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	119958764	A A	AATGAAAA others(17): Show AATGAAAAGAGTGTTCACTTTTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	300	0.0033	24	c.283 others(43): Show c.283-11437_283-11414dupGAAAAAAGTGAACACTCTTTTCAT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	2/10			chr3	TogoVar
GSR_chr8_30673066_30732846	30700723	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0248 a0001c0001t0010g0248	1	348	0.0029	24	c.641 others(39): Show c.641-612_641-589dupTTTTTTTTTTTTTTTTTTTTTTTT	GSR	ENSG00000104687.14	transcript	ENST00000221130.11	protein_coding	5/12			chr8	TogoVar
GSTA1_chr6_52786371_52808816	52796543	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0176 a0001c0002t0002g0176	1	436	0.0023	24	c.140 others(39): Show c.140-230_140-229insAAAAAAAAAAAATATATATATATA	GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding	3/6			chr6	TogoVar
GSTCD_chr4_105703784_105852725	105728680	T T	TATAGATA others(17): Show TATAGATATAGATATATAGATATAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01175.hp1 HG02145.hp2 others(9): Show HG00597.hp2 HG01175.hp1 HG02145.hp2 HG02258.hp2 HG02896.hp2 HG02965.hp1 HG03139.hp1 NA18906.hp2 NA18972.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0002c0003t0010	a0001c0001t0003g0068 a0001c0001t0003g0106 a0001c0001t0003g0107 others(9): Show a0001c0001t0003g0068 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0125 a0001c0001t0003g0139 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0013g0070 a0001c0001t0014g0105 a0002c0003t0010g0126	12	186	0.0645	24	c.114 others(41): Show c.1147-723_1147-722insGATATAGATATATAGATATAGATA	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTCD_chr4_105703784_105852725	105728680	T T	TATAGATA others(17): Show TATAGATATATAGATATAGATATAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG03098.hp2 others(1): Show HG00735.hp1 HG01243.hp1 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 others(1): Show a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0015g0183	4	186	0.0215	24	c.114 others(41): Show c.1147-723_1147-722insGATATATAGATATAGATATAGATA	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTO2_chr10_104264184_104309950	104293563	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0228 a0001c0004t0005g0228	1	300	0.0033	24	c.469 others(41): Show c.469-3993_469-3992insTTTTTTTTTTTTTTTTTTTTTTTT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTDC1_chr2_143933068_144337512	144133151	A A	ATATATAT others(17): Show ATATATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03471.hp2 HG03195.hp2 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0083 a0003c0004t0014g0087 a0003c0004t0014g0083 a0003c0004t0014g0087	2	124	0.0161	24	c.521 others(41): Show c.521+8730_521+8731insATATATATATTATATATATATATA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144182786	T T	TATATATA others(17): Show TATATATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02602.hp2 NA18951.hp1 others(1): Show HG01243.hp1 HG02602.hp2 NA18951.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0027 a0002c0002t0001 a0001c0001t0001 a0001c0001t0027 a0002c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0027g0064 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0027g0064 a0002c0002t0001g0060	4	124	0.0323	24	c.179 others(43): Show c.179+25816_179+25817insTATATATATAATATATATATATAT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	4/11			chr2	TogoVar
GTF2A1_chr14_81170452_81225959	81211875	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp1 NA19080.hp1 HG03209.hp2 HG03486.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0207 a0001c0001t0007g0016 a0001c0001t0003g0207 a0001c0001t0007g0016	3	350	0.0086	24	c.132 others(41): Show c.132+4514_132+4537dupTATATATATATATATATATATATA	GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	2/8			chr14	TogoVar
GTF2A2_chr15_59633062_59662515	59641595	C C	CAGAAATT others(17): Show CAGAAATTAGGTGTATAGTTTTTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp2 HG01891.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0027 a0001c0001t0015 a0001c0001t0027	a0001c0001t0015g0151 a0001c0001t0027g0227 a0001c0001t0015g0151 a0001c0001t0027g0227	2	436	0.0046	24	c.304 others(39): Show c.304+517_304+540dupTCAAAAACTATACACCTAATTTCT	GTF2A2	ENSG00000140307.11	transcript	ENST00000396060.7	protein_coding	4/4			chr15	TogoVar
GTF2B_chr1_88847633_88896567	88894027	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	372	0.0027	24	c.-25 others(35): Show c.-2529_-2528insGTGTGTGTGTGTGTGTGTGTGTGT	GTF2B	ENSG00000137947.12	transcript	ENST00000370500.10	protein_coding		2461		chr1	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03225.hp2 HG00738.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0209 a0001c0001t0004g0074 a0001c0001t0001g0209 a0001c0001t0004g0074	2	210	0.0095	24	c.305 others(43): Show c.305-16199_305-16198insAAAAAATATATATATATATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	210	0.0048	24	c.305 others(43): Show c.305-16192_305-16169dupTATATATATATATATATATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212451	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	210	0.0048	24	c.386 others(41): Show c.386+4957_386+4958insTCTTTTCTTTTCTTTTCTTTCTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45228283	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	210	0.0048	24	c.386 others(43): Show c.386+20794_386+20795insTTTTTTTTTTTTTTTTTTTTTTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158169681	A A	ATAATATA others(17): Show ATAATATATATTATATAATATATTG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	384	0.0026	24	c.-34 others(39): Show c.-34-787_-34-786insATATATATTATATAATATATTGTA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169681	A A	ATATTGTA others(17): Show ATATTGTATATTATATAATATATTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03130.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0089 a0001c0001t0034 a0001c0001t0089	a0001c0001t0034g0067 a0001c0001t0034g0069 a0001c0001t0089g0068 a0001c0001t0034g0067 a0001c0001t0034g0069 a0001c0001t0089g0068	3	384	0.0078	24	c.-34 others(39): Show c.-34-786_-34-785insTGTATATTATATAATATATTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169686	A A	ATATATTA others(17): Show ATATATTATATAATATATTGTATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19070.hp2 NA18951.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0263 a0001c0001t0003g0107 a0001c0001t0002g0263 a0001c0001t0003g0107	2	384	0.0052	24	c.-34 others(39): Show c.-34-779_-34-778insTATATAATATATTGTATATTATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175024	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0192 a0001c0001t0044g0192	1	384	0.0026	24	c.35+ others(39): Show c.35+4505_35+4506insATATATGTGTGTGTGTGTGTGTGT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0062 a0001c0001t0039g0062	1	384	0.0026	24	c.35+ others(39): Show c.35+4507_35+4508insGTGTGTGTGTGTGTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2IRD1_chr7_74448906_74607605	74589429	G G	GGCTCACA others(17): Show GGCTCACACCTGTAATCCCAGCACT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0090 a0002c0007t0001g0090	1	262	0.0038	24	c.232 others(41): Show c.2321-421_2321-398dupGCTCACACCTGTAATCCCAGCACT	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74723428	C C	CCTTTTTT others(17): Show CCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	2	174	0.0115	24	c.943 others(41): Show c.943+4487_943+4488insCTTTTTTTTTTTTTTTTTTTTTTT	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	12/34			chr7	TogoVar
GTF3C2_chr2_27320854_27361764	27358735	C C	CACCTCTC others(17): Show CACCTCTCTACCTCTCTACCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00733.hp2 others(26): Show HG00280.hp2 HG00639.hp1 HG00733.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03471.hp2 NA18906.hp2 NA18955.hp1 NA18982.hp1 NA18985.hp1 NA19000.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0007 a0001c0002 a0001c0005 a0001c0007	a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001	a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0018 others(24): Show a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0168 a0001c0002t0001g0173 a0001c0002t0001g0181 a0001c0002t0001g0190 a0001c0002t0001g0197 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0219 a0001c0002t0001g0222 a0001c0002t0001g0238 a0001c0005t0001g0160 a0001c0005t0001g0195 a0001c0007t0001g0027	29	286	0.1014	24	c.-20 others(35): Show c.-2022_-2021insAGAGAGGTAGAGAGGTAGAGAGGT	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding		1972		chr2	TogoVar
GTPBP3_chr19_17332553_17347731	17342470	G G	GTTGACCA others(17): Show GTTGACCAGGCTGGTCTTGAACTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0004 a0001c0001t0013g0004	1	408	0.0025	24	c.77 others(33): Show c.774_*797dupAGGCTGGTCTTGAACTCCTTGACC	GTPBP3	ENSG00000130299.17	transcript	ENST00000324894.13	protein_coding	9/9	798	INFO_REALIGN_3_PRIME	chr19	TogoVar
GTPBP6_chrX_299759_323796	315685	T T	TACACACG others(17): Show TACACACGCAGACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0003 a0015c0021t0003	a0015c0021t0003g0082 a0015c0021t0003g0082	1	155	0.0065	24	c.488 others(39): Show c.488-387_488-386insGTGTGTGTGTGTGTCTGCGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GUCA1B_chr6_42178284_42199956	42188902	A A	ATCTATCT others(17): Show ATCTATCTATCTATCTATCTATATC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01257.hp2 HG01258.hp1 others(41): Show HG00741.hp1 HG01257.hp2 HG01258.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02145.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18952.hp1 NA18952.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18979.hp2 NA18980.hp1 NA18989.hp1 NA18994.hp2 NA19004.hp1 NA19006.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp1 NA19068.hp2 NA19082.hp2 NA19086.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0021 others(22): Show a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0021 a0001c0002t0003g0038 a0001c0002t0003g0119 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0171 a0001c0002t0005g0022 a0001c0002t0005g0040 a0001c0002t0005g0041 a0001c0002t0005g0112 a0001c0002t0005g0113 a0001c0002t0005g0143 a0001c0002t0005g0160 a0001c0002t0005g0162 a0001c0002t0005g0163	44	418	0.1053	24	c.208 others(39): Show c.208-172_208-171insGATATAGATAGATAGATAGATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCA1C_chr3_108902792_108958879	108912103	C C	CAATAATA others(17): Show CAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG01243.hp1 others(39): Show HG00280.hp1 HG00438.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01517.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03540.hp2 HG03831.hp2 NA18906.hp2 NA18947.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18994.hp1 NA18995.hp2 NA19060.hp2 NA19085.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0010	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0006c0008 a0010c0010	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0006c0008t0001 a0010c0010t0001	a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 others(37): Show a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0190 a0001c0001t0001g0205 a0001c0001t0001g0228 a0001c0001t0001g0251 a0002c0002t0001g0003 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0029 a0002c0002t0001g0232 a0002c0002t0001g0249 a0002c0002t0001g0265 a0002c0002t0001g0269 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0306 a0002c0002t0001g0320 a0002c0004t0001g0364 a0003c0003t0001g0009 a0003c0003t0001g0059 a0003c0003t0001g0093 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0256 a0003c0003t0001g0260 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0336 a0003c0003t0001g0340 a0003c0003t0001g0345 a0003c0003t0001g0354 a0006c0008t0001g0069 a0010c0010t0001g0258	42	374	0.1123	24	c.443 others(41): Show c.443-3895_443-3894insATTATTATTATTATTATTATTATT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108912122	A A	AATAATAA others(17): Show AATAATAATAATAATAATAATAATC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp2 HG01943.hp2 others(8): Show HG01256.hp2 HG01496.hp2 HG01943.hp2 NA18942.hp2 NA18952.hp1 NA18971.hp1 NA18971.hp2 NA18988.hp2 NA18991.hp2 NA19012.hp2 NA19072.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0052 a0001c0001t0001g0151 a0001c0001t0001g0197 others(8): Show a0001c0001t0001g0052 a0001c0001t0001g0151 a0001c0001t0001g0197 a0002c0002t0001g0278 a0002c0002t0001g0312 a0003c0003t0001g0024 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0096 a0003c0003t0001g0104 a0003c0003t0001g0146	11	374	0.0294	24	c.443 others(41): Show c.443-3914_443-3913insGATTATTATTATTATTATTATTAT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108912122	A A	AATAATAA others(17): Show AATAATAATAATAATAATAATCATC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0295 a0002c0002t0001g0295	1	374	0.0027	24	c.443 others(41): Show c.443-3914_443-3913insGATGATTATTATTATTATTATTAT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG04199.hp2 NA19010.hp1 HG02647.hp2 HG04199.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0005 a0001c0001t0009 a0001c0007t0042 a0001c0001t0005 a0001c0001t0009 a0001c0007t0042	a0001c0001t0005g0101 a0001c0001t0009g0114 a0001c0007t0042g0128 a0001c0001t0005g0101 a0001c0001t0009g0114 a0001c0007t0042g0128	3	256	0.0117	24	c.199 others(45): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709971	A A	ACATGTAT others(17): Show ACATGTATATAACATATAGTTATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00639.hp1 others(24): Show HG00099.hp1 HG00408.hp1 HG00639.hp1 HG01099.hp1 HG01346.hp1 HG01433.hp2 HG01943.hp2 HG02080.hp2 HG02083.hp2 HG02257.hp1 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG03490.hp2 HG03927.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA19064.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0002t0005 a0001c0002t0061 a0001c0003t0003 a0001c0003t0018 a0001c0004t0003 a0001c0004t0005 a0001c0004t0058 a0001c0006t0005 a0001c0006t0006 a0001c0007t0005 a0001c0010t0005	a0001c0001t0001g0140 a0001c0001t0002g0133 a0001c0001t0003g0014 others(24): Show a0001c0001t0001g0140 a0001c0001t0002g0133 a0001c0001t0003g0014 a0001c0001t0005g0119 a0001c0001t0005g0134 a0001c0001t0005g0154 a0001c0001t0005g0165 a0001c0001t0006g0149 a0001c0001t0006g0152 a0001c0001t0010g0100 a0001c0001t0019g0049 a0001c0001t0019g0085 a0001c0002t0005g0222 a0001c0002t0061g0193 a0001c0003t0003g0245 a0001c0003t0018g0251 a0001c0004t0003g0223 a0001c0004t0005g0205 a0001c0004t0005g0227 a0001c0004t0058g0217 a0001c0006t0005g0203 a0001c0006t0005g0210 a0001c0006t0005g0213 a0001c0006t0006g0216 a0001c0007t0005g0018 a0001c0007t0005g0025 a0001c0010t0005g0166	27	256	0.1055	24	c.183 others(43): Show c.1837-1306_1837-1305insATATAACTATATGTTATATACATG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106740648	C C	CTGTATGT others(17): Show CTGTATGTATGTATGTATGTATGTA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19064.hp2 NA18951.hp2 NA19064.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0018 a0001c0007t0005g0025 a0001c0007t0005g0018 a0001c0007t0005g0025	2	256	0.0078	24	c.183 others(45): Show c.1837-32006_1837-31983dupTACATACATACATACATACATACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106909355	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02257.hp2 HG02602.hp1 others(5): Show HG00544.hp2 HG02257.hp2 HG02602.hp1 HG02723.hp1 NA18944.hp2 NA18981.hp1 NA19003.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0055 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0055 a0001c0001t0066 a0001c0002t0006 a0001c0003t0002	a0001c0001t0001g0068 a0001c0001t0002g0040 a0001c0001t0002g0082 others(5): Show a0001c0001t0001g0068 a0001c0001t0002g0040 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0055g0094 a0001c0001t0066g0002 a0001c0002t0006g0189 a0001c0003t0002g0229	8	256	0.0313	24	c.120 others(45): Show c.1206+30081_1206+30104dupCACACACACACACACACACACACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944215	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02109.hp1 HG01261.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0003 a0001c0001t0012 a0001c0003t0003	a0001c0001t0012g0087 a0001c0003t0003g0238 a0001c0001t0012g0087 a0001c0003t0003g0238	2	256	0.0078	24	c.488 others(41): Show c.488-4038_488-4037insTTTTTTTTTTTTTTTTTTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GUCY1B1_chr4_155754021_155812811	155797735	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	364	0.0028	24	c.977 others(41): Show c.977+1230_977+1253dupATAATAATAATAATAATAATAATA	GUCY1B1	ENSG00000061918.14	transcript	ENST00000264424.13	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
GULP1_chr2_188286874_188600926	188352618	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	162	0.0062	24	c.-17 others(45): Show c.-171-31137_-171-31114dupACACACACACACACACACACACAC	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GULP1_chr2_188286874_188600926	188352618	T T	TCTCACAC others(17): Show TCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0149 a0001c0001t0019g0149	1	162	0.0062	24	c.-17 others(45): Show c.-171-31144_-171-31143insTCACACACACACACACACACACAC	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GULP1_chr2_188286874_188600926	188352649	C C	CACACACA others(17): Show CACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0025 a0001c0001t0009g0025	1	162	0.0062	24	c.-17 others(45): Show c.-171-31114_-171-31113insACACACACACACACACACACACAT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
GULP1_chr2_188286874_188600926	188368939	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0030 a0001c0001t0011g0030	1	162	0.0062	24	c.-17 others(45): Show c.-171-14808_-171-14785dupATATATATATATATATATATATAT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GXYLT1_chr12_42076845_42149874	42098760	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp2 HG02004.hp1 others(15): Show HG01099.hp1 HG01981.hp2 HG02004.hp1 HG02273.hp1 HG02630.hp1 HG02965.hp2 HG03195.hp1 HG04228.hp2 NA18948.hp1 NA18950.hp1 NA18962.hp1 NA18972.hp1 NA18995.hp2 NA19030.hp1 NA19056.hp2 NA19066.hp1 NA19070.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0002t0003 a0001c0003t0001 others(1): Show a0001c0001t0009 a0001c0002t0003 a0001c0003t0001 a0001c0003t0013	a0001c0001t0009g0258 a0001c0002t0003g0009 a0001c0002t0003g0090 others(14): Show a0001c0001t0009g0258 a0001c0002t0003g0009 a0001c0002t0003g0090 a0001c0002t0003g0092 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0175 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0202 a0001c0003t0001g0104 a0001c0003t0001g0116 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0013g0152	18	398	0.0452	24	c.865 others(39): Show c.865-751_865-728dupATATATATATATATATATATATAT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	5/7			chr12	TogoVar
GYG1_chr3_148986540_149036775	149022498	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp1 HG03654.hp1 others(3): Show HG01978.hp2 HG02257.hp1 HG03654.hp1 NA18972.hp1 NA19002.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0208 a0001c0001t0002g0235 a0001c0001t0002g0256 others(3): Show a0001c0001t0002g0208 a0001c0001t0002g0235 a0001c0001t0002g0256 a0001c0001t0002g0261 a0001c0001t0002g0267 a0001c0001t0011g0209	6	414	0.0145	24	c.609 others(41): Show c.609-1537_609-1536insTTTTTTTTTTTTTTTTTTTTTTTT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GYG2_chrX_2823930_2887818	2843112	C C	CATGAATT others(17): Show CATGAATTCACGTCTGGCCAAGATT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0117 a0002c0002t0005g0117	1	316	0.0032	24	c.8-1 others(35): Show c.8-101_8-100insATGAATTCACGTCTGGCCAAGATT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	2/10			chrX	TogoVar
GYG2_chrX_2823930_2887818	2844668	G G	GTGTATAC others(17): Show GTGTATACGCACACGCATGCGTATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0117 a0002c0002t0005g0117	1	316	0.0032	24	c.149 others(41): Show c.149+1318_149+1341dupATACGCACACGCATGCGTATATGT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845047	G G	GTATATAT others(17): Show GTATATATACACATGTGTATGTATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0296 a0002c0002t0005g0296	1	316	0.0032	24	c.149 others(41): Show c.149+1704_149+1705insATGTGTATGTATATATATATACAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845073	T T	TTATATAC others(17): Show TTATATACACATGTGTATGTATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	316	0.0032	24	c.149 others(41): Show c.149+1728_149+1729insATGTGTATGTATATATATATACAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845551	A A	ATATACAC others(17): Show ATATACACGTGTATATACACATGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02886.hp2 others(2): Show HG02572.hp1 HG02630.hp1 HG02886.hp2 HG03486.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006	a0002c0002t0002g0002 a0002c0002t0003g0132 a0002c0002t0005g0178 others(1): Show a0002c0002t0002g0002 a0002c0002t0003g0132 a0002c0002t0005g0178 a0002c0002t0006g0017	5	316	0.0158	24	c.149 others(41): Show c.149+2198_149+2199insATACACGTGTATATACACATGTGT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYS1_chr19_48963130_48998309	48978530	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	390	0.0026	24	c.117 others(41): Show c.1170-374_1170-373insTAATAATAATAATAATAATAATAA	GYS1	ENSG00000104812.15	transcript	ENST00000323798.8	protein_coding	8/15			chr19	TogoVar
GZMK_chr5_55019256_55039570	55022321	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG01109.hp2 others(49): Show HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02965.hp2 HG03195.hp1 HG03453.hp2 HG04184.hp1 NA18522.hp1 NA18943.hp2 NA18948.hp2 NA18959.hp1 NA18960.hp2 NA18967.hp1 NA18969.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18999.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19064.hp2 NA19068.hp2 NA19072.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19240.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0019 a0001c0002t0001 a0001c0002t0004 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0040 a0001c0001t0002g0050 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0024 a0001c0001t0004g0001 a0001c0001t0006g0001 a0001c0001t0012g0033 a0001c0001t0019g0001 a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0039 a0001c0002t0001g0101 a0001c0002t0004g0010 a0003c0005t0001g0012	52	464	0.1121	24	c.-20 others(35): Show c.-2002_-2001insCACACACACACACACACACACACA	GZMK	ENSG00000113088.6	transcript	ENST00000231009.3	protein_coding		1934		chr5	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03453.hp1 NA18983.hp1 HG02559.hp1 HG03453.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0001 a0001c0012t0001g0045 a0001c0001t0001g0001 a0001c0012t0001g0045	3	422	0.0071	24	c.-46 others(35): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTCCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01975.hp2 HG02056.hp2 others(16): Show HG00544.hp1 HG01975.hp2 HG02056.hp2 HG02155.hp1 HG02615.hp1 HG02886.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 NA18747.hp1 NA18947.hp2 NA18981.hp1 NA18993.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp1 NA19068.hp1 NA19084.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0038 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0003t0001g0006 a0001c0003t0001g0113 a0002c0002t0001g0086 a0005c0007t0001g0001	19	422	0.0450	24	c.-46 others(35): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar

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