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
SRPK2_chr7_105111374_105393921	105170745	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02109.hp2 HG02818.hp2 others(3): Show HG01358.hp2 HG02109.hp2 HG02818.hp2 NA18965.hp2 NA19003.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0107 a0001c0001t0001g0190 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0107 a0001c0001t0001g0190 a0001c0001t0001g0208 a0001c0002t0003g0038 a0001c0002t0003g0041	6	73	0.0822	28	c.230 others(45): Show c.230-1508_230-1481dupTCCTTCCTTCCTTCCTTCCTTCCTTCCT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02886.hp2 HG02273.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0133 a0001c0001t0002g0184 a0001c0001t0001g0133 a0001c0001t0002g0184	2	16	0.1250	28	c.164 others(45): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG03471.hp1 others(3): Show HG00558.hp2 HG00639.hp2 HG03471.hp1 NA18949.hp1 NA18999.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0165 a0001c0001t0001g0221 a0001c0001t0001g0235 others(3): Show a0001c0001t0001g0165 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0272	6	120	0.0500	28	c.-28 others(39): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG04199.hp1 NA18612.hp2 others(2): Show HG00741.hp1 HG04199.hp1 NA18612.hp2 NA18947.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0224 others(2): Show a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0002g0188	5	77	0.0649	28	c.726 others(43): Show c.726-398_726-371dupATATATATATATATATATATATATATAT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	127	0.0079	28	c.37 others(39): Show c.3765_*3766insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2771		chr1	TogoVar
SRRM4_chr12_118976541_119168051	119122292	C C	CAGGAAGG others(21): Show CAGGAAGGCAGGAAGGCAGGAAGGCAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0140 a0002c0002t0020g0140	1	120	0.0083	28	c.515 others(43): Show c.515+179_515+180insCAGGAAGGCAGGAAGGCAGGAAGGAAGG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM5_chr19_43607088_43619498	43609359	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0019 a0019	a0019c0015 a0019c0015	a0019c0015t0001 a0019c0015t0001	a0019c0015t0001g0000 a0019c0015t0001g0000	1	285	0.0035	28	c.-27 others(39): Show c.-2763_-2762insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding		2728		chr19	TogoVar
SRXN1_chr20_641615_658200	642133	G G	GGGGGTGC others(21): Show GGGGGTGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 NA20300.hp2 HG01496.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0047 a0001c0002t0005g0047	2	417	0.0048	28	c.65 others(39): Show c.6580_*6581insAGGCAACTCCACCCCCGCTGGGCACCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4481		chr20	TogoVar
SRXN1_chr20_641615_658200	642168	G G	GGGGGCCC others(21): Show GGGGGCCCAGCGGGGGTGGAGTTGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03209.hp2 HG02615.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0071 a0001c0001t0004g0016 a0001c0001t0004g0071	2	419	0.0048	28	c.65 others(39): Show c.6545_*6546insGCAGGCAACTCCACCCCCGCTGGGCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4446		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62183065	C C	CGGGAGCG others(21): Show CGGGAGCGGGGAGCGGGGAGCGGGGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0194 a0002c0003t0005g0194	1	269	0.0037	28	c.38 others(39): Show c.3857_*3858insGGGAGCGGGGAGCGGGGAGCGGGGAGCG	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding		552		chr20	TogoVar
SS18_chr18_26011253_26095613	26065800	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18974.hp1 HG00673.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0160 a0001c0001t0001g0161	2	9	0.2222	28	c.232 others(45): Show c.232-8059_232-8058insATATATATATATATATATATATATATAT	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	3/10			chr18	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03579.hp2 HG02896.hp2 HG02897.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0062 a0001c0001t0027 a0001c0001t0062	a0001c0001t0027g0001 a0001c0001t0027g0147 a0001c0001t0062g0083 a0001c0001t0027g0001 a0001c0001t0027g0147 a0001c0001t0062g0083	3	73	0.0411	28	c.45 others(39): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0154 a0001c0001t0014g0154	1	126	0.0079	28	c.927 others(45): Show c.927+3680_927+3681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54276608	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0074	1	61	0.0164	28	c.366 others(45): Show c.366+4829_366+4830insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	5/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp2 HG03540.hp1 others(5): Show HG02451.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 NA18977.hp2 NA18995.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0002t0013	a0001c0001t0001g0047 a0001c0001t0002g0094 a0001c0001t0003g0227 others(5): Show a0001c0001t0001g0047 a0001c0001t0002g0094 a0001c0001t0003g0227 a0001c0001t0004g0131 a0001c0001t0008g0252 a0001c0001t0018g0261 a0001c0002t0013g0044 a0001c0002t0013g0095	8	62	0.1290	28	c.277 others(47): Show c.277-17431_277-17404dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54337485	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0042 a0001c0002t0013g0042	1	63	0.0159	28	c.277 others(47): Show c.277-55986_277-55959dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20752.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0098 a0001c0001t0011g0015 a0001c0001t0004g0098 a0001c0001t0011g0015	2	77	0.0260	28	c.276 others(47): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0177 a0001c0001t0007g0177	1	97	0.0103	28	c.276 others(45): Show c.276+5667_276+5668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC4D_chr7_76384337_76414697	76405271	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0089 a0001c0004t0003g0089	1	117	0.0085	28	c.-66 others(43): Show c.-66-767_-66-766insTATATATATATATATATATATATATAAA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(21): Show ATATATATATATATATATAATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0083 a0003c0083	a0003c0083t0002 a0003c0083t0002	a0003c0083t0002g0246 a0003c0083t0002g0246	1	190	0.0053	28	c.138 others(45): Show c.1387+451_1387+452insATATATATATATATATAATTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0405 a0001c0010t0001g0405	1	190	0.0053	28	c.138 others(45): Show c.1387+451_1387+452insATATATATATATATATATATATATAATT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02273.hp2 HG02040.hp1 HG02273.hp2	a0005 a0006 a0005 a0006	a0005c0005 a0006c0008 a0005c0005 a0006c0008	a0005c0005t0001 a0006c0008t0001 a0005c0005t0001 a0006c0008t0001	a0005c0005t0001g0221 a0006c0008t0001g0216 a0005c0005t0001g0221 a0006c0008t0001g0216	2	191	0.0105	28	c.138 others(45): Show c.1387+451_1387+452insATATATATATATATATATATTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0202 a0005c0005t0001g0202	1	190	0.0053	28	c.138 others(45): Show c.1387+451_1387+452insATATATATATATATATATTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0205 a0005c0005t0001g0205	1	190	0.0053	28	c.138 others(45): Show c.1387+451_1387+452insATATATATATATATTTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108859356	C C	CCTGCCTG others(21): Show CCTGCCTGCCTTCCTTCCTTCCTTCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0306 a0001c0001t0089g0306	1	330	0.0030	28	c.-18 others(39): Show c.-1861_-1860insAGAGGAAGGAAGGAAGGAAGGCAGGCAG	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		1774		chr12	TogoVar
SSH2_chr17_29620938_29935228	29709015	T T	TATATATA others(21): Show TATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0006 a0001c0001t0020g0006	1	128	0.0078	28	c.189 others(45): Show c.189-5954_189-5953insCTCTCTCTCTCTCTATATATATATATAT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	3/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29709015	T T	TATATATA others(21): Show TATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0086 a0001c0001t0013g0086	1	128	0.0078	28	c.189 others(45): Show c.189-5954_189-5953insCTCTCTCTCTATATATATATATATATAT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	3/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAATTATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0020 a0007c0009t0001g0020	1	85	0.0118	28	c.63+ others(45): Show c.63+16590_63+16591insATATATATAATTTTTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAATTATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	85	0.0118	28	c.63+ others(45): Show c.63+16590_63+16591insATATATATATAATTTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01934.hp2 HG02273.hp2 HG01496.hp1 HG01934.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0027g0058 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0027g0058	3	87	0.0345	28	c.63+ others(45): Show c.63+16590_63+16591insATATATATATATAATTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29930520	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	230	0.0043	28	c.-52 others(37): Show c.-521_-520insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding		293		chr17	TogoVar
SSPN_chr12_26190573_26239777	26233331	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 NA19090.hp2 NA20300.hp2 HG01884.hp1 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0045 a0001c0002t0028 a0001c0001t0045 a0001c0002t0028	a0001c0001t0045g0056 a0001c0002t0028g0160 a0001c0002t0028g0201 a0001c0001t0045g0056 a0001c0002t0028g0160 a0001c0002t0028g0201	3	137	0.0219	28	c.22 others(39): Show c.2274_*2275insTATATATATATATATATATATATATATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	3/3	2275	INFO_REALIGN_3_PRIME	chr12	TogoVar
SSR1_chr6_7276143_7318199	7317273	A A	ACGCTGTC others(21): Show ACGCTGTCACCTCTCAGAGCTACCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(68): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00558.hp2 HG00733.hp2 HG01081.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18951.hp1 NA18965.hp2 NA18970.hp2 NA18975.hp2 NA19001.hp1 NA19001.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19084.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0069 a0002c0002t0004 a0002c0002t0006 others(21): Show a0001c0001t0069 a0002c0002t0004 a0002c0002t0006 a0002c0002t0012 a0002c0002t0018 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0051 a0002c0002t0052 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0062 a0002c0002t0063	a0001c0001t0069g0332 a0002c0002t0004g0049 a0002c0002t0004g0050 others(59): Show a0001c0001t0069g0332 a0002c0002t0004g0049 a0002c0002t0004g0050 a0002c0002t0004g0280 a0002c0002t0004g0297 a0002c0002t0004g0306 a0002c0002t0004g0307 a0002c0002t0004g0308 a0002c0002t0004g0313 a0002c0002t0004g0314 a0002c0002t0004g0315 a0002c0002t0004g0316 a0002c0002t0006g0008 a0002c0002t0006g0052 a0002c0002t0006g0318 a0002c0002t0006g0319 a0002c0002t0006g0320 a0002c0002t0006g0323 a0002c0002t0006g0326 a0002c0002t0006g0327 a0002c0002t0006g0329 a0002c0002t0006g0330 a0002c0002t0006g0338 a0002c0002t0012g0022 a0002c0002t0012g0111 a0002c0002t0012g0116 a0002c0002t0012g0117 a0002c0002t0012g0118 a0002c0002t0012g0119 a0002c0002t0012g0123 a0002c0002t0018g0333 a0002c0002t0018g0334 a0002c0002t0018g0335 a0002c0002t0018g0336 a0002c0002t0018g0337 a0002c0002t0024g0324 a0002c0002t0024g0325 a0002c0002t0025g0255 a0002c0002t0025g0261 a0002c0002t0025g0263 a0002c0002t0026g0293 a0002c0002t0026g0294 a0002c0002t0026g0299 a0002c0002t0029g0260 a0002c0002t0029g0282 a0002c0002t0033g0115 a0002c0002t0033g0122 a0002c0002t0034g0023 a0002c0002t0035g0257 a0002c0002t0035g0258 a0002c0002t0036g0051 a0002c0002t0051g0120 a0002c0002t0052g0114 a0002c0002t0054g0112 a0002c0002t0055g0113 a0002c0002t0056g0321 a0002c0002t0057g0331 a0002c0002t0058g0264 a0002c0002t0059g0259 a0002c0002t0060g0296 a0002c0002t0062g0292 a0002c0002t0063g0295	71	432	0.1644	28	c.-41 others(39): Show c.-4154_-4153insGCCCTGGTAGCTCTGAGAGGTGACAGCG	SSR1	ENSG00000124783.14	transcript	ENST00000244763.9	protein_coding		4075		chr6	TogoVar
SSU72L6_chr7_124471317_124482664	124479016	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	284	0.0035	28	c.20 others(39): Show c.2061_*2062insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1353		chr7	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG03579.hp1 others(2): Show HG02258.hp1 HG02965.hp2 HG03579.hp1 HG03710.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0001g0191 a0001c0001t0003g0199 a0001c0001t0008g0063	5	149	0.0336	28	c.58 others(39): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST13_chr22_40819535_40861639	40821750	G G	GTATATAT others(21): Show GTATATATATATATATATATATACACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	78	0.0128	28	c.47 others(39): Show c.4787_*4788insTACGTGTATATATATATATATATATATA	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2784		chr22	TogoVar
ST13_chr22_40819535_40861639	40821758	A A	ATATATAT others(21): Show ATATATATATATACGTATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	331	0.0030	28	c.47 others(39): Show c.4779_*4780insCGTATATATATATACGTATATATATATA	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2776		chr22	TogoVar
ST13_chr22_40819535_40861639	40821792	G G	GTATATAT others(21): Show GTATATATATATACGTATATATACGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	225	0.0044	28	c.47 others(39): Show c.4745_*4746insTATACGTATATATACGTATATATATATA	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2742		chr22	TogoVar
ST13_chr22_40819535_40861639	40821813	T T	TACGTATA others(21): Show TACGTATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG02486.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0071 a0001c0001t0013g0070 a0001c0001t0001g0071 a0001c0001t0013g0070	2	231	0.0087	28	c.47 others(39): Show c.4724_*4725insGTGTGTATATATATATATATATATACGT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2721		chr22	TogoVar
ST13_chr22_40819535_40861639	40821832	A A	ATATATGT others(21): Show ATATATGTATATATATATACACATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	342	0.0029	28	c.47 others(39): Show c.4705_*4706insCGTATATGTGTATATATATATACATATA	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2702		chr22	TogoVar
ST18_chr8_52105838_52414756	52370362	G G	GTGTGTGT others(21): Show GTGTGTGTGTGCATGCATGCATGTGTGCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0007 a0005c0007t0007	a0005c0007t0007g0098 a0005c0007t0007g0098	1	102	0.0098	28	c.-46 others(49): Show c.-465+38965_-465+38966insTGCACACATGCATGCATGCACACA CACA	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540858	T T	TATATATA others(21): Show TATATATATAGAGACATATATATAGAGAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01261.hp1 others(25): Show HG01109.hp1 HG01167.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG02083.hp1 HG02109.hp2 HG02273.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03225.hp2 HG03491.hp2 HG03579.hp2 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18992.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0004c0007	a0001c0001t0001 a0001c0001t0031 a0001c0001t0040 others(15): Show a0001c0001t0001 a0001c0001t0031 a0001c0001t0040 a0001c0001t0060 a0001c0002t0002 a0001c0002t0018 a0001c0002t0071 a0001c0002t0083 a0001c0003t0004 a0001c0003t0007 a0001c0003t0024 a0001c0003t0072 a0001c0003t0080 a0001c0004t0003 a0001c0004t0062 a0002c0005t0003 a0002c0005t0059 a0004c0007t0076	a0001c0001t0001g0026 a0001c0001t0001g0049 a0001c0001t0001g0238 others(25): Show a0001c0001t0001g0026 a0001c0001t0001g0049 a0001c0001t0001g0238 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0031g0001 a0001c0001t0040g0109 a0001c0001t0060g0226 a0001c0002t0002g0038 a0001c0002t0002g0178 a0001c0002t0018g0061 a0001c0002t0071g0297 a0001c0002t0083g0309 a0001c0003t0004g0014 a0001c0003t0004g0021 a0001c0003t0004g0060 a0001c0003t0007g0248 a0001c0003t0024g0298 a0001c0003t0024g0300 a0001c0003t0072g0068 a0001c0003t0080g0307 a0001c0004t0003g0030 a0001c0004t0003g0105 a0001c0004t0003g0241 a0001c0004t0062g0293 a0002c0005t0003g0007 a0002c0005t0059g0210 a0004c0007t0076g0311	28	320	0.0875	28	c.-42 others(47): Show c.-429+4915_-429+4916insGTCTCTATATATATGTCTCTATATAT AT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0082 a0001c0003t0082	a0001c0003t0082g0306 a0001c0003t0082g0306	1	45	0.0222	28	c.-42 others(47): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTCTCTATATAT AT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(21): Show TATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0195 a0002c0005t0006g0195	1	45	0.0222	28	c.-42 others(47): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTCTATATATAT AT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA20752.hp2 HG03704.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0073 a0001c0001t0002g0036 a0001c0001t0002g0073	2	93	0.0215	28	c.-10 others(51): Show c.-1003-10735_-1003-10708dupAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43857582	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18941.hp2 NA18969.hp2 others(1): Show NA18939.hp2 NA18941.hp2 NA18969.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0172 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0183	4	69	0.0580	28	c.302 others(47): Show c.302+19274_302+19275insTCCTTCCTTCCTTCCTTCCTTCCTTC CT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43911562	C C	CATATCTG others(21): Show CATATCTGTAGCTATAGATATCTATAGAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02258.hp1 others(15): Show HG01891.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(15): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265	18	235	0.0766	28	c.745 others(45): Show c.745-8818_745-8791dupTAGATATATCTGTAGCTATAGATATCTA	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GAL1_chr3_186925526_187083553	186984740	T T	TTCCTTCC others(21): Show TTCCTTCCTCCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	350	0.0029	28	c.-18 others(49): Show c.-183+20817_-183+20818insTTCCTCCCTTCCTTCCTTCCTTCC CTCC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GAL2_chr2_106796600_106891167	106884934	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	292	0.0034	28	c.-58 others(45): Show c.-58+1158_-58+1159insGTATATATATATATATATATATATATAT	ST6GAL2	ENSG00000144057.16	transcript	ENST00000409382.8	protein_coding	1/5			chr2	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76183851	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03486.hp2 HG02647.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0021 a0001c0003t0002 a0001c0001t0021 a0001c0003t0002	a0001c0001t0021g0066 a0001c0003t0002g0024 a0001c0001t0021g0066 a0001c0003t0002g0024	2	26	0.0769	28	c.18+ others(47): Show c.18+108989_18+108990insATATATATATATATATATATATATAT AT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar

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