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
STXBP5L_chr3_120903205_121429761	120984632	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0258	1	106	0.0094	26	c.287 others(45): Show c.287+29617_287+29618insTTTTTTTTTTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0143 a0002c0002t0008g0143	1	174	0.0057	26	c.248 others(43): Show c.248+7410_248+7411insTGTGTGTGTGTGTGTGTGTGTGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147337214	C C	CACACACA others(19): Show CACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp2 HG02145.hp1 others(4): Show HG01192.hp2 HG01433.hp2 HG02145.hp1 HG02965.hp2 HG03834.hp2 HG04228.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0013 a0001c0001t0026 others(2): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0026 a0002c0002t0002 a0002c0002t0008	a0001c0001t0006g0152 a0001c0001t0013g0178 a0001c0001t0013g0184 others(4): Show a0001c0001t0006g0152 a0001c0001t0013g0178 a0001c0001t0013g0184 a0001c0001t0026g0176 a0002c0002t0002g0082 a0002c0002t0008g0143 a0002c0002t0008g0248	7	197	0.0355	26	c.214 others(45): Show c.2147-1964_2147-1963insCACACACACACACACACACACACAAA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0124 a0002c0002t0002g0124	1	127	0.0079	26	c.72 others(37): Show c.7262_*7263insGAGAGAGAGAGAGTGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP6_chr14_24804454_25055147	24945139	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0142 a0001c0001t0029g0142	1	37	0.0270	26	c.154 others(45): Show c.154+29500_154+29525dupAAAAAAAAAAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24964647	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0237 a0001c0001t0024g0237	1	108	0.0093	26	c.154 others(44): Show c.154+9992_154+10017dupCACACACACACACACACACACACACA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	13	0.0769	26	c.308 others(43): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
SUCLA2_chr13_47937656_48006273	47943762	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	145	0.0069	26	c.131 others(43): Show c.1318-318_1318-317insTATATATATATATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47943764	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02074.hp2 HG02965.hp2 others(3): Show HG01952.hp2 HG02074.hp2 HG02965.hp2 NA18964.hp2 NA19000.hp1 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0229 others(3): Show a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0241 a0002c0002t0001g0245	6	108	0.0556	26	c.131 others(43): Show c.1318-320_1318-319insTATATATATATATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47943766	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0233	1	21	0.0476	26	c.131 others(43): Show c.1318-322_1318-321insTATATATATATATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47943766	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	21	0.0476	26	c.131 others(43): Show c.1318-322_1318-321insTATATATATATATATATATATATACA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18963.hp2 NA18967.hp1 others(1): Show HG03834.hp1 NA18963.hp2 NA18967.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0013 a0001c0001t0001 a0001c0006t0013	a0001c0001t0001g0096 a0001c0001t0001g0153 a0001c0001t0001g0207 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0153 a0001c0001t0001g0207 a0001c0006t0013g0278	4	38	0.1053	26	c.106 others(47): Show c.1063-21648_1063-21623dupTTTTTTTTTTTTTTTTTTTTTTTT TT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102637812	A A	AATATATT others(19): Show AATATATTATACATGATCATATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0137 a0001c0001t0010g0137	1	263	0.0038	26	c.76 others(37): Show c.7657_*7658insATATATTATACATGATCATATAAAAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4278		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637844	A A	ATATACAT others(19): Show ATATACATGATCATATAAAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	120	0.0083	26	c.76 others(37): Show c.7689_*7690insTATACATGATCATATAAAATATGTAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4310		chr10	TogoVar
SUGP2_chr19_18985893_19038517	18987696	T T	TGGGGATT others(19): Show TGGGGATTAATCCCCCAAACCCTTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	26	c.60 others(37): Show c.6044_*6045insCCCAAGGGTTTGGGGGATTAATCCCC	SUGP2	ENSG00000064607.17	transcript	ENST00000452918.7	protein_coding		3196		chr19	TogoVar
SUGT1_chr13_52647836_52705909	52701802	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG02145.hp1 others(9): Show HG00099.hp2 HG01255.hp1 HG02145.hp1 HG02165.hp2 HG02293.hp2 HG02602.hp1 HG02622.hp2 HG02809.hp1 HG03491.hp2 HG04199.hp2 NA19005.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0034 a0001c0001t0056 a0001c0001t0057 a0001c0001t0063	a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0108 others(9): Show a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0004g0014 a0001c0001t0004g0129 a0001c0001t0013g0007 a0001c0001t0014g0116 a0001c0001t0034g0072 a0001c0001t0056g0126 a0001c0001t0057g0087 a0001c0001t0063g0101	12	22	0.5455	26	c.13 others(39): Show c.13967_*13968insACACACACACACACACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		894		chr13	TogoVar
SUGT1_chr13_52647836_52705909	52701802	G G	GACACACA others(19): Show GACACACACAGACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0153 a0001c0001t0075g0153	1	11	0.0909	26	c.13 others(39): Show c.13967_*13968insACACACACAGACACACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		894		chr13	TogoVar
SULF2_chr20_47652406_47790481	47731182	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	342	0.0029	26	c.415 others(43): Show c.415+5520_415+5521insAAAAAAAAAAAAAAAAAAAAAAAAAA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
SULT1A2_chr16_28586943_28602050	28594770	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG06807.hp1 HG00099.hp2 HG06807.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0052 a0007c0007t0001g0052	2	182	0.0110	26	c.372 others(41): Show c.372+571_372+596dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SULT1A2	ENSG00000197165.11	transcript	ENST00000335715.9	protein_coding	4/7			chr16	TogoVar
SULT1C3_chr2_108234968_108265886	108254753	G G	GTATGTAT others(19): Show GTATGTATATATGTATGTATGCATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG02451.hp2 others(8): Show HG01167.hp1 HG02055.hp1 HG02451.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03209.hp1 NA18522.hp1	a0004 a0006 a0008 others(1): Show a0004 a0006 a0008 a0019	a0004c0005 a0006c0018 a0008c0013 others(1): Show a0004c0005 a0006c0018 a0008c0013 a0019c0023	a0004c0005t0001 a0006c0018t0001 a0008c0013t0001 others(1): Show a0004c0005t0001 a0006c0018t0001 a0008c0013t0001 a0019c0023t0001	a0004c0005t0001g0023 a0004c0005t0001g0106 a0004c0005t0001g0107 others(6): Show a0004c0005t0001g0023 a0004c0005t0001g0106 a0004c0005t0001g0107 a0006c0018t0001g0145 a0008c0013t0001g0101 a0008c0013t0001g0102 a0008c0013t0001g0103 a0008c0013t0001g0104 a0019c0023t0001g0100	11	374	0.0294	26	c.400 others(41): Show c.400-779_400-754dupATGTATGCATATATATGTATATATGT	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SULT1C3_chr2_108234968_108265886	108254770	T T	TATGCATA others(19): Show TATGCATATATATGTATATATGTATGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01261.hp1 HG01358.hp1 others(9): Show HG00642.hp2 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG02145.hp2 HG03017.hp2 HG03139.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG06807.hp2 NA20129.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0007c0007 a0004c0005 a0007c0007	a0004c0005t0001 a0007c0007t0001 a0004c0005t0001 a0007c0007t0001	a0004c0005t0001g0043 a0004c0005t0001g0044 a0004c0005t0001g0045 others(6): Show a0004c0005t0001g0043 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0099 a0004c0005t0001g0105 a0004c0005t0001g0148 a0007c0007t0001g0098	12	374	0.0321	26	c.400 others(41): Show c.400-777_400-776insCATGCATATATATGTATATATGTATG	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SULT2A1_chr19_47865467_47891315	47888365	T T	TATATATA others(19): Show TATATATATATGCATATATATATGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	98	0.0102	26	c.-21 others(37): Show c.-2109_-2108insGCGCATATATATATGCATATATATAT	SULT2A1	ENSG00000105398.4	transcript	ENST00000222002.4	protein_coding		2051		chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(19): Show CTTTTCTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01106.hp1 others(5): Show HG00099.hp2 HG00140.hp2 HG01106.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG03492.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001	a0001c0005t0001g0001 a0001c0005t0001g0072 a0001c0005t0001g0110 others(4): Show a0001c0005t0001g0001 a0001c0005t0001g0072 a0001c0005t0001g0110 a0001c0005t0001g0114 a0001c0005t0001g0236 a0001c0006t0001g0251 a0001c0007t0001g0112	8	89	0.0899	26	c.214 others(41): Show c.214+280_214+281insCTTTCTTTTTTTTTTTTTTTTTTTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	82	0.0122	26	c.214 others(41): Show c.214+280_214+281insCTTTTCTTTTTTTTTTTTTTTTTTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUMO3_chr21_44800617_44823062	44818234	C C	CGGCGGGC others(19): Show CGGCGGGCGCGGAAGCCCTAGGGCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02572.hp2 others(1): Show HG02055.hp1 HG02145.hp2 HG02572.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0093 a0001c0001t0006g0090 a0001c0001t0006g0091 others(1): Show a0001c0001t0004g0093 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092	4	404	0.0099	26	c.-26 others(35): Show c.-267_-266insAGCGCCCTAGGGCTTCCGCGCCCGCC	SUMO3	ENSG00000184900.16	transcript	ENST00000332859.11	protein_coding		173		chr21	TogoVar
SUN5_chr20_32978775_33009433	33001544	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	373	0.0027	26	c.212 others(41): Show c.212-267_212-266insGAAAGAAAGAAAGAAAGAAAGAAAGA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUN5_chr20_32978775_33009433	33001563	T T	TTTCTTTC others(19): Show TTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	376	0.0027	26	c.212 others(41): Show c.212-286_212-285insGAAGAAAGAAAGAAAGAAAGAAAGAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUN5_chr20_32978775_33009433	33001564	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03017.hp2 HG03927.hp1 HG00735.hp1 HG03017.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0124 a0001c0001t0001g0264 a0002c0002t0001g0060 a0001c0001t0001g0124 a0001c0001t0001g0264 a0002c0002t0001g0060	3	375	0.0080	26	c.212 others(41): Show c.212-287_212-286insGAAAGAAAGAAAGAAAGAAAGAAAGA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	214	0.0047	26	c.-14 others(37): Show c.-1456_-1455insTATATATATATATATATTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	214	0.0047	26	c.-14 others(37): Show c.-1456_-1455insTATATATATATATTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT3H_chr6_44821726_45382934	45120417	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp1 NA20905.hp2 HG03209.hp1 HG03516.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0052 a0001c0001t0007g0190 a0001c0001t0010g0191 a0001c0001t0007g0052 a0001c0001t0007g0190 a0001c0001t0010g0191	3	7	0.4286	26	c.102 others(45): Show c.102-14412_102-14411insTTTTTTTTTTTTTTTTTTTTTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCATATAT others(19): Show GCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0186 a0001c0001t0004g0187	2	122	0.0164	26	c.102 others(47): Show c.102-124655_102-124654insTATATATATATATATATATATATA TG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCCTATAT others(19): Show GCCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02965.hp1 NA18522.hp2 HG00408.hp2 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0200 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0200	3	123	0.0244	26	c.102 others(47): Show c.102-124655_102-124654insTATATATATATATATATATATATA GG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253848	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02922.hp1 NA20905.hp1 HG02155.hp1 HG02922.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0093 a0001c0001t0001g0254 a0001c0001t0003g0028 a0001c0001t0001g0093 a0001c0001t0001g0254 a0001c0001t0003g0028	3	30	0.1000	26	c.101 others(47): Show c.101+111352_101+111353insATATATATATATATATATATATAT AT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD1_chr9_112035783_112180297	112086562	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	314	0.0032	26	c.147 others(45): Show c.1475-6398_1475-6397insTTCTTTCTTTCTTTCTTTCTTTCTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	10/16			chr9	TogoVar
SUSD1_chr9_112035783_112180297	112165922	A A	AAAAGAAA others(19): Show AAAAGAAAGAAAGAAAGAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0267 a0001c0006t0002g0267	1	233	0.0043	26	c.104 others(43): Show c.104-8310_104-8309insCTTTCTTCTTCTTTCTTTCTTTCTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	1/16			chr9	TogoVar
SUSD4_chr1_223215831_223369176	223268009	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	274	0.0036	26	c.535 others(41): Show c.535+492_535+493insTATATATATATATATATATATATATA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUSD4_chr1_223215831_223369176	223268011	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02886.hp1 NA18942.hp2 HG01361.hp2 HG02886.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0010 a0002c0005t0002 a0001c0001t0001 a0001c0001t0010 a0002c0005t0002	a0001c0001t0001g0052 a0001c0001t0010g0088 a0002c0005t0002g0178 a0001c0001t0001g0052 a0001c0001t0010g0088 a0002c0005t0002g0178	3	101	0.0297	26	c.535 others(41): Show c.535+490_535+491insTATATATATATATATATATATATATA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUSD4_chr1_223215831_223369176	223268013	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19067.hp2 HG03654.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0162 a0001c0014t0001g0099 a0001c0001t0001g0162 a0001c0014t0001g0099	2	14	0.1429	26	c.535 others(41): Show c.535+463_535+488dupTATATATATATATATATATATATATA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUSD5_chr3_33145043_33223810	33183930	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0124 a0003c0003t0004g0124	1	28	0.0357	26	c.410 others(43): Show c.410-8857_410-8856insAAAAAAAAAAAAAAAAAAAAAAAAAA	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	3/4			chr3	TogoVar
SUSD6_chr14_69606596_69720144	69656120	C C	CTCTTCCT others(19): Show CTCTTCCTCCATTCTTCCCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0176 a0001c0001t0037g0176	1	284	0.0035	26	c.-80 others(43): Show c.-80-2367_-80-2342dupGTCTTCCTCCATTCTTCCCTCCCTCC	SUSD6	ENSG00000100647.8	transcript	ENST00000342745.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SV2B_chr15_91095257_91307565	91168301	C C	CGAGAGAG others(19): Show CGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	85	0.0118	26	c.-39 others(47): Show c.-391-57567_-391-57542dupGAGAGAGAGAGAGAGAGAGAGAGA GA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91221691	G G	GTGCACGC others(19): Show GTGCACGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0032 a0001c0006t0032	a0001c0006t0032g0145 a0001c0006t0032g0145	1	138	0.0072	26	c.-39 others(45): Show c.-391-4182_-391-4181insTGCACGCGCGCGCGCACACACACACA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12			chr15	TogoVar
SV2B_chr15_91095257_91307565	91221691	G G	GTGCACGC others(19): Show GTGCACGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp1 HG03540.hp1 others(1): Show HG02886.hp1 HG02970.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0072 a0001c0004t0026 a0001c0006t0004 a0001c0002t0072 a0001c0004t0026 a0001c0006t0004	a0001c0002t0072g0063 a0001c0004t0026g0011 a0001c0004t0026g0075 others(1): Show a0001c0002t0072g0063 a0001c0004t0026g0011 a0001c0004t0026g0075 a0001c0006t0004g0017	4	141	0.0284	26	c.-39 others(45): Show c.-391-4182_-391-4181insTGCACGCGCGCGCGCGCACACACACA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12			chr15	TogoVar
SV2B_chr15_91095257_91307565	91221691	G G	GTGCACGC others(19): Show GTGCACGCGCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0071 a0001c0004t0071	a0001c0004t0071g0188 a0001c0004t0071g0188	1	138	0.0072	26	c.-39 others(45): Show c.-391-4182_-391-4181insTGCACGCGCGCGCGCGCGCACACACA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12			chr15	TogoVar
SV2C_chr5_76078383_76338956	76245922	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTATGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0227 a0001c0001t0070g0227	1	222	0.0045	26	c.913 others(45): Show c.913+36048_913+36049insGTGTGTATGTGTATGTGTGTGTGTGT	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0021 a0021	a0021c0165 a0021c0165	a0021c0165t0008 a0021c0165t0008	a0021c0165t0008g0006 a0021c0165t0008g0006	1	217	0.0046	26	c.982 others(45): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02300.hp1 NA18998.hp2 others(1): Show HG01257.hp1 HG02300.hp1 NA18998.hp2 NA19057.hp1	a0002 a0015 a0028 a0002 a0015 a0028	a0002c0001 a0015c0011 a0028c0038 a0002c0001 a0015c0011 a0028c0038	a0002c0001t0002 a0015c0011t0002 a0028c0038t0002 a0002c0001t0002 a0015c0011t0002 a0028c0038t0002	a0002c0001t0002g0167 a0015c0011t0002g0317 a0028c0038t0002g0280 others(1): Show a0002c0001t0002g0167 a0015c0011t0002g0317 a0028c0038t0002g0280 a0028c0038t0002g0284	4	220	0.0182	26	c.982 others(45): Show c.9823-2547_9823-2546insTATATATATATATATATATATATAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110434666	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02622.hp2 others(1): Show HG02258.hp1 HG02615.hp2 HG02622.hp2 HG03225.hp2	a0030 a0082 a0083 others(1): Show a0030 a0082 a0083 a0096	a0030c0034 a0082c0103 a0083c0098 others(1): Show a0030c0034 a0082c0103 a0083c0098 a0096c0084	a0030c0034t0005 a0082c0103t0005 a0083c0098t0001 others(1): Show a0030c0034t0005 a0082c0103t0005 a0083c0098t0001 a0096c0084t0005	a0030c0034t0005g0083 a0082c0103t0005g0077 a0083c0098t0001g0098 others(1): Show a0030c0034t0005g0083 a0082c0103t0005g0077 a0083c0098t0001g0098 a0096c0084t0005g0076	4	39	0.1026	26	c.488 others(43): Show c.4889-161_4889-160insTTTTTTTTTTTTTTTTTTTTTTTTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110541750	C C	CATCTATA others(19): Show CATCTATATACATAGATATCTATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG02723.hp1 others(7): Show HG02258.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG03209.hp1 HG03579.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp1	a0001 a0007 a0012 others(3): Show a0001 a0007 a0012 a0050 a0052 a0108	a0001c0002 a0007c0019 a0007c0159 others(5): Show a0001c0002 a0007c0019 a0007c0159 a0012c0025 a0050c0054 a0052c0142 a0052c0166 a0108c0154	a0001c0002t0001 a0007c0019t0001 a0007c0019t0004 others(7): Show a0001c0002t0001 a0007c0019t0001 a0007c0019t0004 a0007c0159t0008 a0012c0025t0004 a0050c0054t0001 a0050c0054t0004 a0052c0142t0002 a0052c0166t0006 a0108c0154t0003	a0001c0002t0001g0119 a0007c0019t0001g0071 a0007c0019t0004g0092 others(7): Show a0001c0002t0001g0119 a0007c0019t0001g0071 a0007c0019t0004g0092 a0007c0159t0008g0017 a0012c0025t0004g0132 a0050c0054t0001g0096 a0050c0054t0004g0097 a0052c0142t0002g0082 a0052c0166t0006g0008 a0108c0154t0003g0360	10	101	0.0990	26	c.964 others(43): Show c.964+4339_964+4364dupATATATAGATATCTATGTATATAGAT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	3/47			chr9	TogoVar

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