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
SARDH_chr9_133658560_133743352	133669224	T T	TACCCTCC others(43): Show TACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCT C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0086 a0002c0005t0001g0086	1	135	0.0074	50	c.249 others(69): Show c.2495+1310_2495+1359dupGAGGGGAGAGGGAGGGTGAGGGGAGA GGGAGGGTGAGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0164 a0001c0003t0002g0164	1	208	0.0048	50	c.139 others(67): Show c.1395+441_1395+442insGTATATATATATATATATATATATATAT ATATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SCAMP5_chr15_74990563_75026495	74991034	T T	TTCTCTCT others(43): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0103 a0001c0001t0008g0103	1	366	0.0027	50	c.-46 others(61): Show c.-4688_-4687insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4528		chr15	TogoVar
SCD5_chr4_82624539_82803796	82626113	G G	GGAAAGAA others(43): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAAAGAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0191 a0002c0003t0005g0191	1	184	0.0054	50	c.52 others(61): Show c.5213_*5214insTTTCTTTTTCTTTCTTTCTCTCTCTCTTTCTTTC TTTCTTTCTTTCTTTC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3425		chr4	TogoVar
SCFD2_chr4_52867982_53371061	53083916	A A	ACAAAGGG others(43): Show ACAAAGGGCAAAAGCAGAACCACTGATAAGGATCCAAGAAAGATCACAGG G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0162 a0001c0004t0006g0162	1	162	0.0062	50	c.156 others(71): Show c.1561+61367_1561+61416dupCCCTGTGATCTTTCTTGGATCCTT ATCAGTGGTTCTGCTTTTGCCCTTTG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	83	0.0120	50	c.120 others(69): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 NA18955.hp1 others(2): Show HG00639.hp1 HG00733.hp2 NA18955.hp1 NA18993.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0061 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0001g0377 a0001c0001t0002g0029	5	376	0.0133	50	c.226 others(69): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTGTATAT others(43): Show GTGTATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	372	0.0027	50	c.226 others(69): Show c.226+13382_226+13383insGTATATATATATATATATATATATAT ATATATATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01123.hp1 others(18): Show HG00642.hp2 HG00741.hp2 HG01123.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG02040.hp2 HG02523.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03239.hp1 NA18612.hp2 NA18950.hp1 NA18953.hp2 NA18979.hp1 NA19004.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0173 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0193 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0276 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0035 a0001c0001t0003g0269	21	68	0.3088	50	c.226 others(69): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATGTAT G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01071.hp1 others(6): Show HG00099.hp2 HG01069.hp1 HG01071.hp1 NA18946.hp1 NA18954.hp2 NA18990.hp2 NA18992.hp2 NA19009.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0001g0149 a0001c0001t0001g0241 others(5): Show a0001c0001t0001g0105 a0001c0001t0001g0149 a0001c0001t0001g0241 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0348 a0001c0001t0001g0356 a0001c0001t0002g0005	9	56	0.1607	50	c.226 others(69): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATGTATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19084.hp1 NA18962.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0261 a0001c0001t0001g0262	2	49	0.0408	50	c.226 others(69): Show c.226+13394_226+13395insATATATATATATATATATATATATGT ATATATATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657211	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	409	0.0024	50	c.226 others(69): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATATATGT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196287	G G	GGGGACAT others(43): Show GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00280.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	353	0.0057	50	c.18 others(61): Show c.1837_*1838insGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACCTGGTGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1713		chr11	TogoVar
SCGB1D2_chr11_62237239_62249812	62237592	A A	ATGTATGG others(43): Show ATGTATGGTATGTCGCATGTTGCATTTTGCTTTGATATGGGTGTGATCTG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	434	0.0023	50	c.-47 others(61): Show c.-4716_-4715insTGTATGGTATGTCGCATGTTGCATTTTGCTTTGA TATGGGTGTGATCTGC	SCGB1D2	ENSG00000124935.4	transcript	ENST00000244926.4	protein_coding		4646		chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34668712	G G	GACACTCT others(43): Show GACACTCTGTATCTAGCTACTCTGGTGGGGACTTGGAGAACCTTTGTGTC C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 HG03209.hp1 HG01884.hp1 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0098 a0001c0001t0112 a0001c0001t0017 a0001c0001t0098 a0001c0001t0112	a0001c0001t0017g0263 a0001c0001t0098g0264 a0001c0001t0112g0311 a0001c0001t0017g0263 a0001c0001t0098g0264 a0001c0001t0112g0311	3	354	0.0085	50	c.-20 others(71): Show c.-2032+6868_-2032+6917dupGGACACAAAGGTTCTCCAAGTCCC CACCAGAGTAGCTAGATACAGAGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCML4_chr6_107697154_107829313	107751592	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0059 a0001c0009t0004g0059	1	247	0.0040	50	c.157 others(67): Show c.157-1780_157-1779insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAAAGAAAGAAAGAAAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCN7A_chr2_166398573_166499249	166414150	A A	ATATATTA others(43): Show ATATATTATATATAAATATATATAATATATTATATATATGTAAATATATA T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02818.hp1 others(6): Show HG00741.hp2 HG01243.hp1 HG02818.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp2 HG04228.hp1 NA18612.hp2	a0006 a0024 a0006 a0024	a0006c0006 a0024c0031 a0006c0006 a0024c0031	a0006c0006t0006 a0006c0006t0029 a0024c0031t0004 a0006c0006t0006 a0006c0006t0029 a0024c0031t0004	a0006c0006t0006g0027 a0006c0006t0006g0029 a0006c0006t0006g0030 others(6): Show a0006c0006t0006g0027 a0006c0006t0006g0029 a0006c0006t0006g0030 a0006c0006t0006g0033 a0006c0006t0006g0036 a0006c0006t0006g0039 a0006c0006t0006g0040 a0006c0006t0029g0025 a0024c0031t0004g0031	9	365	0.0247	50	c.341 others(69): Show c.3415-1030_3415-1029insATATATATTTACATATATATAATATA TTATATATATTTATATATAATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414853	T T	TATAATAT others(43): Show TATAATATATAATATATATTTATAGGATAATATATAATATATATTTATAG G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0028 a0004c0024t0028	a0004c0024t0028g0334 a0004c0024t0028g0334	1	321	0.0031	50	c.341 others(69): Show c.3415-1733_3415-1732insCCTATAAATATATATTATATATTATC CTATAAATATATATTATATATTAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23343597	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0228 a0001c0008t0001g0228	1	303	0.0033	50	c.-8- others(65): Show c.-8-4993_-8-4944dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCGTGTCT others(43): Show CCGTGTCTCTGCCCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCG T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	260	0.0038	50	c.166 others(67): Show c.1662+533_1662+534insGTGTCTCTGCCCCGTCCCGTGTCTGCTC CGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCPEP1_chr17_56973131_57011768	56974604	G G	GGATCTCT others(43): Show GGATCTCTCCGCACATCTGCCTCCCCCGGTCGCCTCTCCCCCTCCCCCCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	378	0.0026	50	c.-35 others(61): Show c.-3556_-3555insGATCTCTCCGCACATCTGCCTCCCCCGGTCGCCT CTCCCCCTCCCCCCTT	SCPEP1	ENSG00000121064.13	transcript	ENST00000262288.8	protein_coding		3526		chr17	TogoVar
SCTR_chr2_119434843_119529483	119512435	T T	TTCCCAGG others(43): Show TTCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCATCCTCTGC C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02486.hp2 others(6): Show HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 a0001c0001t0001 a0001c0001t0002 a0001c0004t0004	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 others(6): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0098 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0004t0004g0033	9	288	0.0313	50	c.72+ others(67): Show c.72+11670_72+11719dupGGCAGAGGATGCAGTGAGCTGAGATTGC GCCACTGCACTCCAGCCTGGGA	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43192589	T T	TATATGAG others(43): Show TATATGAGTATATATATATACGTGTATATATATGTGTATATATATATACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0025 a0002c0014t0025	a0002c0014t0025g0129 a0002c0014t0025g0129	1	259	0.0039	50	c.11 others(63): Show c.11407_*11408insGTGTATATATATATACACATATATATACACGT ATATATATATACTCATAT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4690		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280444	C C	CCCGTCCC others(43): Show CCCGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATCCT G	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18747.hp2 NA18944.hp2 others(2): Show HG02071.hp1 NA18747.hp2 NA18944.hp2 NA18962.hp2 NA19083.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0001 a0002c0002 a0003c0001	a0002c0002t0001 a0002c0002t0002 a0003c0001t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0003c0001t0001 a0003c0001t0050	a0002c0002t0001g0120 a0002c0002t0002g0027 a0002c0002t0002g0100 others(2): Show a0002c0002t0001g0120 a0002c0002t0002g0027 a0002c0002t0002g0100 a0003c0001t0001g0101 a0003c0001t0050g0202	5	263	0.0190	50	c.484 others(69): Show c.484+10601_484+10602insCAGGATGGGTGAGGGGAAGGGACAGG GGGATGGGTGAGGGGAAGGGACGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCYGR1_chr2_227382683_227392949	227389878	T T	TTTTTCTT others(43): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02922.hp1 HG02559.hp2 HG02572.hp2 HG02922.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	3	239	0.0126	50	c.-19 others(61): Show c.-1930_-1929insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1930		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65524847	G G	GCCCCGCC others(43): Show GCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01256.hp2 HG01361.hp1 others(15): Show HG00609.hp1 HG01256.hp2 HG01361.hp1 HG01884.hp1 HG01978.hp2 HG02647.hp2 HG02922.hp2 HG02970.hp2 HG03486.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 NA18970.hp2 NA19056.hp2 NA19067.hp2 NA19074.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0050 a0003c0005t0001g0017	18	183	0.0984	50	c.-30 others(59): Show c.-307_-306insCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTC CCTAGCCCCCCCAT	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		235		chr11	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(43): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG01346.hp2 HG01433.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0003 a0001c0003t0003 a0002c0002t0003	a0001c0003t0003g0202 a0002c0002t0003g0220 a0001c0003t0003g0202 a0002c0002t0003g0220	2	75	0.0267	50	c.61- others(67): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0065 a0001c0072t0065	a0001c0072t0065g0027 a0001c0072t0065g0027	1	88	0.0114	50	c.301 others(69): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTCTGTGTGTGTGT GTGTGTATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4146275	C C	CCTGCTCT others(43): Show CCTGCTCTCTCAGACATGTGAGCATTGCATGACACACTTTCAGCCTCACA G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0007 a0007	a0007c0044 a0007c0044	a0007c0044t0001 a0007c0044t0001	a0007c0044t0001g0020 a0007c0044t0001g0020	1	112	0.0089	50	c.442 others(67): Show c.4423+389_4423+438dupGACACACTTTCAGCCTCACAGCTGCTCT CTCAGACATGTGAGCATTGCAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	29/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0009 a0001c0072t0009	a0001c0072t0009g0075 a0001c0072t0009g0075	1	52	0.0192	50	c.559 others(69): Show c.5594-2538_5594-2537insAATATATATATATATATATATATATA TATATATATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454724	A A	AATATATA others(43): Show AATATATAATATATAATAATATTATTATATATAATATATAATAATATTAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG02572.hp2 HG02723.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0059 a0006c0006t0001g0059	2	449	0.0045	50	c.52 others(61): Show c.5296_*5297insAATAATATTATTATATATTATATATAATAATATT ATTATATATTATATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4504		chr22	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(43): Show TATATATATATACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0097 a0001c0002t0004g0097	1	12	0.0833	50	c.116 others(69): Show c.1165+1199_1165+1200insTATATATATACACACACACACACACA CACACACACACACACACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82890607	T T	TAATCCTA others(43): Show TAATCCTAGTTAAATGACAGTAGACGTCAGTTCAAACCTATGAACCTTTA A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	326	0.0031	50	c.-5+ others(63): Show c.-5+431_-5+480dupTTAAAGGTTCATAGGTTTGAACTGACGTCTAC TGTCATTTAACTAGGATT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(43): Show CATATATATATTCCATATATATATATATTCCATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	39	0.0256	50	c.115 others(67): Show c.115-2706_115-2705insATATATATATATATATATATGGAATATA TATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATTTA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA18985.hp2 HG06807.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0012 a0001c0001t0003 a0001c0008t0012	a0001c0001t0003g0210 a0001c0008t0012g0143 a0001c0001t0003g0210 a0001c0008t0012g0143	2	244	0.0082	50	c.19 others(61): Show c.1909_*1910insTTAAATATATATATATATATATATATATATATAT ATATATATATATATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar
SEMG2_chr20_45216373_45229458	45216746	C C	CTTTTTTT others(43): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0003	1	360	0.0028	50	c.-46 others(61): Show c.-4644_-4643insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		4626		chr20	TogoVar
SEMG2_chr20_45216373_45229458	45225548	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG00741.hp2 others(8): Show HG00597.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG02523.hp2 HG02723.hp2 HG04184.hp2 NA19057.hp1 NA19074.hp2 NA20129.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	11	340	0.0324	50	c.13 others(61): Show c.1302_*1303insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		1091		chr20	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0274 a0001c0001t0014g0274	1	67	0.0149	50	c.188 others(69): Show c.1885-8827_1885-8826insAAAAAAAAAAAATATATATATATATA TATATATATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77380262	C C	CCCCCCCC others(43): Show CCCCCCCCGCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCCCATGCCC G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0054 a0004c0008t0003g0054	1	94	0.0106	50	c.77- others(67): Show c.77-21790_77-21789insGCATGCCCGCCTCCCCCTCCATGCCCGC TCCCCCCCATGCCCGCCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77380262	C C	CCCCCCCC others(43): Show CCCCCCCCGCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCCCATGCCC G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0146 a0004c0008t0004g0146	1	101	0.0099	50	c.23- others(67): Show c.23-21790_23-21789insGCATGCCCGCCTCCCCCTCCATGCCCGC TCCCCCCCATGCCCGCCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169360	A A	ATATATAT others(43): Show ATATATATAATATGTATATTATATATTATATATAATATGTATATTATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA19084.hp1 NA19084.hp2 HG03834.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0095 a0001c0001t0001g0123 a0001c0001t0001g0127	3	363	0.0083	50	c.-12 others(61): Show c.-1223_-1222insATATATAATATACATATTATATATAATATATAAT ATACATATTATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1099		chr6	TogoVar
SERGEF_chr11_17783048_18018047	17896853	T T	TAAGGGAA others(43): Show TAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp2 HG02451.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0080 a0001c0001t0001g0081	2	103	0.0194	50	c.101 others(71): Show c.1012-18659_1012-18610dupCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	377	0.0027	50	c.-17 others(69): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATATATATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SESN3_chr11_95160513_95236202	95167475	C C	CCCATATA others(43): Show CCCATATATATATATATATATATATATATATATATATATATATATATATA T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0069 a0001c0002t0045g0069	1	383	0.0026	50	c.57 others(61): Show c.5779_*5780insATATATATATATATATATATATATATATATATAT ATATATATATATATGG	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	10/10	5779		chr11	TogoVar
SETD6_chr16_58510517_58528842	58516148	G G	GCGGGGCG others(43): Show GCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGT T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0032 a0001c0003t0012g0032	2	292	0.0068	50	c.335 others(63): Show c.335-50_335-49insGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGC GGGGCGGGGCGGTTCGGG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEZ6L_chr22_26164462_26388596	26327363	C C	CCACACCA others(43): Show CCACACCACATGACACTACACACACCATACACACACCCCACACACACACT A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp1 HG01256.hp2 others(22): Show HG01074.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02129.hp2 HG02273.hp2 HG02486.hp2 HG03041.hp1 NA18942.hp1 NA18946.hp1 NA18962.hp2 NA18973.hp2 NA18989.hp1 NA19060.hp1 NA19081.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0010 a0001c0035 a0001c0036 a0003c0004 a0010c0024	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0007t0003 a0001c0008t0002 a0001c0008t0005 a0001c0010t0002 a0001c0035t0003 a0001c0036t0015 a0003c0004t0031 a0010c0024t0006	a0001c0001t0002g0057 a0001c0001t0002g0141 a0001c0001t0002g0144 others(21): Show a0001c0001t0002g0057 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0003g0136 a0001c0001t0003g0215 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0132 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0216 a0001c0001t0005g0224 a0001c0003t0001g0233 a0001c0003t0002g0001 a0001c0003t0002g0041 a0001c0007t0003g0230 a0001c0008t0002g0005 a0001c0008t0005g0082 a0001c0010t0002g0238 a0001c0010t0002g0239 a0001c0035t0003g0047 a0001c0036t0015g0225 a0003c0004t0031g0023 a0010c0024t0006g0062	25	238	0.1050	50	c.201 others(71): Show c.2016-13037_2016-13036insCCACACACACACTACACACCACAT GACACTACACACACCATACACACACC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	12	0.0833	50	c.495 others(65): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(43): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	118	0.0085	50	c.124 others(67): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7378156	A A	ATGGATGG others(43): Show ATGGATGGGTGGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGT G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	142	0.0070	50	c.100 others(67): Show c.100+3593_100+3642dupCACATACACCCACACACACCCACACTCA CACCCATCCATCCACCCATCCA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7378215	T T	TGATGGAT others(43): Show TGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02818.hp2 HG03041.hp2 others(3): Show HG01255.hp2 HG02818.hp2 HG03041.hp2 HG03209.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0003t0006 a0001c0003t0027	a0001c0001t0002g0039 a0001c0002t0001g0036 a0001c0002t0002g0037 others(3): Show a0001c0001t0002g0039 a0001c0002t0001g0036 a0001c0002t0002g0037 a0001c0002t0012g0108 a0001c0003t0006g0035 a0001c0003t0027g0034	6	31	0.1935	50	c.100 others(67): Show c.100+3583_100+3584insCACCCATCCACACATACACCCACACACA CCCACACTCACACCCATCCATC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20			chr10	TogoVar

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