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
ST3GAL3_chr1_43702536_43936159	43906164	T T	TTCCCCTT others(30): Show TTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCCTGTG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	272	0.0037	37	c.744 others(54): Show c.744+6473_744+6474insGTCCCCTTCCTGCCACTCTTCCTCCCCC TCCTCCTGT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43906186	T T	TCCCCCTC others(30): Show TCCCCCTCCTCCTGTTCCCCTTCCTGCCACTCTTCCTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19062.hp1 NA18949.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0051 a0001c0001t0002g0021 a0001c0001t0002g0051	2	272	0.0074	37	c.744 others(54): Show c.744+6464_744+6500dupCTCCTCCTGTTCCCCTTCCTGCCACTCT TCCTCCCCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76368464	T T	TGATGCCC others(30): Show TGATGCCCCAAATCTGATGGTATGCCACTTCCTCTCCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 HG06807.hp2 HG03139.hp2 HG03225.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0019 a0002c0002t0001 a0002c0002t0014 a0001c0001t0019 a0002c0002t0001 a0002c0002t0014	a0001c0001t0019g0082 a0002c0002t0001g0045 a0002c0002t0014g0084 a0001c0001t0019g0082 a0002c0002t0001g0045 a0002c0002t0014g0084	3	102	0.0294	37	c.214 others(56): Show c.214-43541_214-43505dupTGCCCCAAATCTGATGGTATGCCACT TCCTCTCCAGA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0202 a0001c0001t0016g0202	1	88	0.0114	37	c.75 others(48): Show c.7568_*7569insTATATATATATATATATATATATATATATATATT TTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
STAB2_chr12_103582273_103771719	103766979	G G	GGTGGGAA others(30): Show GGTGGGAATCCAAAATAGTACAGCCACTGTAGAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0019 a0019	a0019c0143 a0019c0143	a0019c0143t0001 a0019c0143t0001	a0019c0143t0001g0216 a0019c0143t0001g0216	1	254	0.0039	37	c.64 others(46): Show c.643_*644insGTGGGAATCCAAAATAGTACAGCCACTGTAGAAAAC A	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		261		chr12	TogoVar
STAG3_chr7_100172918_100219381	100196160	T T	TAGATGTT others(30): Show TAGATGTTTCTCACTCTTACCTAGGTTTCACTTCTGCC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0161 a0001c0002t0002g0161	1	320	0.0031	37	c.941 others(52): Show c.941+779_941+815dupAGATGTTTCTCACTCTTACCTAGGTTTCAC TTCTGCC	STAG3	ENSG00000066923.19	transcript	ENST00000615138.5	protein_coding	9/33		INFO_REALIGN_3_PRIME	chr7	TogoVar
STARD13_chr13_33098137_33290755	33240671	T T	TATCCTTA others(30): Show TATCCTTAAGTTTATCCTTAAGTATTTTATCCTTAAGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01071.hp1 others(46): Show HG00323.hp1 HG00642.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03491.hp2 HG03654.hp1 HG03710.hp2 NA18944.hp2 NA18967.hp1 NA18977.hp2 NA18994.hp1 NA19007.hp2 NA19054.hp2 NA19062.hp2 NA19066.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0018 a0001c0027 a0002c0003 a0003c0006 a0005c0024 a0007c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0004t0002 a0001c0004t0008 a0001c0005t0005 a0001c0008t0002 a0001c0008t0027 a0001c0011t0001 a0001c0013t0001 a0001c0015t0004 a0001c0018t0009 a0001c0027t0004 a0002c0003t0001 a0002c0003t0003 a0003c0006t0001 a0005c0024t0002 a0007c0021t0003	a0001c0001t0001g0124 a0001c0001t0001g0153 a0001c0001t0001g0283 others(45): Show a0001c0001t0001g0124 a0001c0001t0001g0153 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0287 a0001c0001t0004g0060 a0001c0001t0010g0063 a0001c0001t0011g0297 a0001c0001t0019g0276 a0001c0002t0001g0041 a0001c0002t0001g0176 a0001c0002t0002g0009 a0001c0002t0002g0217 a0001c0002t0002g0255 a0001c0002t0002g0288 a0001c0002t0002g0290 a0001c0002t0003g0040 a0001c0002t0003g0280 a0001c0002t0012g0005 a0001c0004t0002g0002 a0001c0004t0002g0053 a0001c0004t0002g0247 a0001c0004t0008g0293 a0001c0005t0005g0294 a0001c0008t0002g0160 a0001c0008t0027g0298 a0001c0011t0001g0243 a0001c0013t0001g0181 a0001c0013t0001g0257 a0001c0015t0004g0065 a0001c0018t0009g0180 a0001c0027t0004g0277 a0002c0003t0001g0170 a0002c0003t0001g0272 a0002c0003t0001g0291 a0002c0003t0003g0128 a0002c0003t0003g0194 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0285 a0002c0003t0003g0286 a0002c0003t0003g0289 a0003c0006t0001g0198 a0003c0006t0001g0200 a0005c0024t0002g0275 a0007c0021t0003g0256	49	291	0.1684	37	c.169 others(56): Show c.169+44762_169+44798dupCCTTAAGGATAAAATACTTAAGGATA AACTTAAGGAT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	31	0.0323	37	c.210 others(54): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG02559.hp2 HG01167.hp1 HG02257.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0066 a0002c0002t0001g0047 a0001c0001t0001g0035 a0001c0001t0001g0066 a0002c0002t0001g0047	3	33	0.0909	37	c.210 others(54): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	31	0.0323	37	c.210 others(54): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	31	0.0323	37	c.210 others(54): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354014	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0097 a0001c0007t0001g0097	1	185	0.0054	37	c.782 others(52): Show c.782+451_782+452insATATATATATATATATATATATATATATAT ATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	62	0.0161	37	c.782 others(52): Show c.782+449_782+450insATATATATATATATATATATATATATATAT TTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0069 a0001c0001t0006g0069	1	62	0.0161	37	c.782 others(52): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	62	0.0161	37	c.782 others(52): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAACAAAAAAAAAACAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0276 a0001c0001t0002g0267 a0001c0001t0002g0276	2	211	0.0095	37	c.610 others(54): Show c.610-2002_610-2001insTTGTTTTTTTTTTGTTTTTTTTTTGTTT TTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	192	0.0052	37	c.762 others(56): Show c.762+35592_762+35593insAAAAAAAAAAAAAAATATATATATAT ATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	192	0.0052	37	c.762 others(56): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456973	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18990.hp2 NA19091.hp1 HG01099.hp1 NA18990.hp2 NA19091.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0205 a0004c0004t0001g0166 a0004c0004t0001g0167 a0003c0003t0001g0205 a0004c0004t0001g0166 a0004c0004t0001g0167	3	332	0.0090	37	c.762 others(56): Show c.762+35591_762+35592insTATATATATATATATATATATATATA TATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18968.hp1 NA19070.hp2 NA18945.hp1 NA18968.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0186 a0001c0001t0001g0190 a0002c0003t0001g0131 a0001c0001t0001g0186 a0001c0001t0001g0190 a0002c0003t0001g0131	3	133	0.0226	37	c.483 others(54): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18964.hp1 NA19062.hp2 HG01099.hp2 NA18964.hp1 NA19062.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0137 a0002c0003t0001g0145 a0002c0003t0001g0157 a0002c0003t0001g0137 a0002c0003t0001g0145 a0002c0003t0001g0157	3	133	0.0226	37	c.483 others(54): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18953.hp2 NA19007.hp2 HG00099.hp2 NA18953.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0203 a0002c0003t0001g0115 a0002c0003t0001g0116 a0001c0001t0001g0203 a0002c0003t0001g0115 a0002c0003t0001g0116	3	133	0.0226	37	c.483 others(54): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT TTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	131	0.0076	37	c.483 others(54): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT TTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(30): Show TTATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	127	0.0079	37	c.947 others(52): Show c.947+808_947+809insTTATATATATATATATATATATATATATAT ATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STK4_chr20_44961512_45085021	45011730	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0148 a0002c0002t0007g0148	1	278	0.0036	37	c.114 others(58): Show c.1147+10377_1147+10378insATATATATATATATATATATATAT ATATATATATATA	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	9/10			chr20	TogoVar
STRBP_chr9_123116617_123273586	123200734	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	19	0.0526	37	c.-16 others(58): Show c.-164-16437_-164-16436insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding	2/18			chr9	TogoVar
STX17_chr9_99901654_99979534	99971573	T T	TACTATTT others(30): Show TACTATTTTATTAATAAATTAATATAAAGAACAAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0169 a0001c0001t0032g0169	1	292	0.0034	37	c.29 others(48): Show c.2900_*2901insACTATTTTATTAATAAATTAATATAAAGAACAAA AAC	STX17	ENSG00000136874.11	transcript	ENST00000259400.11	protein_coding	8/8	2901		chr9	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0057 a0003c0003t0011g0057	1	213	0.0047	37	c.205 others(54): Show c.205+3503_205+3504insATATATATATATATATATATTTTTTTTT TTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0058 a0003c0003t0003g0058	1	213	0.0047	37	c.205 others(54): Show c.205+3503_205+3504insATATATATATATATATATATATTTTTTT TTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181023049	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	342	0.0029	37	c.-37 others(46): Show c.-377_-376insTATATATATATATATATATATATATATATATATATA T	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		180		chr1	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 HG02647.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0042 a0001c0003t0002g0043 a0001c0003t0001g0042 a0001c0003t0002g0043	2	8	0.2500	37	c.118 others(54): Show c.118-2233_118-2232insAAAAAAAAAAAAAAATATATATATATAT ATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
SUN1_chr7_827476_879934	866712	G G	GCCCCCAC others(30): Show GCCCCCACTGTCTCCCCACCATCTCCATGGGCCTTCGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp2 HG02071.hp2 others(6): Show HG00673.hp2 HG01167.hp2 HG02071.hp2 HG02129.hp1 HG03239.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA19091.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0023 a0002c0005 others(1): Show a0001c0001 a0001c0023 a0002c0005 a0004c0007	a0001c0001t0001 a0001c0023t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0023t0001 a0002c0005t0001 a0004c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0111 a0001c0001t0001g0112 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0149 a0001c0023t0001g0008 a0002c0005t0001g0027 a0004c0007t0001g0145	9	85	0.1059	37	c.198 others(54): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCATGGGCCT TCGCCCCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	866712	G G	GCCCCCAC others(30): Show GCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG01981.hp1 others(21): Show HG00544.hp2 HG00621.hp1 HG01981.hp1 HG02056.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG03041.hp2 HG03209.hp1 HG03927.hp1 NA18522.hp2 NA18612.hp1 NA18950.hp1 NA18955.hp1 NA18960.hp1 NA18972.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19062.hp1 NA19079.hp1 NA19086.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0021 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0004t0002 a0002c0002t0001	a0001c0001t0001g0261 a0001c0001t0021g0121 a0001c0004t0002g0014 others(19): Show a0001c0001t0001g0261 a0001c0001t0021g0121 a0001c0004t0002g0014 a0001c0004t0002g0216 a0001c0004t0002g0220 a0001c0004t0002g0223 a0001c0004t0002g0224 a0001c0004t0002g0226 a0001c0004t0002g0227 a0001c0004t0002g0228 a0001c0004t0002g0231 a0001c0004t0002g0233 a0001c0004t0002g0234 a0001c0004t0002g0237 a0001c0004t0002g0240 a0001c0004t0002g0242 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0245 a0002c0002t0001g0248 a0002c0002t0001g0251 a0002c0002t0001g0268	24	100	0.2400	37	c.198 others(54): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCGTGGGCCT TCGCCCCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02145.hp1 HG02647.hp1 others(4): Show HG01517.hp1 HG02145.hp1 HG02647.hp1 NA18990.hp1 NA19054.hp1 NA19064.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0121 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0121 a0001c0001t0001g0210 a0001c0001t0001g0211 a0002c0002t0001g0057	7	55	0.1273	37	c.212 others(52): Show c.212-242_212-241insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	214	0.0047	37	c.-14 others(48): Show c.-1456_-1455insTATATATATATATATATATTTTTTTTTTTTTTTT TTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(30): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	214	0.0047	37	c.-14 others(48): Show c.-1456_-1455insTATATATATATATATATTTTTTTTTTTTTTTTTT TTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(30): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	214	0.0047	37	c.-14 others(48): Show c.-1456_-1455insTATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT3H_chr6_44821726_45382934	45379329	T T	TTGATCTC others(30): Show TTGATCTCTTTTTTGATTTTCTTTTTTTAGCTCTTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	262	0.0038	37	c.-15 others(48): Show c.-1563_-1562insTTCAAGAGCTAAAAAAAGAAAATCAAAAAAGAGA TCA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding		1396		chr6	TogoVar
SUPT5H_chr19_39440582_39481670	39449076	C C	CGAGACTC others(30): Show CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	275	0.0036	37	c.75+ others(52): Show c.75+3117_75+3118insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AGAGACT	SUPT5H	ENSG00000196235.14	transcript	ENST00000432763.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG00735.hp1 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	2	4	0.5000	37	c.-32 others(54): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SURF2_chr9_133351550_133366158	133365074	G G	GCCTGTCT others(30): Show GCCTGTCTGTGAGACCAGGTGCAGGGAGACCTTGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0001 a0006c0009t0001g0001	1	446	0.0022	37	c.39 others(48): Show c.3935_*3936insCCTGTCTGTGAGACCAGGTGCAGGGAGACCTTGC TGC	SURF2	ENSG00000148291.10	transcript	ENST00000371964.5	protein_coding		3917		chr9	TogoVar
SVEP1_chr9_110360248_110584741	110434666	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0087 a0087	a0087c0129 a0087c0129	a0087c0129t0001 a0087c0129t0001	a0087c0129t0001g0213 a0087c0129t0001g0213	1	36	0.0278	37	c.488 others(54): Show c.4889-161_4889-160insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar
SWAP70_chr11_9659077_9757993	9725569	A A	ATATATAT others(30): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0046 a0001c0002t0011g0046	1	236	0.0042	37	c.642 others(52): Show c.642+685_642+686insATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04228.hp2 HG02280.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0072 a0001c0001t0001g0075	2	121	0.0165	37	c.236 others(52): Show c.236-828_236-827insAAAAAAAAATATATATATATATATATATAT ATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	120	0.0083	37	c.236 others(52): Show c.236-828_236-827insAAAAAAAAAAATATATATATATATATATAT ATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18983.hp1 NA18987.hp1 NA18966.hp2 NA18983.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0218 a0001c0001t0001g0043 a0001c0001t0001g0218	3	122	0.0246	37	c.236 others(52): Show c.236-828_236-827insAAAAAAAAAAAAATATATATATATATATAT ATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYN3_chr22_32502820_33063381	32572243	C C	CTCCTTCC others(30): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG00741.hp2 others(15): Show HG00323.hp2 HG00673.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02976.hp1 HG03239.hp1 HG03688.hp2 HG03927.hp1 NA18957.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0030 a0001c0001t0054 a0001c0001t0059 a0001c0001t0070 a0001c0004t0017 a0002c0002t0004 a0002c0002t0051	a0001c0001t0001g0113 a0001c0001t0001g0162 a0001c0001t0002g0018 others(15): Show a0001c0001t0001g0113 a0001c0001t0001g0162 a0001c0001t0002g0018 a0001c0001t0002g0057 a0001c0001t0003g0016 a0001c0001t0003g0128 a0001c0001t0007g0079 a0001c0001t0008g0047 a0001c0001t0008g0133 a0001c0001t0009g0170 a0001c0001t0015g0043 a0001c0001t0030g0015 a0001c0001t0054g0002 a0001c0001t0059g0078 a0001c0001t0070g0006 a0001c0004t0017g0095 a0002c0002t0004g0159 a0002c0002t0051g0142	18	128	0.1406	37	c.774 others(56): Show c.774+24430_774+24431insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYNGR3_chr16_1984970_1999275	1995769	T T	TCCCCACT others(30): Show TCCCCACTTCTCACTGCTACCTTTTGCAGTTACATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	37	c.26 others(48): Show c.2697_*2698insCCCCACTTCTCACTGCTACCTTTTGCAGTTACAT CCC	SYNGR3	ENSG00000127561.16	transcript	ENST00000248121.7	protein_coding		1495		chr16	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 NA18949.hp2 NA18951.hp1 others(2): Show HG03239.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2	a0003 a0037 a0003 a0037	a0003c0003 a0003c0024 a0037c0054 a0003c0003 a0003c0024 a0037c0054	a0003c0003t0003 a0003c0024t0003 a0037c0054t0003 a0003c0003t0003 a0003c0024t0003 a0037c0054t0003	a0003c0003t0003g0003 a0003c0003t0003g0083 a0003c0003t0003g0195 others(2): Show a0003c0003t0003g0003 a0003c0003t0003g0083 a0003c0003t0003g0195 a0003c0024t0003g0087 a0037c0054t0003g0062	5	63	0.0794	37	c.-64 others(46): Show c.-645_-644insTATATATATATATATATATATATATATTTTTTTTTT T	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01993.hp2 NA18948.hp1 others(1): Show HG01975.hp2 HG01993.hp2 NA18948.hp1 NA19080.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0007 a0003c0003 a0008c0011 a0001c0007 a0003c0003 a0008c0011	a0001c0007t0001 a0003c0003t0003 a0008c0011t0004 a0001c0007t0001 a0003c0003t0003 a0008c0011t0004	a0001c0007t0001g0081 a0003c0003t0003g0095 a0008c0011t0004g0010 others(1): Show a0001c0007t0001g0081 a0003c0003t0003g0095 a0008c0011t0004g0010 a0008c0011t0004g0058	4	62	0.0645	37	c.-64 others(46): Show c.-645_-644insTATATATATATATATATATATATATTTTTTTTTTTT T	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar

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