Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCIN_chr7_12565720_12665182	12657572	A A	ATATATTT others(6): Show ATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0253 a0001c0001t0253	a0001c0001t0253g0183 a0001c0001t0253g0183	1	372	0.0027	13	c.48 others(24): Show c.4858_*4859insATATTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657573	T T	TATATATA others(6): Show TATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01517.hp1 NA18945.hp1 NA19010.hp2 others(3): Show HG01517.hp1 NA18945.hp1 NA19010.hp2 NA19064.hp2 NA19080.hp1 NA19090.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0125 a0001c0001t0135 a0001c0001t0138 others(3): Show a0001c0001t0125 a0001c0001t0135 a0001c0001t0138 a0001c0001t0202 a0006c0006t0182 a0006c0006t0187	a0001c0001t0125g0163 a0001c0001t0135g0031 a0001c0001t0138g0075 others(3): Show a0001c0001t0125g0163 a0001c0001t0135g0031 a0001c0001t0138g0075 a0001c0001t0202g0122 a0006c0006t0182g0140 a0006c0006t0187g0096	6	372	0.0161	13	c.48 others(24): Show c.4858_*4859insATATATATATATA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859		chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00738.hp2 others(49): Show HG00140.hp1 HG00642.hp1 HG00738.hp2 HG01081.hp2 HG01167.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG02698.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG03130.hp1 HG03209.hp1 HG03540.hp1 NA18906.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18961.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19068.hp1 NA19081.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008	a0001c0001t0001g0213 a0001c0002t0001g0034 a0001c0002t0001g0036 others(49): Show a0001c0001t0001g0213 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0271 a0001c0002t0005g0039 a0001c0002t0005g0045 a0001c0002t0005g0053 a0001c0002t0008g0100	52	288	0.1806	13	c.687 others(30): Show c.687-4585_687-4573dupAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129053557	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0279 a0002c0003t0004g0279	1	288	0.0035	13	c.103 others(30): Show c.103-9519_103-9507dupAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	2/20			chr4	TogoVar
SCMH1_chr1_41022202_41247306	41058378	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01515.hp1 HG01517.hp2 others(5): Show HG01346.hp1 HG01515.hp1 HG01517.hp2 HG02129.hp2 HG03688.hp1 NA18952.hp1 NA18960.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0235 a0001c0001t0004g0266 a0001c0001t0004g0281 others(5): Show a0001c0001t0001g0235 a0001c0001t0004g0266 a0001c0001t0004g0281 a0001c0001t0005g0273 a0001c0001t0005g0275 a0001c0001t0005g0278 a0001c0001t0005g0282 a0001c0001t0005g0297	8	304	0.0263	13	c.110 others(32): Show c.1106-9501_1106-9489dupAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	10/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41089787	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG01106.hp1 others(28): Show HG00423.hp2 HG00639.hp2 HG01106.hp1 HG01261.hp1 HG01517.hp1 HG02135.hp1 HG02135.hp2 HG02698.hp1 HG02976.hp1 HG03654.hp1 HG03927.hp1 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19083.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(28): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0006g0023 a0001c0001t0006g0166 a0001c0001t0007g0177 a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0011g0002	31	304	0.1020	13	c.746 others(32): Show c.746-14349_746-14337dupAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41114587	A A	ATTTATCT others(6): Show ATTTATCTTTCTAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03098.hp1 HG03688.hp1 HG00280.hp2 HG03098.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0013g0221 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0013g0221	3	304	0.0099	13	c.502 others(30): Show c.502-1062_502-1061insATAGAAAGATAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	7/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41244447	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG01109.hp2 others(9): Show HG00609.hp2 HG00639.hp1 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG01943.hp2 HG01993.hp1 HG02027.hp1 HG02738.hp2 NA18947.hp2 NA18967.hp1 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0006 a0001c0001t0002 a0002c0005t0006	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 others(9): Show a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0002c0005t0006g0110	12	304	0.0395	13	c.-25 others(24): Show c.-2507_-2506insAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding		2142		chr1	TogoVar
SCML1_chrX_17732493_17759985	17735304	T T	TTAAGCCG others(6): Show TTAAGCCGTTAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	281	0.0036	13	c.-24 others(24): Show c.-2493_-2492insTAAGCCGTTAAAG	SCML1	ENSG00000047634.15	transcript	ENST00000380041.8	protein_coding		2188		chrX	TogoVar
SCML4_chr6_107697154_107829313	107751649	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0102 a0001c0005t0011g0102	1	250	0.0040	13	c.157 others(30): Show c.157-1837_157-1836insGAAAGAAAGAAAG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778220	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0127 a0001c0003t0007g0127	1	250	0.0040	13	c.-59 others(30): Show c.-59-5835_-59-5834insATATATATATATA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0130 a0001c0003t0012g0130	1	250	0.0040	13	c.-59 others(30): Show c.-59-5837_-59-5836insATTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03516.hp1 HG02109.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0012 a0001c0001t0006 a0001c0003t0012	a0001c0001t0006g0122 a0001c0003t0012g0132 a0001c0001t0006g0122 a0001c0003t0012g0132	2	250	0.0080	13	c.-59 others(30): Show c.-59-5837_-59-5836insATATTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0010 a0001c0003t0012 a0001c0002t0010 a0001c0003t0012	a0001c0002t0010g0148 a0001c0003t0012g0131 a0001c0002t0010g0148 a0001c0003t0012g0131	2	250	0.0080	13	c.-59 others(30): Show c.-59-5837_-59-5836insATATATTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG02257.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0109 a0001c0008t0001g0003 a0001c0001t0001g0109 a0001c0008t0001g0003	2	250	0.0080	13	c.-59 others(30): Show c.-59-5837_-59-5836insATATATATTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01515.hp2 HG03471.hp1 others(2): Show HG00280.hp2 HG01515.hp2 HG03471.hp1 HG03471.hp2 HG04184.hp2	a0001 a0011 a0001 a0011	a0001c0005 a0001c0007 a0011c0028 a0001c0005 a0001c0007 a0011c0028	a0001c0005t0002 a0001c0007t0001 a0011c0028t0001 a0001c0005t0002 a0001c0007t0001 a0011c0028t0001	a0001c0005t0002g0161 a0001c0005t0002g0336 a0001c0007t0001g0037 others(2): Show a0001c0005t0002g0161 a0001c0005t0002g0336 a0001c0007t0001g0037 a0001c0007t0001g0038 a0011c0028t0001g0245	5	372	0.0134	13	c.228 others(32): Show c.2280+2539_2280+2551dupAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165303270	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19011.hp1 NA19083.hp2 HG00544.hp2 NA19011.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0331 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0331	3	358	0.0084	13	c.387 others(30): Show c.387-4567_387-4555dupTTTTTTTTTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165350460	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	358	0.0028	13	c.292 others(32): Show c.2920-3729_2920-3728insTTTTTTTTTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165350464	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp1 HG01358.hp2 others(6): Show HG01071.hp1 HG01074.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG02897.hp2 NA18951.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0197 a0001c0001t0002g0266 others(6): Show a0001c0001t0002g0072 a0001c0001t0002g0197 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0290	9	358	0.0251	13	c.292 others(32): Show c.2920-3714_2920-3702dupTTTTTTTTTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165392742	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01071.hp1 others(22): Show HG00642.hp1 HG00735.hp1 HG01071.hp1 HG01169.hp1 HG01358.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02109.hp1 HG02300.hp1 HG02602.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 NA18943.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19066.hp1 NA19079.hp1 NA19086.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0002g0057 others(22): Show a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0147 a0001c0001t0002g0175 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0290 a0001c0006t0002g0045 a0001c0006t0002g0355	25	358	0.0698	13	c.29 others(24): Show c.2918_*2919insAAAAAAAAAAAAA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding		439		chr2	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00140.hp2 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0300 a0001c0002t0001g0155 a0001c0002t0001g0300	2	340	0.0059	13	c.454 others(30): Show c.4542+550_4542+551insATATATATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp1 HG02896.hp1 HG02280.hp2 HG02895.hp1 HG02896.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0024 a0001c0001 a0006c0024	a0001c0001t0002 a0006c0024t0001 a0001c0001t0002 a0006c0024t0001	a0001c0001t0002g0033 a0006c0024t0001g0001 a0001c0001t0002g0033 a0006c0024t0001g0001	3	340	0.0088	13	c.454 others(30): Show c.4542+550_4542+551insAAAAAAAAATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555106	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18982.hp1 HG00099.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0289 a0001c0004t0001g0097 a0001c0002t0001g0289 a0001c0004t0001g0097	2	340	0.0059	13	c.454 others(30): Show c.4542+549_4542+550insTATATATATATAT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN8A_chr12_51586233_51817864	51780565	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0137 a0001c0001t0029g0137	1	202	0.0050	13	c.382 others(28): Show c.3820-57_3820-45dupTTTTTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02523.hp1 others(5): Show HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02602.hp1 HG03453.hp2 HG06807.hp2 NA18948.hp2 NA18964.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0024	a0001c0001 a0001c0004 a0004c0008 others(2): Show a0001c0001 a0001c0004 a0004c0008 a0008c0020 a0024c0037	a0001c0001t0001 a0001c0004t0001 a0004c0008t0011 others(3): Show a0001c0001t0001 a0001c0004t0001 a0004c0008t0011 a0004c0008t0019 a0008c0020t0001 a0024c0037t0001	a0001c0001t0001g0031 a0001c0001t0001g0069 a0001c0004t0001g0136 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0069 a0001c0004t0001g0136 a0004c0008t0011g0206 a0004c0008t0019g0002 a0008c0020t0001g0001 a0024c0037t0001g0239	8	296	0.0270	13	c.477 others(30): Show c.4775-124_4775-112dupAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166242256	T T	TGATTATA others(6): Show TGATTATAATGATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18959.hp2 NA18984.hp2 others(2): Show HG03710.hp1 NA18959.hp2 NA18984.hp2 NA19064.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 a0001c0003t0015	a0001c0001t0001g0062 a0001c0001t0015g0149 a0001c0003t0001g0209 others(2): Show a0001c0001t0001g0062 a0001c0001t0015g0149 a0001c0003t0001g0209 a0001c0003t0001g0218 a0001c0003t0015g0063	5	296	0.0169	13	c.362 others(30): Show c.3627+245_3627+246insTATCATTATAATC	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	19/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166255108	A A	AAGAGAGA others(6): Show AAGAGAGAGAGGAG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0004 a0002c0029t0004	a0002c0029t0004g0046 a0002c0029t0004g0046	1	296	0.0034	13	c.335 others(32): Show c.3352-3236_3352-3224dupCTCCTCTCTCTCT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	17/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166297196	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01070.hp2 others(33): Show HG00597.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01358.hp2 HG01361.hp1 HG01943.hp2 HG01978.hp1 HG02027.hp2 HG02071.hp2 HG02135.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02683.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03471.hp2 HG03492.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 NA18906.hp1 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA19002.hp1 NA19066.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0008 a0019 a0027	a0001c0002 a0001c0004 a0001c0005 others(11): Show a0001c0002 a0001c0004 a0001c0005 a0001c0016 a0001c0022 a0001c0026 a0001c0057 a0002c0019 a0002c0029 a0006c0010 a0007c0018 a0008c0045 a0019c0059 a0027c0044	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0035 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0016t0002 a0001c0022t0008 a0001c0026t0008 a0001c0057t0001 a0002c0019t0007 a0002c0029t0004 a0006c0010t0001 a0007c0018t0004 a0008c0045t0001 a0019c0059t0001 a0027c0044t0001	a0001c0002t0001g0123 a0001c0002t0001g0175 a0001c0002t0001g0195 others(33): Show a0001c0002t0001g0123 a0001c0002t0001g0175 a0001c0002t0001g0195 a0001c0002t0001g0200 a0001c0002t0001g0250 a0001c0002t0001g0280 a0001c0002t0002g0227 a0001c0002t0005g0105 a0001c0002t0035g0295 a0001c0004t0001g0134 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0004t0001g0143 a0001c0004t0002g0095 a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0070 a0001c0005t0001g0089 a0001c0005t0002g0144 a0001c0005t0002g0152 a0001c0016t0002g0129 a0001c0022t0008g0106 a0001c0022t0008g0185 a0001c0026t0008g0267 a0001c0057t0001g0016 a0002c0019t0007g0257 a0002c0019t0007g0287 a0002c0029t0004g0213 a0006c0010t0001g0098 a0006c0010t0001g0114 a0006c0010t0001g0249 a0007c0018t0004g0201 a0008c0045t0001g0182 a0019c0059t0001g0126 a0027c0044t0001g0236	36	296	0.1216	13	c.902 others(30): Show c.902-2547_902-2535dupTTTTTTTTTTTTT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	7/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311377	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0004 a0002c0074t0004	a0002c0074t0004g0294 a0002c0074t0004g0294	1	296	0.0034	13	c.258 others(28): Show c.258+121_258+122insTATATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23346200	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG06807.hp1 NA18965.hp1 others(2): Show HG01993.hp1 HG06807.hp1 NA18965.hp1 NA18971.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0145 others(2): Show a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0186 a0001c0003t0001g0292	5	306	0.0163	13	c.-8- others(28): Show c.-8-2375_-8-2363dupTTTTTTTTTTTTT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01516.hp1 HG02897.hp2 others(1): Show HG00099.hp2 HG01516.hp1 HG02897.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0001c0001t0001 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0070 a0001c0001t0006g0121 a0001c0004t0001g0047 others(1): Show a0001c0001t0001g0070 a0001c0001t0006g0121 a0001c0004t0001g0047 a0001c0004t0001g0048	4	320	0.0125	13	c.-22 others(24): Show c.-2261_-2260insAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23193069	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0223 a0001c0009t0017g0223	1	320	0.0031	13	c.809 others(28): Show c.809+543_809+555dupAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	52987007	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18971.hp1 NA18973.hp2 NA18939.hp2 NA18971.hp1 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0109 a0001c0002t0002g0260 a0001c0002t0002g0101 a0001c0002t0002g0109 a0001c0002t0002g0260	3	280	0.0107	13	c.974 others(30): Show c.974-1022_974-1021insATATATATATATA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	10/15			chr1	TogoVar
SCP2_chr1_52922276_53056698	52999815	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02083.hp1 HG04204.hp2 others(9): Show HG00423.hp1 HG02083.hp1 HG04204.hp2 NA18940.hp1 NA18964.hp1 NA18973.hp2 NA18984.hp1 NA18988.hp2 NA19000.hp2 NA19012.hp1 NA19058.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0102 a0001c0002t0002g0104 others(9): Show a0001c0002t0002g0097 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0109 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0129	12	280	0.0429	13	c.108 others(34): Show c.1081+11686_1081+11698dupTTTTTTTTTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037922	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0140 a0001c0004t0004g0140	1	280	0.0036	13	c.133 others(30): Show c.1339-987_1339-986insCACACCACACACA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRG1_chr4_173379701_173404116	173399491	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0032 a0001c0001t0012g0032	1	380	0.0026	13	c.-43 others(22): Show c.-439_-438insCACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding		376		chr4	TogoVar
SCRIB_chr8_143785925_143820773	143789080	A A	AGGTGCTG others(6): Show AGGTGCTGGCGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0187 a0002c0002t0001g0187	1	387	0.0026	13	c.20 others(24): Show c.2070_*2082dupCCTCGCCAGCACC	SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding		1844		chr8	TogoVar
SCRN1_chr7_29915109_29994801	29932651	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03491.hp1 NA18522.hp2 HG02647.hp2 HG03491.hp1 NA18522.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0006 a0003c0003t0009 a0002c0002t0006 a0003c0003t0009	a0002c0002t0006g0223 a0002c0002t0006g0224 a0003c0003t0009g0079 a0002c0002t0006g0223 a0002c0002t0006g0224 a0003c0003t0009g0079	3	274	0.0110	13	c.905 others(30): Show c.905+3892_905+3904dupTTTTTTTTTTTTT	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	6/7			chr7	TogoVar
SCRN1_chr7_29915109_29994801	29994369	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG00741.hp1 others(48): Show HG00558.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03834.hp1 HG03942.hp2 HG06807.hp2 NA18942.hp2 NA18947.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18990.hp1 NA18991.hp1 NA19002.hp1 NA19002.hp2 NA19006.hp2 NA19012.hp1 NA19012.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 others(9): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0002c0002t0004 a0002c0002t0009 a0002c0002t0017 a0002c0002t0034 a0002c0002t0035	a0001c0001t0003g0003 a0001c0001t0003g0233 a0001c0001t0003g0239 others(46): Show a0001c0001t0003g0003 a0001c0001t0003g0233 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0008g0235 a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0013g0236 a0001c0001t0013g0254 a0001c0001t0014g0240 a0001c0001t0015g0238 a0001c0001t0015g0253 a0001c0001t0022g0261 a0001c0001t0023g0266 a0002c0002t0004g0049 a0002c0002t0004g0050 a0002c0002t0004g0051 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0177 a0002c0002t0004g0179 a0002c0002t0004g0180 a0002c0002t0004g0181 a0002c0002t0004g0183 a0002c0002t0004g0184 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0009g0002 a0002c0002t0009g0220 a0002c0002t0017g0232 a0002c0002t0017g0237 a0002c0002t0034g0055 a0002c0002t0035g0231	51	274	0.1861	13	c.-47 others(24): Show c.-4730_-4729insAAAAAAAAAAAAA	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding		4569		chr7	TogoVar
SCTR_chr2_119434843_119529483	119437470	C C	CATCAGAT others(6): Show CATCAGATTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	290	0.0035	13	c.26 others(24): Show c.2634_*2646dupTGTGGAATCTGAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding		2372		chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43192633	T T	TATATATA others(6): Show TATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01346.hp2 HG00741.hp1 HG01346.hp2	a0001 a0004 a0001 a0004	a0001c0042 a0004c0050 a0001c0042 a0004c0050	a0001c0042t0071 a0004c0050t0072 a0001c0042t0071 a0004c0050t0072	a0001c0042t0071g0151 a0004c0050t0072g0247 a0001c0042t0071g0151 a0004c0050t0072g0247	2	280	0.0071	13	c.11 others(26): Show c.11363_*11364insTATATATATATAT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4646		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43258026	A A	AGAAGCCT others(6): Show AGAAGCCTCCCCAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0204 a0002c0002t0050g0204	1	280	0.0036	13	c.727 others(28): Show c.727+180_727+192dupCTGGGGAGGCTTC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	6/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43273561	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp2 HG02257.hp1 others(6): Show HG00544.hp2 HG01109.hp2 HG02257.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 NA18990.hp1 NA19064.hp1 NA19068.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0004 a0001c0018 a0002c0002 others(3): Show a0001c0004 a0001c0018 a0002c0002 a0002c0009 a0003c0001 a0007c0022	a0001c0004t0016 a0001c0004t0037 a0001c0018t0008 others(4): Show a0001c0004t0016 a0001c0004t0037 a0001c0018t0008 a0002c0002t0005 a0002c0009t0028 a0003c0001t0001 a0007c0022t0082	a0001c0004t0016g0008 a0001c0004t0037g0249 a0001c0018t0008g0257 others(6): Show a0001c0004t0016g0008 a0001c0004t0037g0249 a0001c0018t0008g0257 a0002c0002t0005g0034 a0002c0009t0028g0004 a0003c0001t0001g0243 a0003c0001t0001g0244 a0003c0001t0001g0245 a0007c0022t0082g0073	9	280	0.0321	13	c.485 others(32): Show c.485-10729_485-10717dupAAAAAAAAAAAAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43319558	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0025 a0002c0009t0025	a0002c0009t0025g0259 a0002c0009t0025g0259	1	280	0.0036	13	c.349 others(28): Show c.349+366_349+378dupTTTTTTTTTTTTT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	3/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18944.hp1 NA19078.hp2 HG02970.hp1 NA18944.hp1 NA19078.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0008 a0001c0002 a0002c0001 a0003c0008	a0001c0002t0010 a0002c0001t0004 a0003c0008t0011 a0001c0002t0010 a0002c0001t0004 a0003c0008t0011	a0001c0002t0010g0068 a0002c0001t0004g0318 a0003c0008t0011g0194 a0001c0002t0010g0068 a0002c0001t0004g0318 a0003c0008t0011g0194	3	358	0.0084	13	c.120 others(30): Show c.1208-967_1208-966insATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0250 a0002c0001t0004g0250	1	358	0.0028	13	c.120 others(30): Show c.1208-967_1208-966insAAAAATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18612.hp2 NA19057.hp1 HG02132.hp1 NA18612.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0003 a0001c0002t0001 a0002c0001t0003	a0001c0002t0001g0045 a0001c0002t0001g0067 a0002c0001t0003g0326 a0001c0002t0001g0045 a0001c0002t0001g0067 a0002c0001t0003g0326	3	358	0.0084	13	c.120 others(30): Show c.1208-967_1208-966insAAAAAAATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9090492	T T	TATTTATT others(6): Show TATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02155.hp2 NA18960.hp2 HG02080.hp2 HG02155.hp2 NA18960.hp2	a0002 a0009 a0002 a0009	a0002c0001 a0009c0016 a0002c0001 a0009c0016	a0002c0001t0004 a0009c0016t0007 a0002c0001t0004 a0009c0016t0007	a0002c0001t0004g0339 a0009c0016t0007g0216 a0009c0016t0007g0217 a0002c0001t0004g0339 a0009c0016t0007g0216 a0009c0016t0007g0217	3	358	0.0084	13	c.134 others(28): Show c.134-664_134-663insTAAATAAATAAAT	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	1/22			chr11	TogoVar
SCX_chr8_144261453_144273481	144268758	A A	AACAACAA others(6): Show AACAACAACGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	13	c.61 others(22): Show c.616_*617insACAACAACGGGAG	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		278		chr8	TogoVar
SCYL1_chr11_65520083_65543704	65540740	G G	GGGGCCTA others(6): Show GGGGCCTACAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	278	0.0036	13	c.21 others(24): Show c.2174_*2175insGGGCCTACAGGGC	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		2037		chr11	TogoVar

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