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
GSTCD_chr4_105703784_105852725	105766887	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	186	0.0054	26	c.124 others(47): Show c.1240+37413_1240+37414insTTTTTTTTTTTTTTTTTTTTTTTT TT	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTO2_chr10_104264184_104309950	104293563	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp2 HG02055.hp2 others(10): Show HG00621.hp1 HG01109.hp2 HG02055.hp2 HG02258.hp2 HG02572.hp2 HG02723.hp2 HG03209.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 NA18979.hp2 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0044 a0001c0004t0005 others(3): Show a0001c0002t0002 a0001c0002t0044 a0001c0004t0005 a0001c0004t0007 a0001c0004t0050 a0001c0004t0051	a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0110 others(9): Show a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0044g0103 a0001c0004t0005g0229 a0001c0004t0005g0233 a0001c0004t0007g0002 a0001c0004t0007g0056 a0001c0004t0007g0057 a0001c0004t0007g0058 a0001c0004t0050g0002 a0001c0004t0051g0053	13	300	0.0433	26	c.469 others(43): Show c.469-3993_469-3992insTTTTTTTTTTTTTTTTTTTTTTTTTT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTDC1_chr2_143933068_144337512	144133471	T T	TATAATAT others(19): Show TATAATATATATTATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	124	0.0081	26	c.521 others(43): Show c.521+8410_521+8411insTATATAATATATATAATATATATTAT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTF2A1_chr14_81170452_81225959	81211873	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0099 a0001c0001t0012g0099	1	350	0.0029	26	c.132 others(43): Show c.132+4539_132+4540insTATATATATATATATATATATATATA	GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	2/8			chr14	TogoVar
GTF2A1_chr14_81170452_81225959	81211875	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp2 HG03669.hp2 others(1): Show HG02257.hp1 HG02723.hp2 HG03669.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069 others(1): Show a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0015g0058	4	350	0.0114	26	c.132 others(43): Show c.132+4512_132+4537dupTATATATATATATATATATATATATA	GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	2/8			chr14	TogoVar
GTF2A1_chr14_81170452_81225959	81220280	T T	TCCCCGCG others(19): Show TCCCCGCGCCGCGAGCCCTCGGCGCCC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19083.hp1 NA18988.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0274 a0001c0001t0005g0275	2	350	0.0057	26	c.30+ others(39): Show c.30+183_30+208dupGGGCGCCGAGGGCTCGCGGCGCGGGG	GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	1/8			chr14	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	210	0.0048	26	c.305 others(45): Show c.305-16199_305-16198insAAAATATATATATATATATATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212447	G G	GTTTCTTT others(19): Show GTTTCTTTCTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp2 NA18954.hp2 others(1): Show HG00423.hp1 HG00738.hp2 NA18954.hp2 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0117 a0001c0002t0001g0183 others(1): Show a0001c0002t0001g0110 a0001c0002t0001g0117 a0001c0002t0001g0183 a0001c0002t0001g0189	4	210	0.0191	26	c.386 others(43): Show c.386+4957_386+4958insTCTTTTCTTTCTTTCTTTCTTTCTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212459	C C	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01175.hp2 others(3): Show HG00738.hp1 HG01099.hp2 HG01175.hp2 HG01891.hp1 HG02109.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0093 others(3): Show a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0209	6	210	0.0286	26	c.386 others(43): Show c.386+4957_386+4958insTCTTTTCTTTTCTTTTCTTTTCTTTT	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(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01071.hp1 others(2): Show HG00639.hp1 HG01069.hp1 HG01071.hp1 HG02572.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0097 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0006g0055	5	210	0.0238	26	c.386 others(45): Show c.386+20794_386+20795insTTTTTTTTTTTTTTTTTTTTTTTTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158169448	A A	ATATTATA others(19): Show ATATTATATATTATATATATTATATTG	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	26	c.-34 others(43): Show c.-34-1019_-34-1018insTATATATTATATATATTATATTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169600	A A	ATATATAA others(19): Show ATATATAATATATTGTATATTACATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02523.hp1 NA18939.hp1 others(4): Show HG02040.hp2 HG02523.hp1 NA18939.hp1 NA18946.hp2 NA18981.hp2 NA19002.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0049 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0049 a0001c0001t0120	a0001c0001t0001g0006 a0001c0001t0005g0138 a0001c0001t0005g0139 others(2): Show a0001c0001t0001g0006 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0049g0006 a0001c0001t0120g0006	7	384	0.0182	26	c.-34 others(41): Show c.-34-870_-34-869insTATATAATATATTGTATATTACATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169601	C C	CATATAAT others(19): Show CATATAATATATTGTATATTACATATA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA19011.hp2 NA18963.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0140 a0001c0001t0047g0141 a0001c0001t0047g0140 a0001c0001t0047g0141	2	384	0.0052	26	c.-34 others(41): Show c.-34-864_-34-863insATATATTGTATATTACATATAATATA	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(19): Show ATATATATTATATAATATATTGTACAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	384	0.0026	26	c.-34 others(41): Show c.-34-761_-34-760insCATTATATATTATATAATATATTGTA	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(19): Show ATATATATTATATAATATATTGTATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp2 others(65): Show HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01978.hp1 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02257.hp2 HG02273.hp2 HG02523.hp2 HG02683.hp1 HG02735.hp2 HG02976.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18939.hp2 NA18941.hp1 NA18953.hp2 NA18955.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18987.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19054.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0001t0080 a0001c0001t0081	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0014 others(54): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0037 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0003g0098 a0001c0001t0004g0002 a0001c0001t0004g0012 a0001c0001t0004g0235 a0001c0001t0004g0253 a0001c0001t0004g0280 a0001c0001t0006g0008 a0001c0001t0006g0035 a0001c0001t0006g0230 a0001c0001t0006g0246 a0001c0001t0008g0099 a0001c0001t0009g0008 a0001c0001t0009g0232 a0001c0001t0009g0233 a0001c0001t0009g0245 a0001c0001t0009g0248 a0001c0001t0009g0269 a0001c0001t0009g0279 a0001c0001t0010g0199 a0001c0001t0010g0205 a0001c0001t0010g0227 a0001c0001t0010g0239 a0001c0001t0010g0242 a0001c0001t0020g0202 a0001c0001t0022g0036 a0001c0001t0023g0037 a0001c0001t0023g0236 a0001c0001t0025g0014 a0001c0001t0025g0100 a0001c0001t0028g0272 a0001c0001t0032g0097 a0001c0001t0033g0268 a0001c0001t0053g0229 a0001c0001t0055g0238 a0001c0001t0056g0208 a0001c0001t0057g0247 a0001c0001t0058g0271 a0001c0001t0060g0002 a0001c0001t0063g0002 a0001c0001t0064g0002 a0001c0001t0066g0228 a0001c0001t0068g0240 a0001c0001t0071g0241 a0001c0001t0072g0234 a0001c0001t0080g0117 a0001c0001t0081g0008	68	384	0.1771	26	c.-34 others(41): Show c.-34-724_-34-699dupTATATAATATATTGTATATTATATAT	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(19): Show ATATATATTATATATTATATTGTATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02647.hp1 others(1): Show HG02055.hp2 HG02109.hp2 HG02647.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0004g0040 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0004g0040	4	384	0.0104	26	c.-34 others(41): Show c.-34-771_-34-770insTTATATTGTATATTATATATTATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTATATAT others(19): Show GTATATATGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	384	0.0026	26	c.35+ others(41): Show c.35+4510_35+4511insTATGTGTGTGTGTGTGTGTGTATATA	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(19): Show GTGTGTGTGTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG06807.hp2 HG01884.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0099 a0001c0001t0011 a0001c0001t0099	a0001c0001t0011g0065 a0001c0001t0099g0197 a0001c0001t0011g0065 a0001c0001t0099g0197	2	384	0.0052	26	c.35+ others(41): Show c.35+4507_35+4508insGTGTGTGTATGTGTGTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF3C3_chr2_196758035_196804683	196781353	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp2 NA18989.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0023 a0001c0001t0001g0038	2	252	0.0079	26	c.111 others(43): Show c.1115-692_1115-691insATATATATATATATATATATATATAT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	252	0.0040	26	c.111 others(43): Show c.1115-696_1115-695insATATATATATTTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	252	0.0040	26	c.111 others(43): Show c.1115-696_1115-695insATATATATATATTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	252	0.0040	26	c.111 others(43): Show c.1115-721_1115-696dupATATATATATATATATATATATATAT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp2 HG03927.hp2 HG03098.hp1 HG03098.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0004 a0001c0002t0004 a0001c0005t0004 a0001c0001t0004 a0001c0002t0004 a0001c0005t0004	a0001c0001t0004g0173 a0001c0002t0004g0183 a0001c0005t0004g0049 a0001c0001t0004g0173 a0001c0002t0004g0183 a0001c0005t0004g0049	3	256	0.0117	26	c.199 others(47): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA AA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106909355	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18954.hp1 NA19011.hp2 HG02132.hp1 NA18954.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0072 a0001c0001t0001 a0001c0001t0002 a0001c0001t0072	a0001c0001t0001g0092 a0001c0001t0002g0099 a0001c0001t0072g0091 a0001c0001t0001g0092 a0001c0001t0002g0099 a0001c0001t0072g0091	3	256	0.0117	26	c.120 others(47): Show c.1206+30079_1206+30104dupCACACACACACACACACACACACA CA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GULP1_chr2_188286874_188600926	188352618	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	162	0.0062	26	c.-17 others(47): Show c.-171-31139_-171-31114dupACACACACACACACACACACACAC AC	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(19): Show CACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp2 NA18940.hp2 others(2): Show HG01074.hp2 HG01169.hp2 NA18940.hp2 NA18983.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0030 a0001c0001t0003 a0001c0001t0010 a0001c0001t0030	a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0011 others(2): Show a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0010g0022 a0001c0001t0030g0006	5	162	0.0309	26	c.-17 others(47): Show c.-171-31114_-171-31113insACACACACACACACACACACACAC AT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
GULP1_chr2_188286874_188600926	188368939	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	162	0.0062	26	c.-17 others(47): Show c.-171-14810_-171-14785dupATATATATATATATATATATATAT AT	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(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG01243.hp1 others(19): Show HG00099.hp2 HG01074.hp1 HG01243.hp1 HG01934.hp1 HG01943.hp1 HG02148.hp1 HG02280.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03927.hp2 HG03942.hp1 NA18952.hp2 NA18969.hp1 NA18974.hp2 NA18984.hp2 NA18988.hp2 NA18990.hp2 NA19011.hp2 NA19043.hp1 NA19060.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0001t0014 a0001c0002t0003 others(4): Show a0001c0001t0009 a0001c0001t0014 a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0001c0003t0001 a0001c0003t0013	a0001c0001t0009g0256 a0001c0001t0014g0229 a0001c0001t0014g0236 others(19): Show a0001c0001t0009g0256 a0001c0001t0014g0229 a0001c0001t0014g0236 a0001c0002t0003g0102 a0001c0002t0003g0162 a0001c0002t0003g0171 a0001c0002t0003g0187 a0001c0002t0003g0198 a0001c0002t0004g0071 a0001c0002t0015g0200 a0001c0003t0001g0108 a0001c0003t0001g0115 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0145 a0001c0003t0001g0147 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0204 a0001c0003t0013g0151	22	398	0.0553	26	c.865 others(41): Show c.865-728_865-727insATATATATATATATATATATATATAT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	5/7			chr12	TogoVar
GYG1_chr3_148986540_149036775	149022498	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0336 a0001c0003t0004g0337 a0001c0003t0004g0336 a0001c0003t0004g0337	2	414	0.0048	26	c.609 others(43): Show c.609-1537_609-1536insTTTTTTTTTTTTTTTTTTTTTTTTTT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GYG2_chrX_2823930_2887818	2844532	A A	ATATATGT others(19): Show ATATATGTGTATACGCACACGCATGCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01169.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG01169.hp2 HG01261.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0009 a0002c0002t0001 a0006c0008t0006 a0001c0001t0009 a0002c0002t0001 a0006c0008t0006	a0001c0001t0009g0266 a0002c0002t0001g0123 a0002c0002t0001g0124 others(1): Show a0001c0001t0009g0266 a0002c0002t0001g0123 a0002c0002t0001g0124 a0006c0008t0006g0009	4	316	0.0127	26	c.149 others(43): Show c.149+1381_149+1406dupCATGCGTATATGTGTATACGCACACG	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2844729	C C	CACACGCA others(19): Show CACACGCATGCGTATATGTGTATACGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19010.hp2 NA18947.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0003 a0001c0001t0001 a0001c0016t0003	a0001c0001t0001g0267 a0001c0016t0003g0233 a0001c0001t0001g0267 a0001c0016t0003g0233	2	316	0.0063	26	c.149 others(43): Show c.149+1400_149+1401insTACACGCATGCGTATATGTGTATACG	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2844755	C C	CACACGCA others(19): Show CACACGCATGCGTATATGTGTATACGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(72): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01256.hp1 HG01257.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18957.hp1 NA18961.hp1 NA18981.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA19001.hp1 NA19003.hp1 NA19056.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0002c0002 a0004c0009 others(2): Show a0001c0001 a0002c0002 a0004c0009 a0008c0020 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 a0002c0002t0013 a0002c0002t0016 a0002c0002t0020 a0004c0009t0001 a0008c0020t0003 a0010c0015t0001	a0001c0001t0001g0004 a0001c0001t0001g0182 a0001c0001t0001g0198 others(71): Show a0001c0001t0001g0004 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0271 a0001c0001t0002g0276 a0001c0001t0003g0053 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0218 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0295 a0001c0001t0004g0012 a0001c0001t0004g0225 a0001c0001t0004g0230 a0001c0001t0004g0246 a0001c0001t0007g0191 a0001c0001t0007g0221 a0001c0001t0009g0270 a0001c0001t0011g0056 a0001c0001t0011g0072 a0001c0001t0015g0046 a0002c0002t0001g0008 a0002c0002t0001g0186 a0002c0002t0001g0229 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0277 a0002c0002t0001g0308 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0253 a0002c0002t0002g0257 a0002c0002t0004g0215 a0002c0002t0004g0265 a0002c0002t0004g0302 a0002c0002t0005g0201 a0002c0002t0005g0296 a0002c0002t0007g0193 a0002c0002t0008g0219 a0002c0002t0012g0066 a0002c0002t0012g0067 a0002c0002t0013g0311 a0002c0002t0016g0272 a0002c0002t0020g0255 a0004c0009t0001g0060 a0008c0020t0003g0007 a0010c0015t0001g0138	75	316	0.2373	26	c.149 others(43): Show c.149+1406_149+1407insCATGCGTATATGTGTATACGTACACG	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GZMK_chr5_55019256_55039570	55022321	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01981.hp2 others(4): Show HG00099.hp2 HG00280.hp1 HG01981.hp2 HG02148.hp1 HG02165.hp2 HG02523.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0023 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0002g0007	7	464	0.0151	26	c.-20 others(37): Show c.-2002_-2001insCACACACACACACACACACACACACA	GZMK	ENSG00000113088.6	transcript	ENST00000231009.3	protein_coding		1934		chr5	TogoVar
H2AC16_chr6_27860317_27870798	27869580	T T	TGAGCCAA others(19): Show TGAGCCAATTACACAACTCAGTGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	374	0.0027	26	c.38 others(37): Show c.3833_*3834insGAGCCAATTACACAACTCAGTGTATG	H2AC16	ENSG00000276903.2	transcript	ENST00000613174.2	protein_coding		3783		chr6	TogoVar
H2AC4_chr6_26028092_26038618	26031152	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01952.hp1 HG02040.hp2 others(16): Show HG00558.hp2 HG01952.hp1 HG02040.hp2 HG02056.hp1 HG02132.hp1 HG02698.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03669.hp1 HG04115.hp1 NA19002.hp2 NA19007.hp2 NA19057.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0002t0001g0000	19	406	0.0468	26	c.20 others(37): Show c.2023_*2024insTATATATATATATATATATATATATA	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1939		chr6	TogoVar
H3-3A_chr1_226057716_226077019	226074979	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	434	0.0023	26	c.35 others(37): Show c.3500_*3501insTTTTTTTTTTTTTTTTTTTTTTTTTT	H3-3A	ENSG00000163041.13	transcript	ENST00000366815.10	protein_coding		2961		chr1	TogoVar
H3C2_chr6_26026589_26037099	26031152	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01952.hp2 HG02040.hp1 others(17): Show HG00558.hp2 HG01952.hp2 HG02040.hp1 HG02056.hp1 HG02132.hp1 HG02698.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03669.hp1 HG04115.hp1 NA19002.hp2 NA19007.hp2 NA19057.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	20	396	0.0505	26	c.49 others(35): Show c.497_*498insTATATATATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		436		chr6	TogoVar
H3Y1_chr5_17649868_17660849	17651922	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02976.hp1 others(1): Show HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0011 a0001c0002 a0004c0011	a0001c0002t0002 a0004c0011t0002 a0001c0002t0002 a0004c0011t0002	a0001c0002t0002g0000 a0004c0011t0002g0000 a0001c0002t0002g0000 a0004c0011t0002g0000	4	376	0.0106	26	c.32 others(37): Show c.3205_*3206insAAGAAAGAAAGAAAGAAAGAAAGAAA	H3Y1	ENSG00000269466.4	transcript	ENST00000598383.3	protein_coding		2945		chr5	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01109.hp2 NA18941.hp2 others(6): Show HG00741.hp1 HG01109.hp2 NA18941.hp2 NA18964.hp2 NA18985.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	9	400	0.0225	26	c.-16 others(37): Show c.-1618_-1617insATATATATATATATATATATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
H4C12_chr6_27826174_27836560	27832868	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	26	c.-13 others(37): Show c.-1342_-1341insAAAAAAAAAAAAAAAAAAAAAAAAAA	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		1309		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827865	T T	TTTCTTTC others(19): Show TTTCTTTCTTTCTTTCTTTCTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 NA18612.hp2 NA18969.hp2 others(1): Show HG02004.hp1 NA18612.hp2 NA18969.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	236	0.0170	26	c.-48 others(37): Show c.-4820_-4819insTTCTTTCTTTCTTTCTTTCTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4791		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031152	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp2 others(20): Show HG00423.hp1 HG00423.hp2 HG00558.hp2 HG01952.hp2 HG02040.hp1 HG02056.hp1 HG02132.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03669.hp2 HG04115.hp2 NA18939.hp1 NA18939.hp2 NA18965.hp1 NA18972.hp2 NA19002.hp2 NA19007.hp1 NA19057.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0011	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0007t0002 a0002c0011t0002	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0002g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0002g0000 a0001c0007t0002g0000 a0002c0011t0002g0000	23	400	0.0575	26	c.-39 others(37): Show c.-3901_-3900insTATATATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3870		chr6	TogoVar
HACD2_chr3_123486554_123590053	123534798	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0336 a0001c0003t0010g0337 a0001c0003t0010g0336 a0001c0003t0010g0337	2	350	0.0057	26	c.293 others(43): Show c.293-6325_293-6324insCACACACACACACACACACACACACA	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123570917	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0291 a0001c0003t0003g0291	1	350	0.0029	26	c.274 others(43): Show c.274-3163_274-3138dupGTGTGTGTGTGTGTGTGTGTGTGTGT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123577040	T T	TCAATTCC others(19): Show TCAATTCCAGGACACGATCAGAAATGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	350	0.0029	26	c.273 others(43): Show c.273+5146_273+5171dupTCATTTCTGATCGTGTCCTGGAATTG	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6			chr3	TogoVar
HACE1_chr6_104723094_104864919	104811238	T T	TTATACAT others(19): Show TTATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	346	0.0029	26	c.617 others(39): Show c.617+72_617+73insTATATATATATATATATATATGTATA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	7/23			chr6	TogoVar
HAO1_chr20_7877985_7945458	7909381	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	348	0.0029	26	c.546 others(43): Show c.546-3053_546-3052insCATATATATATATATATATATATATA	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO1_chr20_7877985_7945458	7936503	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02698.hp1 HG03540.hp2 others(6): Show HG02280.hp2 HG02698.hp1 HG03540.hp2 HG03669.hp2 NA18906.hp1 NA18952.hp1 NA18982.hp2 NA18986.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 others(6): Show a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0320 a0001c0001t0001g0334 a0001c0001t0002g0217 a0001c0001t0002g0219	9	348	0.0259	26	c.138 others(43): Show c.138-1894_138-1869dupACACACACACACACACACACACACAC	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	1/7			chr20	TogoVar
HAPLN3_chr15_88872294_88900544	88897512	T T	TGCGGCCC others(19): Show TGCGGCCCCACCTCCTGCTGCTCAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02615.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	2	436	0.0046	26	c.-21 others(37): Show c.-2102_-2101insCTCTGAGCAGCAGGAGGTGGGGCCGC	HAPLN3	ENSG00000140511.12	transcript	ENST00000359595.8	protein_coding		1969		chr15	TogoVar
HAPLN3_chr15_88872294_88900544	88897514	T T	TGGCCCCA others(19): Show TGGCCCCACCTCCTGCTGCTCAGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02486.hp1 others(3): Show HG01109.hp2 HG02258.hp1 HG02486.hp1 HG02647.hp1 NA18522.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0002	a0001c0001t0001g0141 a0001c0002t0001g0179 a0001c0002t0001g0236 others(3): Show a0001c0001t0001g0141 a0001c0002t0001g0179 a0001c0002t0001g0236 a0001c0003t0001g0018 a0001c0004t0002g0209 a0001c0004t0002g0210	6	436	0.0138	26	c.-21 others(37): Show c.-2104_-2103insGCCTCTGAGCAGCAGGAGGTGGGGCC	HAPLN3	ENSG00000140511.12	transcript	ENST00000359595.8	protein_coding		1971		chr15	TogoVar

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