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
SQSTM1_chr5_179815905_179843078	179823445	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0148 a0001c0003t0006g0148	1	462	0.0022	-10	c.302 others(25): Show c.302-387_302-378delAAAAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179842699	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02976.hp1 others(2): Show HG02145.hp2 HG02572.hp1 HG02976.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0006 a0001c0003t0006 a0001c0003t0016 others(1): Show a0001c0002t0006 a0001c0003t0006 a0001c0003t0016 a0001c0005t0001	a0001c0002t0006g0151 a0001c0003t0006g0148 a0001c0003t0006g0150 others(2): Show a0001c0002t0006g0151 a0001c0003t0006g0148 a0001c0003t0006g0150 a0001c0003t0016g0149 a0001c0005t0001g0141	5	462	0.0108	-10	c.61 others(21): Show c.6107_*6116delAAAAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4622		chr5	TogoVar
SRARP_chr1_15999236_16013807	16013174	AGGGGGCT others(3): Show AGGGGGCTGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp2 others(61): Show HG00280.hp1 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG01168.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp2 HG02132.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG03239.hp2 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0028 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0028 a0001c0002t0029 a0001c0002t0036	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0002g0003 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0022 a0001c0002t0002g0031 a0001c0002t0028g0003 a0001c0002t0029g0003 a0001c0002t0036g0013	64	400	0.1600	-10	c.68 others(21): Show c.6829_*6838delGGGGGCTGCT	SRARP	ENSG00000183888.4	transcript	ENST00000329454.2	protein_coding		4368		chr1	TogoVar
SRBD1_chr2_45383680_45616267	45415642	AGGAGGGG others(3): Show AGGAGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(31): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00735.hp2 HG01255.hp1 HG01261.hp2 HG01943.hp2 HG02027.hp2 HG02129.hp2 HG02300.hp1 HG02683.hp2 HG03017.hp1 HG03239.hp1 HG03942.hp2 HG04199.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp2 NA18986.hp1 NA19000.hp1 NA19005.hp2 NA19074.hp1 NA19077.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 others(31): Show a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0324 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0346 a0002c0004t0001g0076 a0002c0004t0001g0078 a0002c0004t0001g0079 a0002c0004t0001g0214 a0002c0004t0001g0215 a0002c0004t0001g0228 a0002c0004t0001g0232	34	358	0.0950	-10	c.233 others(29): Show c.2334-2359_2334-2350delCCTCCCCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415676	GGGGAGGG others(3): Show GGGGAGGGGAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01071.hp2 others(10): Show HG00642.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG02559.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG03195.hp1 HG03225.hp2 HG03942.hp1 NA19043.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0016 a0001c0001 a0002c0002 a0002c0016	a0001c0001t0001 a0002c0002t0001 a0002c0016t0001 a0001c0001t0001 a0002c0002t0001 a0002c0016t0001	a0001c0001t0001g0041 a0002c0002t0001g0006 a0002c0002t0001g0007 others(10): Show a0001c0001t0001g0041 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0136 a0002c0002t0001g0239 a0002c0016t0001g0024	13	358	0.0363	-10	c.233 others(29): Show c.2334-2393_2334-2384delGTCCCCTCCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415682	GGGACGGG others(3): Show GGGACGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG03195.hp2 others(1): Show HG02615.hp1 HG02630.hp2 HG03195.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0005c0006t0001 a0001c0001t0001 a0001c0001t0003 a0005c0006t0001	a0001c0001t0001g0150 a0001c0001t0003g0125 a0005c0006t0001g0160 others(1): Show a0001c0001t0001g0150 a0001c0001t0003g0125 a0005c0006t0001g0160 a0005c0006t0001g0161	4	358	0.0112	-10	c.233 others(29): Show c.2334-2399_2334-2390delTCTCCCGTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415728	GGAGAGGA others(3): Show GGAGAGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp1 HG02683.hp2 others(3): Show HG00597.hp2 HG01109.hp1 HG02683.hp2 HG03239.hp2 NA18956.hp1 NA18957.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0002c0004 a0011c0011 a0002c0002 a0002c0004 a0011c0011	a0002c0002t0001 a0002c0004t0001 a0011c0011t0001 a0002c0002t0001 a0002c0004t0001 a0011c0011t0001	a0002c0002t0001g0023 a0002c0002t0001g0091 a0002c0002t0001g0096 others(3): Show a0002c0002t0001g0023 a0002c0002t0001g0091 a0002c0002t0001g0096 a0002c0004t0001g0228 a0002c0004t0001g0232 a0011c0011t0001g0117	6	358	0.0168	-10	c.233 others(29): Show c.2334-2445_2334-2436delGTCTCCTCTC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415748	CGAGAGGA others(3): Show CGAGAGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG01167.hp2 others(13): Show HG00323.hp1 HG00621.hp2 HG01167.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG03486.hp1 HG03710.hp2 HG06807.hp1 NA18940.hp2 NA18944.hp1 NA18971.hp1 NA18998.hp2 NA19004.hp1 NA19075.hp1 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0003c0003t0001	a0001c0001t0001g0044 a0001c0001t0001g0166 a0001c0001t0001g0218 others(13): Show a0001c0001t0001g0044 a0001c0001t0001g0166 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0356 a0002c0002t0001g0005 a0002c0002t0001g0020 a0002c0002t0005g0022 a0003c0003t0001g0272	16	358	0.0447	-10	c.233 others(29): Show c.2334-2465_2334-2456delCTCTCCTCTC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45421506	CAAACAAA others(3): Show CAAACAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0294 a0003c0003t0001g0294	1	358	0.0028	-10	c.205 others(29): Show c.2050-1622_2050-1613delTTTTTTGTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45425186	TAGGGGCT others(3): Show TAGGGGCTCAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0220 a0001c0001t0001g0221	2	358	0.0056	-10	c.205 others(29): Show c.2050-5302_2050-5293delTTGAGCCCCT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45445550	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0055 a0003c0003t0001g0055	1	358	0.0028	-10	c.205 others(31): Show c.2050-25666_2050-25657delTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45465000	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0117 a0011c0011t0001g0117	1	358	0.0028	-10	c.204 others(31): Show c.2049+11983_2049+11992delGTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45504044	AAAATATT others(3): Show AAAATATTTTC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03834.hp1 HG03490.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0181 a0001c0001t0001g0182	2	358	0.0056	-10	c.187 others(31): Show c.1875-15723_1875-15714delGAAAATATTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45505807	AATCTAAA others(3): Show AATCTAAAACC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00621.hp1 others(45): Show HG00140.hp2 HG00558.hp2 HG00621.hp1 HG00735.hp1 HG01192.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01952.hp1 HG02080.hp1 HG02145.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp1 NA18941.hp1 NA18950.hp1 NA18952.hp2 NA18962.hp1 NA18963.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18998.hp1 NA19030.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19082.hp1 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0010 a0012	a0001c0001 a0001c0005 a0002c0004 others(4): Show a0001c0001 a0001c0005 a0002c0004 a0003c0003 a0005c0006 a0010c0009 a0012c0012	a0001c0001t0001 a0001c0005t0001 a0002c0004t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0002c0004t0001 a0003c0003t0001 a0005c0006t0001 a0010c0009t0001 a0012c0012t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 others(45): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0321 a0001c0001t0001g0328 a0001c0005t0001g0139 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0115 a0003c0003t0001g0295 a0003c0003t0001g0296 a0005c0006t0001g0160 a0005c0006t0001g0161 a0010c0009t0001g0108 a0012c0012t0001g0162	48	358	0.1341	-10	c.187 others(31): Show c.1875-17486_1875-17477delGGTTTTAGAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45521286	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01069.hp2 others(20): Show HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG06807.hp1 NA19043.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0008 a0002c0016	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0002c0004t0001 a0002c0008t0001 a0002c0016t0001	a0001c0001t0001g0249 a0002c0002t0001g0005 a0002c0002t0001g0006 others(20): Show a0001c0001t0001g0249 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0005g0022 a0002c0004t0001g0113 a0002c0008t0001g0123 a0002c0016t0001g0024	23	358	0.0643	-10	c.187 others(31): Show c.1874+25436_1874+25445delGTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45545283	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp1 HG01169.hp1 others(28): Show HG00738.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0004c0020 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0004t0001 a0004c0020t0001 a0010c0009t0001	a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0073 others(28): Show a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0134 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0205 a0002c0002t0001g0136 a0002c0004t0001g0106 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0113 a0002c0004t0001g0115 a0002c0004t0001g0251 a0004c0020t0001g0082 a0010c0009t0001g0108	31	358	0.0866	-10	c.187 others(29): Show c.1874+1439_1874+1448delTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRCAP_chr16_30694171_30746409	30735136	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01496.hp2 HG02738.hp2 others(1): Show HG00408.hp2 HG01496.hp2 HG02738.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0002g0064 a0001c0001t0002g0068 others(1): Show a0001c0001t0001g0086 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0080	4	208	0.0192	-10	c.672 others(27): Show c.6729+540_6729+549delTTTTTTTTTT	SRCAP	ENSG00000080603.17	transcript	ENST00000262518.9	protein_coding	31/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRCAP_chr16_30694171_30746409	30735567	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG02280.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0146 a0001c0001t0001g0147	2	208	0.0096	-10	c.673 others(27): Show c.6730-620_6730-611delTTTTTTTTTT	SRCAP	ENSG00000080603.17	transcript	ENST00000262518.9	protein_coding	31/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRCIN1_chr17_38525031_38610952	38566838	GTGTTTTG others(3): Show GTGTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03654.hp1 HG02109.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0248 a0001c0001t0006g0252 a0001c0001t0006g0248 a0001c0001t0006g0252	2	261	0.0077	-10	c.345 others(27): Show c.345+1363_345+1372delAAACAAAACA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRC_chr20_37341140_37411050	37359754	TCCTGGGT others(3): Show TCCTGGGTGCA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02258.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0015 a0001c0001t0013 a0001c0001t0015	a0001c0001t0013g0051 a0001c0001t0015g0192 a0001c0001t0013g0051 a0001c0001t0015g0192	2	282	0.0071	-10	c.-24 others(29): Show c.-246-5444_-246-5435delGTGCACCTGG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37360216	CTCTTTTT others(3): Show CTCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01169.hp2 others(1): Show HG00738.hp2 HG01167.hp2 HG01169.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0010 a0001c0001t0001 a0001c0003t0010	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0003t0010g0222	4	282	0.0142	-10	c.-24 others(29): Show c.-246-4986_-246-4977delCTTTTTTTTT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37365319	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG02055.hp1 others(27): Show HG00597.hp2 HG00642.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 NA18747.hp2 NA18980.hp1 NA19007.hp1 NA19009.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0050 a0001c0001t0051	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(27): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0134 a0001c0001t0001g0186 a0001c0001t0002g0006 a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0275 a0001c0001t0003g0018 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0004g0219 a0001c0001t0004g0260 a0001c0001t0004g0269 a0001c0001t0012g0203 a0001c0001t0013g0051 a0001c0001t0013g0072 a0001c0001t0013g0226 a0001c0001t0020g0043 a0001c0001t0020g0227 a0001c0001t0022g0272 a0001c0001t0031g0232 a0001c0001t0032g0019 a0001c0001t0050g0191 a0001c0001t0051g0056	30	282	0.1064	-10	c.-17 others(25): Show c.-173+85_-173+94delACACACACAC	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37373017	TATATATA others(3): Show TATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0049 a0001c0004t0049	a0001c0004t0049g0263 a0001c0004t0049g0263	1	282	0.0036	-10	c.-17 others(29): Show c.-173+7756_-173+7765delTACACATATA	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37373055	TATATACA others(3): Show TATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02486.hp1 others(3): Show HG01884.hp1 HG02258.hp1 HG02486.hp1 HG02922.hp2 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0013 a0001c0001t0047 a0001c0001t0048 others(1): Show a0001c0001t0013 a0001c0001t0047 a0001c0001t0048 a0001c0007t0041	a0001c0001t0013g0051 a0001c0001t0013g0072 a0001c0001t0013g0226 others(3): Show a0001c0001t0013g0051 a0001c0001t0013g0072 a0001c0001t0013g0226 a0001c0001t0047g0238 a0001c0001t0048g0168 a0001c0007t0041g0011	6	282	0.0213	-10	c.-17 others(29): Show c.-173+7794_-173+7803delCACACATATA	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37379942	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0206 a0001c0001t0012g0206	1	282	0.0036	-10	c.-17 others(29): Show c.-172-2661_-172-2652delAAAAAAAAAA	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37408052	CCCTCCTT others(3): Show CCCTCCTTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	282	0.0036	-10	c.46 others(21): Show c.4674_*4683delCCTCCTTCGG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding		2003		chr20	TogoVar
SRC_chr20_37341140_37411050	37410417	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00609.hp2 others(25): Show HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01884.hp1 HG02129.hp1 HG02129.hp2 HG02523.hp2 HG03041.hp1 NA18747.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18962.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp2 NA18994.hp1 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0026 a0001c0001t0030 a0001c0001t0037 a0001c0001t0048 a0001c0001t0052	a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0099 others(25): Show a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0099 a0001c0001t0001g0213 a0001c0001t0002g0080 a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0218 a0001c0001t0003g0040 a0001c0001t0003g0048 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0111 a0001c0001t0003g0149 a0001c0001t0003g0189 a0001c0001t0003g0221 a0001c0001t0012g0203 a0001c0001t0012g0205 a0001c0001t0012g0206 a0001c0001t0012g0207 a0001c0001t0026g0059 a0001c0001t0030g0064 a0001c0001t0037g0166 a0001c0001t0048g0168 a0001c0001t0052g0141	28	282	0.0993	-10	c.70 others(21): Show c.7039_*7048delTGTGTGTGTA	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding		4368		chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31554924	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02622.hp1 HG00642.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0344 a0002c0002t0001g0058 a0001c0001t0001g0344 a0002c0002t0001g0058	2	386	0.0052	-10	c.282 others(29): Show c.282-21168_282-21159delACACACACAC	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31559836	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG03209.hp1 others(1): Show HG01243.hp2 HG02258.hp2 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0170 a0001c0001t0006g0015 a0001c0001t0006g0162 a0001c0001t0001g0170 a0001c0001t0006g0015 a0001c0001t0006g0162	4	386	0.0104	-10	c.281 others(29): Show c.281+20774_281+20783delTGTGTGTGTG	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A3_chr4_55341242_55378100	55343115	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG01069.hp1 others(47): Show HG00140.hp1 HG00423.hp1 HG01069.hp1 HG01074.hp2 HG01255.hp1 HG01256.hp1 HG01517.hp1 HG01517.hp2 HG01978.hp1 HG02135.hp1 HG02630.hp1 HG03239.hp1 HG03491.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18969.hp1 NA18974.hp2 NA18978.hp2 NA18990.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19054.hp1 NA19062.hp1 NA19062.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0046 a0001c0001t0071 a0002c0002t0019 a0002c0002t0035	a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0175 others(40): Show a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0175 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0003g0080 a0001c0001t0004g0056 a0001c0001t0004g0061 a0001c0001t0006g0032 a0001c0001t0007g0004 a0001c0001t0007g0267 a0001c0001t0008g0261 a0001c0001t0009g0044 a0001c0001t0011g0039 a0001c0001t0011g0252 a0001c0001t0014g0244 a0001c0001t0014g0253 a0001c0001t0014g0254 a0001c0001t0014g0257 a0001c0001t0018g0004 a0001c0001t0018g0228 a0001c0001t0018g0235 a0001c0001t0018g0255 a0001c0001t0046g0259 a0001c0001t0071g0004 a0002c0002t0019g0034 a0002c0002t0019g0212 a0002c0002t0035g0213	50	384	0.1302	-10	c.-32 others(21): Show c.-3221_-3212delAAAAAAAAAA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding		3126		chr4	TogoVar
SRD5A3_chr4_55341242_55378100	55344846	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 NA20905.hp2 HG01261.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0075 a0001c0001t0001 a0001c0001t0075	a0001c0001t0001g0075 a0001c0001t0075g0074 a0001c0001t0001g0075 a0001c0001t0075g0074	2	384	0.0052	-10	c.-14 others(21): Show c.-1490_-1481delAAAAAAAAAA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding		1395		chr4	TogoVar
SRD5A3_chr4_55341242_55378100	55370431	TCACACAC others(3): Show TCACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG03139.hp2 HG02257.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0072 a0001c0001t0041 a0001c0001t0072	a0001c0001t0041g0082 a0001c0001t0072g0196 a0001c0001t0041g0082 a0001c0001t0072g0196	2	384	0.0052	-10	c.37 others(19): Show c.373_*382delCACACACACA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	5/5	373	INFO_REALIGN_3_PRIME	chr4	TogoVar
SREBF1_chr17_17806334_17841986	17808386	ATTATTTT others(3): Show ATTATTTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02970.hp2 HG03516.hp2 HG01243.hp2 HG02970.hp2 HG03516.hp2	a0001 a0011 a0001 a0011	a0001c0004 a0011c0012 a0001c0004 a0011c0012	a0001c0004t0022 a0001c0004t0035 a0011c0012t0022 a0001c0004t0022 a0001c0004t0035 a0011c0012t0022	a0001c0004t0022g0133 a0001c0004t0035g0261 a0011c0012t0022g0260 a0001c0004t0022g0133 a0001c0004t0035g0261 a0011c0012t0022g0260	3	352	0.0085	-10	c.42 others(21): Show c.4226_*4235delAATAAAATAA	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		2947		chr17	TogoVar
SREBF1_chr17_17806334_17841986	17808409	ATTTTATT others(3): Show ATTTTATTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02257.hp2 others(7): Show HG01891.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0008 a0001c0001 a0001c0002 a0005c0008	a0001c0001t0002 a0001c0001t0017 a0001c0002t0005 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0002t0005 a0001c0002t0023 a0005c0008t0005	a0001c0001t0002g0001 a0001c0001t0017g0286 a0001c0002t0005g0136 others(7): Show a0001c0001t0002g0001 a0001c0001t0017g0286 a0001c0002t0005g0136 a0001c0002t0005g0138 a0001c0002t0005g0141 a0001c0002t0005g0176 a0001c0002t0023g0142 a0001c0002t0023g0143 a0005c0008t0005g0137 a0005c0008t0005g0140	10	352	0.0284	-10	c.42 others(21): Show c.4203_*4212delAATAATAAAA	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		2924		chr17	TogoVar
SREBF1_chr17_17806334_17841986	17808414	ATTATTTT others(3): Show ATTATTTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG02004.hp1 others(3): Show HG00438.hp1 HG00609.hp2 HG02004.hp1 HG02015.hp1 HG03834.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0162 a0001c0001t0001g0170 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0204 a0001c0001t0001g0217	6	352	0.0171	-10	c.41 others(21): Show c.4198_*4207delAATAAAATAA	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		2919		chr17	TogoVar
SREBF1_chr17_17806334_17841986	17822081	TAGACTAC others(3): Show TAGACTACCTC	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0019 a0019	a0019c0013 a0019c0013	a0019c0013t0039 a0019c0013t0039	a0019c0013t0039g0303 a0019c0013t0039g0303	1	352	0.0028	-10	c.92- others(25): Show c.92-1570_92-1561delGAGGTAGTCT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17823654	GCCCGCCC others(3): Show GCCCGCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG02129.hp1 others(12): Show HG00609.hp1 HG02056.hp1 HG02129.hp1 HG02135.hp2 NA18949.hp1 NA18952.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18999.hp1 NA19004.hp1 NA19068.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0004c0006t0001	a0001c0001t0001g0166 a0001c0001t0003g0028 a0001c0001t0003g0297 others(11): Show a0001c0001t0001g0166 a0001c0001t0003g0028 a0001c0001t0003g0297 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0305 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0010g0281 a0001c0001t0010g0298 a0001c0001t0010g0299 a0001c0001t0013g0306 a0004c0006t0001g0304	15	352	0.0426	-10	c.92- others(25): Show c.92-3143_92-3134delGCGGGGCGGG	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17833420	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01106.hp2 others(5): Show HG00140.hp1 HG00140.hp2 HG01106.hp2 HG01515.hp1 HG01993.hp1 HG02273.hp1 HG04204.hp1 NA18984.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0023 a0001c0001 a0018c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0018c0023t0002	a0001c0001t0001g0100 a0001c0001t0002g0038 a0001c0001t0002g0039 others(5): Show a0001c0001t0001g0100 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0019g0065 a0018c0023t0002g0037	8	352	0.0227	-10	c.91+ others(25): Show c.91+3297_91+3306delTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17833444	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp2 HG06807.hp1 HG01884.hp1 HG02976.hp2 HG06807.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0008 a0006c0011t0008 a0001c0001t0008 a0006c0011t0008	a0001c0001t0008g0087 a0001c0001t0008g0093 a0006c0011t0008g0088 a0001c0001t0008g0087 a0001c0001t0008g0093 a0006c0011t0008g0088	3	352	0.0085	-10	c.91+ others(25): Show c.91+3273_91+3282delATATTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17833446	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0089 a0001c0001t0029g0089	1	352	0.0028	-10	c.91+ others(25): Show c.91+3271_91+3280delATATATTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17833448	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03239.hp2 HG00639.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0008g0091 a0001c0001t0008g0092	2	352	0.0057	-10	c.91+ others(25): Show c.91+3269_91+3278delATATATATTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17833450	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18981.hp1 NA18999.hp1 HG02135.hp2 NA18981.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0301 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0301 a0001c0001t0003g0307 a0001c0001t0003g0308	3	352	0.0085	-10	c.91+ others(25): Show c.91+3267_91+3276delATATATATAT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF2_chr22_41828105_41912305	41844029	TACATACA others(3): Show TACATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0052	1	336	0.0030	-10	c.88+ others(27): Show c.88+10675_88+10684delTACACACACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41852728	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0043 a0004c0004t0011g0043	1	336	0.0030	-10	c.89- others(27): Show c.89-14081_89-14072delTTTTTTTTTT	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41864223	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01070.hp2 others(2): Show HG00323.hp2 HG01069.hp1 HG01070.hp2 HG02897.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0094 a0001c0001t0001g0232 a0001c0001t0001g0235 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0002c0002t0003g0053	5	336	0.0149	-10	c.89- others(25): Show c.89-2578_89-2569delTATATATATA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41864253	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	336	0.0030	-10	c.89- others(25): Show c.89-2576_89-2567delTATATATACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41864255	TATATATA others(3): Show TATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01109.hp1 others(6): Show HG00408.hp2 HG00423.hp2 HG01109.hp1 HG01934.hp1 HG01943.hp1 HG02004.hp1 NA18975.hp1 NA19000.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0032 others(6): Show a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0002g0036	9	336	0.0268	-10	c.89- others(25): Show c.89-2574_89-2565delTATATACACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41864257	TATATACA others(3): Show TATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03579.hp1 HG03139.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0005 a0002c0005t0006 a0002c0002t0005 a0002c0005t0006	a0002c0002t0005g0016 a0002c0005t0006g0013 a0002c0002t0005g0016 a0002c0005t0006g0013	2	336	0.0060	-10	c.89- others(25): Show c.89-2572_89-2563delTATACACACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41910365	CGTGCGCC others(3): Show CGTGCGCCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00642.hp2 others(42): Show HG00280.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01981.hp2 HG02004.hp2 HG02071.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18962.hp1 NA18969.hp1 NA18975.hp2 NA18982.hp1 NA18984.hp2 NA19000.hp2 NA19074.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0015 others(1): Show a0001c0001 a0002c0002 a0002c0015 a0002c0016	a0001c0001t0002 a0001c0001t0015 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0015 a0002c0002t0002 a0002c0015t0002 a0002c0016t0002	a0001c0001t0002g0257 a0001c0001t0002g0327 a0001c0001t0015g0319 others(41): Show a0001c0001t0002g0257 a0001c0001t0002g0327 a0001c0001t0015g0319 a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0036 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0117 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0163 a0002c0015t0002g0069 a0002c0016t0002g0083	45	336	0.1339	-10	c.47 others(21): Show c.4706_*4715delGTGCGCCCAG	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding		3061		chr22	TogoVar
SREK1IP1_chr5_64713148_64773691	64743222	AATGTTTA others(3): Show AATGTTTAGAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02145.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0138 a0001c0001t0016g0183 a0001c0001t0016g0138 a0001c0001t0016g0183	2	342	0.0059	-10	c.62- others(25): Show c.62-2032_62-2023delATCTAAACAT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	2/4			chr5	TogoVar

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