Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GSK3B_chr3_119816321_120099447	119954287	TAGAATAG others(13): Show TAGAATAGAATAGAATAGAAA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02486.hp1 HG02717.hp2 others(1): Show HG01993.hp1 HG02486.hp1 HG02717.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0003g0035 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0003g0035 a0001c0001t0003g0050	4	300	0.0133	-20	c.283 others(37): Show c.283-6956_283-6937delTTTCTATTCTATTCTATTCT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	2/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	119954295	AATAGAAT others(13): Show AATAGAATAGAAAAGAAACAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01943.hp1 HG02698.hp1 others(2): Show HG01106.hp2 HG01943.hp1 HG02698.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0038 a0001c0003t0008 a0001c0001t0009 a0001c0001t0038 a0001c0003t0008	a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0016 others(2): Show a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0016 a0001c0001t0038g0015 a0001c0003t0008g0013	5	300	0.0167	-20	c.283 others(37): Show c.283-6964_283-6945delCTGTTTCTTTTCTATTCTAT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	2/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	119963879	AAAGATTT others(13): Show AAAGATTTAAACATAAGATCT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	300	0.0033	-20	c.283 others(39): Show c.283-16548_283-16529delAGATCTTATGTTTAAATCTT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	2/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	119967828	TTCTCTTT others(13): Show TTCTCTTTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0082 a0001c0001t0015g0082	1	300	0.0033	-20	c.283 others(39): Show c.283-20497_283-20478delGAGAGAGAGAGAGAAAGAGA	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	2/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	120079305	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0082 a0001c0001t0015g0082	1	300	0.0033	-20	c.88+ others(37): Show c.88+14022_88+14041delGTGTGTGTGTGTGTGTGTGT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	1/10			chr3	TogoVar
GSN_chr9_121263162_121337842	121334772	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03098.hp1 HG02717.hp2 HG03098.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0040 a0008c0011t0001g0040	2	322	0.0062	-20	c.21 others(31): Show c.2170_*2189delTGTGTGTGTGTGTGTGTGTG	GSN	ENSG00000148180.22	transcript	ENST00000432226.7	protein_coding		1931		chr9	TogoVar
GSPT1_chr16_11863128_11920956	11880776	CTTGTAGG others(13): Show CTTGTAGGAGTTCTTCATATA	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0028 a0011c0021t0028	a0011c0021t0028g0012 a0011c0021t0028g0012	1	372	0.0027	-20	c.142 others(39): Show c.1428+2219_1428+2238delTATATGAAGAACTCCTACAA	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	11/14			chr16	TogoVar
GSR_chr8_30673066_30732846	30684928	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG02615.hp2 others(6): Show HG00099.hp2 HG00738.hp2 HG02615.hp2 HG02809.hp1 HG02886.hp2 HG03139.hp2 NA18954.hp2 NA18973.hp2 NA19002.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0005	a0001c0001t0004 a0001c0001t0013 a0001c0001t0022 others(3): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0022 a0001c0003t0042 a0001c0004t0045 a0004c0005t0010	a0001c0001t0004g0170 a0001c0001t0013g0245 a0001c0001t0013g0273 others(6): Show a0001c0001t0004g0170 a0001c0001t0013g0245 a0001c0001t0013g0273 a0001c0001t0013g0274 a0001c0001t0022g0205 a0001c0001t0022g0211 a0001c0003t0042g0007 a0001c0004t0045g0330 a0004c0005t0010g0005	9	348	0.0259	-20	c.104 others(37): Show c.1042-749_1042-730delAAATAAATAAATAAATAAAT	GSR	ENSG00000104687.14	transcript	ENST00000221130.11	protein_coding	9/12			chr8	TogoVar
GSR_chr8_30673066_30732846	30710714	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00733.hp2 others(65): Show HG00099.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG01993.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18991.hp2 NA19002.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0024 a0001c0001t0026 a0001c0001t0039 a0001c0004t0005 a0001c0004t0006 a0001c0004t0012 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0011 a0002c0002t0019 a0002c0002t0020 a0002c0002t0023	a0001c0001t0001g0252 a0001c0001t0001g0301 a0001c0001t0002g0261 others(64): Show a0001c0001t0001g0252 a0001c0001t0001g0301 a0001c0001t0002g0261 a0001c0001t0003g0002 a0001c0001t0003g0210 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0315 a0001c0001t0006g0090 a0001c0001t0006g0230 a0001c0001t0006g0255 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0269 a0001c0001t0006g0277 a0001c0001t0007g0209 a0001c0001t0011g0206 a0001c0001t0011g0276 a0001c0001t0013g0234 a0001c0001t0013g0245 a0001c0001t0013g0273 a0001c0001t0013g0274 a0001c0001t0016g0262 a0001c0001t0024g0212 a0001c0001t0024g0213 a0001c0001t0026g0243 a0001c0001t0039g0231 a0001c0004t0005g0328 a0001c0004t0006g0332 a0001c0004t0012g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0331 a0002c0002t0001g0333 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0340 a0002c0002t0003g0334 a0002c0002t0004g0320 a0002c0002t0009g0329 a0002c0002t0011g0341 a0002c0002t0019g0321 a0002c0002t0020g0322 a0002c0002t0023g0338	68	348	0.1954	-20	c.334 others(35): Show c.334-832_334-813delTTTTTTTTTTTTTTTTTTTT	GSR	ENSG00000104687.14	transcript	ENST00000221130.11	protein_coding	2/12			chr8	TogoVar
GSR_chr8_30673066_30732846	30728460	TTATTTTT others(13): Show TTATTTTTTTTATTATTTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02809.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0045 a0002c0002t0001 a0001c0004t0045 a0002c0002t0001	a0001c0004t0045g0330 a0002c0002t0001g0337 a0001c0004t0045g0330 a0002c0002t0001g0337	2	348	0.0058	-20	c.-64 others(29): Show c.-645_-626delTAAAAATAATAAAAAAAATA	GSR	ENSG00000104687.14	transcript	ENST00000221130.11	protein_coding		615		chr8	TogoVar
GSTA1_chr6_52786371_52808816	52796455	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02040.hp2 HG02071.hp2 others(28): Show HG01243.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03688.hp1 HG03834.hp1 NA18941.hp2 NA18968.hp1 NA18970.hp2 NA18975.hp1 NA18981.hp2 NA18985.hp2 NA18993.hp2 NA19001.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19067.hp2 NA19077.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0097 a0001c0001t0002g0085 a0001c0001t0002g0086 others(18): Show a0001c0001t0001g0097 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0078 a0001c0002t0002g0007 a0001c0002t0002g0032 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0181 a0001c0002t0002g0182	31	436	0.0711	-20	c.140 others(35): Show c.140-161_140-142delTATATATATATATATATATA	GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding	3/6			chr6	TogoVar
GSTA1_chr6_52786371_52808816	52807380	CACAATAA others(13): Show CACAATAATAATAATAATAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	436	0.0023	-20	c.-36 others(31): Show c.-3646_-3627delATTATTATTATTATTATTGT	GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding		3565		chr6	TogoVar
GSTA2_chr6_52745087_52768475	52759563	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0134 a0003c0003t0001g0134	1	440	0.0023	-20	c.-30 others(37): Show c.-30-1606_-30-1587delAAAAAAAAAAAAAAAAAAAA	GSTA2	ENSG00000244067.3	transcript	ENST00000493422.3	protein_coding	1/6			chr6	TogoVar
GSTCD_chr4_105703784_105852725	105755056	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0131 a0001c0001t0004g0131	1	186	0.0054	-20	c.124 others(41): Show c.1240+25581_1240+25600delAAAAAAAAAAAAAAAAAAAA	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTCD_chr4_105703784_105852725	105794823	TTATCTAT others(13): Show TTATCTATCTATCTATTTATC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp2 others(23): Show HG00408.hp2 HG00438.hp2 HG00597.hp2 HG01069.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01884.hp2 HG02258.hp2 HG02622.hp2 HG02723.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp1 NA18942.hp1 NA18962.hp2 NA18972.hp2 NA19003.hp2 NA19072.hp2 NA19086.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0003c0004t0002	a0001c0001t0002g0064 a0001c0001t0003g0002 a0001c0001t0003g0094 others(22): Show a0001c0001t0002g0064 a0001c0001t0003g0002 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0140 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0086 a0001c0002t0002g0100 a0001c0002t0002g0137 a0003c0004t0002g0085	26	186	0.1398	-20	c.124 others(41): Show c.1241-28115_1241-28096delTTATCTATCTATCTATCTAT	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTM4_chr1_109651099_109666700	109652980	ATTATTTA others(13): Show ATTATTTATTTATTTATTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(158): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0002c0006 a0003c0004 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0009t0001 a0002c0003t0007 a0002c0006t0007 a0003c0004t0001 a0004c0008t0001 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0040 a0001c0001t0003g0002 a0001c0001t0008g0029 a0001c0001t0010g0027 a0001c0001t0017g0020 a0001c0002t0001g0004 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0003g0008 a0001c0002t0003g0028 a0001c0002t0003g0059 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0005g0017 a0001c0002t0005g0057 a0001c0002t0005g0070 a0001c0002t0006g0097 a0001c0009t0001g0014 a0002c0003t0007g0034 a0002c0006t0007g0033 a0003c0004t0001g0048 a0004c0008t0001g0022 a0005c0007t0001g0080	161	364	0.4423	-20	c.-34 others(31): Show c.-3409_-3390delTTATTTATTTATTTATTTAT	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		3118		chr1	TogoVar
GSTM4_chr1_109651099_109666700	109654081	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 NA19087.hp2 HG02559.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0071 a0001c0001t0002g0005 a0001c0001t0002g0071	2	364	0.0055	-20	c.-23 others(31): Show c.-2308_-2289delAAGAAAGAAAGAAAAGAAAG	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		2017		chr1	TogoVar
GSTM4_chr1_109651099_109666700	109654130	AAAGAAAG others(13): Show AAAGAAAGAAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	364	0.0028	-20	c.-22 others(31): Show c.-2259_-2240delAAGAAAGAAAAGAAAGAAAG	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		1968		chr1	TogoVar
GSTO2_chr10_104264184_104309950	104272587	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01358.hp1 HG01884.hp2 others(25): Show HG00408.hp2 HG01358.hp1 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 others(10): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0002t0013 a0001c0002t0022 a0001c0002t0024 a0001c0002t0030 a0001c0002t0036 a0001c0002t0037 a0001c0002t0039 a0001c0002t0041 a0001c0003t0003 a0001c0003t0009	a0001c0002t0001g0016 a0001c0002t0001g0036 a0001c0002t0001g0039 others(22): Show a0001c0002t0001g0016 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0049 a0001c0002t0004g0012 a0001c0002t0004g0015 a0001c0002t0004g0033 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0011g0038 a0001c0002t0013g0013 a0001c0002t0013g0041 a0001c0002t0022g0015 a0001c0002t0024g0042 a0001c0002t0030g0035 a0001c0002t0036g0037 a0001c0002t0037g0051 a0001c0002t0039g0014 a0001c0002t0041g0014 a0001c0003t0003g0077 a0001c0003t0009g0050	28	300	0.0933	-20	c.-23 others(39): Show c.-231-2073_-231-2054delTTTTTTTTTTTTTTTTTTTT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GSTO2_chr10_104264184_104309950	104306054	TGCGCGCG others(13): Show TGCGCGCGCGCGCGCGCGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG02647.hp2 others(7): Show HG02145.hp2 HG02630.hp2 HG02647.hp2 HG02922.hp1 HG03471.hp2 HG03516.hp2 NA18985.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0005 a0001c0002 a0001c0003 a0002c0005	a0001c0002t0013 a0001c0002t0019 a0001c0002t0035 others(4): Show a0001c0002t0013 a0001c0002t0019 a0001c0002t0035 a0001c0003t0003 a0001c0003t0009 a0001c0003t0048 a0002c0005t0008	a0001c0002t0013g0041 a0001c0002t0019g0052 a0001c0002t0019g0078 others(7): Show a0001c0002t0013g0041 a0001c0002t0019g0052 a0001c0002t0019g0078 a0001c0002t0035g0221 a0001c0003t0003g0059 a0001c0003t0003g0061 a0001c0003t0003g0070 a0001c0003t0009g0080 a0001c0003t0048g0116 a0002c0005t0008g0148	10	300	0.0333	-20	c.67 others(31): Show c.6771_*6790delGCGCGCGCGCGCGCGCGTGC	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding		1105		chr10	TogoVar
GSX2_chr4_54095163_54107498	54107324	TGCTTTGA others(13): Show TGCTTTGATGACTTTGTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	372	0.0027	-20	c.54 others(31): Show c.5403_*5422delGCTTTGATGACTTTGTATTA	GSX2	ENSG00000180613.11	transcript	ENST00000326902.7	protein_coding		4827		chr4	TogoVar
GSX2_chr4_54095163_54107498	54107417	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	-20	c.54 others(31): Show c.5496_*5515delAGAGAGAGAGAGAGAGAGAG	GSX2	ENSG00000180613.11	transcript	ENST00000326902.7	protein_coding		4920		chr4	TogoVar
GTDC1_chr2_143933068_144337512	144011448	TTCAGCTT others(13): Show TTCAGCTTTTCTAAATGTAGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0080 a0001c0001t0020g0080	1	124	0.0081	-20	c.522 others(37): Show c.522-3933_522-3914delGCTACATTTAGAAAAGCTGA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144133237	TTATATAT others(13): Show TTATATATAAATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show HG00735.hp2 HG02055.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02922.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0001c0001t0008 a0006c0013t0045 a0001c0001t0001 a0001c0001t0008 a0006c0013t0045	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(7): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0008g0040 a0001c0001t0008g0056 a0001c0001t0008g0057 a0001c0001t0008g0104 a0006c0013t0045g0101	10	124	0.0807	-20	c.521 others(37): Show c.521+8625_521+8644delTTTATATATATTTATATATA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144182788	TATATATA others(13): Show TATATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0068 a0002c0002t0030g0068	1	124	0.0081	-20	c.179 others(39): Show c.179+25795_179+25814delTATATATATAATATATATAT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	4/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144231843	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	124	0.0081	-20	c.-89 others(37): Show c.-89+3813_-89+3832delACACACACACACACACACAC	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	2/11			chr2	TogoVar
GTF2A1_chr14_81170452_81225959	81207139	GTACCTAC others(13): Show GTACCTACCTACCTACCTACC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02451.hp1 HG03041.hp2 others(2): Show HG01123.hp2 HG02451.hp1 HG03041.hp2 HG03209.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0006g0020 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0006g0020 a0001c0001t0009g0180	5	350	0.0143	-20	c.133 others(37): Show c.133-3055_133-3036delGGTAGGTAGGTAGGTAGGTA	GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	2/8			chr14	TogoVar
GTF2E2_chr8_30573318_30663236	30659582	GTATATAG others(13): Show GTATATAGATAGATAGATAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	378	0.0027	-20	c.-16 others(31): Show c.-1634_-1615delTCTATCTATCTATCTATATA	GTF2E2	ENSG00000197265.9	transcript	ENST00000355904.9	protein_coding		1347		chr8	TogoVar
GTF2F2_chr13_45115510_45289893	45250341	CAGCCTGC others(13): Show CAGCCTGCCTTATTTCTTATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	210	0.0048	-20	c.387 others(37): Show c.387-2526_387-2507delCTGCCTTATTTCTTATAAGC	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2I_chr7_74652718_74765692	74726899	AATAGATA others(13): Show AATAGATAGATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	174	0.0058	-20	c.944 others(37): Show c.944-1861_944-1842delTAGATAGATAGATAGATAGA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF3C2_chr2_27320854_27361764	27346330	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01175.hp2 HG01891.hp1 others(10): Show HG01071.hp1 HG01175.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0011t0001	a0001c0001t0001g0050 a0001c0001t0001g0140 a0001c0002t0001g0028 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0140 a0001c0002t0001g0028 a0001c0003t0001g0025 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0227 a0001c0003t0001g0229 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0007t0001g0027 a0001c0011t0001g0228	13	286	0.0455	-20	c.-24 others(37): Show c.-24-2772_-24-2753delAAAAAAAAAAAAAAAAAAAA	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding	1/18			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196758495	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	252	0.0040	-20	c.60 others(31): Show c.6048_*6067delTTTTTTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding		4539		chr2	TogoVar
GTPBP6_chrX_299759_323796	323547	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG06807.hp1 HG03579.hp2 HG06807.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0143 a0006c0011t0003g0144 a0006c0011t0003g0143 a0006c0011t0003g0144	2	155	0.0129	-20	c.-47 others(31): Show c.-4780_-4761delACACACACACACACACACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4752		chrX	TogoVar
GTPBP6_chrX_299759_323796	323680	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	155	0.0065	-20	c.-49 others(31): Show c.-4913_-4894delCACACACACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4885		chrX	TogoVar
GUCA1ANB_chr6_42150406_42168418	42162087	ATTCTTTT others(13): Show ATTCTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00733.hp2 others(28): Show HG00323.hp1 HG00642.hp2 HG00733.hp2 HG01255.hp1 HG01361.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18963.hp1 NA19043.hp2 NA19067.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0052 others(25): Show a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0222 a0002c0002t0001g0013 a0004c0004t0001g0013	31	450	0.0689	-20	c.10- others(33): Show c.10-830_10-811delCTTTTTTTTTTTTTTTTTTT	GUCA1ANB	ENSG00000287363.4	transcript	ENST00000623004.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
GUCA1C_chr3_108902792_108958879	108922154	TACACAAA others(13): Show TACACAAACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(95): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG06807.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18988.hp2 NA18989.hp1 NA19003.hp2 NA19010.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19072.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0010	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0007c0008 a0010c0011	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0007c0008t0001 a0010c0011t0001	a0001c0001t0001g0052 a0002c0002t0001g0002 a0002c0002t0001g0003 others(93): Show a0001c0001t0001g0052 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0232 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0002c0004t0001g0360 a0002c0004t0001g0361 a0002c0004t0001g0363 a0002c0004t0001g0364 a0002c0004t0001g0365 a0003c0003t0001g0012 a0003c0003t0001g0031 a0004c0005t0001g0033 a0004c0005t0001g0261 a0004c0005t0001g0263 a0004c0005t0001g0264 a0007c0008t0001g0270 a0007c0008t0001g0273 a0010c0011t0001g0290	98	374	0.2620	-20	c.205 others(37): Show c.205-1589_205-1570delGTGTGTGTGTGTGTTTGTGT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3			chr3	TogoVar
GUCY1A1_chr4_155661848_155742059	155723627	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0100 a0001c0001t0034g0100	1	330	0.0030	-20	c.187 others(39): Show c.1871+1462_1871+1481delTTATTTATTTATTTATTTAT	GUCY1A1	ENSG00000164116.17	transcript	ENST00000506455.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GUCY1A2_chr11_106669019_107023476	106707106	AACTGTAA others(13): Show AACTGTAAAATCAAGGTATCC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0029 a0001c0001t0044g0029	1	256	0.0039	-20	c.199 others(39): Show c.1991+1386_1991+1405delGGATACCTTGATTTTACAGT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106774539	AATTACTG others(13): Show AATTACTGTGTCTGGGTGCTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG03453.hp2 others(1): Show HG02109.hp2 HG02809.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015	a0001c0001t0003g0058 a0001c0001t0006g0045 a0001c0001t0015g0104 others(1): Show a0001c0001t0003g0058 a0001c0001t0006g0045 a0001c0001t0015g0104 a0001c0001t0015g0107	4	256	0.0156	-20	c.183 others(39): Show c.1836+1880_1836+1899delCAGCACCCAGACACAGTAAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106922662	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01261.hp1 others(1): Show HG01106.hp2 HG01109.hp1 HG01261.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0045	a0001c0001t0001g0059 a0001c0001t0004g0120 a0001c0001t0011g0131 others(1): Show a0001c0001t0001g0059 a0001c0001t0004g0120 a0001c0001t0011g0131 a0001c0001t0045g0106	4	256	0.0156	-20	c.120 others(41): Show c.1206+16778_1206+16797delATATATATATATATATATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY2C_chr12_14607632_14701599	14630027	GGAGGTAT others(13): Show GGAGGTATGGAGGAAGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02258.hp2 others(3): Show HG01884.hp1 HG01891.hp2 HG02258.hp2 HG02486.hp2 HG02630.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0002 a0001c0007t0001 a0001c0005t0002 a0001c0007t0001	a0001c0005t0002g0131 a0001c0005t0002g0132 a0001c0005t0002g0133 others(3): Show a0001c0005t0002g0131 a0001c0005t0002g0132 a0001c0005t0002g0133 a0001c0005t0002g0179 a0001c0007t0001g0214 a0001c0007t0001g0219	6	236	0.0254	-20	c.215 others(39): Show c.2158-1310_2158-1291delTACCTCTTCCTCCATACCTC	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding	19/26			chr12	TogoVar
GUCY2F_chrX_109367906_109487086	109481088	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0167 a0006c0005t0001g0167	1	217	0.0046	-20	c.-86 others(35): Show c.-86+758_-86+777delCCCTTCCTTCCTTCCTTCCT	GUCY2F	ENSG00000101890.5	transcript	ENST00000218006.3	protein_coding	1/19			chrX	TogoVar
GULP1_chr2_188286874_188600926	188323648	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG00741.hp1 others(19): Show HG00639.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01169.hp2 HG01433.hp1 HG01884.hp1 HG02258.hp1 HG02559.hp2 HG02647.hp2 HG02809.hp1 HG02965.hp2 HG03225.hp1 HG03710.hp2 HG04199.hp2 NA18940.hp2 NA18944.hp1 NA18975.hp1 NA18983.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 others(4): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0030 a0001c0001t0032	a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 others(19): Show a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0009g0025 a0001c0001t0009g0031 a0001c0001t0010g0001 a0001c0001t0010g0022 a0001c0001t0010g0024 a0001c0001t0011g0001 a0001c0001t0013g0016 a0001c0001t0013g0017 a0001c0001t0013g0018 a0001c0001t0030g0006 a0001c0001t0032g0015	22	162	0.1358	-20	c.-17 others(41): Show c.-172+31484_-172+31503delATGTGTGTGTGTGTGTGTGT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GXYLT1_chr12_42076845_42149874	42148438	CCCCCCAA others(13): Show CCCCCCAAAAAAAGCAAACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0079 a0001c0002t0004g0079	1	398	0.0025	-20	c.-38 others(31): Show c.-3812_-3793delCTGTTTGCTTTTTTTGGGGG	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding		3565		chr12	TogoVar
GYG2_chrX_2823930_2887818	2845029	TTATATAC others(13): Show TTATATACACATGTGTATGTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02622.hp2 HG02970.hp1 HG00639.hp1 HG02622.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0002c0002t0006 a0001c0001t0001 a0002c0002t0005 a0002c0002t0006	a0001c0001t0001g0293 a0002c0002t0005g0050 a0002c0002t0006g0051 a0001c0001t0001g0293 a0002c0002t0005g0050 a0002c0002t0006g0051	3	316	0.0095	-20	c.149 others(37): Show c.149+1685_149+1704delATGTGTATGTATATATACAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845039	ATGTGTAT others(13): Show ATGTGTATGTATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01256.hp1 others(22): Show HG00741.hp2 HG01074.hp1 HG01256.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02080.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03540.hp1 NA18906.hp1 NA19030.hp1 NA19070.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0006 a0003c0007 a0004c0008 a0006c0010	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(14): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0002c0002t0001 a0002c0002t0002 a0002c0005t0003 a0002c0005t0006 a0002c0005t0007 a0002c0006t0002 a0002c0006t0003 a0002c0006t0005 a0003c0007t0001 a0003c0007t0006 a0004c0008t0006 a0006c0010t0003	a0001c0001t0001g0263 a0001c0003t0001g0027 a0001c0003t0001g0030 others(22): Show a0001c0001t0001g0263 a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0003t0005g0022 a0001c0003t0005g0304 a0001c0003t0007g0024 a0001c0003t0008g0026 a0002c0002t0001g0032 a0002c0002t0001g0259 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0005t0003g0040 a0002c0005t0006g0104 a0002c0005t0007g0018 a0002c0005t0007g0020 a0002c0006t0002g0121 a0002c0006t0003g0120 a0002c0006t0005g0023 a0002c0006t0005g0119 a0003c0007t0001g0025 a0003c0007t0006g0028 a0003c0007t0006g0029 a0003c0007t0006g0031 a0004c0008t0006g0019 a0006c0010t0003g0187	25	316	0.0791	-20	c.149 others(37): Show c.149+1699_149+1718delATACACGTGTGTATGTATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2847703	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02630.hp2 others(9): Show HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp1 NA20300.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0009c0013	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0006t0003 a0009c0013t0005	a0001c0001t0001g0133 a0002c0002t0002g0002 a0002c0002t0003g0010 others(8): Show a0001c0001t0001g0133 a0002c0002t0002g0002 a0002c0002t0003g0010 a0002c0002t0003g0132 a0002c0002t0004g0021 a0002c0002t0005g0016 a0002c0002t0005g0178 a0002c0002t0006g0017 a0002c0002t0006g0134 a0002c0006t0003g0036 a0009c0013t0005g0037	12	316	0.0380	-20	c.149 others(37): Show c.149+4377_149+4396delTAAATAAATAAATAAATAAA	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2856956	CATCTGTT others(13): Show CATCTGTTTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19003.hp2 NA18947.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0075 a0001c0001t0002g0076	2	316	0.0063	-20	c.614 others(35): Show c.614+337_614+356delGTTTATCTATCTATCTATCT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2871689	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00621.hp1 others(53): Show HG00099.hp1 HG00438.hp1 HG00621.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18987.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA19007.hp1 NA19009.hp1 NA19030.hp2 NA19058.hp1 NA19060.hp1 NA19080.hp1 NA19083.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0013	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0008c0014 a0009c0013 a0013c0017	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0004t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0013 a0002c0002t0016 a0002c0005t0007 a0008c0014t0018 a0009c0013t0005 a0013c0017t0005	a0001c0001t0002g0192 a0001c0001t0004g0012 a0001c0001t0004g0084 others(53): Show a0001c0001t0002g0192 a0001c0001t0004g0012 a0001c0001t0004g0084 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0159 a0001c0001t0004g0199 a0001c0001t0004g0230 a0001c0001t0004g0246 a0001c0001t0004g0309 a0001c0001t0008g0064 a0001c0004t0004g0090 a0002c0002t0001g0008 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0170 a0002c0002t0002g0152 a0002c0002t0003g0010 a0002c0002t0003g0136 a0002c0002t0003g0237 a0002c0002t0004g0006 a0002c0002t0004g0021 a0002c0002t0004g0080 a0002c0002t0004g0082 a0002c0002t0004g0137 a0002c0002t0004g0145 a0002c0002t0004g0148 a0002c0002t0004g0151 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0167 a0002c0002t0004g0169 a0002c0002t0004g0171 a0002c0002t0004g0172 a0002c0002t0004g0175 a0002c0002t0004g0215 a0002c0002t0004g0235 a0002c0002t0004g0269 a0002c0002t0004g0297 a0002c0002t0004g0300 a0002c0002t0004g0310 a0002c0002t0005g0050 a0002c0002t0005g0296 a0002c0002t0005g0301 a0002c0002t0006g0043 a0002c0002t0007g0118 a0002c0002t0007g0188 a0002c0002t0007g0193 a0002c0002t0010g0157 a0002c0002t0013g0311 a0002c0002t0016g0272 a0002c0005t0007g0018 a0008c0014t0018g0147 a0009c0013t0005g0037 a0013c0017t0005g0243	56	316	0.1772	-20	c.103 others(39): Show c.1039-4093_1039-4074delTAAATAAATAAATAAATAAA	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYPA_chr4_144104303_144145718	144123451	CTTTTATT others(13): Show CTTTTATTTTATTTTATTTTA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG01975.hp1 others(3): Show HG01069.hp1 HG01099.hp1 HG01975.hp1 HG02145.hp2 HG02451.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0005 a0002c0002t0004 a0001c0001t0004 a0001c0001t0005 a0002c0002t0004	a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0005g0029 others(1): Show a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0005g0029 a0002c0002t0004g0223	6	432	0.0139	-20	c.38- others(35): Show c.38-2883_38-2864delTAAAATAAAATAAAATAAAA	GYPA	ENSG00000170180.22	transcript	ENST00000641688.3	protein_coding	1/6			chr4	TogoVar

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