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
GSTO2_chr10_104264184_104309950	104309331	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0075 a0001c0003t0003g0075	1	300	0.0033	21	c.10 others(34): Show c.10047_*10048insATATATATATATATATATATA	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding		4382		chr10	TogoVar
GTDC1_chr2_143933068_144337512	144133151	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0075 a0002c0002t0029g0075	1	124	0.0081	21	c.521 others(38): Show c.521+8730_521+8731insATATATATATATATATATATA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	210	0.0048	21	c.305 others(40): Show c.305-16199_305-16198insAAAAAAATATATATATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	210	0.0048	21	c.305 others(40): Show c.305-16199_305-16198insAAAAATATATATATATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	210	0.0048	21	c.305 others(40): Show c.305-16199_305-16198insATATATATATATATATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212453	T T	TTCTTTCT others(14): Show TTCTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	210	0.0048	21	c.386 others(38): Show c.386+4957_386+4958insTCTTTTCTTTTCTCTTTCTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158169529	A A	AGTATATT others(14): Show AGTATATTACATATAATATATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03540.hp1 NA18946.hp1 others(2): Show HG01074.hp1 HG03540.hp1 NA18946.hp1 NA19003.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0103 a0001c0001t0122 a0001c0001t0001 a0001c0001t0103 a0001c0001t0122	a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0183 others(2): Show a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0183 a0001c0001t0103g0188 a0001c0001t0122g0157	5	384	0.0130	21	c.-34 others(36): Show c.-34-933_-34-932insCATATAATATATTGTATATTA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169536	T T	TACATATA others(14): Show TACATATAATATATTGTATATC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	384	0.0026	21	c.-34 others(36): Show c.-34-933_-34-932insCATATAATATATTGTATATCA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169548	A A	ATTGTATA others(14): Show ATTGTATATTACATATAATATT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	384	0.0026	21	c.-34 others(36): Show c.-34-922_-34-921insTTGTATATTACATATAATATT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169549	C C	CTGTATAT others(14): Show CTGTATATTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18970.hp1 HG00735.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0270 a0001c0001t0009g0269 a0001c0001t0002g0270 a0001c0001t0009g0269	2	384	0.0052	21	c.-34 others(36): Show c.-34-890_-34-870dupTATATAATATATTGTATATTA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169585	A A	AATATACA others(14): Show AATATACAGTATATTATATATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0197 a0001c0001t0099g0197	1	384	0.0026	21	c.-34 others(36): Show c.-34-880_-34-879insCAGTATATTATATATGATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169686	A A	ATATATAT others(14): Show ATATATATTATATAATGTATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18983.hp2 NA19057.hp1 HG00621.hp2 NA18983.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260	3	384	0.0078	21	c.-34 others(36): Show c.-34-769_-34-768insGTATATTATATATTATATAAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169725	A A	AATATATT others(14): Show AATATATTGTATATTATATATT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0256 a0001c0001t0020g0256	1	384	0.0026	21	c.-34 others(36): Show c.-34-739_-34-719dupTTGTATATTATATATTATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169745	T T	TTATATAA others(14): Show TTATATAATATATTGTATATTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01515.hp1 others(7): Show HG00323.hp2 HG01074.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03927.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0024 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0024 a0001c0001t0043 a0001c0001t0052 a0001c0001t0073 a0001c0001t0099 a0001c0001t0105	a0001c0001t0003g0082 a0001c0001t0006g0033 a0001c0001t0006g0034 others(6): Show a0001c0001t0003g0082 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0024g0033 a0001c0001t0043g0009 a0001c0001t0052g0034 a0001c0001t0073g0198 a0001c0001t0099g0197 a0001c0001t0105g0009	10	384	0.0260	21	c.-34 others(36): Show c.-34-698_-34-678dupAATATATTGTATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169745	T T	TTGTATAT others(14): Show TTGTATATTATATAATATATTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00621.hp1 others(67): Show HG00408.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01192.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02083.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG03098.hp1 HG03209.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp1 NA18939.hp1 NA18946.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0021 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0110 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(58): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0074 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0005g0004 a0001c0001t0005g0028 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0147 a0001c0001t0005g0169 a0001c0001t0005g0174 a0001c0001t0005g0176 a0001c0001t0013g0026 a0001c0001t0013g0122 a0001c0001t0013g0145 a0001c0001t0013g0156 a0001c0001t0021g0136 a0001c0001t0021g0137 a0001c0001t0046g0153 a0001c0001t0048g0011 a0001c0001t0049g0006 a0001c0001t0050g0132 a0001c0001t0050g0172 a0001c0001t0110g0171 a0001c0001t0112g0004 a0001c0001t0113g0168 a0001c0001t0114g0004 a0001c0001t0115g0189 a0001c0001t0116g0175 a0001c0001t0117g0007 a0001c0001t0119g0011 a0001c0001t0120g0006 a0001c0001t0121g0173	70	384	0.1823	21	c.-34 others(36): Show c.-34-724_-34-723insGTATATTATATAATATATTGT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169751	A A	AATATATT others(14): Show AATATATTGTATATTATATATT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	384	0.0026	21	c.-34 others(36): Show c.-34-699_-34-698insTATATATTGTATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169772	A A	AATATATT others(14): Show AATATATTGTATATTATATATT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18612.hp2 NA19043.hp2 others(1): Show HG06807.hp1 NA18612.hp2 NA19043.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0054 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0054 a0001c0001t0077	a0001c0001t0002g0209 a0001c0001t0007g0047 a0001c0001t0054g0102 others(1): Show a0001c0001t0002g0209 a0001c0001t0007g0047 a0001c0001t0054g0102 a0001c0001t0077g0101	4	384	0.0104	21	c.-34 others(36): Show c.-34-670_-34-650dupTGTATATTATATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2IRD1_chr7_74448906_74607605	74558347	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp2 HG04115.hp1 HG02615.hp1 HG03098.hp2 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0189 a0002c0003t0001g0226 a0002c0003t0001g0231 a0002c0003t0001g0189 a0002c0003t0001g0226 a0002c0003t0001g0231	3	262	0.0115	21	c.210 others(38): Show c.2108-504_2108-484dupTTTTTTTTTTTTTTTTTTTTT	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF3C3_chr2_196758035_196804683	196781342	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	252	0.0040	21	c.111 others(38): Show c.1115-681_1115-680insTTTTTTTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781353	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	252	0.0040	21	c.111 others(38): Show c.1115-692_1115-691insATATATATATATATATATATA	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781355	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	252	0.0040	21	c.111 others(38): Show c.1115-694_1115-693insATATATATATATATATATATA	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	252	0.0040	21	c.111 others(38): Show c.1115-696_1115-695insATTTTTTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	252	0.0040	21	c.111 others(38): Show c.1115-696_1115-695insATATTTTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG04228.hp1 HG01358.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0198 a0001c0001t0002g0204 a0001c0001t0001g0198 a0001c0001t0002g0204	2	252	0.0079	21	c.111 others(38): Show c.1115-696_1115-695insATATATTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	252	0.0040	21	c.111 others(38): Show c.1115-696_1115-695insATATATATTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C5_chr9_133025997_133063503	133026956	C C	CTCCCCAG others(14): Show CTCCCCAGCCCCCAGTAGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	380	0.0026	21	c.-40 others(32): Show c.-4056_-4055insTCCCCAGCCCCCAGTAGCTGA	GTF3C5	ENSG00000148308.18	transcript	ENST00000372097.10	protein_coding		4040		chr9	TogoVar
GUCA1C_chr3_108902792_108958879	108911850	A A	AATCCCTG others(14): Show AATCCCTGCACTTTGGGAGGCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	374	0.0027	21	c.443 others(38): Show c.443-3642_443-3641insGGCCTCCCAAAGTGCAGGGAT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108912103	C C	CAATAATA others(14): Show CAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG00741.hp1 others(91): Show HG00621.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01346.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18955.hp1 NA18962.hp2 NA18970.hp2 NA18973.hp2 NA18989.hp1 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19043.hp1 NA19058.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19080.hp1 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0058 others(90): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0058 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0356 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0248 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0275 a0002c0002t0001g0281 a0002c0002t0001g0286 a0002c0002t0001g0297 a0002c0002t0001g0305 a0002c0002t0001g0307 a0002c0002t0001g0311 a0002c0002t0001g0316 a0002c0002t0001g0321 a0002c0004t0001g0357 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0079 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0107 a0003c0003t0001g0114 a0003c0003t0001g0173 a0003c0003t0001g0255 a0003c0003t0001g0323 a0003c0003t0001g0324 a0003c0003t0001g0326 a0003c0003t0001g0328 a0003c0003t0001g0329 a0003c0003t0001g0335 a0003c0003t0001g0337 a0003c0003t0001g0346 a0003c0003t0001g0349 a0003c0003t0001g0352	94	374	0.2513	21	c.443 others(38): Show c.443-3915_443-3895dupATTATTATTATTATTATTATT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108912122	A A	AATAATAA others(14): Show AATAATAATAATAATAATAATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00639.hp1 others(48): Show HG00140.hp2 HG00408.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02738.hp2 HG03669.hp1 HG03927.hp2 HG04228.hp1 NA18943.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18966.hp1 NA18970.hp1 NA18974.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA19010.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19086.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0006t0001	a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0137 others(47): Show a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0076 a0002c0002t0001g0115 a0002c0002t0001g0276 a0002c0002t0001g0280 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0315 a0002c0002t0001g0317 a0003c0003t0001g0006 a0003c0003t0001g0011 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0055 a0003c0003t0001g0082 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0094 a0003c0003t0001g0103 a0003c0003t0001g0106 a0003c0003t0001g0327 a0003c0003t0001g0347 a0005c0006t0001g0155	51	374	0.1364	21	c.443 others(38): Show c.443-3914_443-3913insGATTATTATTATTATTATTAT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108912122	A A	AATAATAA others(14): Show AATAATAATAATAATAATCATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18964.hp2 NA19064.hp2 HG00280.hp2 NA18964.hp2 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0209 a0003c0003t0001g0087 a0003c0003t0001g0111 a0001c0001t0001g0209 a0003c0003t0001g0087 a0003c0003t0001g0111	3	374	0.0080	21	c.443 others(38): Show c.443-3914_443-3913insGATGATTATTATTATTATTAT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108912122	A A	AATAATAA others(14): Show AATAATAATAATAATCATCATC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02523.hp1 HG02523.hp2 others(3): Show HG02083.hp2 HG02523.hp1 HG02523.hp2 HG04115.hp2 NA19002.hp2 NA19080.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0136 a0001c0001t0001g0156 a0001c0001t0001g0247 others(3): Show a0001c0001t0001g0136 a0001c0001t0001g0156 a0001c0001t0001g0247 a0002c0002t0001g0322 a0003c0003t0001g0331 a0003c0003t0001g0332	6	374	0.0160	21	c.443 others(38): Show c.443-3914_443-3913insGATGATGATTATTATTATTAT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108939324	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03130.hp1 HG03225.hp2 others(3): Show HG02809.hp1 HG03130.hp1 HG03225.hp2 NA18967.hp1 NA19072.hp2 NA19090.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0001 a0002c0002t0001 a0004c0005t0001	a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0021 others(3): Show a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0265 a0002c0002t0001g0289 a0004c0005t0001g0261	6	374	0.0160	21	c.204 others(40): Show c.204+14214_204+14234dupAAAAAAAAAAAAAAAAAAAAA	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3			chr3	TogoVar
GUCA2A_chr1_42157690_42169745	42159195	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	436	0.0023	21	c.37 others(32): Show c.3710_*3711insTTTTCTTTTTTTTTTTTTTTT	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		3494		chr1	TogoVar
GUCA2A_chr1_42157690_42169745	42159195	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03516.hp2 NA19067.hp1 HG02055.hp2 HG03516.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0004 a0002c0002t0001g0001 a0001c0001t0002g0004 a0002c0002t0001g0001	3	436	0.0069	21	c.37 others(32): Show c.3710_*3711insTTTTTCTTTTTTTTTTTTTTT	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		3494		chr1	TogoVar
GUCA2A_chr1_42157690_42169745	42159195	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAGAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00609.hp1 others(61): Show HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19067.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19082.hp1 NA19086.hp1 NA19091.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0003g0015 a0001c0001t0003g0024 a0001c0001t0005g0026 a0002c0002t0001g0001 a0003c0003t0001g0006	64	436	0.1468	21	c.37 others(32): Show c.3710_*3711insTTTTTTCTTTTTTTTTTTTTT	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		3494		chr1	TogoVar
GUCA2A_chr1_42157690_42169745	42159209	A A	AGAAAAAA others(14): Show AGAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	21	c.36 others(32): Show c.3696_*3697insCTTTTTTTTTTTTTTTTTTTC	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		3480		chr1	TogoVar
GUCA2B_chr1_42148410_42160820	42159195	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	442	0.0023	21	c.35 others(32): Show c.3599_*3600insAAAAAAAAAAAAAAAAGAAAA	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding		3376		chr1	TogoVar
GUCA2B_chr1_42148410_42160820	42159195	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03516.hp1 NA18969.hp2 others(1): Show HG02055.hp1 HG03516.hp1 NA18969.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0001t0001g0001 a0001c0002t0001g0002	4	442	0.0091	21	c.35 others(32): Show c.3599_*3600insAAAAAAAAAAAAAAAGAAAAA	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding		3376		chr1	TogoVar
GUCA2B_chr1_42148410_42160820	42159195	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAGAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00673.hp2 others(61): Show HG00408.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG03017.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18976.hp1 NA18976.hp2 NA18980.hp2 NA18982.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19082.hp1 NA19086.hp1 NA19091.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0002g0001 a0001c0001t0009g0004 a0001c0002t0001g0002 a0003c0005t0001g0001	64	442	0.1448	21	c.35 others(32): Show c.3599_*3600insAAAAAAAAAAAAAAGAAAAAA	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding		3376		chr1	TogoVar
GUCA2B_chr1_42148410_42160820	42159209	A A	AGAAAAAA others(14): Show AGAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	442	0.0023	21	c.36 others(32): Show c.3613_*3614insGAAAAAAAAAAAAAAAAAAAG	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding		3390		chr1	TogoVar
GUCY1A2_chr11_106669019_107023476	106710006	A A	ATTATATA others(14): Show ATTATATACATGTATATAACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00597.hp2 others(39): Show HG00140.hp2 HG00438.hp1 HG00597.hp2 HG00673.hp2 HG01358.hp1 HG01496.hp2 HG01943.hp1 HG02055.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03579.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp2 NA18946.hp2 NA18950.hp1 NA18981.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp2 NA19030.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(25): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0026 a0001c0001t0028 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0057 a0001c0001t0060 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0017 a0001c0002t0047 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0003t0026 a0001c0003t0029 a0001c0004t0006	a0001c0001t0002g0050 a0001c0001t0002g0102 a0001c0001t0002g0105 others(39): Show a0001c0001t0002g0050 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0006g0036 a0001c0001t0007g0026 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0160 a0001c0001t0007g0164 a0001c0001t0008g0022 a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0054 a0001c0001t0008g0076 a0001c0001t0008g0143 a0001c0001t0017g0072 a0001c0001t0026g0064 a0001c0001t0028g0069 a0001c0001t0040g0078 a0001c0001t0043g0041 a0001c0001t0044g0029 a0001c0001t0048g0003 a0001c0001t0049g0147 a0001c0001t0052g0117 a0001c0001t0057g0038 a0001c0001t0060g0057 a0001c0002t0001g0204 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0006g0189 a0001c0002t0007g0187 a0001c0002t0007g0188 a0001c0002t0007g0191 a0001c0002t0008g0194 a0001c0002t0017g0224 a0001c0002t0047g0197 a0001c0003t0002g0229 a0001c0003t0003g0232 a0001c0003t0017g0231 a0001c0003t0026g0230 a0001c0003t0029g0240 a0001c0004t0006g0220	42	256	0.1641	21	c.183 others(40): Show c.1837-1341_1837-1340insATGTTATATACATGTATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944215	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01255.hp1 others(21): Show HG00438.hp1 HG00544.hp1 HG01255.hp1 HG01255.hp2 HG01943.hp2 HG01952.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02717.hp2 HG02723.hp1 HG03927.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18951.hp2 NA18971.hp1 NA18975.hp2 NA19005.hp1 NA19010.hp2 NA19056.hp1 NA19064.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 a0001c0001t0048 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0014 a0001c0003t0018 a0001c0004t0002 a0001c0004t0006 a0001c0007t0005 a0001c0008t0070	a0001c0001t0001g0017 a0001c0001t0002g0007 a0001c0001t0002g0008 others(21): Show a0001c0001t0001g0017 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0003g0014 a0001c0001t0004g0174 a0001c0001t0005g0027 a0001c0001t0007g0026 a0001c0001t0023g0012 a0001c0001t0048g0003 a0001c0002t0003g0228 a0001c0002t0004g0183 a0001c0002t0006g0189 a0001c0003t0002g0229 a0001c0003t0004g0247 a0001c0003t0009g0249 a0001c0003t0014g0243 a0001c0003t0018g0251 a0001c0003t0018g0252 a0001c0004t0002g0221 a0001c0004t0006g0226 a0001c0007t0005g0018 a0001c0007t0005g0025 a0001c0008t0070g0024	24	256	0.0938	21	c.488 others(38): Show c.488-4058_488-4038dupTTTTTTTTTTTTTTTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GUCY1B1_chr4_155754021_155812811	155797735	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02559.hp1 others(11): Show HG01070.hp1 HG01071.hp2 HG02559.hp1 HG02717.hp2 HG03195.hp1 HG04115.hp1 HG04228.hp1 NA18906.hp1 NA18969.hp1 NA18969.hp2 NA18982.hp2 NA19043.hp1 NA19075.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0003t0002	a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0206 others(9): Show a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0206 a0001c0001t0001g0303 a0001c0001t0002g0008 a0001c0001t0002g0128 a0001c0001t0002g0146 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0198 a0001c0001t0009g0073 a0001c0003t0002g0289	14	364	0.0385	21	c.977 others(38): Show c.977+1233_977+1253dupATAATAATAATAATAATAATA	GUCY1B1	ENSG00000061918.14	transcript	ENST00000264424.13	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
GVQW3_chr11_76376323_76413132	76407239	A A	ATTGTTTT others(14): Show ATTGTTTTCTCAGAGCAATTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0124 a0001c0001t0036g0124	1	382	0.0026	21	c.34 others(32): Show c.3482_*3502dupTTGTTTTCTCAGAGCAATTTC	GVQW3	ENSG00000179240.13	transcript	ENST00000529331.2	protein_coding	2/2	3503	INFO_REALIGN_3_PRIME	chr11	TogoVar
GYG1_chr3_148986540_149036775	149022498	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00639.hp1 others(33): Show HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG01069.hp2 HG01358.hp2 HG01952.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02300.hp1 HG02523.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp2 NA18941.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp2 NA18971.hp1 NA18980.hp2 NA18989.hp2 NA18998.hp2 NA18999.hp2 NA19006.hp1 NA19056.hp1 NA19064.hp2 NA19076.hp2 NA19077.hp1 NA19082.hp1 NA19084.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0001c0001t0024 a0001c0003t0004	a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 others(29): Show a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0205 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0007g0038 a0001c0001t0007g0227 a0001c0001t0007g0248 a0001c0001t0017g0252 a0001c0001t0024g0233 a0001c0003t0004g0042	36	414	0.0870	21	c.609 others(38): Show c.609-1537_609-1536insTTTTTTTTTTTTTTTTTTTTT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GYG2_chrX_2823930_2887818	2838452	C C	CCCCTCCC others(14): Show CCCCTCCCCTCCCTTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18906.hp2 HG02486.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0005 a0002c0002t0003 a0002c0002t0005	a0002c0002t0003g0109 a0002c0002t0005g0108 a0002c0002t0003g0109 a0002c0002t0005g0108	2	316	0.0063	21	c.8-4 others(34): Show c.8-4754_8-4753insCTCCCTTCCTCCTTCCCTCCC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2841169	G G	GATAGACA others(14): Show GATAGACAATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0305 a0012c0012t0001g0305	1	316	0.0032	21	c.8-2 others(34): Show c.8-2040_8-2020dupGACAATGGATGGATGGATATA	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYS1_chr19_48963130_48998309	48978530	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03239.hp2 HG03654.hp1 others(2): Show HG02622.hp1 HG03239.hp2 HG03654.hp1 HG04184.hp2 NA18612.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0014 a0001c0001 a0001c0007 a0004c0014	a0001c0001t0001 a0001c0007t0006 a0004c0014t0001 a0001c0001t0001 a0001c0007t0006 a0004c0014t0001	a0001c0001t0001g0104 a0001c0001t0001g0204 a0001c0001t0001g0269 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0204 a0001c0001t0001g0269 a0001c0007t0006g0064 a0004c0014t0001g0154	5	390	0.0128	21	c.117 others(38): Show c.1170-394_1170-374dupTAATAATAATAATAATAATAA	GYS1	ENSG00000104812.15	transcript	ENST00000323798.8	protein_coding	8/15			chr19	TogoVar
GZMK_chr5_55019256_55039570	55022347	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA18970.hp1 HG02723.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	464	0.0043	21	c.-19 others(32): Show c.-1976_-1975insCACACACACACACACACACAC	GZMK	ENSG00000113088.6	transcript	ENST00000231009.3	protein_coding		1908		chr5	TogoVar
GZMM_chr19_539053_554922	548757	C C	CCCGCTGC others(14): Show CCCGCTGCCGACCCTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03654.hp1 HG02258.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0251 a0001c0001t0001g0113 a0001c0001t0001g0251	2	398	0.0050	21	c.348 others(34): Show c.348+81_348+82insCGCTGCCGACCCTCCCCCCGC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar

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