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
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG03453.hp2 HG02055.hp1 HG02965.hp1 HG03453.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0011 a0002c0003 a0003c0011	a0002c0003t0001 a0003c0011t0002 a0002c0003t0001 a0003c0011t0002	a0002c0003t0001g0282 a0002c0003t0001g0285 a0003c0011t0002g0286 a0002c0003t0001g0282 a0002c0003t0001g0285 a0003c0011t0002g0286	3	192	0.0156	42	c.138 others(59): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATTTTTTTTTTT	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(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0092 a0002c0002t0002g0093	2	191	0.0105	42	c.138 others(59): Show c.1387+451_1387+452insATATATATATATATATATATATATATTT TTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108835887	T T	TTTATAAT others(35): Show TTTATAATATAGTTATAATTGATTATATTAATATGATTAATTA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20805.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0299 a0001c0001t0025g0300 a0001c0001t0025g0299 a0001c0001t0025g0300	2	330	0.0061	42	c.111 others(61): Show c.111-12527_111-12526insTAATTAATCATATTAATATAATCAAT TATAACTATATTATAA	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
ST13_chr22_40819535_40861639	40821760	A A	ATATACGT others(35): Show ATATACGTATATATATATACATATATACGTATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	340	0.0029	42	c.47 others(53): Show c.4777_*4778insCGTATATATATATACGTATATATGTATATATATA TACGTATA	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2774		chr22	TogoVar
ST3GAL1_chr8_133449848_133576887	133540750	T T	TATATATA others(35): Show TATATATAGAGACATATATATATAGACATATATATAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0017 a0004c0007t0017	a0004c0007t0017g0008 a0004c0007t0017g0008	1	239	0.0042	42	c.-42 others(61): Show c.-429+5023_-429+5024insGTCTCTCTATATATATGTCTATATAT ATATGTCTCTATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540924	T T	TATATAGA others(35): Show TATATAGACATATATATAGACATATATATAGACATATATAGAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG02165.hp2 others(14): Show HG00544.hp2 HG00621.hp2 HG02165.hp2 HG03688.hp2 HG03927.hp1 NA18939.hp1 NA18944.hp2 NA18955.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18982.hp2 NA18990.hp1 NA19005.hp1 NA19060.hp1 NA19075.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0004t0003	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0234 others(14): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0234 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0289 a0001c0002t0002g0046 a0001c0002t0002g0085 a0001c0002t0002g0102 a0001c0002t0002g0114 a0001c0002t0002g0254 a0001c0002t0002g0261 a0001c0002t0009g0301 a0001c0004t0003g0023 a0001c0004t0003g0081 a0001c0004t0003g0111	17	311	0.0547	42	c.-42 others(61): Show c.-429+4849_-429+4850insGTCTATATATGTCTATATATATGTCT ATATATATGTCTATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	92	0.0109	42	c.-10 others(65): Show c.-1003-10708_-1003-10707insAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76525803	A A	ATATATAC others(35): Show ATATATACATATATATATATATACATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	102	0.0098	42	c.624 others(63): Show c.624-101643_624-101642insCATATATATATATATACATATATA TATATATATACGTATATA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0195 a0002c0004t0007g0195	1	88	0.0114	42	c.75 others(53): Show c.7568_*7569insTATATATATATATATATATATATATATATATATA TATTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTTTTCT others(35): Show TTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	47	0.0213	42	c.132 others(61): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17374748	A A	AAATAAAT others(35): Show AAATAAATAAATAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0176 a0001c0001t0012g0176	1	289	0.0035	42	c.291 others(61): Show c.291-15149_291-15148insATATATATATATATATATATATATAT ATTTTATTTATTTATT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0045 a0001c0001t0009g0045	1	243	0.0041	42	c.41- others(57): Show c.41-8882_41-8881insGTATATGTATATATATATATATATATATAT ATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19240.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0056 a0001c0001t0009 a0001c0001t0056	a0001c0001t0009g0047 a0001c0001t0056g0049 a0001c0001t0009g0047 a0001c0001t0056g0049	2	244	0.0082	42	c.41- others(57): Show c.41-8882_41-8881insGTATATATATATATATATATATATATATAT ATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18950.hp2 NA18954.hp1 HG02615.hp2 NA18950.hp2 NA18954.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0081 a0001c0001t0001g0167 a0002c0002t0001g0041 a0001c0001t0001g0081 a0001c0001t0001g0167 a0002c0002t0001g0041	3	33	0.0909	42	c.210 others(59): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0029	1	31	0.0323	42	c.210 others(59): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	192	0.0052	42	c.762 others(61): Show c.762+35592_762+35593insAAAAAATATATATATATATATATATA TATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0050 a0003c0003t0002g0050	1	192	0.0052	42	c.762 others(61): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	192	0.0052	42	c.762 others(61): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(35): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	192	0.0052	42	c.762 others(61): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01346.hp2 others(13): Show HG01099.hp2 HG01175.hp1 HG01346.hp2 HG02056.hp2 HG02155.hp1 HG02647.hp1 HG02717.hp2 HG03017.hp2 HG03209.hp2 HG03471.hp1 NA18975.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19074.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0005c0005t0002	a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0056 others(13): Show a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0141 a0001c0001t0002g0060 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0149 a0002c0002t0001g0258 a0002c0002t0001g0284 a0002c0002t0002g0225 a0002c0002t0002g0269 a0002c0002t0002g0306 a0002c0002t0002g0329 a0002c0002t0002g0340 a0005c0005t0002g0348	16	89	0.1798	42	c.762 others(61): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0129	1	131	0.0076	42	c.483 others(59): Show c.483+1630_483+1631insATATATATATATATATATATATATATTT TTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5317339	A A	ATACATAT others(35): Show ATACATATATATAATATATATAATGTATATGTATTATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp2 HG02486.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0006 a0002c0004t0002 a0001c0001t0006 a0002c0004t0002	a0001c0001t0006g0047 a0002c0004t0002g0034 a0001c0001t0006g0047 a0002c0004t0002g0034	2	156	0.0128	42	c.261 others(61): Show c.261-13839_261-13798dupTTACATATATATAATATATATAATGT ATATGTATTATATATA	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32C_chr10_132202492_132312950	132279707	C C	CGACACTC others(35): Show CGACACTCCACTCCGTGATCACGACACTCCACTCCGTGATCAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01069.hp1 others(9): Show HG00733.hp2 HG00741.hp2 HG01069.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0005t0003 a0002c0004t0003	a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 others(9): Show a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0341 a0001c0001t0002g0014 a0001c0001t0002g0285 a0001c0002t0002g0339 a0001c0002t0003g0048 a0001c0002t0003g0340 a0001c0005t0003g0088 a0002c0004t0003g0057	12	262	0.0458	42	c.262 others(61): Show c.262+27864_262+27865insATGATCACGGAGTGGAGTGTCGTGAT CACGGAGTGGAGTGTC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132280651	A A	ATGATCAC others(35): Show ATGATCACCACACTCCACTCCGTGATCACCACACTCCACTCCG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03654.hp2 others(6): Show HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0003c0006t0005	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0112 others(6): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0112 a0001c0001t0004g0102 a0001c0002t0002g0101 a0001c0002t0003g0097 a0001c0003t0001g0113 a0003c0006t0005g0359 a0003c0006t0005g0362	9	322	0.0280	42	c.262 others(61): Show c.262+26920_262+26921insCGGAGTGGAGTGTGGTGATCACGGAG TGGAGTGTGGTGATCA	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132285108	G G	GTCTGCCC others(35): Show GTCTGCCCAAAGACCAGGCATGAACCCGGAACACATTCCCACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	238	0.0042	42	c.262 others(61): Show c.262+22463_262+22464insTGTGGGAATGTGTTCCGGGTTCATGC CTGGTCTTTGGGCAGA	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19080.hp2 NA19082.hp1 HG02071.hp1 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0027 a0001c0002t0001 a0001c0002t0027	a0001c0002t0001g0199 a0001c0002t0001g0276 a0001c0002t0027g0202 a0001c0002t0001g0199 a0001c0002t0001g0276 a0001c0002t0027g0202	3	129	0.0233	42	c.947 others(57): Show c.947+808_947+809insTATATATATATATATATATATATATATATA TATATATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STK40_chr1_36334628_36390924	36345991	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0084 a0001c0005t0005g0084	1	110	0.0091	42	c.740 others(59): Show c.740-1728_740-1727insAAAATATATATATATATATATATATATA TATATATATATATA	STK40	ENSG00000196182.11	transcript	ENST00000373132.4	protein_coding	7/10			chr1	TogoVar
STK4_chr20_44961512_45085021	45079922	T T	TTTTTTTA others(35): Show TTTTTTTAAGAATTGTTCCTTTGTCTCTCCTTACCCTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0265 a0001c0001t0028g0265	1	326	0.0031	42	c.47 others(53): Show c.4746_*4747insTTTTTTAAGAATTGTTCCTTTGTCTCTCCTTACC CTTCTTTC	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	11/11	4747		chr20	TogoVar
STMN2_chr8_79606117_79671158	79670015	G G	GTGCCCTG others(35): Show GTGCCCTGACCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	400	0.0025	42	c.51 others(53): Show c.5141_*5142insTGCCCTGACCTTTCCTTTTTTTTTTTTTTTTTTT TTTTTTGA	STMN2	ENSG00000104435.14	transcript	ENST00000220876.12	protein_coding		3858		chr8	TogoVar
STOML3_chr13_38960925_38995831	38961191	C C	CTGAGATG others(35): Show CTGAGATGTGTTCCACACAACTTCTCAGAGCATCCTCAGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	42	c.56 others(53): Show c.5633_*5634insCCCACTGAGGATGCTCTGAGAAGTTGTGTGGAAC ACATCTCA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding		4733		chr13	TogoVar
STOML3_chr13_38960925_38995831	38988264	A A	ATATATTT others(35): Show ATATATTTTATATCATATATATTATATTTTATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	393	0.0025	42	c.52+ others(57): Show c.52+2405_52+2406insATATATTTTATATAAAATATAATATATATG ATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988473	A A	AATATATT others(35): Show AATATATTTTATATCATATATTTTATATCATATATTTTATATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0247 a0001c0001t0007g0247	1	393	0.0025	42	c.52+ others(57): Show c.52+2196_52+2197insGATATAAAATATATGATATAAAATATATGA TATAAAATATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOX2_chr4_183900307_184028526	183932303	G G	GTGTATAC others(35): Show GTGTATACATACAGTATATGTATGTATACATACAGTATATGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp1 NA18979.hp1 others(4): Show HG02258.hp1 HG03516.hp1 NA18979.hp1 NA18979.hp2 NA19012.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0085 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0085 a0001c0002t0002 a0001c0002t0051 a0001c0005t0091 a0002c0013t0071	a0001c0001t0001g0285 a0001c0001t0004g0093 a0001c0001t0085g0246 others(4): Show a0001c0001t0001g0285 a0001c0001t0004g0093 a0001c0001t0085g0246 a0001c0002t0002g0059 a0001c0002t0051g0220 a0001c0005t0091g0264 a0002c0013t0071g0260	7	250	0.0280	42	c.166 others(61): Show c.166+25500_166+25541dupACATACAGTATATGTATGTATACATA CAGTATATGTATGTAT	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
STOX2_chr4_183900307_184028526	183932320	A A	ATGTATGT others(35): Show ATGTATGTATACATACAGTATATGTATGTATACATACATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0238 a0001c0002t0014g0238	1	316	0.0032	42	c.166 others(61): Show c.166+25401_166+25402insTATACTGTATGTATACATACAGTATA TGTATGTATACATACA	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
STPG4_chr2_47081991_47160308	47085030	C C	CACACACA others(35): Show CACACACACACACACACACAGAGTGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0312 a0002c0002t0001g0312	1	319	0.0031	42	c.19 others(53): Show c.1977_*1978insCTCTCTCTCTCTCTCTCTCACTCTGTGTGTGTGT GTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		1960		chr2	TogoVar
STRIT1_chr3_155285227_155298683	155298034	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA19010.hp1 NA18964.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	2	442	0.0045	42	c.-44 others(53): Show c.-4403_-4402insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4352		chr3	TogoVar
STX6_chr1_180967725_181027870	181023023	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	339	0.0029	42	c.-35 others(51): Show c.-351_-350insATATATATATATATATATATATATATATATATATAT ATATAT	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		154		chr1	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATAT others(35): Show ATATATATATATATATATATCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	278	0.0036	42	c.-35 others(51): Show c.-356_-355insGAGAGAGAGAGAGAGAGAGAGAGATATATATATATA TATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATAT others(35): Show ATATATATATATCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0291 a0001c0002t0002g0291	1	278	0.0036	42	c.-35 others(51): Show c.-356_-355insGAGAGAGGAGAGAGAGGAGAGAGAGAGAGAGATATA TATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATAT others(35): Show ATATATATATCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0289 a0001c0002t0002g0289	1	278	0.0036	42	c.-35 others(51): Show c.-356_-355insGAGAGAGAGGAGAGAGAGGAGAGAGAGAGAGAGATA TATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STX6_chr1_180967725_181027870	181023041	T T	TCTCTCCT others(35): Show TCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	339	0.0029	42	c.-36 others(51): Show c.-369_-368insGGAGAGAGAGGAGAGAGAGGAGAGAGAGGAGAGAGA GGAGAG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		172		chr1	TogoVar
STX7_chr6_132440867_132518116	132515171	C C	CACCTTCC others(35): Show CACCTTCCATGTCTCTCTACAGTCTACTTGTTTTCTGTTTAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	378	0.0026	42	c.-22 others(53): Show c.-2224_-2223insCTTAAACAGAAAACAAGTAGACTGTAGAGAGACA TGGAAGGT	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding		2056		chr6	TogoVar
STXBP5L_chr3_120903205_121429761	121190707	G G	GGCTGGCC others(35): Show GGCTGGCCAGGCGGGGGCTGCCCCCCACCTCCCGGATGGGGCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02280.hp1 others(3): Show HG01109.hp1 HG02109.hp2 HG02280.hp1 HG02615.hp2 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0028 a0001c0001t0008g0027 a0001c0001t0008g0029 others(3): Show a0001c0001t0002g0028 a0001c0001t0008g0027 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0032	6	122	0.0492	42	c.878 others(61): Show c.878-15209_878-15208insAGGCGGGGGCTGCCCCCCACCTCCCG GATGGGGCAGCTGGCC	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121190707	G G	GGCTGGCC others(35): Show GGCTGGCCGGGCGGGGGCTGCCCCACACCTCCCGGATGGGGCA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0262 a0001c0001t0007g0262	1	117	0.0085	42	c.878 others(61): Show c.878-15193_878-15192insACACCTCCCGGATGGGGCAGCTGGCC GGGCGGGGGCTGCCCC	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121190707	G G	GGCTGGCC others(35): Show GGCTGGCCGGGCGGGGGCTGCCCCCCACCTCCCGGATGGGGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19078.hp2 NA19084.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0001 a0001c0005 a0001c0006 others(8): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0010 a0006c0012 a0007c0007 a0009c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0005t0003 a0001c0006t0003 a0001c0008t0005 a0002c0002t0020 a0003c0003t0001 a0003c0003t0005 a0003c0003t0013 a0003c0003t0028 a0004c0004t0005 a0005c0010t0006 a0006c0012t0003 a0007c0007t0005 a0009c0011t0001	a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 others(161): Show a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0216 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0004g0137 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0005g0195 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0290 a0001c0001t0006g0211 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0243 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0283 a0001c0001t0012g0126 a0001c0001t0012g0127 a0001c0001t0012g0128 a0001c0001t0015g0215 a0001c0001t0015g0217 a0001c0001t0015g0218 a0001c0001t0017g0284 a0001c0001t0017g0285 a0001c0001t0021g0209 a0001c0001t0022g0035 a0001c0001t0025g0231 a0001c0001t0026g0265 a0001c0001t0027g0276 a0001c0001t0029g0170 a0001c0001t0030g0254 a0001c0001t0031g0286 a0001c0001t0032g0191 a0001c0005t0003g0151 a0001c0005t0003g0152 a0001c0006t0003g0129 a0001c0006t0003g0183 a0001c0008t0005g0268 a0002c0002t0020g0158 a0003c0003t0001g0168 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0198 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0005g0199 a0003c0003t0013g0155 a0003c0003t0013g0166 a0003c0003t0013g0167 a0003c0003t0028g0203 a0004c0004t0005g0270 a0004c0004t0005g0273 a0004c0004t0005g0274 a0004c0004t0005g0275 a0005c0010t0006g0236 a0006c0012t0003g0150 a0007c0007t0005g0269 a0009c0011t0001g0214	164	280	0.5857	42	c.878 others(61): Show c.878-15211_878-15170dupGCCGGGCGGGGGCTGCCCCCCACCTC CCGGATGGGGCAGCTG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121190714	C C	TGGGCGGG others(35): Show TGGGCGGGGGCTGCCCCCCACCTCCCGGATGGGGCAGCTGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01070.hp2 others(3): Show HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01192.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0011 a0001c0001t0016	a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0023 others(3): Show a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0023 a0001c0001t0011g0024 a0001c0001t0016g0019 a0001c0001t0016g0020	6	288	0.0208	42	c.878 others(61): Show c.878-15210_878-15209insTGGGCGGGGGCTGCCCCCCACCTCCC GGATGGGGCAGCTGGC	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26			chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121190715	G G	GGGCGGGG others(35): Show GGGCGGGGGCTGCCCCCCACCTCCCGGATGGGGCAGCTGGCCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG01109.hp2 others(32): Show HG00438.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01496.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02922.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 NA18944.hp2 NA18955.hp1 NA18957.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA19000.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0024	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(32): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0010g0064 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0024g0052	35	288	0.1215	42	c.878 others(61): Show c.878-15170_878-15169insGCCAGGCGGGGGCTGCCCCCCACCTC CCGGATGGGGCAGCTG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STYXL2_chr1_167089075_167134165	167105102	C C	CTCCCTTT others(35): Show CTCCCTTTCTTCCTCTTTGCCTTCCTTCCCTCCCTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG02257.hp2 others(22): Show HG01243.hp1 HG01433.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0008 a0016 a0017	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0007c0013 a0008c0010 a0016c0028 a0017c0018	a0001c0001t0001 a0002c0002t0003 a0003c0003t0002 others(6): Show a0001c0001t0001 a0002c0002t0003 a0003c0003t0002 a0006c0006t0005 a0007c0013t0005 a0008c0010t0003 a0008c0010t0004 a0016c0028t0003 a0017c0018t0001	a0001c0001t0001g0010 a0001c0001t0001g0069 a0001c0001t0001g0073 others(16): Show a0001c0001t0001g0010 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0122 a0001c0001t0001g0132 a0002c0002t0003g0072 a0003c0003t0002g0068 a0003c0003t0002g0121 a0003c0003t0002g0141 a0006c0006t0005g0003 a0006c0006t0005g0012 a0007c0013t0005g0067 a0007c0013t0005g0070 a0008c0010t0003g0003 a0008c0010t0004g0056 a0016c0028t0003g0071 a0017c0018t0001g0010	25	360	0.0694	42	c.111 others(59): Show c.111-8604_111-8563dupCTTTCTTCCTCTTTGCCTTCCTTCCCTC CCTCCCTTCCTTCC	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUB1_chr5_32580557_32609079	32596580	A A	AGAGATTT others(35): Show AGAGATTTAGAGTCTTCCCCACCCCAAATGCAGATAGCCTGTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	444	0.0023	42	c.196 others(59): Show c.196-2379_196-2338dupAGATTTAGAGTCTTCCCCACCCCAAATG CAGATAGCCTGTTG	SUB1	ENSG00000113387.12	transcript	ENST00000265073.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SUB1_chr5_32580557_32609079	32598252	T T	TGGAGGGA others(35): Show TGGAGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGAAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	444	0.0023	42	c.196 others(57): Show c.196-709_196-708insGGAGGGAGGGGGGGGGGGGGGGGGGGGGGG GGGAGGGGGAAG	SUB1	ENSG00000113387.12	transcript	ENST00000265073.9	protein_coding	3/4			chr5	TogoVar

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