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
ADAP1_chr7_892900_959680	937072	GCCTCTGG others(99): Show GCCTCTGGGATTTGGGGGTCACGCCGGGCCTCGGATTTGGGGGTCACGCC CGACCTCTGGGATTTGGGGGTCACGCCCGGCCTCTGGGATTTGGGGGTCA CGCCCGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	12	0.0833	-106	c.83- others(15): Show c.83-1673_83-1568del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10			chr7	TogoVar
ADGRG6_chr6_142297007_142451261	142318081	ATATATTT others(99): Show ATATATTTATATTATATATATTTATATATATTATATATTATATATATTAT ATATTTATATAATATATATTATATATTATATATATTATATATTTATATAT TATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	258	0.0039	-106	c.103 others(17): Show c.103+8443_103+8548del	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADI1_chr2_3492366_3524531	3522193	CCTATCTC others(99): Show CCTATCTCATATCTAATGCTTCTCATTTACTAGAAAATAGTAGTACTAGG CTGGGTGCTGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGG TGGGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	390	0.0026	-106	c.-28 others(11): Show c.-2812_-2707del	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding		2663		chr2	TogoVar
AGMO_chr7_15195317_15567015	15322459	TATATATA others(99): Show TATATATAAATATATAAATATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATAAATATATATATAAATATATATAAA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0232 a0001c0001t0006g0232	1	234	0.0043	-106	c.126 others(21): Show c.1263+42949_1263+43054del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354351	TATAGACG others(99): Show TATAGACGTGTGTATATAGACGTGTGTATACACGTGTGTGTATACACGTG TGTGTACACACGTGTGTGTATACACACACGTGTGTGTATACACACGTGTG TGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02155.hp1 HG03098.hp1 others(2): Show HG01106.hp1 HG02155.hp1 HG03098.hp1 NA19009.hp1 NA19009.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0018 a0008c0015 a0001c0001 a0001c0018 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0018t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0018t0001 a0008c0015t0006	a0001c0001t0001g0074 a0001c0001t0002g0107 a0001c0001t0002g0122 others(2): Show a0001c0001t0001g0074 a0001c0001t0002g0107 a0001c0001t0002g0122 a0001c0018t0001g0190 a0008c0015t0006g0230	5	227	0.0220	-106	c.126 others(21): Show c.1263+11057_1263+11162del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354404	GTACACAC others(99): Show GTACACACGTGTGTGTATACACACACGTGTGTGTATACACACGTGTGTGT ATACACACGTGTGTGTATACACACGTGTGTATATACACACGTGTATATAT ATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0108 a0001c0001t0009g0108	1	161	0.0062	-106	c.126 others(21): Show c.1263+11004_1263+11109del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AHRR_chr5_316714_443285	391831	GGGCGCAG others(99): Show GGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAG GGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGG CGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0021 a0006c0006t0021	a0006c0006t0021g0245 a0006c0006t0021g0245	1	266	0.0038	-106	c.351 others(19): Show c.351+15125_351+15230del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	392045	TGAGGCAG others(99): Show TGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGG CGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGC GCAGGGC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0020 a0012c0014t0020	a0012c0014t0020g0034 a0012c0014t0020g0034	1	216	0.0046	-106	c.351 others(19): Show c.351+15353_351+15458del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALDH1A2_chr15_57948429_58070711	57989910	CAAAAATG others(99): Show CAAAAATGACAGGACGGAGCTTGCAGTGAGCCGAGATTGCGTCACTGCAG TCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(153): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004	a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 others(11): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0002t0026 a0002c0003t0003 a0002c0004t0003	a0001c0001t0003g0154 a0002c0002t0002g0004 a0002c0002t0002g0057 others(150): Show a0001c0001t0003g0154 a0002c0002t0002g0004 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0145 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0262 a0002c0002t0002g0277 a0002c0002t0002g0318 a0002c0002t0003g0002 a0002c0002t0003g0003 a0002c0002t0003g0012 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0047 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0052 a0002c0002t0003g0056 a0002c0002t0003g0061 a0002c0002t0003g0074 a0002c0002t0003g0091 a0002c0002t0003g0295 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0006g0081 a0002c0002t0006g0118 a0002c0002t0006g0143 a0002c0002t0006g0144 a0002c0002t0007g0008 a0002c0002t0007g0009 a0002c0002t0007g0010 a0002c0002t0007g0011 a0002c0002t0009g0169 a0002c0002t0009g0170 a0002c0002t0009g0171 a0002c0002t0010g0090 a0002c0002t0010g0108 a0002c0002t0011g0093 a0002c0002t0011g0096 a0002c0002t0019g0060 a0002c0002t0020g0088 a0002c0002t0021g0131 a0002c0002t0026g0099 a0002c0003t0003g0013 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0046 a0002c0003t0003g0048 a0002c0003t0003g0051 a0002c0003t0003g0053 a0002c0003t0003g0054 a0002c0003t0003g0055 a0002c0003t0003g0135 a0002c0003t0003g0150 a0002c0003t0003g0168 a0002c0003t0003g0195 a0002c0004t0003g0147 a0002c0004t0003g0148	156	324	0.4815	-106	c.798 others(17): Show c.798+2689_798+2794del	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	7/12			chr15	TogoVar
ALDH3B2_chr11_67657155_67679623	67668660	GTGTGTGT others(99): Show GTGTGTGTATGGGTGTCTGTGTGTGTCTGTGTATGTATGGGTACTGTGTG TCTTTGTGTGTATGGGTGTCTGTGTGTGTCTGTGTATGTATGGGTGCTGT GTGTCTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02486.hp2 others(3): Show HG01243.hp1 HG02055.hp1 HG02486.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp2	a0008 a0010 a0008 a0010	a0008c0012 a0008c0013 a0010c0016 a0008c0012 a0008c0013 a0010c0016	a0008c0012t0010 a0008c0013t0008 a0010c0016t0006 a0008c0012t0010 a0008c0013t0008 a0010c0016t0006	a0008c0012t0010g0177 a0008c0012t0010g0178 a0008c0013t0008g0065 others(2): Show a0008c0012t0010g0177 a0008c0012t0010g0178 a0008c0013t0008g0065 a0008c0013t0008g0066 a0010c0016t0006g0049	6	388	0.0155	-106	c.-24 others(19): Show c.-244-1131_-244-1026del	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ARHGAP10_chr4_147727088_148077776	147784660	AATATATA others(99): Show AATATATATTATATATTATAAATATAAAATATATATTATAAAATATATAT TATAAATATAATATATTATAAAATATATATTATAAATATATATTATAAAA TGTATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	69	0.0145	-106	c.155 others(19): Show c.155-38066_155-37961del	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22			chr4	TogoVar
ARHGAP39_chr8_144524179_144690846	144687205	ACACTGGC others(99): Show ACACTGGCGGCGACCATTTCCCACCCCCGTGACCACACACTGGCGGTGAG CACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGT GACCACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	188	0.0053	-106	c.-17 others(11): Show c.-1707_-1602del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1360		chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111221139	ATATATAT others(99): Show ATATATATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATAT ATATGTC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG02886.hp2 others(5): Show HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0016t0008	a0001c0001t0001g0079 a0001c0001t0007g0089 a0001c0001t0008g0003 others(5): Show a0001c0001t0001g0079 a0001c0001t0007g0089 a0001c0001t0008g0003 a0001c0001t0008g0009 a0001c0001t0008g0047 a0001c0001t0008g0066 a0001c0001t0008g0106 a0001c0016t0008g0221	8	271	0.0295	-106	c.670 others(17): Show c.670+3269_670+3374del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864330	AGTAATTC others(99): Show AGTAATTCAGTGCAGGCCATGCAGCTTCCCAGCGGGGATCATCACCACGT GCGCCATAATTCAGCGTAGCGCGTGCAGCTTCCCAGCGGGATCCATCACC ACATGGG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0201 a0001c0002t0061g0201	1	252	0.0040	-106	c.299 others(19): Show c.2991+1756_2991+1861del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50086415	TAATATAG others(99): Show TAATATAGAGATCTATAATTATATATAATAAAATAATAGAGATCTATATT ATTATATATAATAAAATAATATAGAGATCTATATTTAATTATATATAATA AATATAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG02630.hp2 others(3): Show HG01109.hp1 HG01167.hp1 HG02630.hp2 HG02683.hp2 HG02965.hp1 HG06807.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0004c0004t0009 a0004c0004t0011	a0001c0001t0002g0074 a0001c0001t0003g0106 a0002c0002t0001g0100 others(3): Show a0001c0001t0002g0074 a0001c0001t0003g0106 a0002c0002t0001g0100 a0002c0002t0002g0069 a0004c0004t0009g0096 a0004c0004t0011g0068	6	247	0.0243	-106	c.29- others(17): Show c.29-12336_29-12231del	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
B3GALT1_chr2_167288001_167879045	167551026	ACATGAGA others(99): Show ACATGAGAAAAGATGGTGGTGATGTCGGATTGCCCAGGACATTGTATAGG CTAGTCCCACATGCCTCTGGTGTTTGTCCATTTGCCCATCTGCCAGATCT TAGTCAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02109.hp2 others(17): Show HG00741.hp1 HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02896.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp2 HG03927.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034	a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0002g0010 others(17): Show a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0094 a0001c0001t0003g0028 a0001c0001t0005g0024 a0001c0001t0007g0102 a0001c0001t0009g0031 a0001c0001t0010g0107 a0001c0001t0011g0009 a0001c0001t0013g0056 a0001c0001t0016g0077 a0001c0001t0018g0093 a0001c0001t0025g0008 a0001c0001t0026g0006 a0001c0001t0034g0044	20	116	0.1724	-106	c.-41 others(21): Show c.-410+60750_-410+60855del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4			chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167875977	ATATATAC others(99): Show ATATATACACGTATATATATATATACGTATATATATATATACGTATATAT ATATATACGTATATATATATATATACGTATATATATATATGTATATATAT ATATACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01255.hp2 HG02683.hp2 HG00741.hp2 HG01255.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0027 a0001c0001t0003g0082 a0001c0001t0008g0005 a0001c0001t0003g0027 a0001c0001t0003g0082 a0001c0001t0008g0005	3	106	0.0283	-106	c.59 others(11): Show c.5958_*6063del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1933		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167875991	ATATATAT others(99): Show ATATATATATACGTATATATATATATACGTATATATATATATACGTATAT ATATATATATACGTATATATATATATGTATATATATATATACGTATATAT ATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0063 a0001c0001t0020g0063	1	115	0.0087	-106	c.59 others(11): Show c.5972_*6077del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1947		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876033	ACGTATAT others(99): Show ACGTATATATATATATATACGTATATATATATATGTATATATATATATAC GTATATATATATATGTATATATATATATATACATATATATATATATATTT ATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0055 a0001c0001t0043g0055	1	116	0.0086	-106	c.60 others(11): Show c.6014_*6119del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1989		chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	83055484	AACTCGGT others(99): Show AACTCGGTGCTGGGTGGGGAGGTTCCCTGCAGGTCCGCACGGACGGTGTT AGACTCGGTGCTGGGTGGGGAGACAGGTTCCCTGCAGGTCCCCACAGACA GTGTTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0201 a0001c0003t0034g0201	1	221	0.0045	-106	c.-38 others(11): Show c.-3839_-3734del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3715		chr17	TogoVar
BRF1_chr14_105204286_105306001	105276024	TGAGAGGC others(99): Show TGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp2 HG02257.hp2 HG00741.hp1 HG01361.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010	3	63	0.0476	-106	c.266 others(17): Show c.266-3236_266-3131del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276084	GGGCCCTC others(99): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	62	0.0161	-106	c.266 others(17): Show c.266-3296_266-3191del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276296	CGGCCCTC others(99): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCT GAGAGGG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03098.hp2 HG01123.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0029 a0001c0001t0001g0040	2	55	0.0364	-106	c.266 others(17): Show c.266-3508_266-3403del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276614	GGGCCCTC others(99): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	52	0.0192	-106	c.266 others(17): Show c.266-3826_266-3721del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276839	AGAGCTGG others(99): Show AGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCAC TAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGGGGCCCT CACTAGG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19030.hp2 HG02129.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0002g0069 a0001c0001t0001g0018 a0001c0001t0002g0069	2	70	0.0286	-106	c.266 others(17): Show c.266-4051_266-3946del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276872	CGAGAGGC others(99): Show CGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp2 HG02257.hp2 HG00741.hp1 HG01361.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010	3	62	0.0484	-106	c.266 others(17): Show c.266-4084_266-3979del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277402	CGAGAGGC others(99): Show CGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	68	0.0147	-106	c.266 others(17): Show c.266-4614_266-4509del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
CA12_chr15_63316378_63386846	63320916	GACCAGAA others(99): Show GACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCACGGTAAACTC TAAGACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCACGGTAAA CTCTACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(216): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0008 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0002t0008 a0001c0002t0019 a0001c0003t0024 a0002c0008t0007 a0003c0004t0006	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(210): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0277 a0001c0001t0001g0284 a0001c0001t0001g0334 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0039 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0078 a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0127 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0314 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0004g0221 a0001c0001t0004g0271 a0001c0001t0004g0278 a0001c0001t0006g0184 a0001c0001t0006g0294 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0319 a0001c0001t0006g0335 a0001c0001t0006g0337 a0001c0001t0006g0338 a0001c0001t0007g0029 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0071 a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0178 a0001c0001t0007g0342 a0001c0001t0008g0068 a0001c0001t0008g0075 a0001c0001t0008g0094 a0001c0001t0008g0125 a0001c0001t0008g0172 a0001c0001t0008g0201 a0001c0001t0009g0006 a0001c0001t0009g0072 a0001c0001t0009g0077 a0001c0001t0009g0082 a0001c0001t0009g0108 a0001c0001t0009g0154 a0001c0001t0010g0007 a0001c0001t0010g0139 a0001c0001t0010g0153 a0001c0001t0010g0204 a0001c0001t0011g0020 a0001c0001t0013g0013 a0001c0001t0013g0131 a0001c0001t0013g0159 a0001c0001t0013g0205 a0001c0001t0013g0268 a0001c0001t0016g0183 a0001c0001t0016g0192 a0001c0001t0016g0243 a0001c0001t0016g0309 a0001c0001t0017g0129 a0001c0001t0017g0130 a0001c0001t0017g0203 a0001c0001t0017g0339 a0001c0001t0019g0012 a0001c0001t0019g0254 a0001c0001t0019g0340 a0001c0001t0020g0142 a0001c0001t0020g0220 a0001c0001t0020g0225 a0001c0001t0020g0283 a0001c0001t0021g0055 a0001c0001t0021g0140 a0001c0001t0021g0141 a0001c0001t0022g0015 a0001c0001t0022g0253 a0001c0001t0022g0311 a0001c0001t0023g0003 a0001c0001t0026g0089 a0001c0001t0031g0308 a0001c0001t0032g0163 a0001c0001t0033g0073 a0001c0001t0034g0196 a0001c0001t0035g0135 a0001c0001t0036g0107 a0001c0001t0038g0166 a0001c0001t0039g0167 a0001c0001t0040g0019 a0001c0001t0041g0098 a0001c0001t0042g0344 a0001c0001t0043g0329 a0001c0001t0045g0326 a0001c0001t0046g0296 a0001c0001t0047g0093 a0001c0001t0056g0017 a0001c0001t0057g0208 a0001c0001t0058g0318 a0001c0001t0059g0174 a0001c0002t0008g0158 a0001c0002t0019g0171 a0001c0003t0024g0136 a0001c0003t0024g0138 a0002c0008t0007g0343 a0003c0004t0006g0011	219	354	0.6186	-106	c.52 others(11): Show c.5263_*5368del	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding		461		chr15	TogoVar
CACNA1C_chr12_2047987_2702950	2105772	CTGAAGCC others(99): Show CTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGC ATCCTGAAGCCACTGGGCGCCCACCCTGGGGAGGGTTTCCACCTCAGCTG GGCATCG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0033 a0001c0008t0033	a0001c0008t0033g0080 a0001c0008t0033g0080	1	64	0.0156	-106	c.50- others(15): Show c.50-9402_50-9297del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1191188	GTCTCTCT others(99): Show GTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTC GGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACT CGGGGTC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0063 a0063	a0063c0113 a0063c0113	a0063c0113t0001 a0063c0113t0001	a0063c0113t0001g0213 a0063c0113t0001g0213	1	258	0.0039	-106	c.300 others(17): Show c.300-3778_300-3673del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191557	CTGACCCA others(99): Show CTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTT TCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCAGG GTTTTGG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	332	0.0030	-106	c.300 others(17): Show c.300-3366_300-3261del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG7_chr19_53904278_53948950	53920144	TCTGGTCA others(99): Show TCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCC CAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTG CCCCAGG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19240.hp2 HG02886.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0274 a0001c0001t0001g0276	2	361	0.0055	-106	c.424 others(17): Show c.424+4720_424+4825del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921453	TCTGGTAT others(99): Show TCTGGTATTGCTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGCCC CAGGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTG CCCCAGG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	363	0.0028	-106	c.424 others(17): Show c.424+5954_424+6059del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG8_chr19_53957937_53995215	53962577	TGGGGACT others(99): Show TGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGACTTTCTTGG GCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTATTAATTATTAGC GGTGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0249 a0001c0001t0027g0249	1	392	0.0026	-106	c.-56 others(9): Show c.-565_-460del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		359		chr19	TogoVar
CASTOR2_chr7_74959705_75036528	75032680	TATTCTTC others(99): Show TATTCTTCCATCACCCTGAGCCCAAGAGAGTTCTAGCTGCTGAGAAGCTT TTATGCCTGGGGTCTGAAGACAAGTCCTGTCGCTCGGGCCTTCAGATAAT ACCACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	226	0.0044	-106	c.79 others(11): Show c.7982_*8087del	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1153		chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88894348	ACACACAT others(99): Show ACACACATGCATACATATACACATGCACACAATGTACACACATGCACACA CACATGCACACACACATGCATACATATACACATGCACACAATGTACACAC ATGCACG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	275	0.0036	-106	c.380 others(17): Show c.380-1969_380-1864del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	GCACACAT others(99): Show GCACACATGCATACATATACACATGCACACAATGTACACACATGCACACA CACATGCACACACACATGCATACATATACACATGCACACAATGTACACAC ATGCACA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	187	0.0053	-106	c.380 others(17): Show c.380-2075_380-1970del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCNJL_chr5_160244083_160317564	160315549	AAGGGGAT others(99): Show AAGGGGATGAATAAAAACAAAAAAAGATTAGAGTACGATCCCAGTTAAAC TACATTCATGCACACACACATATGCAAAAATATTAACTGTGTAATCAGAG TGGTAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(117): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02486.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18987.hp1 NA18988.hp2 NA18993.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19089.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0006c0008 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0027 a0001c0001t0034 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0003t0002 a0002c0002t0003 a0002c0002t0023 a0002c0002t0050 a0003c0005t0004 a0006c0008t0001 a0007c0006t0033	a0001c0001t0001g0040 a0001c0001t0001g0178 a0001c0001t0001g0187 others(106): Show a0001c0001t0001g0040 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0267 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0269 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0004g0160 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0005g0188 a0001c0001t0005g0238 a0001c0001t0005g0247 a0001c0001t0005g0257 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0006g0284 a0001c0001t0006g0293 a0001c0001t0006g0294 a0001c0001t0006g0300 a0001c0001t0006g0303 a0001c0001t0006g0308 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0320 a0001c0001t0006g0322 a0001c0001t0008g0194 a0001c0001t0008g0228 a0001c0001t0008g0251 a0001c0001t0010g0005 a0001c0001t0010g0190 a0001c0001t0010g0220 a0001c0001t0010g0231 a0001c0001t0012g0239 a0001c0001t0015g0011 a0001c0001t0015g0309 a0001c0001t0017g0203 a0001c0001t0021g0314 a0001c0001t0021g0316 a0001c0001t0027g0218 a0001c0001t0034g0256 a0001c0001t0041g0268 a0001c0001t0042g0313 a0001c0001t0046g0302 a0001c0001t0047g0288 a0001c0001t0048g0307 a0001c0001t0049g0319 a0001c0003t0002g0286 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0147 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0185 a0002c0002t0003g0191 a0002c0002t0003g0195 a0002c0002t0003g0221 a0002c0002t0003g0224 a0002c0002t0023g0295 a0002c0002t0023g0298 a0002c0002t0050g0289 a0003c0005t0004g0206 a0006c0008t0001g0234 a0007c0006t0033g0229	120	336	0.3571	-106	c.-33 others(11): Show c.-3341_-3236del	CCNJL	ENSG00000135083.17	transcript	ENST00000257536.13	protein_coding		2986		chr5	TogoVar
CDCP1_chr3_45077277_45151378	45108782	TATATATG others(99): Show TATATATGCATGTATATATATATATGCATGTATACATATATATGCATGTA TATATATATATGCATGTATACATATATATGCATGTATATATATATATGCA TGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02886.hp2 others(1): Show HG02572.hp2 HG02630.hp1 HG02886.hp2 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0009 a0001c0001 a0002c0002 a0004c0009	a0001c0001t0002 a0001c0001t0009 a0002c0002t0012 others(1): Show a0001c0001t0002 a0001c0001t0009 a0002c0002t0012 a0004c0009t0007	a0001c0001t0002g0060 a0001c0001t0009g0158 a0002c0002t0012g0337 others(1): Show a0001c0001t0002g0060 a0001c0001t0009g0158 a0002c0002t0012g0337 a0004c0009t0007g0237	4	382	0.0105	-106	c.102 others(19): Show c.1024+1585_1024+1690del	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDH4_chr20_61247261_61945617	61390314	AGTCATAG others(99): Show AGTCATAGGGTGCCCATAGCACCATGTCTAGGAAACCCCGATTGGGTTCG TACAGTCATAGGTTGCCCATAGTGCCGTGTCTGGGAAACCCCGATTGAGA TCGTGCG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG01255.hp1 others(17): Show HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01884.hp1 HG02145.hp2 HG02148.hp2 HG02559.hp2 HG02630.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0023 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0027 a0001c0001t0030 a0001c0001t0044 a0001c0003t0001 a0001c0003t0035 a0001c0003t0038 a0001c0003t0039 a0001c0003t0041 a0001c0006t0026 a0001c0023t0042 a0002c0002t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0012	a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0002g0088 others(17): Show a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0002g0088 a0001c0001t0017g0030 a0001c0001t0027g0019 a0001c0001t0030g0089 a0001c0001t0044g0085 a0001c0003t0001g0037 a0001c0003t0035g0043 a0001c0003t0038g0081 a0001c0003t0039g0063 a0001c0003t0041g0086 a0001c0006t0026g0034 a0001c0023t0042g0084 a0002c0002t0004g0022 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0033 a0002c0004t0002g0001 a0002c0004t0012g0016	20	105	0.1905	-106	c.169 others(21): Show c.169+135439_169+135544del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH8_chr16_61642250_62041438	61960226	CACACATA others(99): Show CACACATATATACATGTGTGTGTGTATACACATACATATATACGTGTGTG TGTATACACACATATATACGTGTGTGTGTATACACACATATATACGTGTG TGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0061 a0001c0001t0007g0061	1	166	0.0060	-106	c.253 others(19): Show c.253-58859_253-58754del	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDKN2A_chr9_21962752_21999392	21981056	GTGTATAT others(99): Show GTGTATATATATATACGTGTATATATATATATACGTGTATATATATACGT GTATATATATATATACGTGTATATATATATATACGTGTATATATATATAT ACGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	402	0.0025	-106	c.194 others(17): Show c.194-9954_194-9849del	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDYL_chr6_4771404_4960544	4895332	TGTGCATA others(99): Show TGTGCATATATGCATGTATGTATATATGTGCATATATGCATGTATGTATA TATGTGCATATATGCATGTATACATGTATACGTATATATGCATGTATACA TGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0237 a0001c0011t0004g0237	1	231	0.0043	-106	c.691 others(17): Show c.691+2956_691+3061del	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CERCAM_chr9_128415857_128442347	128437814	TACGTGTA others(99): Show TACGTGTATATACACGTATATACACATACACGTATATACACGTATATACA CATACACGTATATACACGTATATACACATACACGTATATACACGTATATA CACATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01192.hp1 others(1): Show HG00140.hp1 HG00741.hp1 HG01192.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0132 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0148	4	242	0.0165	-106	c.96 others(10): Show c.967_*1072del	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		468		chr9	TogoVar
CFAP299_chr4_80330730_80968750	80799591	ATAAAATA others(99): Show ATAAAATATATATTTTATATATTATATATTTATAAATATATAATATATAA AATATATATTTTATATATTATATTTTATAAATATATATTTATAAATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	96	0.0104	-106	c.334 others(19): Show c.334-70401_334-70296del	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP54_chr12_96484577_96880555	96664689	GTATATAT others(99): Show GTATATATCTATATATATATATATATCTATATATATCTATATATATATAT CTATATATATATATATCTATATATATCTATATCTATATCTATATATATAT ATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp2 NA19065.hp1 HG00741.hp2 HG01496.hp2 NA19065.hp1	a0008 a0011 a0017 a0008 a0011 a0017	a0008c0008 a0011c0013 a0017c0059 a0008c0008 a0011c0013 a0017c0059	a0008c0008t0001 a0011c0013t0001 a0017c0059t0001 a0008c0008t0001 a0011c0013t0001 a0017c0059t0001	a0008c0008t0001g0205 a0011c0013t0001g0185 a0017c0059t0001g0085 a0008c0008t0001g0205 a0011c0013t0001g0185 a0017c0059t0001g0085	3	157	0.0191	-106	c.556 others(17): Show c.5563+765_5563+870del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP74_chr1_1916957_2008786	1981473	CGGTCACA others(99): Show CGGTCACACGCGGGGGCACGCAGGACACCCAACCACGGACAGACATGGGG GCACGCAGGACACACAGCCGCGGACAGACACGGGGGGCACACAGGACACC CAGCCGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03486.hp2 HG01243.hp2 HG03486.hp2	a0003 a0024 a0003 a0024	a0003c0004 a0024c0100 a0003c0004 a0024c0100	a0003c0004t0002 a0024c0100t0002 a0003c0004t0002 a0024c0100t0002	a0003c0004t0002g0065 a0024c0100t0002g0028 a0003c0004t0002g0065 a0024c0100t0002g0028	2	276	0.0072	-106	c.500 others(17): Show c.500+3807_500+3912del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1981869	CGGGGGCA others(99): Show CGGGGGCACGCAGGACACACAGCCGCGGACAGACACGGGGGCACGCAGGA CACACAGCCGCGGACAGACACGGGGGCACGCAGGACACACAGCCGCGGAC AGACACG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02040.hp2 HG02080.hp1 others(16): Show HG01243.hp2 HG02040.hp2 HG02080.hp1 HG02135.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp1 HG02630.hp2 HG03486.hp2 HG03540.hp1 NA18747.hp1 NA18947.hp1 NA18954.hp1 NA18960.hp2 NA18969.hp2 NA19074.hp1 NA19085.hp1 NA19087.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0010 a0013 a0024 a0031 a0040	a0001c0015 a0001c0039 a0003c0004 others(9): Show a0001c0015 a0001c0039 a0003c0004 a0003c0074 a0006c0026 a0006c0027 a0006c0037 a0010c0053 a0013c0046 a0024c0100 a0031c0059 a0040c0038	a0001c0015t0001 a0001c0015t0006 a0001c0039t0001 others(10): Show a0001c0015t0001 a0001c0015t0006 a0001c0039t0001 a0003c0004t0002 a0003c0074t0002 a0006c0026t0002 a0006c0027t0001 a0006c0037t0001 a0010c0053t0001 a0013c0046t0001 a0024c0100t0002 a0031c0059t0001 a0040c0038t0003	a0001c0015t0001g0168 a0001c0015t0001g0186 a0001c0015t0001g0189 others(16): Show a0001c0015t0001g0168 a0001c0015t0001g0186 a0001c0015t0001g0189 a0001c0015t0006g0243 a0001c0039t0001g0063 a0003c0004t0002g0031 a0003c0004t0002g0032 a0003c0004t0002g0065 a0003c0074t0002g0033 a0006c0026t0002g0011 a0006c0026t0002g0110 a0006c0027t0001g0266 a0006c0027t0001g0269 a0006c0037t0001g0267 a0010c0053t0001g0219 a0013c0046t0001g0087 a0024c0100t0002g0028 a0031c0059t0001g0025 a0040c0038t0003g0251	19	275	0.0691	-106	c.500 others(17): Show c.500+3411_500+3516del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CLPX_chr15_65143219_65190342	65145940	ATATATAA others(99): Show ATATATAAATATATATATAAAATATATATATAAATATATATATAAATATA TATATAAATATATATATAAATATATATATAAATATATATATAAATATATA TATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0092 a0001c0001t0021g0092	1	182	0.0055	-106	c.47 others(11): Show c.4777_*4882del	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2278		chr15	TogoVar
CLPX_chr15_65143219_65190342	65145998	TATATATA others(99): Show TATATATATAAATATATATATAAATATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATATAAATATATATATAAATATA TATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	188	0.0053	-106	c.47 others(11): Show c.4719_*4824del	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2220		chr15	TogoVar

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