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
STXBP5L_chr3_120903205_121429761	121191533	GGGGAGAG others(5): Show GGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	288	0.0035	-12	c.878 others(31): Show c.878-14373_878-14362delGAGGGAGAGGGA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121241376	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03098.hp1 HG02451.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0246 a0001c0001t0021g0208 a0001c0001t0001g0246 a0001c0001t0021g0208	2	64	0.0313	-12	c.140 others(29): Show c.1400+892_1400+903delACACACACACAC	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121297202	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	27	0.0370	-12	c.211 others(33): Show c.2110+17273_2110+17284delTGTGTGTGTGTG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121314584	GGAGGGAG others(5): Show GGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG01109.hp1 others(47): Show HG00438.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01496.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02922.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 NA18944.hp2 NA18947.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18995.hp2 NA19000.hp2 NA19004.hp1 NA19030.hp1 NA19078.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0024	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(47): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0002g0026 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0287 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0006g0242 a0001c0001t0008g0027 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0010g0063 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0024g0049	50	66	0.7576	-12	c.211 others(31): Show c.2111-3851_2111-3840delGGAGAGGGAGAG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121392770	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01261.hp2 others(5): Show HG01070.hp1 HG01071.hp1 HG01261.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03669.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0015 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0015 a0003c0003t0001 a0003c0003t0028	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0015g0216 a0003c0003t0001g0202 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0028g0201	8	51	0.1569	-12	c.258 others(33): Show c.2587+11265_2587+11276delATATATATATAT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121413482	AGTATGGT others(5): Show AGTATGGTTCTAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	288	0.0035	-12	c.311 others(29): Show c.3114+164_3114+175delGGTTCTAGGTAT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121416471	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00735.hp2 others(61): Show HG00280.hp1 HG00438.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG02083.hp1 HG02165.hp2 HG02523.hp2 HG02723.hp2 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG04199.hp2 NA18906.hp2 NA18944.hp2 NA18955.hp1 NA18957.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA19000.hp2 NA19004.hp1 NA19043.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0024 a0003c0003t0001 a0003c0003t0028	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(60): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0115 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0011g0020 a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0023 a0001c0001t0012g0125 a0001c0001t0012g0126 a0001c0001t0012g0127 a0001c0001t0016g0001 a0001c0001t0024g0049 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0169 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0028g0201	64	68	0.9412	-12	c.322 others(29): Show c.3226+530_3226+541delTATTTATTTATT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147213430	ATATATGT others(5): Show ATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0306 a0001c0001t0017g0306	1	344	0.0029	-12	c.248 others(29): Show c.248+7364_248+7375delATATGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213432	ATATGTGT others(5): Show ATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00558.hp2 others(40): Show HG00099.hp1 HG00544.hp1 HG00558.hp2 HG00673.hp1 HG00738.hp1 HG01071.hp1 HG01099.hp1 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG02027.hp2 HG02083.hp1 HG02155.hp2 HG02293.hp2 HG02602.hp1 HG03017.hp1 HG03453.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp1 NA18946.hp2 NA18961.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18982.hp2 NA18985.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19011.hp1 NA19058.hp2 NA19062.hp1 NA19066.hp2 NA19081.hp2 NA19083.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 a0002c0002t0002 a0005c0010t0027	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0032 others(39): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0003g0203 a0001c0008t0001g0344 a0001c0008t0001g0345 a0002c0002t0002g0209 a0002c0002t0002g0212 a0005c0010t0027g0229	43	225	0.1911	-12	c.248 others(29): Show c.248+7366_248+7377delATGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213434	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18960.hp1 NA18982.hp1 others(5): Show HG00423.hp2 NA18960.hp1 NA18982.hp1 NA19000.hp2 NA19012.hp2 NA19058.hp1 NA19062.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0002 a0002c0002t0032 a0002c0014t0002 a0002c0002t0002 a0002c0002t0032 a0002c0014t0002	a0002c0002t0002g0021 a0002c0002t0002g0090 a0002c0002t0002g0122 others(5): Show a0002c0002t0002g0021 a0002c0002t0002g0090 a0002c0002t0002g0122 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0139 a0002c0002t0032g0346 a0002c0014t0002g0138	8	242	0.0331	-12	c.248 others(29): Show c.248+7399_248+7410delTGTGTGTGTGTG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147230941	CTGGTGAT others(5): Show CTGGTGATGATGA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02809.hp2 HG03130.hp2 others(2): Show HG01081.hp2 HG02809.hp2 HG03130.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0001t0017 a0001c0004t0004 a0001c0001t0011 a0001c0001t0017 a0001c0004t0004	a0001c0001t0011g0292 a0001c0001t0017g0306 a0001c0001t0017g0307 others(2): Show a0001c0001t0011g0292 a0001c0001t0017g0306 a0001c0001t0017g0307 a0001c0001t0017g0308 a0001c0004t0004g0305	5	348	0.0144	-12	c.249 others(29): Show c.249-4288_249-4277delATGATGGTGATG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147244987	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp1 HG02486.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0034 a0001c0003t0002g0035	2	265	0.0075	-12	c.431 others(29): Show c.431+5730_431+5741delTTTTTTTTTTTT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147372406	CCTTTTTT others(5): Show CCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02965.hp2 NA19000.hp2 HG02615.hp1 HG02965.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0065 a0002c0002t0002g0122 a0002c0002t0008g0172 a0002c0002t0002g0065 a0002c0002t0002g0122 a0002c0002t0008g0172	3	21	0.1429	-12	c.308 others(31): Show c.3082-1324_3082-1313delCTTTTTTTTTTT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	25/27			chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0151 a0002c0002t0002g0151	1	127	0.0079	-12	c.72 others(23): Show c.7263_*7274delGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP6_chr14_24804454_25055147	24962287	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00639.hp2 others(15): Show HG00140.hp2 HG00323.hp1 HG00639.hp2 HG01978.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02818.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03704.hp2 HG03710.hp1 NA18522.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 others(14): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0024 a0001c0001t0026 a0001c0001t0044 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0092 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0108 a0001c0001t0113 a0001c0001t0115	a0001c0001t0007g0064 a0001c0001t0008g0206 a0001c0001t0008g0217 others(15): Show a0001c0001t0007g0064 a0001c0001t0008g0206 a0001c0001t0008g0217 a0001c0001t0012g0219 a0001c0001t0024g0213 a0001c0001t0026g0150 a0001c0001t0044g0223 a0001c0001t0080g0169 a0001c0001t0081g0168 a0001c0001t0082g0177 a0001c0001t0084g0183 a0001c0001t0092g0176 a0001c0001t0098g0231 a0001c0001t0099g0208 a0001c0001t0100g0226 a0001c0001t0108g0218 a0001c0001t0113g0211 a0001c0001t0115g0230	18	43	0.4186	-12	c.154 others(31): Show c.154+12366_154+12377delTAAATAAATAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	25036214	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp1 HG02055.hp1 others(11): Show HG01099.hp1 HG01243.hp1 HG02055.hp1 HG02145.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02886.hp2 HG02965.hp1 HG03098.hp1 HG03471.hp2 HG03540.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0038 a0001c0001t0039 others(9): Show a0001c0001t0018 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0056 a0001c0001t0077 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0088 a0001c0001t0090 a0001c0001t0094	a0001c0001t0018g0012 a0001c0001t0038g0185 a0001c0001t0039g0178 others(11): Show a0001c0001t0018g0012 a0001c0001t0038g0185 a0001c0001t0039g0178 a0001c0001t0039g0188 a0001c0001t0040g0179 a0001c0001t0040g0181 a0001c0001t0056g0011 a0001c0001t0077g0182 a0001c0001t0082g0177 a0001c0001t0083g0187 a0001c0001t0084g0183 a0001c0001t0088g0186 a0001c0001t0090g0184 a0001c0001t0094g0180	14	81	0.1728	-12	c.-33 others(31): Show c.-33+13652_-33+13663delTTTTTTTTTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	25052434	GAAAACAA others(5): Show GAAAACAAAAACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02622.hp2 others(6): Show HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG03139.hp1 HG03453.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 others(5): Show a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0029 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0076	a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0017g0143 others(6): Show a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0017g0143 a0001c0001t0018g0151 a0001c0001t0029g0142 a0001c0001t0063g0145 a0001c0001t0064g0146 a0001c0001t0065g0144 a0001c0001t0076g0139	9	239	0.0377	-12	c.-26 others(23): Show c.-2601_-2590delTGTTTTTGTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding		2288		chr14	TogoVar
STYK1_chr12_10613923_10679052	10614974	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02723.hp1 others(2): Show HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0240 a0001c0001t0012g0071 a0001c0001t0012g0074 others(2): Show a0001c0001t0004g0240 a0001c0001t0012g0071 a0001c0001t0012g0074 a0001c0001t0012g0078 a0001c0001t0012g0220	5	38	0.1316	-12	c.51 others(23): Show c.5158_*5169delTTTTTTTTTTTT	STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding		3948		chr12	TogoVar
STYK1_chr12_10613923_10679052	10630032	GGAGAGAG others(5): Show GGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02055.hp2 HG02451.hp1 HG01169.hp2 HG02055.hp2 HG02451.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0005 a0005c0009 a0002c0002 a0003c0005 a0005c0009	a0002c0002t0002 a0003c0005t0013 a0005c0009t0009 a0002c0002t0002 a0003c0005t0013 a0005c0009t0009	a0002c0002t0002g0222 a0003c0005t0013g0242 a0005c0009t0009g0167 a0002c0002t0002g0222 a0003c0005t0013g0242 a0005c0009t0009g0167	3	9	0.3333	-12	c.452 others(27): Show c.452-370_452-359delTCTCTCTCTCTC	STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding	5/10			chr12	TogoVar
STYK1_chr12_10613923_10679052	10663598	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00639.hp2 others(67): Show HG00323.hp2 HG00597.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp2 HG01192.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02148.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18942.hp2 NA18966.hp1 NA18967.hp1 NA18981.hp1 NA18989.hp2 NA18999.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19077.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0003c0005 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0002c0002t0001 a0002c0003t0005 a0002c0003t0008 a0002c0003t0013 a0002c0004t0002 a0002c0006t0028 a0003c0005t0011 a0005c0009t0009	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0024 others(62): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0248 a0001c0001t0001g0277 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0093 a0001c0001t0002g0108 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0163 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0265 a0001c0001t0002g0276 a0001c0001t0003g0010 a0001c0001t0003g0105 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0004g0002 a0001c0001t0004g0035 a0001c0001t0004g0041 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0069 a0001c0001t0004g0128 a0001c0001t0004g0133 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0313 a0001c0001t0007g0045 a0001c0001t0009g0106 a0001c0001t0010g0225 a0001c0001t0016g0047 a0001c0001t0018g0068 a0001c0001t0022g0328 a0002c0002t0001g0051 a0002c0002t0001g0230 a0002c0003t0005g0097 a0002c0003t0008g0007 a0002c0003t0008g0027 a0002c0003t0008g0028 a0002c0003t0008g0031 a0002c0003t0008g0032 a0002c0003t0013g0029 a0002c0004t0002g0053 a0002c0004t0002g0054 a0002c0006t0028g0139 a0003c0005t0011g0124 a0005c0009t0009g0167	70	114	0.6140	-12	c.-19 others(33): Show c.-195+10356_-195+10367delTTTTTTTTTTTT	STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding	1/10			chr12	TogoVar
STYK1_chr12_10613923_10679052	10674883	GCGCGCGC others(5): Show GCGCGCGCGCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18988.hp1 NA18995.hp1 others(1): Show NA18960.hp1 NA18988.hp1 NA18995.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0009 a0001c0001t0002g0099 a0002c0004t0001g0066 a0001c0001t0002g0009 a0001c0001t0002g0099 a0002c0004t0001g0066	4	365	0.0110	-12	c.-11 others(23): Show c.-1124_-1113delTGTGCGCGCGCG	STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding		832		chr12	TogoVar
STYXL1_chr7_75991342_76053000	75999499	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	354	0.0028	-12	c.810 others(29): Show c.810+1379_810+1390delTACACACACACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	8/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76008199	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18990.hp1 NA19085.hp2 HG04199.hp1 NA18990.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342	3	57	0.0526	-12	c.454 others(29): Show c.454-2807_454-2796delTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	5/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76026192	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0069 a0001c0005t0002g0069	1	8	0.1250	-12	c.165 others(29): Show c.165+2438_165+2449delTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	3/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76042390	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	22	0.0455	-12	c.-5+ others(27): Show c.-5+5260_-5+5271delAAAAAAAAAAAA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046274	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG02559.hp2 others(5): Show HG00099.hp2 HG00639.hp2 HG02559.hp2 HG03471.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0008	a0001c0001t0004 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0004 a0001c0002t0002 a0001c0003t0001 a0005c0008t0001	a0001c0001t0004g0037 a0001c0002t0002g0070 a0001c0002t0002g0079 others(5): Show a0001c0001t0004g0037 a0001c0002t0002g0070 a0001c0002t0002g0079 a0001c0003t0001g0307 a0001c0003t0001g0311 a0001c0003t0001g0314 a0001c0003t0001g0320 a0005c0008t0001g0315	8	218	0.0367	-12	c.-5+ others(27): Show c.-5+1376_-5+1387delCACACACACACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046329	TGTGTGTG others(5): Show TGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0282	1	347	0.0029	-12	c.-5+ others(27): Show c.-5+1321_-5+1332delGCACACACACAC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046335	TGTGTGCG others(5): Show TGTGTGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp2 NA19068.hp2 HG03471.hp1 HG03516.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0206 a0001c0001t0001g0259 a0001c0003t0001g0294 a0001c0001t0001g0206 a0001c0001t0001g0259 a0001c0003t0001g0294	3	335	0.0090	-12	c.-5+ others(27): Show c.-5+1315_-5+1326delGCGCGCGCACAC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL2_chr1_167089075_167134165	167099791	CTACATAT others(5): Show CTACATATGTGCA	C C	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	360	0.0028	-12	c.110 others(29): Show c.110+4833_110+4844delTACATATGTGCA	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	2/5			chr1	TogoVar
STYXL2_chr1_167089075_167134165	167111469	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18985.hp1 NA19060.hp1 others(1): Show NA18956.hp2 NA18985.hp1 NA19060.hp1 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0124 a0001c0001t0001g0186 a0001c0001t0001g0187 others(1): Show a0001c0001t0001g0124 a0001c0001t0001g0186 a0001c0001t0001g0187 a0003c0003t0002g0252	4	263	0.0152	-12	c.111 others(29): Show c.111-2207_111-2196delTATATATATATA	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
STYXL2_chr1_167089075_167134165	167120829	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp1 HG01433.hp1 others(6): Show HG01074.hp1 HG01358.hp1 HG01433.hp1 HG01981.hp2 HG02523.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp2 HG03942.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0029 others(1): Show a0001c0001 a0002c0002 a0002c0029 a0003c0003	a0001c0001t0001 a0002c0002t0004 a0002c0029t0004 others(1): Show a0001c0001t0001 a0002c0002t0004 a0002c0029t0004 a0003c0003t0002	a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0178 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0178 a0002c0002t0004g0003 a0002c0002t0004g0029 a0002c0002t0004g0180 a0002c0002t0004g0183 a0002c0029t0004g0220 a0003c0003t0002g0193	9	10	0.9000	-12	c.655 others(29): Show c.655+1409_655+1420delTATATATATATA	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
STYX_chr14_52725166_52779989	52759878	TTATTCAA others(5): Show TTATTCAAGTTTA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0056 a0001c0001t0029g0056	1	368	0.0027	-12	c.504 others(27): Show c.504+128_504+139delTCAAGTTTATAT	STYX	ENSG00000198252.12	transcript	ENST00000354586.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
STYX_chr14_52725166_52779989	52779724	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG06807.hp1 HG02818.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0313 a0001c0001t0020g0315 a0001c0001t0020g0313 a0001c0001t0020g0315	2	23	0.0870	-12	c.86 others(23): Show c.8619_*8630delAAAAAAAAAAAA	STYX	ENSG00000198252.12	transcript	ENST00000354586.5	protein_coding		4736		chr14	TogoVar
SUCLA2_chr13_47937656_48006273	47945675	CACACACA others(5): Show CACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp1 HG03225.hp2 others(3): Show HG01884.hp2 HG02886.hp1 HG03225.hp2 NA18945.hp1 NA18959.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0142 a0001c0001t0001g0150	6	356	0.0169	-12	c.131 others(31): Show c.1318-2242_1318-2231delTTGTGTGTGTGT	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47948376	CGTGCATG others(5): Show CGTGCATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02735.hp1 HG00280.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	356	0.0056	-12	c.131 others(29): Show c.1317+552_1317+563delACACACATGCAC	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47951555	AAAAACTG others(5): Show AAAAACTGAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0311 a0002c0002t0001g0311	1	356	0.0028	-12	c.110 others(31): Show c.1108-1964_1108-1953delGTTTTCAGTTTT	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	8/10			chr13	TogoVar
SUCLG2_chr3_67369719_67659612	67527487	GTGAAAGG others(5): Show GTGAAAGGTAGAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01993.hp2 others(13): Show HG00438.hp2 HG00621.hp1 HG01993.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp1 HG02155.hp2 NA18942.hp2 NA18950.hp1 NA18959.hp2 NA18962.hp1 NA18995.hp2 NA19000.hp1 NA19011.hp1 NA19062.hp1 NA19081.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0010 a0001c0001 a0003c0003 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0003c0003t0005 a0010c0010t0001	a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0001g0238 others(13): Show a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0001g0238 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0040 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0006g0139 a0001c0001t0006g0140 a0003c0003t0005g0138 a0010c0010t0001g0023	16	278	0.0576	-12	c.417 others(27): Show c.417+633_417+644delATCTACCTTTCA	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	4/10			chr3	TogoVar
SUCNR1_chr3_151868643_151889619	151874105	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0035 a0001c0001t0026g0035	1	453	0.0022	-12	c.-42 others(27): Show c.-42+401_-42+412delCACACACACATA	SUCNR1	ENSG00000198829.6	transcript	ENST00000362032.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SUCNR1_chr3_151868643_151889619	151883494	ATATATAT others(5): Show ATATATATATATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG02976.hp1 others(3): Show HG02486.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03471.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0026 a0001c0001t0016 a0001c0001t0026	a0001c0001t0016g0023 a0001c0001t0026g0023 a0001c0001t0026g0028 others(2): Show a0001c0001t0016g0023 a0001c0001t0026g0023 a0001c0001t0026g0028 a0001c0001t0026g0035 a0001c0001t0026g0061	6	454	0.0132	-12	c.19 others(23): Show c.1949_*1960delTATATATATGTA	SUCNR1	ENSG00000198829.6	transcript	ENST00000362032.6	protein_coding	3/3	1949	INFO_REALIGN_3_PRIME	chr3	TogoVar
SUDS3_chr12_118371555_118423033	118395216	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG02897.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0253 a0001c0001t0005g0046 a0001c0001t0005g0253	3	130	0.0231	-12	c.517 others(29): Show c.517+3950_517+3961delTTTTTTTTTTTT	SUDS3	ENSG00000111707.12	transcript	ENST00000543473.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
SUFU_chr10_102498972_102638535	102568893	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	254	0.0039	-12	c.454 others(31): Show c.454+18789_454+18800delAAAATATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SUFU_chr10_102498972_102638535	102568911	TATATATA others(5): Show TATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	266	0.0038	-12	c.454 others(31): Show c.454+18815_454+18826delCACATATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SUGCT_chr7_40130005_40865763	40432685	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	3	0.3333	-12	c.817 others(31): Show c.817-16584_817-16573delAAAAAAAAAAAA	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGCT_chr7_40130005_40865763	40485417	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	4	0.2500	-12	c.987 others(31): Show c.987-10853_987-10842delTTTTTTTTTTTT	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGCT_chr7_40130005_40865763	40565981	ACACACAC others(5): Show ACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	8	0.1250	-12	c.108 others(33): Show c.1089+69607_1089+69618delGCACACACACAC	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGCT_chr7_40130005_40865763	40772494	ATATCTAT others(5): Show ATATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG00738.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0002t0001g0001 a0001c0001t0001g0006 a0001c0002t0001g0001	2	3	0.6667	-12	c.115 others(33): Show c.1153+23055_1153+23066delATCTATCTATCT	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGP1_chr19_19271033_19325509	19291889	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG03098.hp2 others(2): Show HG02451.hp2 HG02572.hp2 HG03098.hp2 HG03139.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0019 a0001c0004t0003g0197 a0001c0004t0003g0198 others(1): Show a0001c0004t0003g0019 a0001c0004t0003g0197 a0001c0004t0003g0198 a0001c0004t0003g0199	5	69	0.0725	-12	c.124 others(31): Show c.1243+5088_1243+5099delTGTGTGTGTGTG	SUGP1	ENSG00000105705.16	transcript	ENST00000247001.10	protein_coding	8/13			chr19	TogoVar
SUGP2_chr19_18985893_19038517	18998604	GTGTGTGT others(5): Show GTGTGTGTATGCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02615.hp1 others(7): Show HG02258.hp2 HG02280.hp1 HG02615.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02976.hp1 HG03139.hp2 HG03471.hp1 NA18906.hp2	a0003 a0009 a0003 a0009	a0003c0004 a0009c0011 a0003c0004 a0009c0011	a0003c0004t0006 a0009c0011t0006 a0003c0004t0006 a0009c0011t0006	a0003c0004t0006g0008 a0003c0004t0006g0012 a0003c0004t0006g0035 others(4): Show a0003c0004t0006g0008 a0003c0004t0006g0012 a0003c0004t0006g0035 a0003c0004t0006g0036 a0003c0004t0006g0037 a0003c0004t0006g0039 a0009c0011t0006g0038	10	300	0.0333	-12	c.299 others(31): Show c.2991+2997_2991+3008delTGCATACACACA	SUGP2	ENSG00000064607.17	transcript	ENST00000452918.7	protein_coding	8/10			chr19	TogoVar
SUGP2_chr19_18985893_19038517	19015204	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0036 a0003c0004t0006g0036	1	46	0.0217	-12	c.185 others(31): Show c.1850+3893_1850+3904delATTTATTTATTT	SUGP2	ENSG00000064607.17	transcript	ENST00000452918.7	protein_coding	4/10			chr19	TogoVar
SUGT1_chr13_52647836_52705909	52659814	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18960.hp1 NA18960.hp2 others(1): Show HG00597.hp2 NA18960.hp1 NA18960.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0041 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0041 a0001c0001t0051	a0001c0001t0002g0101 a0001c0001t0003g0104 a0001c0001t0041g0103 others(1): Show a0001c0001t0002g0101 a0001c0001t0003g0104 a0001c0001t0041g0103 a0001c0001t0051g0102	4	113	0.0354	-12	c.328 others(27): Show c.328+586_328+597delTTTTTTTTTTTT	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr13	TogoVar

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