Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SNTG2_chr2_945849_1372613	1107626	GAGTGGAC others(45): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AAT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03490.hp2 HG04184.hp2 others(1): Show HG02258.hp1 HG03490.hp2 HG04184.hp2 NA18943.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0004 a0004c0014 a0001c0002 a0004c0004 a0004c0014	a0001c0002t0001 a0004c0004t0001 a0004c0014t0001 a0001c0002t0001 a0004c0004t0001 a0004c0014t0001	a0001c0002t0001g0031 a0001c0002t0001g0145 a0004c0004t0001g0087 others(1): Show a0001c0002t0001g0031 a0001c0002t0001g0145 a0004c0004t0001g0087 a0004c0014t0001g0054	4	181	0.0221	-52	c.325 others(69): Show c.325+9259_325+9310delGCTTGGTAATAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107834	GAGTGGAC others(45): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AAT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	115	0.0087	-52	c.325 others(69): Show c.325+9467_325+9518delGCTTGGTAATAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107938	GAGTGGAC others(45): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02572.hp2 HG03239.hp2 others(1): Show HG01257.hp1 HG02572.hp2 HG03239.hp2 HG03927.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0003 a0004c0004 others(1): Show a0001c0001 a0002c0003 a0004c0004 a0010c0029	a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 a0010c0029t0001	a0001c0001t0001g0179 a0002c0003t0001g0185 a0004c0004t0001g0177 others(1): Show a0001c0001t0001g0179 a0002c0003t0001g0185 a0004c0004t0001g0177 a0010c0029t0001g0152	4	132	0.0303	-52	c.325 others(69): Show c.325+9580_325+9631delTAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTCCTTGGTAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108094	TAGTGGAC others(45): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	125	0.0080	-52	c.325 others(69): Show c.325+9727_325+9778delCCTTGGTAAGAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108406	TAGTGGAC others(45): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0001 a0018c0035t0001	a0018c0035t0001g0071 a0018c0035t0001g0071	1	182	0.0055	-52	c.325 others(71): Show c.325+10039_325+10090delCCTTGGTAAGAGTGGACACGTGCTGT CACTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108770	GAGTGGAC others(45): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02615.hp1 others(1): Show HG01109.hp2 HG02486.hp1 HG02615.hp1 NA18522.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0005 a0003c0007 a0005c0006 a0002c0005 a0003c0007 a0005c0006	a0002c0005t0001 a0003c0007t0001 a0005c0006t0001 a0002c0005t0001 a0003c0007t0001 a0005c0006t0001	a0002c0005t0001g0100 a0003c0007t0001g0007 a0003c0007t0001g0104 others(1): Show a0002c0005t0001g0100 a0003c0007t0001g0007 a0003c0007t0001g0104 a0005c0006t0001g0079	4	188	0.0213	-52	c.325 others(71): Show c.325+10403_325+10454delGCTTGGTAATAGTGGACACGTGCTGT CACTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108936	GTGCTGTC others(45): Show GTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGAC ACA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0142 a0004c0004t0001g0142	1	188	0.0053	-52	c.325 others(71): Show c.325+10559_325+10610delCCTTGGTAAGAGTGGACACATGCTGT CACTCGGGTGCAGGGTATGGAGAGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX25_chr4_185204598_185368966	185210390	GCGGGCCC others(45): Show GCGGGCCCGGCCGTGGACGCGAGCGTTCCCCGGCGCCCGCGCGCGGCGGG CTC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03834.hp1 HG01168.hp2 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0273 a0001c0003t0001g0274	2	274	0.0073	-52	c.429 others(67): Show c.429+141_429+192delCCGGCCGTGGACGCGAGCGTTCCCCGGCGC CCGCGCGCGGCGGGCTCCGGGC	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX8_chr7_2246770_2319441	2268874	CGGCCAGC others(45): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTG CCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04115.hp1 HG03831.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0129 a0001c0001t0011g0136 a0001c0001t0011g0129 a0001c0001t0011g0136	2	368	0.0054	-52	c.621 others(67): Show c.621+633_621+684delAGGCAGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar
SOCS7_chr17_38346844_38410593	38408350	AGACTCCG others(45): Show AGACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAAGCTGGGGCTGGGCGC GGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02109.hp2 HG02145.hp2 others(16): Show HG01993.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 NA18906.hp2 NA19030.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 others(8): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0031 a0001c0001t0053 a0001c0004t0030 a0001c0004t0032 a0002c0006t0007 a0002c0006t0029	a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0043 others(16): Show a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0043 a0001c0001t0013g0013 a0001c0001t0013g0014 a0001c0001t0013g0016 a0001c0001t0014g0121 a0001c0001t0014g0122 a0001c0001t0014g0126 a0001c0001t0017g0170 a0001c0001t0017g0171 a0001c0001t0019g0187 a0001c0001t0019g0191 a0001c0001t0031g0192 a0001c0001t0053g0040 a0001c0004t0030g0024 a0001c0004t0032g0023 a0002c0006t0007g0041 a0002c0006t0029g0042	19	288	0.0660	-52	c.88 others(63): Show c.8869_*8920delGACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAA GCTGGGGCTGGGCGCGGT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding		2758		chr17	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(45): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 NA18906.hp2 NA18973.hp2 HG02145.hp2 NA18906.hp2 NA18973.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0021 a0002c0003t0001g0210 a0001c0001t0001g0021 a0002c0003t0001g0210	3	61	0.0492	-52	c.11 others(63): Show c.1181_*1232delACACACACACACACACACACACACACACACACAC ACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORBS1_chr10_95306773_95566371	95358670	ACACACAC others(45): Show ACACACACACACACAGACACGCACATGCACAGACATGCGCGCGCGCGCGC GCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0219 a0001c0002t0037g0219	1	298	0.0034	-52	c.195 others(69): Show c.1956-919_1956-868delCGCGCGCGCGCGCGCGCATGTCTGTGCA TGTGCGTGTCTGTGTGTGTGTGTG	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SOX6_chr11_15961449_16361546	16132299	GAAGGAAG others(45): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGAAAGAA AGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	211	0.0047	-52	c.778 others(71): Show c.778-20428_778-20377delTCTTTCTTTCTTTTTTCTTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132390	GAAAGAAA others(45): Show GAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0054 a0001c0001t0016g0054	1	199	0.0050	-52	c.778 others(71): Show c.778-20519_778-20468delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTTCTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132394	GAAAGAAA others(45): Show GAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	204	0.0049	-52	c.778 others(71): Show c.778-20523_778-20472delTTTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SPATA13_chr13_24155720_24312069	24278922	TTCCCTCT others(45): Show TTCCCTCTTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03540.hp1 HG02818.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0027 a0001c0002t0051g0338 a0001c0002t0051g0027 a0001c0002t0051g0338	2	353	0.0057	-52	c.216 others(71): Show c.2165-5206_2165-5155delTTTCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCTTCCCTCCCTC	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA33_chr16_89652836_89675458	89664509	TGGGCCCG others(45): Show TGGGCCCGACCTGATCAGGGAAGCCAGACAGTAAAAGTGTCAGAGGCTCT TTA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0126 a0001c0001t0008g0126	1	420	0.0024	-52	c.212 others(69): Show c.212-4625_212-4574delCTTTAGGGCCCGACCTGATCAGGGAAGC CAGACAGTAAAAGTGTCAGAGGCT	SPATA33	ENSG00000167523.15	transcript	ENST00000579310.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPATA5_chr4_122918078_123324433	123323070	CACATATA others(45): Show CACATATATATACACACATATATATATACATATATATACACACATATATA TAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG01192.hp2 others(25): Show HG01106.hp2 HG01123.hp1 HG01192.hp2 HG02165.hp1 HG02280.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG04228.hp2 NA18906.hp1 NA18940.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18982.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(15): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0051 a0001c0001t0074 a0001c0004t0030 a0001c0004t0031 a0002c0002t0016 a0002c0002t0032 a0002c0002t0052 a0002c0002t0070 a0003c0003t0021 a0003c0003t0054	a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0008g0017 others(25): Show a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0008g0017 a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0095 a0001c0001t0012g0241 a0001c0001t0012g0244 a0001c0001t0012g0246 a0001c0001t0014g0122 a0001c0001t0014g0125 a0001c0001t0027g0024 a0001c0001t0028g0126 a0001c0001t0033g0262 a0001c0001t0051g0245 a0001c0001t0074g0260 a0001c0004t0030g0147 a0001c0004t0031g0146 a0002c0002t0016g0158 a0002c0002t0016g0165 a0002c0002t0032g0159 a0002c0002t0052g0155 a0002c0002t0070g0164 a0003c0003t0021g0009 a0003c0003t0021g0013 a0003c0003t0054g0012	28	247	0.1134	-52	c.90 others(63): Show c.9007_*9058delACATATATATACACACATATATATATACATATAT ATACACACATATATATAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding		3638		chr4	TogoVar
SPEF2_chr5_35612863_35819611	35751024	CGTATATA others(45): Show CGTATATATATACACATATGTATATATATATACGTATATATATGTATATA TAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0221 a0004c0005t0001g0221	1	261	0.0038	-52	c.333 others(71): Show c.3331-2599_3331-2548delGTATATATATACACATATGTATATAT ATATACGTATATATATGTATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36			chr5	TogoVar
SPON1_chr11_13957723_14273133	14160431	TTATATAT others(45): Show TTATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	180	0.0056	-52	c.825 others(71): Show c.825+24878_825+24929delTATATATATTTATATATATATATTTA TATATATATTTATATATATATATTTA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160446	TATATATA others(45): Show TATATATATTTATATATATATATTTATATATATATTTATATATATATATT TAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00642.hp2 others(25): Show HG00323.hp2 HG00408.hp2 HG00642.hp2 HG01109.hp1 HG01192.hp1 HG01496.hp2 HG02071.hp2 HG02135.hp2 HG02698.hp2 HG02886.hp2 HG03579.hp1 NA18612.hp1 NA18943.hp2 NA18954.hp2 NA18966.hp1 NA18982.hp2 NA18986.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0013 a0001c0002t0018 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0017 a0001c0001t0002g0131 a0001c0001t0003g0187 others(25): Show a0001c0001t0001g0017 a0001c0001t0002g0131 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0004g0183 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0118 a0001c0002t0001g0149 a0001c0002t0001g0155 a0001c0002t0001g0174 a0001c0002t0003g0201 a0001c0002t0011g0148 a0001c0002t0013g0151 a0001c0002t0018g0185 a0001c0003t0001g0072 a0001c0003t0001g0085 a0001c0003t0002g0078 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0096 a0001c0004t0001g0102 a0001c0004t0001g0104 a0002c0005t0001g0046 a0002c0005t0001g0130	28	222	0.1261	-52	c.825 others(71): Show c.825+24887_825+24938delTTATATATATATATTTATATATATAT TTATATATATATATTTACATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SSX4B_chrX_48397082_48416960	48410952	CTGAGAAG others(45): Show CTGAGAAGTGGGGATGATAGTCTGTCCTGGTTGATGCCATGGCTAACTGA CAG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	180	0.0056	-52	c.70- others(64): Show c.70-140_70-89delCTGTCAGTTAGCCATGGCATCAACCAGGACAGA CTATCATCCCCACTTCTCA	SSX4B	ENSG00000269791.6	transcript	ENST00000595235.6	protein_coding	2/7			chrX	TogoVar
ST18_chr8_52105838_52414756	52263838	CTGGATTC others(45): Show CTGGATTCAAGCTATTCTCCTGCCGATCTTCACTCACTGCAACCTCTGCC TCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(18): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0007 a0001c0001 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0002c0003t0003 a0005c0007t0007	a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0039 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0003g0021 a0001c0001t0003g0072 a0001c0001t0007g0008 a0001c0001t0007g0084 a0001c0001t0009g0043 a0001c0001t0010g0041 a0001c0001t0010g0067 a0001c0001t0011g0040 a0001c0001t0014g0079 a0001c0001t0015g0068 a0001c0001t0016g0083 a0001c0001t0017g0100 a0001c0001t0018g0037 a0001c0001t0019g0057 a0002c0003t0003g0022 a0002c0003t0003g0038 a0002c0003t0003g0102 a0005c0007t0007g0098	21	102	0.2059	-52	c.-46 others(73): Show c.-464-33813_-464-33762delAGAGGCAGAGGTTGCAGTGAGTGA AGATCGGCAGGAGAATAGCTTGAATCCA	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133551512	CAGAAAGA others(45): Show CAGAAAGAAAGAAAGAGAAAGAAAGAGAAGGAAAGAAAGAAAGAAAGAAA GAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0055 a0001c0004t0003g0055	1	323	0.0031	-52	c.-58 others(71): Show c.-581-5638_-581-5587delTTCTTTCTTTCTTTCTTTCTTTCCTT CTCTTTCTTTCTCTTTCTTTCTTTCT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	1/9			chr8	TogoVar
ST3GAL3_chr1_43702536_43936159	43917476	ATATATAA others(45): Show ATATATAATATATAATATATATAATATATTATATAATATAATATATATTA TAT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	272	0.0037	-52	c.745 others(69): Show c.745-2915_745-2864delAATATATATAATATATTATATAATATAA TATATATTATATTATATAATATAT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277538	ATATATAT others(45): Show ATATATATATATATATATATATATATATATACACACACACATATGTTTAT GTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG03540.hp1 others(2): Show HG02965.hp2 HG03139.hp1 HG03540.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0003t0005 a0002c0004t0001	a0001c0001t0002g0058 a0001c0001t0003g0063 a0001c0001t0018g0075 others(2): Show a0001c0001t0002g0058 a0001c0001t0003g0063 a0001c0001t0018g0075 a0001c0003t0005g0037 a0002c0004t0001g0036	5	102	0.0490	-52	c.19- others(69): Show c.19-36244_19-36193delTATATATACACACACACATATGTTTATG TGTATATATATATATATATATATA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277561	TATATATA others(45): Show TATATATACACACACACATATGTTTATGTGTATATATATATATATATATA TAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00735.hp1 HG00735.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0002c0002t0001 a0001c0001t0016 a0002c0002t0001	a0001c0001t0016g0018 a0002c0002t0001g0098 a0001c0001t0016g0018 a0002c0002t0001g0098	2	97	0.0206	-52	c.19- others(69): Show c.19-36242_19-36191delTATATACACACACACATATGTTTATGTG TATATATATATATATATATATACA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277563	TATATACA others(45): Show TATATACACACACACATATGTTTATGTGTATATATATATATATATATATA CAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG00741.hp1 HG01109.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0095 a0002c0002t0001g0089 a0001c0001t0002g0095 a0002c0002t0001g0089	2	102	0.0196	-52	c.19- others(69): Show c.19-36240_19-36189delTATACACACACACATATGTTTATGTGTA TATATATATATATATATATACACA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STARD13_chr13_33098137_33290755	33177913	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGA AGG	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0052 a0001c0004t0002g0052	1	299	0.0033	-52	c.170 others(71): Show c.170-10343_170-10292delCCTTCCTTCCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STARD13_chr13_33098137_33290755	33177929	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGA AGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00738.hp2 others(27): Show HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01934.hp2 HG01952.hp1 HG02055.hp2 HG02486.hp2 HG02738.hp1 HG03491.hp2 HG03710.hp1 HG03831.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18961.hp1 NA18967.hp2 NA18980.hp1 NA18991.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 others(2): Show a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0023	a0001c0001t0002g0055 a0001c0001t0002g0070 a0002c0003t0001g0272 others(27): Show a0001c0001t0002g0055 a0001c0001t0002g0070 a0002c0003t0001g0272 a0002c0003t0002g0010 a0002c0003t0002g0135 a0002c0003t0003g0016 a0002c0003t0003g0050 a0002c0003t0003g0056 a0002c0003t0003g0069 a0002c0003t0003g0087 a0002c0003t0003g0096 a0002c0003t0003g0099 a0002c0003t0003g0100 a0002c0003t0003g0131 a0002c0003t0003g0133 a0002c0003t0003g0145 a0002c0003t0003g0161 a0002c0003t0003g0189 a0002c0003t0003g0194 a0002c0003t0003g0205 a0002c0003t0003g0214 a0002c0003t0003g0227 a0002c0003t0003g0252 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0285 a0002c0003t0023g0224	30	286	0.1049	-52	c.170 others(71): Show c.170-10359_170-10308delCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCCTTCCTTCCTTCCTTCCTTCCT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STAT5B_chr17_42194177_42281391	42199227	TGTAACTC others(45): Show TGTAACTCTGCATAGGATATATTTCTTTTTTTTGAGGCAGAGTCAAATTT GAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0105 a0001c0005t0024g0105	1	258	0.0039	-52	c.24 others(63): Show c.2459_*2510delCTCAAATTTGACTCTGCCTCAAAAAAAAGAAATA TATCCTATGCAGAGTTAC	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	19/19	2459		chr17	TogoVar
STK10_chr5_172037079_172193224	172189813	GAAAGGAA others(45): Show GAAAGGAAAGAGAGAAAGAGAGAAAGAAAGAAAGAGAAAGGGAAAGGAAA GGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02280.hp2 others(11): Show HG00639.hp1 HG01884.hp1 HG02280.hp2 HG02647.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0011 a0001c0004t0001 a0001c0004t0006 a0001c0004t0013 a0001c0007t0001 a0001c0008t0009 a0001c0008t0029 a0001c0011t0001	a0001c0001t0001g0006 a0001c0001t0003g0026 a0001c0001t0034g0007 others(11): Show a0001c0001t0001g0006 a0001c0001t0003g0026 a0001c0001t0034g0007 a0001c0002t0001g0019 a0001c0002t0002g0008 a0001c0002t0008g0016 a0001c0003t0011g0024 a0001c0004t0001g0015 a0001c0004t0006g0025 a0001c0004t0013g0014 a0001c0007t0001g0018 a0001c0008t0009g0012 a0001c0008t0029g0013 a0001c0011t0001g0017	14	161	0.0870	-52	c.-18 others(63): Show c.-1823_-1772delTCCTTTCCTTTCCCTTTCTCTTTCTTTCTTTCTC TCTTTCTCTCTTTCCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding		1590		chr5	TogoVar
STK26_chrX_132018302_132080943	132044708	GATCTATA others(45): Show GATCTATATATATATTTATATATATATAGAGAGATCTATATATATATTTA TAT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0206	1	198	0.0051	-52	c.43- others(67): Show c.43-9920_43-9869delCTATATATATATTTATATATATATAGAGAG ATCTATATATATATTTATATAT	STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
STK38L_chr12_27239286_27330959	27240946	TTATATAT others(45): Show TTATATATATTACATATATGACTATGTATAGTTATATATATTACATATAT GAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01361.hp2 HG01433.hp2 others(35): Show HG00423.hp2 HG01361.hp2 HG01433.hp2 HG02004.hp2 HG02071.hp1 HG02083.hp1 HG02300.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18942.hp1 NA18954.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp2 NA19001.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0003t0002	a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0132 others(33): Show a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0107 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0218 a0001c0001t0002g0233 a0001c0001t0003g0065 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0004g0061 a0001c0001t0004g0181 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0120 a0001c0001t0007g0182 a0001c0001t0007g0221 a0001c0001t0007g0224 a0001c0003t0002g0013	38	335	0.1134	-52	c.-33 others(63): Show c.-3397_-3346delTATATATATTACATATATGACTATGTATAGTTAT ATATATTACATATATGAC	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3339		chr12	TogoVar
STK38L_chr12_27239286_27330959	27240977	TTATATAT others(45): Show TTATATATATTACATATATGACTGTATAGTTATATATATTACATATATGA CTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02040.hp1 HG03492.hp1 others(11): Show HG01891.hp2 HG02040.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp2 HG03831.hp1 NA18612.hp1 NA18955.hp2 NA18963.hp1 NA18970.hp2 NA18975.hp2 NA18990.hp1 NA19002.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0188 others(10): Show a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0227 a0001c0001t0002g0232 a0001c0001t0006g0128 a0001c0001t0007g0019	14	321	0.0436	-52	c.-33 others(63): Show c.-3366_-3315delTATATATATTACATATATGACTGTATAGTTATAT ATATTACATATATGACTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3308		chr12	TogoVar
STK3_chr8_98449633_98830688	98543974	TATAAGAG others(45): Show TATAAGAGAGTGGCAGAAGCAATGAAATATAGCCTCTAAGAGGAGTTTAG AAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG02922.hp1 others(1): Show HG02145.hp1 HG02895.hp2 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 others(1): Show a0001c0001t0001g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168	4	168	0.0238	-52	c.114 others(71): Show c.1141+3943_1141+3994delGTTCTAAACTCCTCTTAGAGGCTATA TTTCATTGCTTCTGCCACTCTCTTAT	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	9/10			chr8	TogoVar
STX2_chr12_130784600_130844250	130843414	ATAATTTA others(45): Show ATAATTTATATATATATATTATATATTATATATACATTATATATATAATA TAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02129.hp2 HG02135.hp1 others(8): Show HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02559.hp2 NA18941.hp1 NA18951.hp1 NA18951.hp2 NA18986.hp2 NA19074.hp1 NA19084.hp1 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0013 a0001c0001t0001 a0004c0006t0013	a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0144 others(8): Show a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0247 a0004c0006t0013g0111	11	378	0.0291	-52	c.-43 others(63): Show c.-4367_-4316delATATATTATATATATAATGTATATATAATATATA ATATATATATATAAATTA	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		4165		chr12	TogoVar
STXBP3_chr1_108741674_108814523	108771986	CTGTATCA others(45): Show CTGTATCATATATAAATACATATGATATCTGTATCATATATAAATACATA TGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG06807.hp1 HG02280.hp1 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0030 a0001c0001t0002g0007 a0001c0001t0002g0030	3	65	0.0462	-52	c.439 others(67): Show c.439-677_439-626delGTATCATATATAAATACATATGATATCTGT ATCATATATAAATACATATGAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUPT3H_chr6_44821726_45382934	45288561	ATATGTAT others(45): Show ATATGTATATATATATATATATGTATATATATATATGTGTATATATATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG01928.hp1 others(3): Show HG00609.hp1 HG00642.hp1 HG01928.hp1 HG01978.hp1 NA19000.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0115 others(3): Show a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0115 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0154	6	252	0.0238	-52	c.101 others(71): Show c.101+76588_101+76639delCATATATATATATACACATATATATA TATACATATATATATATATATACATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SVEP1_chr9_110360248_110584741	110504663	CTGATACC others(45): Show CTGATACCAGCTATACACAATTTCTAATTCCTTCTGCCCAGCATTTGGGT CCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp1 HG03209.hp2 others(1): Show HG01884.hp1 HG03098.hp1 HG03209.hp2 NA21309.hp2	a0001 a0020 a0053 a0001 a0020 a0053	a0001c0053 a0020c0113 a0053c0115 others(1): Show a0001c0053 a0020c0113 a0053c0115 a0053c0161	a0001c0053t0001 a0020c0113t0004 a0053c0115t0009 others(1): Show a0001c0053t0001 a0020c0113t0004 a0053c0115t0009 a0053c0161t0011	a0001c0053t0001g0091 a0020c0113t0004g0106 a0053c0115t0009g0069 others(1): Show a0001c0053t0001g0091 a0020c0113t0004g0106 a0053c0115t0009g0069 a0053c0161t0011g0003	4	360	0.0111	-52	c.130 others(71): Show c.1304-1498_1304-1447delAGGACCCAAATGCTGGGCAGAAGGAA TTAGAAATTGTGTATAGCTGGTATCA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	5/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110541750	CATCTATA others(45): Show CATCTATATACATAGATATCTATATATATCTATATACATAGATATCTATA TAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(98): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02486.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp1	a0001 a0002 a0003 others(37): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0019 a0020 a0033 a0034 a0035 a0036 a0040 a0041 a0044 a0048 a0053 a0055 a0057 a0059 a0061 a0067 a0068 a0073 a0074 a0085 a0087 a0089 a0103 a0104 a0109 a0110	a0001c0002 a0001c0053 a0002c0001 others(41): Show a0001c0002 a0001c0053 a0002c0001 a0003c0004 a0003c0032 a0003c0126 a0004c0005 a0005c0007 a0006c0003 a0008c0013 a0010c0008 a0011c0009 a0011c0157 a0012c0025 a0013c0014 a0014c0070 a0015c0011 a0016c0012 a0019c0015 a0020c0124 a0033c0031 a0034c0156 a0035c0027 a0036c0030 a0040c0078 a0041c0040 a0044c0052 a0048c0050 a0053c0115 a0055c0042 a0057c0051 a0059c0121 a0061c0077 a0067c0131 a0068c0132 a0073c0119 a0074c0127 a0085c0109 a0087c0129 a0089c0145 a0103c0112 a0104c0117 a0109c0125 a0110c0076	a0001c0002t0002 a0001c0053t0001 a0002c0001t0001 others(50): Show a0001c0002t0002 a0001c0053t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0003c0004t0001 a0003c0032t0001 a0003c0126t0001 a0004c0005t0002 a0005c0007t0004 a0006c0003t0001 a0006c0003t0002 a0006c0003t0003 a0008c0013t0001 a0008c0013t0003 a0010c0008t0001 a0010c0008t0002 a0011c0009t0001 a0011c0157t0006 a0012c0025t0002 a0013c0014t0004 a0014c0070t0002 a0015c0011t0001 a0015c0011t0002 a0016c0012t0002 a0016c0012t0003 a0019c0015t0002 a0019c0015t0003 a0020c0124t0002 a0033c0031t0004 a0034c0156t0007 a0035c0027t0003 a0036c0030t0002 a0040c0078t0002 a0041c0040t0004 a0044c0052t0002 a0048c0050t0004 a0053c0115t0009 a0055c0042t0001 a0057c0051t0001 a0059c0121t0003 a0061c0077t0002 a0067c0131t0003 a0068c0132t0003 a0073c0119t0002 a0074c0127t0001 a0085c0109t0001 a0087c0129t0001 a0089c0145t0001 a0103c0112t0001 a0104c0117t0002 a0109c0125t0001 a0110c0076t0001	a0001c0002t0002g0028 a0001c0002t0002g0273 a0001c0002t0002g0335 others(98): Show a0001c0002t0002g0028 a0001c0002t0002g0273 a0001c0002t0002g0335 a0001c0053t0001g0091 a0001c0053t0001g0123 a0002c0001t0001g0134 a0002c0001t0002g0167 a0002c0001t0002g0306 a0002c0001t0002g0332 a0002c0001t0004g0023 a0002c0001t0004g0024 a0002c0001t0004g0302 a0003c0004t0001g0025 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0034 a0003c0004t0001g0062 a0003c0004t0001g0144 a0003c0004t0001g0180 a0003c0004t0001g0272 a0003c0004t0001g0309 a0003c0004t0001g0333 a0003c0004t0001g0338 a0003c0032t0001g0188 a0003c0032t0001g0215 a0003c0032t0001g0238 a0003c0126t0001g0234 a0004c0005t0002g0039 a0005c0007t0004g0206 a0006c0003t0001g0138 a0006c0003t0001g0143 a0006c0003t0001g0151 a0006c0003t0001g0237 a0006c0003t0001g0239 a0006c0003t0001g0240 a0006c0003t0001g0291 a0006c0003t0001g0318 a0006c0003t0002g0150 a0006c0003t0003g0153 a0008c0013t0001g0199 a0008c0013t0003g0195 a0008c0013t0003g0196 a0008c0013t0003g0343 a0010c0008t0001g0353 a0010c0008t0002g0218 a0011c0009t0001g0216 a0011c0009t0001g0217 a0011c0009t0001g0219 a0011c0009t0001g0220 a0011c0009t0001g0256 a0011c0009t0001g0328 a0011c0157t0006g0013 a0012c0025t0002g0139 a0013c0014t0004g0059 a0013c0014t0004g0060 a0014c0070t0002g0158 a0015c0011t0001g0149 a0015c0011t0002g0310 a0015c0011t0002g0314 a0015c0011t0002g0316 a0015c0011t0002g0317 a0016c0012t0002g0137 a0016c0012t0003g0145 a0016c0012t0003g0152 a0016c0012t0003g0304 a0019c0015t0002g0329 a0019c0015t0003g0135 a0019c0015t0003g0146 a0019c0015t0003g0155 a0019c0015t0003g0181 a0020c0124t0002g0315 a0033c0031t0004g0093 a0033c0031t0004g0209 a0033c0031t0004g0210 a0034c0156t0007g0015 a0035c0027t0003g0168 a0035c0027t0003g0187 a0036c0030t0002g0136 a0036c0030t0002g0223 a0040c0078t0002g0193 a0041c0040t0004g0050 a0044c0052t0002g0289 a0048c0050t0004g0084 a0053c0115t0009g0069 a0055c0042t0001g0344 a0055c0042t0001g0345 a0057c0051t0001g0221 a0059c0121t0003g0203 a0061c0077t0002g0285 a0067c0131t0003g0326 a0068c0132t0003g0288 a0073c0119t0002g0263 a0074c0127t0001g0235 a0085c0109t0001g0147 a0087c0129t0001g0213 a0089c0145t0001g0301 a0103c0112t0001g0190 a0104c0117t0002g0278 a0109c0125t0001g0141 a0110c0076t0001g0224	101	192	0.5260	-52	c.964 others(69): Show c.964+4313_964+4364delATATATAGATATCTATGTATATAGATAT ATATAGATATCTATGTATATAGAT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	3/47			chr9	TogoVar
SVOPL_chr7_138589285_138706362	138621866	CTATCTAT others(45): Show CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATGTATCTATCT ATG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0058 a0001c0005t0001g0059	2	340	0.0059	-52	c.126 others(69): Show c.1264-783_1264-732delCATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATAGATAGATA	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15			chr7	TogoVar
SWAP70_chr11_9659077_9757993	9671557	TATAAATA others(45): Show TATAAATATATTTATATAGAAATATATTTCTATATATAAATATATTTATA TAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0287 a0002c0001t0001g0287	1	292	0.0034	-52	c.99+ others(67): Show c.99+7281_99+7332delTAAATATATTTATATAGAAATATATTTCTA TATATAAATATATTTATATAGA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9705363	TACTTGGT others(45): Show TACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTG TAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0201 a0001c0003t0003g0201	1	289	0.0035	-52	c.241 others(69): Show c.241-7999_241-7948delCACTTGGTGATCTGTATACACTGGTGAT CTGTATACACTGGTGATCTGTGTA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706026	TTGGTGAT others(45): Show TTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0031 a0001c0003t0027g0031	1	271	0.0037	-52	c.241 others(69): Show c.241-7324_241-7273delATACACTGGTGATCTGTGTATACTTGGT GATCTGTATACACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706252	TTGGTGAT others(45): Show TTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18962.hp2 HG02630.hp1 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0010 a0001c0002t0002 a0001c0003t0010	a0001c0002t0002g0108 a0001c0003t0010g0023 a0001c0002t0002g0108 a0001c0003t0010g0023	2	166	0.0120	-52	c.241 others(69): Show c.241-7145_241-7094delCTGGTGATCTGTGTATACTTGGTGATCT GTATACACTGGTGATCTGTATACA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYN2_chr3_11999388_12197032	12003781	TGTGTGTG others(45): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCG CGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	262	0.0038	-52	c.-77 others(61): Show c.-770_-719delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GCGCGCGCGCGCGCGC	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding		606		chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313784	CATATATA others(45): Show CATATATATATATCCATATATATATCCATATATATATCCATATATATATC CAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp1 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0092 a0001c0001t0002g0004 a0001c0001t0002g0092	2	233	0.0086	-52	c.84+ others(69): Show c.84+35053_84+35104delATCCATATATATATCCATATATATATCC ATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595735	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATAATTTTATATATATAT AGT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	244	0.0041	-52	c.409 others(71): Show c.409-13377_409-13326delTATATATATATATATATATATAATTT TATATATATATAGTTATATATATATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT3_chr19_50616977_50644881	50619900	TTTATTAT others(45): Show TTTATTATTATTATTATTATTATTATTATTATTATTATACCTGGATAATT TTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01106.hp1 others(36): Show HG00280.hp2 HG00642.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG02109.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG03239.hp2 HG03471.hp2 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 NA18949.hp2 NA18961.hp1 NA18963.hp2 NA18973.hp1 NA18980.hp1 NA18995.hp1 NA19009.hp1 NA19080.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0002c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0002g0052 a0001c0001t0003g0226 a0001c0001t0004g0154 a0001c0001t0011g0185 a0001c0001t0013g0213 a0001c0003t0003g0225 a0001c0004t0001g0040 a0001c0004t0001g0148 a0001c0004t0002g0050 a0001c0004t0002g0075 a0002c0006t0001g0131	39	329	0.1185	-52	c.25 others(63): Show c.2533_*2584delTAAAATTATCCAGGTATAATAATAATAATAATAA TAATAATAATAATAATAA	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding		2076		chr19	TogoVar

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