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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
UBXN11_chr1_26277282_26311636	26282320	TCCAGGAC others(17): Show TCCAGGACAGGGACTGGGGCCGGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18973.hp1 NA18979.hp1 NA18984.hp2 NA18989.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0006 a0013 others(1): Show a0001 a0006 a0013 a0014	a0001c0002 a0001c0005 a0001c0009 others(6): Show a0001c0002 a0001c0005 a0001c0009 a0001c0010 a0001c0017 a0001c0024 a0006c0007 a0013c0030 a0014c0023	a0001c0002t0001 a0001c0002t0002 a0001c0005t0002 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0002 a0001c0009t0001 a0001c0010t0001 a0001c0017t0001 a0001c0024t0001 a0006c0007t0002 a0013c0030t0002 a0014c0023t0002	a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0017 others(76): Show a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0166 a0001c0002t0001g0175 a0001c0002t0001g0180 a0001c0002t0002g0002 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0124 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0135 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0002g0156 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0168 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0225 a0001c0005t0002g0007 a0001c0005t0002g0027 a0001c0005t0002g0169 a0001c0005t0002g0170 a0001c0005t0002g0171 a0001c0005t0002g0172 a0001c0005t0002g0173 a0001c0005t0002g0174 a0001c0009t0001g0184 a0001c0009t0001g0185 a0001c0009t0001g0186 a0001c0010t0001g0102 a0001c0010t0001g0105 a0001c0017t0001g0137 a0001c0024t0001g0198 a0006c0007t0002g0024 a0006c0007t0002g0140 a0006c0007t0002g0167 a0013c0030t0002g0125 a0014c0023t0002g0155	137	365	0.3753	-24	c.151 others(33): Show c.1518_1541delTCCCGGCCCCAGTCCCTGTCCTGG	p.Pro others(13): Show p.Pro507_Gly514del	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1621/1660	1518/1563	506/520			chr1	TogoVar
UBXN11_chr1_26277282_26311636	26282328	AGGGACTG others(17): Show AGGGACTGGGGCCGGGACCGGGACC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp2 HG02809.hp2 HG02818.hp2 others(5): Show HG00408.hp2 HG02809.hp2 HG02818.hp2 HG04228.hp1 NA18985.hp2 NA19060.hp1 NA19070.hp1 NA19091.hp1	a0002 a0007 a0002 a0007	a0002c0001 a0007c0014 a0002c0001 a0007c0014	a0002c0001t0001 a0007c0014t0001 a0002c0001t0001 a0007c0014t0001	a0002c0001t0001g0001 a0002c0001t0001g0011 a0002c0001t0001g0063 others(3): Show a0002c0001t0001g0001 a0002c0001t0001g0011 a0002c0001t0001g0063 a0002c0001t0001g0067 a0002c0001t0001g0096 a0007c0014t0001g0183	8	270	0.0296	-24	c.151 others(33): Show c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	p.Gly others(13): Show p.Gly504_Pro511del	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1613/1660	1510/1563	504/520			chr1	TogoVar
UBXN2A_chr2_23935463_24009909	23951413	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01070.hp1 others(13): Show HG00642.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01517.hp1 HG01891.hp1 HG02080.hp1 HG02572.hp2 HG02818.hp1 HG02895.hp2 HG03540.hp2 HG03579.hp2 NA18984.hp1 NA18993.hp2 NA19004.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0034	a0001c0001t0001g0004 a0001c0001t0001g0088 a0001c0001t0001g0089 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0017g0078 a0001c0001t0034g0081	16	37	0.4324	-24	c.-14 others(41): Show c.-14-6860_-14-6837delTATATATATATATATATATATATA		UBXN2A	ENSG00000173960.14	transcript	ENST00000309033.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
UCHL3_chr13_75544791_75611020	75592415	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	220	0.0091	-24	c.475 others(41): Show c.475-2471_475-2448delATATATATATATATATATATATAT		UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
UCMA_chr10_13216766_13239374	13217206	GACCCAGG others(17): Show GACCCAGGAGGGACTACCTTTCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	462	0.0022	-24	c.48 others(35): Show c.4873_*4896delGCAGAAAGGTAGTCCCTCCTGGGT		UCMA	ENSG00000165623.10	transcript	ENST00000378681.8	protein_coding					4559		chr10	TogoVar
UCN2_chr3_48556718_48568781	48559898	CCACACAC others(17): Show CCACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	41	0.0244	-24	c.28 others(35): Show c.2864_*2887delTGTGTGTGTGTGTGTGTGTGTGTG		UCN2	ENSG00000145040.4	transcript	ENST00000273610.4	protein_coding					1819		chr3	TogoVar
UCN3_chr10_5359966_5379692	5370824	CGCGCGTG others(17): Show CGCGCGTGTGTGTGCGCGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	272	0.0037	-24	c.-6- others(39): Show c.-6-2875_-6-2852delCGTGTGTGTGCGCGTGTGTGTGCG		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370862	CGTGTGTA others(17): Show CGTGTGTATGTGTGTGTATATGCGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0292 a0001c0001t0006g0292	1	385	0.0026	-24	c.-6- others(39): Show c.-6-2848_-6-2825delGTATGTGTGTGTATATGCGTGTGT		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370872	TGTGTGTA others(17): Show TGTGTGTATATGCGTGTGTATATGC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19054.hp1 HG02148.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0286 a0001c0001t0001g0196 a0001c0001t0001g0286	2	248	0.0081	-24	c.-6- others(39): Show c.-6-2807_-6-2784delCGTGTGTATATGCGTGTGTATATG		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
UCP2_chr11_73969672_73987843	73986518	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03098.hp1 HG01884.hp2 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0008 a0002c0002t0001 a0002c0003t0008	a0002c0002t0001g0025 a0002c0003t0008g0010 a0002c0002t0001g0025 a0002c0003t0008g0010	2	129	0.0155	-24	c.-40 others(35): Show c.-4078_-4055delAAAAAAAAAAAAAAAAAAAAAAAA		UCP2	ENSG00000175567.11	transcript	ENST00000663595.2	protein_coding					3676		chr11	TogoVar
UEVLD_chr11_18524609_18593734	18528363	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	368	0.0027	-24	c.39 others(35): Show c.3933_*3956delAAAAAAAAAATATATATATATATA		UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding					1245		chr11	TogoVar
UEVLD_chr11_18524609_18593734	18560116	CACACACA others(17): Show CACACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	398	0.0025	-24	c.613 others(41): Show c.613-1810_613-1787delCTGTGTGTGTGTGTGTGTGTGTGT		UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11						chr11	TogoVar
UGCG_chr9_111891814_111940369	111911905	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp2 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0367 a0001c0001t0025g0368 a0001c0001t0025g0367 a0001c0001t0025g0368	2	152	0.0132	-24	c.99- others(39): Show c.99-2671_99-2648delATATATATATATATATATATATAT		UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT1_chr2_128086200_128200677	128169048	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00621.hp1 others(66): Show HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01192.hp2 HG01346.hp1 HG01496.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp2 HG02735.hp2 HG02738.hp1 HG03491.hp1 HG03669.hp2 HG03704.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18974.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19083.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20752.hp2 NA20905.hp1	a0001 a0003 a0010 others(2): Show a0001 a0003 a0010 a0013 a0014	a0001c0001 a0001c0003 a0001c0017 others(5): Show a0001c0001 a0001c0003 a0001c0017 a0001c0019 a0003c0006 a0010c0013 a0013c0023 a0014c0020	a0001c0001t0001 a0001c0003t0002 a0001c0003t0007 others(17): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0014 a0001c0003t0027 a0001c0003t0028 a0001c0003t0034 a0001c0003t0035 a0001c0003t0036 a0001c0003t0039 a0001c0003t0041 a0001c0003t0044 a0001c0003t0066 a0001c0017t0007 a0001c0019t0038 a0003c0006t0002 a0003c0006t0007 a0010c0013t0002 a0013c0023t0002 a0014c0020t0002	a0001c0001t0001g0002 a0001c0003t0002g0001 a0001c0003t0002g0159 others(66): Show a0001c0001t0001g0002 a0001c0003t0002g0001 a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0165 a0001c0003t0002g0166 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0176 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0204 a0001c0003t0002g0206 a0001c0003t0002g0207 a0001c0003t0002g0209 a0001c0003t0002g0211 a0001c0003t0002g0212 a0001c0003t0002g0214 a0001c0003t0002g0216 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0223 a0001c0003t0002g0228 a0001c0003t0002g0230 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0007g0164 a0001c0003t0007g0167 a0001c0003t0007g0175 a0001c0003t0007g0185 a0001c0003t0007g0187 a0001c0003t0007g0193 a0001c0003t0007g0208 a0001c0003t0007g0210 a0001c0003t0007g0220 a0001c0003t0007g0225 a0001c0003t0007g0229 a0001c0003t0014g0174 a0001c0003t0014g0217 a0001c0003t0014g0218 a0001c0003t0027g0194 a0001c0003t0028g0219 a0001c0003t0034g0178 a0001c0003t0035g0205 a0001c0003t0036g0158 a0001c0003t0039g0213 a0001c0003t0041g0170 a0001c0003t0044g0189 a0001c0003t0066g0179 a0001c0017t0007g0227 a0001c0019t0038g0177 a0003c0006t0002g0180 a0003c0006t0002g0197 a0003c0006t0007g0191 a0010c0013t0002g0215 a0013c0023t0002g0224 a0014c0020t0002g0186	69	94	0.7340	-24	c.292 others(43): Show c.2922-1220_2922-1197delAAAAAAAAAAAAAAAAAAAAAAAA		UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	26/40					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233725264	GGAGGCAG others(17): Show GGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	159	0.0063	-24	c.856 others(43): Show c.856-41740_856-41717delAGAGGCAGAGGCAGAGGCAGAGGC		UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233757538	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	410	0.0024	-24	c.-27 others(35): Show c.-2749_-2726delTATATATATATATATATATATATG		UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding					2731		chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233725264	GGAGGCAG others(17): Show GGAGGCAGAGGCAGAGGCAGAGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	182	0.0055	-24	c.-38 others(35): Show c.-3862_-3839delGAGGCAGAGGCAGAGGCAGAGGCA		UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding					3777		chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233757538	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	348	0.0029	-24	c.868 others(41): Show c.868-9488_868-9465delATATATATATATATATGTATATAT		UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725264	GGAGGCAG others(17): Show GGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	176	0.0057	-24	c.867 others(41): Show c.867+5607_867+5630delAGAGGCAGAGGCAGAGGCAGAGGC		UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233757538	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	330	0.0030	-24	c.868 others(41): Show c.868-9488_868-9465delATATATATATATATATGTATATAT		UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233725264	GGAGGCAG others(17): Show GGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	174	0.0057	-24	c.867 others(43): Show c.867+11436_867+11459delAGAGGCAGAGGCAGAGGCAGAGGC		UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233757538	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	328	0.0030	-24	c.868 others(41): Show c.868-9488_868-9465delATATATATATATATATGTATATAT		UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233725264	GGAGGCAG others(17): Show GGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	177	0.0056	-24	c.861 others(43): Show c.861+31429_861+31452delAGAGGCAGAGGCAGAGGCAGAGGC		UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233757538	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	330	0.0030	-24	c.862 others(41): Show c.862-9488_862-9465delATATATATATATATATGTATATAT		UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725264	GGAGGCAG others(17): Show GGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	171	0.0058	-24	c.856 others(43): Show c.856-41740_856-41717delAGAGGCAGAGGCAGAGGCAGAGGC		UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233725264	GGAGGCAG others(17): Show GGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	155	0.0065	-24	c.856 others(43): Show c.856-41740_856-41717delAGAGGCAGAGGCAGAGGCAGAGGC		UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725264	GGAGGCAG others(17): Show GGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	167	0.0060	-24	c.856 others(43): Show c.856-41740_856-41717delAGAGGCAGAGGCAGAGGCAGAGGC		UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT2A3_chr4_68923463_68956804	68935272	GTATGTAT others(17): Show GTATGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01884.hp1 others(26): Show HG01109.hp2 HG01243.hp2 HG01884.hp1 HG01934.hp2 HG02109.hp2 HG02135.hp2 HG02155.hp1 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG03579.hp1 HG04184.hp2 NA18944.hp1 NA18948.hp1 NA18955.hp2 NA18963.hp2 NA18968.hp1 NA18971.hp1 NA18979.hp1 NA18990.hp1 NA18998.hp1 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19066.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0016 a0002c0001t0001g0060 others(13): Show a0002c0001t0001g0002 a0002c0001t0001g0016 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0285 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0001g0288 a0002c0001t0001g0289 a0002c0001t0001g0291 a0002c0001t0001g0292 a0002c0001t0001g0293	29	278	0.1043	-24	c.865 others(41): Show c.865-2537_865-2514delTATATATATATATATATATACATA		UGT2A3	ENSG00000135220.11	transcript	ENST00000251566.9	protein_coding	2/5						chr4	TogoVar
UGT8_chr4_114593807_114683225	114611403	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(78): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp2 HG02258.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG03017.hp1 HG03239.hp2 HG03486.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 NA18612.hp1 NA18939.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18991.hp2 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19063.hp2 NA19067.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19086.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0004 a0001c0001 a0001c0011 a0003c0004	a0001c0001t0001 a0001c0001t0010 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0011t0001 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(73): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0010g0003 a0001c0001t0010g0052 a0001c0011t0001g0048 a0003c0004t0001g0007 a0003c0004t0001g0047 a0003c0004t0001g0095	81	165	0.4909	-24	c.-2- others(41): Show c.-2-11456_-2-11433delTATATATATATATATATATATATA		UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03471.hp2 HG03654.hp1 others(5): Show HG02135.hp1 HG03471.hp2 HG03654.hp1 HG06807.hp1 NA18522.hp2 NA18990.hp2 NA19043.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0147 others(5): Show a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0224	8	11	0.7273	-24	c.149 others(43): Show c.1497+1359_1497+1382delAAAAAAAAAAAAAAAAAAAAAAAA		UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
UIMC1_chr5_176900006_177011779	176982095	CAGATGGC others(17): Show CAGATGGCTAGGTGCTATTATATGT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	328	0.0030	-24	c.147 others(39): Show c.147+350_147+373delACATATAATAGCACCTAGCCATCT		UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	2/14						chr5	TogoVar
ULK4_chr3_41241599_41967103	41300837	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG02451.hp1 HG02895.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0005c0013t0002 a0001c0001t0001 a0005c0013t0002	a0001c0001t0001g0026 a0005c0013t0002g0016 a0001c0001t0001g0026 a0005c0013t0002g0016	2	19	0.1053	-24	c.367 others(45): Show c.3679-51287_3679-51264delTATATATATATATATATATATATA		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41901018	TTCCCATT others(17): Show TTCCCATTTTACAGATAAAAATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0059 a0003c0003t0001g0059	1	70	0.0143	-24	c.118 others(41): Show c.1183-213_1183-190delTATATTTTTATCTGTAAAATGGGA		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	12/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41917988	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG02165.hp2 others(1): Show HG00621.hp2 HG00735.hp1 HG02165.hp2 HG02976.hp2	a0007 a0017 a0007 a0017	a0007c0005 a0017c0012 a0007c0005 a0017c0012	a0007c0005t0001 a0017c0012t0001 a0007c0005t0001 a0017c0012t0001	a0007c0005t0001g0064 a0007c0005t0001g0065 a0007c0005t0001g0066 others(1): Show a0007c0005t0001g0064 a0007c0005t0001g0065 a0007c0005t0001g0066 a0017c0012t0001g0063	4	19	0.2105	-24	c.727 others(39): Show c.727+445_727+468delATTTATTTATTTATTTATTTATTT		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	7/36						chr3	TogoVar
UMAD1_chr7_7635752_7884223	7673310	TAGCAGCA others(17): Show TAGCAGCAGCAGCAGCAGCAGCAGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG03486.hp1 others(1): Show HG02630.hp1 HG02976.hp2 HG03486.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 others(1): Show a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078	a0001c0001t0075g0016 a0001c0001t0076g0218 a0001c0001t0077g0180 others(1): Show a0001c0001t0075g0016 a0001c0001t0076g0218 a0001c0001t0077g0180 a0001c0001t0078g0149	4	43	0.0930	-24	c.-24 others(30): Show c.-24_-1delGCAGCAGCAGCAGCAGCAGCAGCA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/4				1	INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7778226	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0078 a0001c0001t0053 a0001c0001t0078	a0001c0001t0053g0021 a0001c0001t0078g0149 a0001c0001t0053g0021 a0001c0001t0078g0149	2	130	0.0154	-24	c.83- others(41): Show c.83-23417_83-23394delTGTGTGTGTGTGTGTGTGTGTGTG		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7835462	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02717.hp1 HG01081.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0059 a0001c0002t0073 a0001c0001t0059 a0001c0002t0073	a0001c0001t0059g0157 a0001c0002t0073g0241 a0001c0001t0059g0157 a0001c0002t0073g0241	2	23	0.0870	-24	c.156 others(43): Show c.156+33734_156+33757delTTTTTTTTTTTTTTTTTTTTTTTT		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847100	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18968.hp1 NA18999.hp2 HG00438.hp2 NA18968.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0030 a0001c0001t0070 a0001c0001t0004 a0001c0001t0030 a0001c0001t0070	a0001c0001t0004g0169 a0001c0001t0030g0248 a0001c0001t0070g0074 a0001c0001t0004g0169 a0001c0001t0030g0248 a0001c0001t0070g0074	3	229	0.0131	-24	c.157 others(43): Show c.157-30179_157-30156delAAAATATATATATATATATATATA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847102	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18959.hp1 HG01256.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0033 a0001c0001t0007 a0001c0001t0033	a0001c0001t0007g0105 a0001c0001t0033g0204 a0001c0001t0007g0105 a0001c0001t0033g0204	2	217	0.0092	-24	c.157 others(43): Show c.157-30177_157-30154delAATATATATATATATATATATATA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847104	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	200	0.0050	-24	c.157 others(43): Show c.157-30150_157-30127delATATATATATATATATATATATAT		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42077002	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02723.hp1 others(1): Show HG01109.hp2 HG02145.hp2 HG02723.hp1 HG03139.hp2	a0005 a0013 a0005 a0013	a0005c0019 a0013c0029 a0005c0019 a0013c0029	a0005c0019t0027 a0013c0029t0001 a0005c0019t0027 a0013c0029t0001	a0005c0019t0027g0362 a0013c0029t0001g0380 a0013c0029t0001g0381 others(1): Show a0005c0019t0027g0362 a0013c0029t0001g0380 a0013c0029t0001g0381 a0013c0029t0001g0382	4	35	0.1143	-24	c.319 others(39): Show c.319+797_319+820delTGTGTGTGTGTGTGTGTGTGTGTG		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42133889	TTTTGTTT others(17): Show TTTTGTTTTGTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03540.hp2 HG01891.hp2 HG03540.hp2	a0010 a0071 a0010 a0071	a0010c0057 a0071c0105 a0010c0057 a0071c0105	a0010c0057t0019 a0071c0105t0019 a0010c0057t0019 a0071c0105t0019	a0010c0057t0019g0369 a0071c0105t0019g0083 a0010c0057t0019g0369 a0071c0105t0019g0083	2	398	0.0050	-24	c.377 others(43): Show c.3776-3546_3776-3523delGTTTTGTTTTGTTTTGTTTTGTTT		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMPS_chr3_124725452_124754273	124745783	GTTGGAGT others(17): Show GTTGGAGTGATATGTTGAGAGGCCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0113 a0001c0001t0085g0113	1	432	0.0023	-24	c.17 others(35): Show c.1710_*1733delATGTTGAGAGGCCTTTGGAGTGAT		UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	6/6				1710	INFO_REALIGN_3_PRIME	chr3	TogoVar
UNC13B_chr9_35157009_35410335	35228703	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG03130.hp2 others(1): Show HG02622.hp2 HG02630.hp1 HG03130.hp2 NA20300.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0175 a0002c0011t0001g0177 a0002c0011t0001g0178 others(1): Show a0002c0011t0001g0175 a0002c0011t0001g0177 a0002c0011t0001g0178 a0002c0011t0001g0179	4	20	0.2000	-24	c.52+ others(37): Show c.52+682_52+705delGTGTGTGTGTGTGTGTGTGTGTGT		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	2/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35328646	TCCTTCCT others(17): Show TCCTTCCTTCCTTCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03540.hp1 HG03942.hp2 others(1): Show HG03098.hp2 HG03540.hp1 HG03942.hp2 NA18942.hp2	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0002 a0006c0008 a0007c0009 a0003c0002 a0006c0008 a0007c0009	a0003c0002t0001 a0006c0008t0002 a0007c0009t0001 a0003c0002t0001 a0006c0008t0002 a0007c0009t0001	a0003c0002t0001g0014 a0003c0002t0001g0056 a0006c0008t0002g0003 others(1): Show a0003c0002t0001g0014 a0003c0002t0001g0056 a0006c0008t0002g0003 a0007c0009t0001g0191	4	219	0.0183	-24	c.941 others(45): Show c.9414+14668_9414+14691delTTCCTTCCTCCCTCCCTTCCTTCC		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35371514	CTTCATCT others(17): Show CTTCATCTAGCTGGTTGAAGATAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG03130.hp2 others(1): Show HG02622.hp2 HG02630.hp1 HG03130.hp2 NA20300.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0175 a0002c0011t0001g0177 a0002c0011t0001g0178 others(1): Show a0002c0011t0001g0175 a0002c0011t0001g0177 a0002c0011t0001g0178 a0002c0011t0001g0179	4	222	0.0180	-24	c.954 others(43): Show c.9540+1122_9540+1145delATCTAGCTGGTTGAAGATAAATTC		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54172703	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01884.hp2 others(8): Show HG01109.hp2 HG01123.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG02622.hp1 HG02630.hp1 HG02922.hp2 HG03139.hp2 HG03471.hp2 NA18964.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0032 a0001c0041 a0009c0028	a0001c0001t0007 a0001c0001t0057 a0001c0002t0008 others(7): Show a0001c0001t0007 a0001c0001t0057 a0001c0002t0008 a0001c0002t0020 a0001c0002t0024 a0001c0002t0060 a0001c0003t0009 a0001c0032t0004 a0001c0041t0025 a0009c0028t0019	a0001c0001t0007g0006 a0001c0001t0007g0152 a0001c0001t0057g0145 others(8): Show a0001c0001t0007g0006 a0001c0001t0007g0152 a0001c0001t0057g0145 a0001c0002t0008g0081 a0001c0002t0020g0020 a0001c0002t0024g0116 a0001c0002t0060g0146 a0001c0003t0009g0114 a0001c0032t0004g0056 a0001c0041t0025g0156 a0009c0028t0019g0008	11	19	0.5789	-24	c.307 others(45): Show c.3071+29054_3071+29077delATATATATATATATATATATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54280711	TATACATA others(17): Show TATACATATATAAACATATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00738.hp1 others(6): Show HG00099.hp1 HG00423.hp1 HG00738.hp1 HG01358.hp1 HG01361.hp1 HG02300.hp1 HG02602.hp2 HG03492.hp2 HG03654.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0004c0009 a0004c0026	a0001c0001t0001 a0001c0001t0038 a0001c0002t0006 others(6): Show a0001c0001t0001 a0001c0001t0038 a0001c0002t0006 a0001c0002t0009 a0001c0002t0034 a0001c0003t0005 a0001c0003t0039 a0004c0009t0005 a0004c0026t0001	a0001c0001t0001g0044 a0001c0001t0038g0100 a0001c0002t0006g0112 others(6): Show a0001c0001t0001g0044 a0001c0001t0038g0100 a0001c0002t0006g0112 a0001c0002t0009g0133 a0001c0002t0034g0079 a0001c0003t0005g0128 a0001c0003t0039g0101 a0004c0009t0005g0132 a0004c0026t0001g0022	9	153	0.0588	-24	c.381 others(45): Show c.3819-13172_3819-13149delAACATATGTATACATACATATATA		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	10/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176805961	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 NA18971.hp1 HG01071.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0002g0148 a0001c0001t0001g0032 a0001c0001t0002g0148	2	261	0.0077	-24	c.-47 others(35): Show c.-4789_-4766delGAAAGAAAGAAAGAAAGAAAGAAG		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding					4597		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176805981	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	128	0.0078	-24	c.-47 others(35): Show c.-4769_-4746delGAAGGAAGGAAGGAAGGAAGGAAG		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding					4577		chr5	TogoVar

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