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
KNDC1_chr10_133155219_133231412	133223501	GTGCATGT others(175): Show GTGCATGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGT GCGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGT GTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTCTGTGTGTGT GTGAGAGCCCATCCAGGCATGCTCTTCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02622.hp2 HG02965.hp1 HG01123.hp2 HG02622.hp2 HG02965.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0005 a0003c0016t0005	a0003c0016t0005g0019 a0003c0016t0005g0020 a0003c0016t0005g0224 a0003c0016t0005g0019 a0003c0016t0005g0020 a0003c0016t0005g0224	3	327	0.0092	-182	c.501 others(18): Show c.5019-1155_5019-974del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	953364	GACCCCAA others(175): Show GACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCA GCCTCCTACACGTTCACACAGACACGGACCCCACACCAGCCTCCTACACG TCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACA CCCCAAACCAGCCTCCTACATATCCACACAGAC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	189	0.0053	-182	c.503 others(15): Show c.503+811_503+992del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRCOL1_chr12_132598151_132615582	132598478	CCCTCCTC others(175): Show CCCTCCTCTCCGCGCGCCCCTCCTCCTCTCCGCGCGCCCCCTCCTCTCCG CGCGTCCCCTCCTCTCCGCGCGCCCCTGCTCCTCTCCGCGCGCCCCTCCT CTCCGCTCGCCCCTCCTCTCCGCTCGCCCCTCCTCTCCGCGCGCCCCTCC TCTCCGCTCGCCCCTCCTCTCCGCGCGCCCCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02559.hp1 others(5): Show HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG02976.hp1 HG03139.hp1 HG03579.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0003 a0003c0003t0007 a0001c0004t0001 a0003c0003t0003 a0003c0003t0007	a0001c0004t0001g0009 a0003c0003t0003g0067 a0003c0003t0007g0045 a0001c0004t0001g0009 a0003c0003t0003g0067 a0003c0003t0007g0045	8	237	0.0338	-182	c.47 others(11): Show c.4742_*4923del	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4672		chr12	TogoVar
LSP1_chr11_1848084_1897263	1893027	GTGGACGG others(175): Show GTGGACGGATAAGCAGGTGAATGGATGGGTAGGTGGGTGAGTGGATGAAT GGTTGGGTGGGTGAGTGGAGGGATGGGTGAGTGGATGAATAGGGGATGGA TGAATGGATAGACGGACATATGGATGAGTGAATGAGTAAGTGGGTGGGTG GGTGGATGGATGGATTGATAGATGGATGGATGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0262 a0002c0001t0001g0262	1	358	0.0028	-182	c.12 others(11): Show c.1269_*1450del	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding		765		chr11	TogoVar
MAPK10_chr4_86005405_86365053	86145200	CAAATTTC others(175): Show CAAATTTCTATCTCTAGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGC TACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCTACAGAGCG AGACACCGTCTCAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(55): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00639.hp2 HG00741.hp2 HG01106.hp2 HG01169.hp2 HG01243.hp2 HG01934.hp2 HG02015.hp1 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp2 NA18522.hp2 NA18939.hp2 NA18949.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18994.hp1 NA19000.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19084.hp1 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0047 a0001c0001t0048 a0001c0004t0009 a0001c0005t0036 a0001c0006t0049	a0001c0001t0001g0035 a0001c0001t0001g0086 a0001c0001t0001g0160 others(55): Show a0001c0001t0001g0035 a0001c0001t0001g0086 a0001c0001t0001g0160 a0001c0001t0002g0038 a0001c0001t0002g0121 a0001c0001t0002g0164 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0063 a0001c0001t0003g0100 a0001c0001t0003g0107 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0148 a0001c0001t0003g0161 a0001c0001t0003g0168 a0001c0001t0004g0010 a0001c0001t0004g0067 a0001c0001t0004g0127 a0001c0001t0004g0149 a0001c0001t0005g0037 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0110 a0001c0001t0005g0124 a0001c0001t0006g0098 a0001c0001t0006g0165 a0001c0001t0009g0015 a0001c0001t0009g0081 a0001c0001t0010g0034 a0001c0001t0010g0080 a0001c0001t0010g0083 a0001c0001t0013g0106 a0001c0001t0014g0122 a0001c0001t0015g0068 a0001c0001t0015g0069 a0001c0001t0015g0070 a0001c0001t0017g0007 a0001c0001t0017g0157 a0001c0001t0018g0030 a0001c0001t0018g0130 a0001c0001t0021g0014 a0001c0001t0021g0102 a0001c0001t0024g0003 a0001c0001t0025g0004 a0001c0001t0026g0093 a0001c0001t0028g0018 a0001c0001t0032g0012 a0001c0001t0033g0150 a0001c0001t0039g0108 a0001c0001t0040g0088 a0001c0001t0043g0043 a0001c0001t0047g0013 a0001c0001t0048g0074 a0001c0004t0009g0020 a0001c0005t0036g0133 a0001c0006t0049g0071	58	168	0.3452	-182	c.236 others(19): Show c.236+13916_236+14097del	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	4/13			chr4	TogoVar
MOBP_chr3_39462680_39508027	39468792	GTGTATAT others(175): Show GTGTATATATACATATGTGTGTGTATACATATTACATATGTGTGTATATA TACATATATACATGAGTGTGTATATATACATATATACATATGTGTGTGTA TATATACATATATACATATGAGTGTGTATATATACATATATACATTGTGT GTATATATACATATATACATATGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	260	0.0038	-182	c.-89 others(17): Show c.-89+1054_-89+1235del	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175698033	GTATGTAT others(175): Show GTATGTATACATATATATGTGTATATATGTATGTATACATATATATGTGT ATATATGTATGTATACATATATATGTGTATATATGTATGTATACATATAT ATGTGTATATATGTATGTATACATATATATGTGTATATATGTATGTATAC ATATATATGTGTATATATGTATGTATACATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	64	0.0156	-182	c.189 others(21): Show c.1897-39267_1897-39086del	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDC80_chr18_2566557_2621635	2614475	GAAAGAAA others(175): Show GAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01069.hp2 others(37): Show HG00099.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG02109.hp2 HG02572.hp1 HG02630.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03453.hp2 HG03471.hp1 HG03710.hp1 HG04228.hp2 HG06807.hp1 NA18941.hp1 NA18943.hp2 NA18954.hp2 NA18966.hp2 NA18977.hp1 NA18979.hp2 NA18985.hp1 NA18990.hp1 NA19006.hp1 NA19011.hp1 NA19030.hp1 NA19056.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(33): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0191 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302	40	400	0.1000	-182	c.179 others(19): Show c.1792-1958_1792-1777del	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEU4_chr2_241804193_241822413	241805864	TCCCCCCT others(175): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	294	0.0034	-182	c.-34 others(11): Show c.-3413_-3232del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3328		chr2	TogoVar
NME7_chr1_169127531_169372797	169342597	CATATATA others(175): Show CATATATATAGTATATATATATACAAGTACATATATATAGTATATATATA TACAAGTACATATATATATAGTATATATATATACAAGTACATATATATAG TATATATATATACAAGTACATATATATATAGTATATATATATACAAGTAC ATATATATAGTATATATATATACAAGTACATAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	211	0.0047	-182	c.4-1 others(15): Show c.4-18279_4-18098del	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NSG1_chr4_4382102_4424058	4402372	TTTTTTTT others(175): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGTCCGCCACTACACCCGGCTAA	T T	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18985.hp1 NA18991.hp1 others(2): Show NA18966.hp2 NA18985.hp1 NA18991.hp1 NA19084.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0013 a0001c0001t0007g0060 a0001c0001t0007g0061	5	392	0.0128	-182	c.247 others(17): Show c.247-7195_247-7014del	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
NTM_chr11_131365615_132341822	131789454	GAAGAAGA others(175): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	86	0.0116	-182	c.83- others(19): Show c.83-122077_83-121896del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OSBPL2_chr20_62233521_62301183	62278561	CTGTTGCC others(175): Show CTGTTGCCAACGTTAGGCCGAGTGCGATGTCATGTTTGTGTGTGTGTCTG TTGCCAATGTTAGGCCAAGTGCGATGTCATGTTTGTGTGTGTGTTGCCAA CGTTAGGCCAAGTGCAATGTCATGTTTGTGTGTGTGTGTCTGTTGCCAAC ATTAGGCCAAGTGCGATGTCATGTTTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp2 HG01884.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0184 a0001c0001t0001g0185	2	346	0.0058	-182	c.492 others(15): Show c.492-549_492-368del	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
PACRG_chr6_162722974_163320500	163291127	CCCCTCTG others(175): Show CCCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGACCCT CTGCCTGCCCGAGCTGGCCTGCGGGTCACCCTGCAAGATGTCCCCTCTGC CCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGACCCCTCTGCCCGC CAGAGCTGGCCTGCGGGTCACCCTGCAAGATGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	130	0.0077	-182	c.614 others(19): Show c.614-23651_614-23470del	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PEX5_chr12_7184686_7216459	7196841	ATAATTAT others(175): Show ATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATATAA TGTAATAATTATATATGTCACATATAATGTAATAATTATATGTCACATAT AATGTAATAATTATATGTCACATATAATGTAATAATTATATATGTCACAT ATAATGTAATAATTATATATGTCACATATAATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	426	0.0023	-182	c.449 others(17): Show c.449-2141_449-1960del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTGES3L_chr17_42963103_42985080	42967167	TTATATAA others(175): Show TTATATAATATATAATATAATATATAAAATATATATTATATAATATATAA TATAATATATAAAATATATATTATATAATATATAATATAATATATAAAAT ATATATTATATAATATATAATATAATATATAAAATATATATTATATAATA TATAATATAATATATAAAATATATATTATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02886.hp1 others(4): Show HG02647.hp1 HG02723.hp1 HG02886.hp1 HG03209.hp2 HG03654.hp2 HG04204.hp2 NA19030.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0017 a0001c0001t0001g0169 a0001c0001t0001g0170 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0184 a0007c0007t0001g0211	7	166	0.0422	-182	c.17 others(11): Show c.1799_*1980del	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		935		chr17	TogoVar
PTPRH_chr19_55176247_55214501	55208021	TCTCGACC others(175): Show TCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAG TCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGG GCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTC GACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG03130.hp2 others(3): Show HG02622.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 NA19043.hp1	a0006 a0007 a0010 others(2): Show a0006 a0007 a0010 a0014 a0036	a0006c0058 a0007c0011 a0010c0032 others(2): Show a0006c0058 a0007c0011 a0010c0032 a0014c0035 a0036c0080	a0006c0058t0001 a0007c0011t0001 a0010c0032t0001 others(2): Show a0006c0058t0001 a0007c0011t0001 a0010c0032t0001 a0014c0035t0001 a0036c0080t0001	a0006c0058t0001g0146 a0007c0011t0001g0021 a0010c0032t0001g0144 others(2): Show a0006c0058t0001g0146 a0007c0011t0001g0021 a0010c0032t0001g0144 a0014c0035t0001g0145 a0036c0080t0001g0147	6	376	0.0160	-182	c.52- others(14): Show c.52-1004_52-823del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PVALB_chr22_36795703_36822035	36800146	TCTACCCA others(175): Show TCTACCCACCCATCCATCCATCCATTCATCCACCATCCATCCATCCCCCC ACCCATCCACCCATTCATCCATCGTCCATTCACCCACCCATCCATCCATT TACCCATCTGCCCACCCATCTACTCACCCATCCATCTATCCATCTATCCA CCCACCCATCCACCCACCCATTCATCCACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02132.hp1 HG04228.hp2 others(1): Show HG00639.hp1 HG02132.hp1 HG04228.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0007 a0001c0001t0002g0245 a0003c0003t0001g0108 a0001c0001t0001g0007 a0001c0001t0002g0245 a0003c0003t0001g0108	4	420	0.0095	-182	c.56 others(9): Show c.562_*743del	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		556		chr22	TogoVar
SCNN1D_chr1_1275436_1297025	1288210	TCTGCTCC others(175): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01952.hp1 HG02074.hp2 others(1): Show HG00673.hp1 HG01952.hp1 HG02074.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0063 others(1): Show a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0063 a0002c0002t0001g0080	4	283	0.0141	-182	c.166 others(17): Show c.1662+191_1662+372del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288228	TCTGCTCC others(175): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0143 a0003c0004t0003g0143	1	220	0.0045	-182	c.166 others(17): Show c.1662+209_1662+390del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289494	TGTCTCTG others(175): Show TGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	283	0.0035	-182	c.166 others(17): Show c.1663-760_1663-579del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289946	TCCCGTGT others(175): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02300.hp2 NA18954.hp1 others(1): Show HG00423.hp2 HG02300.hp2 NA18954.hp1 NA18960.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0002c0002t0013 a0003c0004t0003 a0002c0002t0001 a0002c0002t0013 a0003c0004t0003	a0002c0002t0001g0027 a0002c0002t0001g0077 a0002c0002t0013g0076 others(1): Show a0002c0002t0001g0027 a0002c0002t0001g0077 a0002c0002t0013g0076 a0003c0004t0003g0106	4	261	0.0153	-182	c.166 others(17): Show c.1663-303_1663-122del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMAD2_chr18_47803957_47935659	47850667	ATATATAT others(175): Show ATATATATATTATATATATAATGTATAATATATATTATATACTATATATA TATTATATATATTATGTATAATATATATTATATATTATATATATATTATA TACATTATGTATAATATATATTATATATTATATATATTATGTATAATATA TTATATATTATATATATTATGTATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0244 a0001c0001t0244	a0001c0001t0244g0008 a0001c0001t0244g0008	1	304	0.0033	-182	c.784 others(15): Show c.784+425_784+606del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SPAG16_chr2_213279464_214415501	213980234	CTCTATAT others(175): Show CTCTATATATATAGAATATATGTGTGTATATATATTCTCTATATATATAG AATATATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTGTA TATATATTCTCTATATATATAGAATATATGTGTGTATATATATTCTCTAT ATATATAGAATATATGTGTGTATATATATTCTA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0081 a0005c0005t0001g0081	1	83	0.0120	-182	c.140 others(21): Show c.1401-33715_1401-33534del	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SSH2_chr17_29620938_29935228	29895629	ATATAAAA others(175): Show ATATAAAATATATTTTATATACACATTTTATATATGAAATATATAAAATA TATTTTATATACACATTTTATATATGAAATATATAAAATATATTTTATAT ACACATTTCATATATAAAATGTATTTTATATACACATTTCATGTATAAAA TGTATTTTATATACACATTTCATGTATAAAATG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0120 a0003c0004t0004g0121 a0003c0004t0004g0120 a0003c0004t0004g0121	2	220	0.0091	-182	c.63+ others(17): Show c.63+34127_63+34308del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SYNPR_chr3_63273308_63621924	63313810	CATATATA others(175): Show CATATATATATCCATATATATATCCATATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	169	0.0059	-182	c.84+ others(17): Show c.84+35079_84+35260del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYTL3_chr6_158645054_158769871	158701175	GGTGAGCT others(175): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0199 a0004c0003t0001g0199	1	232	0.0043	-182	c.395 others(17): Show c.395-6005_395-5824del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
THEG_chr19_356747_381026	376794	TCCGTGCC others(175): Show TCCGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCC CCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0029 a0005c0009t0029	a0005c0009t0029g0125 a0005c0009t0029g0125	1	315	0.0032	-182	c.-10 others(10): Show c.-1006_-825del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		769		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747391	GCTGGGGT others(175): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp2 HG01243.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0076 a0001c0001t0021 a0001c0001t0076	a0001c0001t0021g0288 a0001c0001t0076g0287 a0001c0001t0021g0288 a0001c0001t0076g0287	2	286	0.0070	-182	c.189 others(15): Show c.189-753_189-572del	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113813703	GGGCCCTA others(175): Show GGGCCCTAACGGGCCTCTGAAAGGCCTGCAGCCAGCTCTGGTCTGTGAAC CCGCCACTGCTTGTCATTTTTATCTTATAAAATCCAGCCTCACAAGCTTG CTGTCCAGGAGAATGTGGTCTTGGCCTCTCAGGGCTGACTGGCCTTGAAC CAGTCCGGGAGGTCGGGCACGAGCCGGAGGTGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0093 a0003c0005t0093	a0003c0005t0093g0131 a0003c0005t0093g0131	1	258	0.0039	-182	c.18 others(11): Show c.1804_*1985del	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	1804	INFO_REALIGN_3_PRIME	chr13	TogoVar
TUBGCP2_chr10_133273635_133313872	133291948	TCCGTGTC others(175): Show TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA CGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCG TGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTG TCCCTCCGTGTCCCCCATGTCCCCCATGTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	269	0.0037	-182	c.121 others(17): Show c.1214+369_1214+550del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292017	ATGTCCCT others(175): Show ATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATG TCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACACTCCGTGTCCCCCGTGTCCCTCCG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	260	0.0038	-182	c.121 others(17): Show c.1214+300_1214+481del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
USP40_chr2_233470526_233571782	233567788	TTAGTTAT others(175): Show TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00639.hp2 others(6): Show HG00140.hp2 HG00280.hp2 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01516.hp1 HG01891.hp2 HG04115.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0003 a0002c0002t0001 a0004c0004t0003	a0002c0002t0001g0132 a0002c0002t0001g0133 a0004c0004t0003g0049 others(6): Show a0002c0002t0001g0132 a0002c0002t0001g0133 a0004c0004t0003g0049 a0004c0004t0003g0054 a0004c0004t0003g0055 a0004c0004t0003g0063 a0004c0004t0003g0064 a0004c0004t0003g0067 a0004c0004t0003g0071	9	198	0.0455	-182	c.-13 others(11): Show c.-1306_-1125del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1007		chr2	TogoVar
VPS53_chr17_503668_719839	642872	GAGGACAA others(175): Show GAGGACAACACTCATACTTGGAAATCGAGGACAACACTCATACTTGGCAA CCGAGGACAACACTCATACTTGGCAACCGAGGACAACTCTCATACTTGGA AAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACTTG GAAAGCGAGGACAACACTCATACTTGGAAATCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0106 a0001c0002t0106	a0001c0002t0106g0222 a0001c0002t0106g0222	1	230	0.0043	-182	c.608 others(19): Show c.608+10237_608+10418del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
YPEL1_chr22_21692536_21740794	21715659	GCAACCTC others(175): Show GCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGA GTAGCTGGGACTACTGGCACGTGCCACCACACCTAATTTTTCTTTTTCTT TTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAG GCTGGAGTGCAATGGCACGATCTTGGCTCACCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01106.hp1 others(18): Show HG00280.hp2 HG00642.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01515.hp1 HG02602.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03688.hp1 HG03927.hp2 HG06807.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0001t0029	a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0002g0059 others(16): Show a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0005g0233 a0001c0001t0005g0296 a0001c0001t0018g0046 a0001c0001t0018g0050 a0001c0001t0029g0047	21	370	0.0568	-182	c.-16 others(19): Show c.-164-4933_-164-4752del	YPEL1	ENSG00000100027.17	transcript	ENST00000339468.8	protein_coding	1/4			chr22	TogoVar
ABCG1_chr21_42214140_42302244	42283723	ACCCAGAT others(174): Show ACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGA AGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCAAAGTCCCCCCG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19240.hp1 NA20129.hp2 NA18522.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0192 a0001c0002t0002g0096 a0001c0002t0002g0322 a0001c0001t0001g0192 a0001c0002t0002g0096 a0001c0002t0002g0322	3	190	0.0158	-181	c.735 others(15): Show c.735-814_735-634del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283784	ACCCAGAT others(174): Show ACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCA AAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTG GACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCT GTCCCGCCTGGACAGTTGCGAAGTCCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03688.hp2 HG01346.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0023 a0001c0001t0013 a0001c0001t0023	a0001c0001t0013g0296 a0001c0001t0023g0025 a0001c0001t0013g0296 a0001c0001t0023g0025	2	307	0.0065	-181	c.735 others(15): Show c.735-727_735-547del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283861	CCCCCCCA others(174): Show CCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGA TGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCC CCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGT TGCGAAGTCCCCCCCGCCCAGATGAGTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	351	0.0028	-181	c.735 others(15): Show c.735-692_735-512del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283898	CCCCCCGC others(174): Show CCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACA GTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTC CCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCC CCACCTCTGTCCCGCCTGGACAGTTGCAAAGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0065 a0001c0001t0014g0065	1	347	0.0029	-181	c.735 others(15): Show c.735-656_735-476del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283982	CCCCCCCA others(174): Show CCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAG ATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCC CCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGT TGCGAAGTCCCCCCCGCCCAGATGAGTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03540.hp2 HG01891.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0104 a0001c0001t0004g0105	2	352	0.0057	-181	c.735 others(15): Show c.735-571_735-391del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAP3_chr1_1287391_1312930	1289691	CCGTGTCT others(174): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA19005.hp1 HG02074.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0001 a0001c0002t0001g0092 a0001c0001t0002g0001 a0001c0002t0001g0092	2	292	0.0068	-181	c.36 others(11): Show c.3692_*3872del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2699		chr1	TogoVar
ACE_chr17_63472061_63503373	63501290	TCTCTCCC others(174): Show TCTCTCCCTCATCCTCTCTCCCTGTGTCACCTCTCCCTCATCCTCTCCCT CATCCTCTCTCCCTATGTCACCTCTCCCTCATCCTCTCTCCCTATGTCAC CTCTCCCTCATCCTCTCCCTCATCCTCTCTCCCTATGTCATCTCTCCCTC ATCCTCTCTCCCTGTGTCACCTCTCCCTCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(160): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19072.hp2 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0005 others(12): Show a0001 a0003 a0005 a0006 a0009 a0011 a0012 a0013 a0015 a0016 a0017 a0021 a0022 a0023 a0025	a0001c0001 a0001c0002 a0001c0004 others(28): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0016 a0001c0039 a0001c0050 a0001c0051 a0001c0056 a0001c0057 a0001c0064 a0003c0012 a0003c0020 a0005c0026 a0006c0061 a0006c0062 a0009c0019 a0011c0029 a0012c0027 a0013c0021 a0015c0047 a0016c0063 a0017c0053 a0021c0058 a0022c0049 a0023c0046 a0025c0052	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(33): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0007t0002 a0001c0008t0001 a0001c0010t0001 a0001c0013t0002 a0001c0016t0002 a0001c0039t0001 a0001c0050t0001 a0001c0051t0001 a0001c0056t0002 a0001c0057t0001 a0001c0064t0002 a0003c0012t0001 a0003c0020t0001 a0005c0026t0002 a0006c0061t0001 a0006c0062t0001 a0009c0019t0001 a0011c0029t0001 a0012c0027t0002 a0013c0021t0010 a0015c0047t0001 a0016c0063t0001 a0017c0053t0001 a0021c0058t0002 a0022c0049t0001 a0023c0046t0001 a0025c0052t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0135 a0001c0001t0006g0028 a0001c0001t0006g0090 a0001c0001t0013g0001 a0001c0002t0001g0127 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0014g0123 a0001c0004t0001g0014 a0001c0004t0001g0065 a0001c0004t0001g0110 a0001c0004t0002g0146 a0001c0006t0001g0001 a0001c0006t0001g0050 a0001c0006t0001g0076 a0001c0006t0001g0117 a0001c0007t0002g0083 a0001c0008t0001g0019 a0001c0010t0001g0021 a0001c0013t0002g0002 a0001c0016t0002g0132 a0001c0039t0001g0125 a0001c0050t0001g0078 a0001c0051t0001g0001 a0001c0056t0002g0145 a0001c0057t0001g0016 a0001c0064t0002g0002 a0003c0012t0001g0051 a0003c0020t0001g0010 a0005c0026t0002g0087 a0006c0061t0001g0130 a0006c0062t0001g0040 a0009c0019t0001g0020 a0009c0019t0001g0043 a0011c0029t0001g0149 a0012c0027t0002g0002 a0013c0021t0010g0001 a0015c0047t0001g0118 a0016c0063t0001g0040 a0017c0053t0001g0001 a0021c0058t0002g0009 a0022c0049t0001g0096 a0023c0046t0001g0119 a0025c0052t0002g0002	163	362	0.4503	-181	c.39 others(11): Show c.3925_*4105del	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding		2918		chr17	TogoVar
ADARB2_chr10_1172313_1742525	1542133	TCACAGCC others(174): Show TCACAGCCGTCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATCACAG CCGCCCAGACCACACTCAGATATAGTTCAGACCCTGGATCACAGCCGTCC AGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCG CACTCAGATGTAGTTCAGACCCTGGATCACAG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 HG02622.hp2 others(3): Show HG01081.hp1 HG02257.hp2 HG02622.hp2 HG02886.hp1 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0002c0014	a0001c0001t0001 a0001c0001t0029 a0001c0001t0052 others(3): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0052 a0001c0007t0066 a0002c0002t0005 a0002c0014t0008	a0001c0001t0001g0045 a0001c0001t0029g0031 a0001c0001t0052g0062 others(3): Show a0001c0001t0001g0045 a0001c0001t0029g0031 a0001c0001t0052g0062 a0001c0007t0066g0105 a0002c0002t0005g0033 a0002c0014t0008g0060	6	103	0.0583	-181	c.101 others(21): Show c.101-163154_101-162974del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1542397	TCACAGCC others(174): Show TCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAG CCGCCCAGACCGCACTCAGATGTAGTTCAGACCCTGGATCACAGCCGTCC AGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACCC CACTCAGACGCAGTTCGGACCCTGGATCACAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18982.hp2 HG02055.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0098 a0002c0002t0002g0043 a0001c0001t0003g0098 a0002c0002t0002g0043	2	68	0.0294	-181	c.101 others(21): Show c.101-163418_101-163238del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8107826	AAAGAAAG others(174): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGA GAGAGAGAAAGAAAGAAAGGAAGGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	410	0.0024	-181	c.168 others(17): Show c.1684+461_1684+641del	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
APOA4_chr11_116815700_116828304	116818433	TGAATTTA others(174): Show TGAATTTATATATGAATATATATATGAATATATATGAATTTATATATGAA TTATATATGAATATATATGAATATATATGAATATATATATGAATTATATA TGAATATATATGAATATATATATGAATTATATATGAATATATATATGAAT TATATATGAATATATATGTGTGTGTGTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0017 a0006c0012t0001g0017	1	459	0.0022	-181	c.22 others(11): Show c.2253_*2433del	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2266		chr11	TogoVar
ASIC2_chr17_33008087_33298295	33150686	TAAAAATA others(174): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00621.hp1 others(86): Show HG00280.hp2 HG00597.hp1 HG00621.hp1 HG00733.hp2 HG01069.hp1 HG01109.hp1 HG01168.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19012.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19088.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(28): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0001c0002t0015 a0001c0002t0025 a0001c0002t0029 a0001c0002t0032 a0001c0004t0001 a0001c0004t0002 a0001c0004t0016 a0001c0006t0012 a0001c0007t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0016 a0002c0003t0017 a0002c0003t0018 a0002c0003t0031	a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0022 others(86): Show a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0043 a0001c0001t0003g0052 a0001c0001t0003g0067 a0001c0001t0003g0077 a0001c0001t0003g0081 a0001c0001t0004g0010 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0031 a0001c0001t0004g0036 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0055 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0006g0017 a0001c0001t0007g0225 a0001c0001t0007g0228 a0001c0001t0007g0236 a0001c0001t0007g0239 a0001c0001t0009g0061 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0013g0051 a0001c0001t0022g0071 a0001c0001t0023g0084 a0001c0001t0024g0085 a0001c0001t0033g0238 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0129 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0107 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0130 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0005g0096 a0001c0002t0005g0102 a0001c0002t0012g0086 a0001c0002t0015g0090 a0001c0002t0025g0087 a0001c0002t0029g0104 a0001c0002t0032g0223 a0001c0004t0001g0147 a0001c0004t0001g0153 a0001c0004t0001g0159 a0001c0004t0001g0161 a0001c0004t0001g0174 a0001c0004t0002g0156 a0001c0004t0002g0163 a0001c0004t0002g0166 a0001c0004t0002g0167 a0001c0004t0002g0175 a0001c0004t0016g0149 a0001c0006t0012g0091 a0001c0007t0003g0048 a0002c0003t0001g0181 a0002c0003t0001g0194 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0208 a0002c0003t0001g0211 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0186 a0002c0003t0002g0203 a0002c0003t0002g0213 a0002c0003t0005g0221 a0002c0003t0016g0177 a0002c0003t0017g0205 a0002c0003t0018g0212 a0002c0003t0031g0222	89	238	0.3740	-181	c.709 others(19): Show c.709-38800_709-38620del	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81077789	GCGCTGTG others(174): Show GCGCTGTGGGTGCAGGTTCCACCTCGGAGCTGGGTGCTGTGGGCACAGGT GCGGGTGCCATCTTGGGTGGGAGCCAGGCACTGTGGGTGCCAGTGCCATC TTAGATCTGGGCACTCTGGGTGCAGGTGCCATCTCGGAGCTGGATGCTGT GGGTGCGGGTGCCGTATTGGGTGGGAGCCGGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02809.hp1 HG02895.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0017 a0001c0008t0017	a0001c0008t0017g0368 a0001c0008t0017g0369 a0001c0008t0017g0368 a0001c0008t0017g0369	2	374	0.0053	-181	c.218 others(17): Show c.218-6920_218-6740del	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1B_chr9_137872782_138129619	138126704	GCCCCGGC others(174): Show GCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGT GAGCAAGAGGGCACTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	124	0.0081	-181	c.47 others(11): Show c.4706_*4886del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2086		chr9	TogoVar
CACNA2D1_chr7_81941444_82448777	82159257	TCATCAAA others(174): Show TCATCAAATTGCAAGACAAACCATGACTTAATCCTTTTTACCCTAAGTCT TATCAACTGCTTGAATGCTAAAAAAACTGACTGGAATGTTTGAAAGGAAG CACACTTTGTAAGATATTTGAGACTATTCATCAAGTTTCCAAGCTACCTC AGCATCTTCTCCTTTTAATCTTCCCTATATTC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	142	0.0070	-181	c.354 others(19): Show c.354+11112_354+11292del	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar

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