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	ATATATAT others(10): Show ATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0249 a0002c0003t0008g0249	1	182	0.0055	17	c.48 others(28): Show c.4858_*4859insATATATATTTTTTTTTT	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(10): Show TATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0096 a0001c0001t0008g0096	1	339	0.0029	17	c.48 others(28): Show c.4858_*4859insATATATATATATATATA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859		chr7	TogoVar
SCLY_chr2_238056001_238104413	238098629	A A	ACATGGGA others(10): Show ACATGGGACCGCCCACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0147 a0001c0001t0089g0147	1	390	0.0026	17	c.29 others(26): Show c.290_*291insCCATGGGACCGCCCACA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	291	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCMH1_chr1_41022202_41247306	41089787	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	59	0.0169	17	c.746 others(36): Show c.746-14353_746-14337dupAAAAAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41205838	A A	AGCAATAT others(10): Show AGCAATATTTGCTGTTCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18969.hp1 NA18947.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0269 a0001c0001t0005g0297 a0001c0001t0005g0269 a0001c0001t0005g0297	2	302	0.0066	17	c.-11 others(38): Show c.-117-19605_-117-19589dupAGAACAGCAAATATTGC	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	1/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41244447	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02622.hp2 others(1): Show HG02258.hp2 HG02572.hp2 HG02622.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0302 others(1): Show a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0006g0303	4	163	0.0245	17	c.-25 others(28): Show c.-2507_-2506insAAAAAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding		2142		chr1	TogoVar
SCML4_chr6_107697154_107829313	107751572	A A	ATCTCTTC others(10): Show ATCTCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0173 a0001c0001t0006g0173	1	54	0.0185	17	c.157 others(34): Show c.157-1760_157-1759insAAGAAAGAAAGAAGAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107751649	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0222 a0001c0001t0008g0222	1	247	0.0040	17	c.157 others(34): Show c.157-1837_157-1836insGAAAGAAAGAAAGAAAG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	174	0.0057	17	c.-59 others(34): Show c.-59-5837_-59-5836insATATTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	174	0.0057	17	c.-59 others(34): Show c.-59-5837_-59-5836insATATATATTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01243.hp1 others(14): Show HG00642.hp1 HG01106.hp2 HG01243.hp1 HG01361.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02280.hp1 HG02559.hp2 HG02738.hp2 HG03704.hp1 HG03831.hp1 NA18950.hp1 NA18978.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 others(4): Show a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0017 a0001c0027 a0001c0066	a0001c0004t0001 a0001c0004t0006 a0001c0006t0002 others(5): Show a0001c0004t0001 a0001c0004t0006 a0001c0006t0002 a0001c0007t0001 a0001c0008t0001 a0001c0017t0002 a0001c0027t0001 a0001c0066t0001	a0001c0004t0001g0035 a0001c0004t0001g0060 a0001c0004t0001g0312 others(14): Show a0001c0004t0001g0035 a0001c0004t0001g0060 a0001c0004t0001g0312 a0001c0004t0001g0351 a0001c0004t0001g0355 a0001c0004t0006g0337 a0001c0006t0002g0135 a0001c0006t0002g0152 a0001c0007t0001g0130 a0001c0008t0001g0022 a0001c0008t0001g0115 a0001c0008t0001g0198 a0001c0017t0002g0283 a0001c0017t0002g0285 a0001c0017t0002g0327 a0001c0027t0001g0021 a0001c0066t0001g0189	17	143	0.1189	17	c.228 others(36): Show c.2280+2535_2280+2551dupAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737835	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0015 a0015	a0015c0053 a0015c0053	a0015c0053t0001 a0015c0053t0001	a0015c0053t0001g0299 a0015c0053t0001g0299	1	365	0.0027	17	c.228 others(36): Show c.2280+1679_2280+1680insGAGAGAAAGAAAGAAAG	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166050649	A A	ATATATAT others(10): Show ATATATATATGTGTATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0078 a0002c0002t0005g0078	1	354	0.0028	17	c.964 others(34): Show c.964+1069_964+1070insATATACACATATATATA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166118298	G G	GCTTCTTC others(10): Show GCTTCTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0283 a0001c0001t0025g0283	1	248	0.0040	17	c.-14 others(36): Show c.-142+8625_-142+8626insAAAAAAAAAAGAAGAAG	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291523	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTCCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02300.hp2 HG00621.hp2 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0247 a0002c0003t0001g0289 a0001c0001t0002g0247 a0002c0003t0001g0289	2	337	0.0059	17	c.-51 others(34): Show c.-51-4245_-51-4244insTTTCTTCCTCTCCTTTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165303270	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	39	0.0256	17	c.387 others(34): Show c.387-4571_387-4555dupTTTTTTTTTTTTTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165350464	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03098.hp2 NA18906.hp2 HG01106.hp2 HG03098.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0201 a0001c0001t0002g0300 a0001c0001t0002g0103 a0001c0001t0002g0201 a0001c0001t0002g0300	3	157	0.0191	17	c.292 others(36): Show c.2920-3718_2920-3702dupTTTTTTTTTTTTTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN3A_chr2_165082526_165209050	165153987	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	74	0.0135	17	c.138 others(34): Show c.1380+448_1380+464dupAAAAAAAAAAAAAAAAA	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	11/27			chr2	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18948.hp2 HG03098.hp1 NA18948.hp2	a0002 a0002	a0002c0006 a0002c0070 a0002c0006 a0002c0070	a0002c0006t0003 a0002c0070t0001 a0002c0006t0003 a0002c0070t0001	a0002c0006t0003g0230 a0002c0070t0001g0123 a0002c0006t0003g0230 a0002c0070t0001g0123	2	90	0.0222	17	c.454 others(34): Show c.4542+550_4542+551insAAAAAAAAAAAAAAATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0094	1	20	0.0500	17	c.477 others(34): Show c.4775-128_4775-112dupAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166228247	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02615.hp2 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0013 a0001c0003t0006 a0001c0003t0013	a0001c0003t0006g0274 a0001c0003t0013g0289 a0001c0003t0006g0274 a0001c0003t0013g0289	2	138	0.0145	17	c.420 others(34): Show c.4206+427_4206+443dupAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	22/26			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288456	C C	CCCGTGTC others(10): Show CCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0173 a0001c0018t0005g0173	1	283	0.0035	17	c.166 others(34): Show c.1662+421_1662+422insGTGTCTCTGCCCCGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288764	C C	CCTGCTCC others(10): Show CCTGCTCCGTCCGTGTCT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	129	0.0078	17	c.166 others(34): Show c.1662+738_1662+739insGTGTCTCTGCTCCGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00597.hp2 others(37): Show HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00735.hp2 HG00738.hp2 HG01258.hp2 HG01361.hp1 HG01515.hp2 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp2 HG02572.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03516.hp1 HG03710.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18969.hp2 NA18995.hp1 NA18995.hp2 NA19066.hp1 NA19074.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0003t0002 a0001c0004t0005	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0024 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0005g0007 a0001c0001t0005g0119 a0001c0001t0005g0128 a0001c0001t0006g0174 a0001c0003t0002g0011 a0001c0003t0002g0050 a0001c0003t0002g0102 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0171 a0001c0003t0002g0183 a0001c0003t0002g0194 a0001c0003t0002g0200 a0001c0004t0005g0057	40	94	0.4255	17	c.-22 others(28): Show c.-2261_-2260insAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCP2_chr1_52922276_53056698	52970968	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0277 a0001c0003t0001g0277	1	136	0.0074	17	c.524 others(34): Show c.524-3792_524-3776dupTTTTTTTTTTTTTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52987007	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18954.hp1 NA18999.hp2 HG04204.hp2 NA18954.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0113 a0001c0002t0002g0119 a0001c0002t0002g0108 a0001c0002t0002g0113 a0001c0002t0002g0119	3	207	0.0145	17	c.974 others(34): Show c.974-1022_974-1021insATATATATATATATATA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	10/15			chr1	TogoVar
SCP2_chr1_52922276_53056698	53037975	A A	AGATCCAG others(10): Show AGATCCAGATCCTGTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02717.hp1 others(7): Show HG02280.hp1 HG02559.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0184 others(7): Show a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0002t0003g0139 a0001c0002t0003g0142 a0001c0002t0003g0143	10	278	0.0360	17	c.133 others(34): Show c.1339-942_1339-941insGATCCAGATCCTGTCTC	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15			chr1	TogoVar
SCPEP1_chr17_56973131_57011768	57010854	C C	CCTCTGCC others(10): Show CCTCTGCCTCCCAAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	378	0.0026	17	c.46 others(28): Show c.4619_*4620insCTCTGCCTCCCAAAATG	SCPEP1	ENSG00000121064.13	transcript	ENST00000262288.8	protein_coding		4087		chr17	TogoVar
SCRG1_chr4_173379701_173404116	173399491	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	374	0.0027	17	c.-43 others(26): Show c.-439_-438insCACACACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding		376		chr4	TogoVar
SCTR_chr2_119434843_119529483	119460072	G G	GAAGCAGG others(10): Show GAAGCAGGAGGGCTCAGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	285	0.0035	17	c.790 others(34): Show c.790+1758_790+1774dupGCTGAGCCCTCCTGCTT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	7/12			chr2	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	121	0.0083	17	c.120 others(34): Show c.1208-967_1208-966insAAATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03654.hp1 NA18982.hp2 others(1): Show HG03516.hp1 HG03654.hp1 NA18982.hp2 NA19070.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0002 a0002c0001 a0004c0004 others(1): Show a0001c0002 a0002c0001 a0004c0004 a0006c0015	a0001c0002t0009 a0002c0001t0004 a0004c0004t0004 others(1): Show a0001c0002t0009 a0002c0001t0004 a0004c0004t0004 a0006c0015t0001	a0001c0002t0009g0080 a0002c0001t0004g0329 a0004c0004t0004g0258 others(1): Show a0001c0002t0009g0080 a0002c0001t0004g0329 a0004c0004t0004g0258 a0006c0015t0001g0212	4	124	0.0323	17	c.120 others(34): Show c.1208-967_1208-966insAAAAAAATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18993.hp2 NA19066.hp1 others(1): Show NA18955.hp1 NA18993.hp2 NA19066.hp1 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0002c0001 a0004c0004 a0001c0005 a0002c0001 a0004c0004	a0001c0005t0001 a0002c0001t0004 a0004c0004t0007 a0001c0005t0001 a0002c0001t0004 a0004c0004t0007	a0001c0005t0001g0078 a0002c0001t0004g0251 a0002c0001t0004g0259 others(1): Show a0001c0005t0001g0078 a0002c0001t0004g0251 a0002c0001t0004g0259 a0004c0004t0007g0350	4	124	0.0323	17	c.120 others(34): Show c.1208-967_1208-966insAAAAAAAAATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19058.hp1 HG02129.hp2 NA19058.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0004 a0001c0005 a0004c0004	a0001c0005t0009 a0004c0004t0007 a0001c0005t0009 a0004c0004t0007	a0001c0005t0009g0025 a0004c0004t0007g0318 a0001c0005t0009g0025 a0004c0004t0007g0318	2	122	0.0164	17	c.120 others(34): Show c.1208-967_1208-966insAAAAAAAAAAATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0049 a0001c0005t0009g0049	1	121	0.0083	17	c.120 others(34): Show c.1208-967_1208-966insAAAAAAAAAAAAAAATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054726	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0068 a0001c0006t0006g0068	1	352	0.0028	17	c.120 others(34): Show c.1208-968_1208-967insTATATATATATATATAT	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35226480	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01433.hp2 HG02523.hp2 others(15): Show HG00597.hp1 HG01433.hp2 HG02523.hp2 HG03225.hp1 NA18950.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18977.hp2 NA18982.hp1 NA19002.hp2 NA19005.hp1 NA19011.hp1 NA19057.hp2 NA19076.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0029 others(9): Show a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0126 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0211 a0001c0001t0020g0189	18	53	0.3396	17	c.86- others(32): Show c.86-1094_86-1078dupTTTTTTTTTTTTTTTTT	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCYL2_chr12_100262177_100346715	100298637	C C	CCTCCCTG others(10): Show CCTCCCTGCAACCTCCAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02976.hp2 others(4): Show HG02486.hp2 HG02615.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp2 NA18906.hp1 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0002 a0001c0001t0007 a0006c0014t0002 a0001c0001t0002 a0001c0001t0007 a0006c0014t0002	a0001c0001t0002g0068 a0001c0001t0002g0096 a0001c0001t0007g0060 others(4): Show a0001c0001t0002g0068 a0001c0001t0002g0096 a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0063 a0006c0014t0002g0069	7	218	0.0321	17	c.480 others(32): Show c.480+474_480+490dupCTCCAGCTCCCTGCAAC	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp2 HG03834.hp2 NA18963.hp2 HG03239.hp2 HG03834.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014	a0001c0001t0007g0251 a0001c0001t0011g0257 a0001c0001t0014g0269 a0001c0001t0007g0251 a0001c0001t0011g0257 a0001c0001t0014g0269	3	128	0.0234	17	c.26 others(28): Show c.2651_*2667dupAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2667		chr1	TogoVar
SDAD1_chr4_75944915_75995945	75978982	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03831.hp2 HG03927.hp2 others(1): Show HG00609.hp2 HG03831.hp2 HG03927.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0227 others(1): Show a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0227 a0001c0002t0001g0338	4	37	0.1081	17	c.295 others(34): Show c.295-1243_295-1227dupTTTTTTTTTTTTTTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	3/21			chr4	TogoVar
SDAD1_chr4_75944915_75995945	75994039	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03098.hp1 HG02809.hp2 HG03098.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0004 a0004c0006t0002 a0004c0006t0004	a0004c0006t0002g0276 a0004c0006t0004g0274 a0004c0006t0002g0276 a0004c0006t0004g0274	2	373	0.0054	17	c.-31 others(28): Show c.-3199_-3198insATATATATATATATATA	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3095		chr4	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01070.hp2 others(10): Show HG00639.hp1 HG00642.hp2 HG01070.hp2 HG01169.hp1 HG01261.hp2 HG01517.hp2 HG01943.hp1 HG01993.hp2 HG02071.hp1 HG02129.hp1 HG02602.hp2 HG03017.hp2 NA18943.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0003 a0002c0005t0005 a0003c0004t0017	a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0002g0079 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0002g0079 a0001c0001t0002g0110 a0001c0001t0002g0310 a0001c0001t0004g0285 a0001c0003t0001g0049 a0001c0003t0001g0280 a0001c0003t0001g0289 a0001c0003t0001g0296 a0001c0003t0003g0178 a0002c0005t0005g0210 a0003c0004t0017g0312	13	86	0.1512	17	c.61- others(34): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96576368	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	302	0.0066	17	c.61- others(34): Show c.61-17107_61-17106insTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96576374	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG03139.hp2 others(1): Show HG01891.hp2 HG02818.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0299 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0299 a0001c0001t0001g0300	4	192	0.0208	17	c.61- others(34): Show c.61-17102_61-17101insTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCBP2_chr20_1304909_1334139	1311442	A A	ACAAGAAA others(10): Show ACAAGAAATTAAAAGTCT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	428	0.0023	17	c.733 others(32): Show c.733-568_733-552dupAGACTTTTAATTTCTTG	SDCBP2	ENSG00000125775.15	transcript	ENST00000360779.4	protein_coding	7/8			chr20	TogoVar
SDCCAG8_chr1_243251041_243505091	243353490	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02155.hp2 HG01109.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0059 a0001c0002t0002g0089 a0001c0001t0001g0059 a0001c0002t0002g0089	2	16	0.1250	17	c.147 others(36): Show c.1473+9176_1473+9192dupAAAAAAAAAAAAAAAAA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG01243.hp2 others(6): Show HG01074.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG02132.hp2 HG03927.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0130 a0001c0001t0002g0003 a0001c0001t0002g0004 others(3): Show a0001c0001t0001g0130 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0168	9	11	0.8182	17	c.-19 others(28): Show c.-1969_-1953dupAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF1_chr19_35990188_36001312	35990823	G G	GGAAGGAG others(10): Show GGAAGGAGGAAGGAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00741.hp1 others(35): Show HG00544.hp1 HG00597.hp2 HG00741.hp1 HG01168.hp1 HG01169.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG03017.hp1 HG03490.hp2 HG03688.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18941.hp2 NA18950.hp1 NA18951.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18994.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19059.hp1 NA19060.hp1 NA19079.hp2 NA19081.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	38	239	0.1590	17	c.-44 others(28): Show c.-4452_-4451insGAAGGAGGAAGGAGGAA	SDHAF1	ENSG00000205138.4	transcript	ENST00000378887.4	protein_coding		4364		chr19	TogoVar
SDHAF2_chr11_61425124_61451733	61434591	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	172	0.0058	17	c.37- others(32): Show c.37-3031_37-3015dupTTTTTTTTTTTTTTTTT	SDHAF2	ENSG00000167985.7	transcript	ENST00000301761.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
SDHAF3_chr7_97112698_97186763	97135682	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0240 a0001c0002t0005g0240	1	281	0.0036	17	c.174 others(36): Show c.174+17786_174+17787insATATATATATATATATT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar

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