Show a0001c0001t0002 a0004c0005t0001 a0011c0010t0001 a0059c0082t0002	a0001c0001t0002g0076 a0004c0005t0001g0220 a0011c0010t0001g0202 others(1): Show a0001c0001t0002g0076 a0004c0005t0001g0220 a0011c0010t0001g0202 a0059c0082t0002g0100	4	246	0.0163	-132	c.212 others(19): Show c.2121-1199_2121-1068del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP99_chr4_2413955_2468002	2442881	TCACTGGG others(125): Show TCACTGGGGGTGCTGGGGGCCTTGGGGGCAGGGAGCTCACTGGGGTGCTG GGGGCCTTGGGGGGAGCCACTGGGGGTGCTGGGGGCCTTGGGGGCAGGGA GCTCACTGGGGTGCTGGGGGCCTTGGGGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02922.hp1 others(5): Show HG02109.hp2 HG02258.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03471.hp2 HG03486.hp2 HG03669.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0016 a0001c0002 a0001c0003 a0003c0016	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0003c0016t0001	a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 others(5): Show a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0003t0001g0058 a0001c0003t0001g0089 a0001c0003t0001g0097 a0001c0003t0002g0039 a0003c0016t0001g0068	8	350	0.0229	-132	c.352 others(14): Show c.352-204_352-73del		CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFHR4_chr1_196883052_196923633	196885463	AAGATATA others(125): Show AAGATATATATATTATATATTTATATTTATATATATATGATATATATGAT ATATATCATATATATATGATATATATATGATATATATCATATATATGATA TATATATATGATATATATCATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	350	0.0029	-132	c.-26 others(11): Show c.-2687_-2556del		CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding					2588		chr1	TogoVar

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