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
TYMS_chr18_652653_678578	667280	GGATGGTG others(25): Show GGATGGTGATGGAGATGGTGATGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG02300.hp1 HG01167.hp1 HG01243.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001	a0001c0001t0005g0059 a0001c0001t0008g0023 a0001c0002t0001g0333 a0001c0001t0005g0059 a0001c0001t0008g0023 a0001c0002t0001g0333	3	297	0.0101	-32	c.455 others(49): Show c.455-1791_455-1760delGATGGTGATGGAGATGGTGATGGTGATG GTGA	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6			chr18	TogoVar
TYMS_chr18_652653_678578	667440	GGTGATGG others(25): Show GGTGATGGTGATGGTGATGATGGAGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0123 a0001c0002t0005g0123	1	471	0.0021	-32	c.455 others(49): Show c.455-1630_455-1599delTGATGGTGATGGTGATGATGGAGATGGT GATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYRO3_chr15_41554212_41588589	41567300	TCCCATCT others(25): Show TCCCATCTTCCATCTCTCACAGGCTCTCCCCTA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0134 a0001c0001t0054g0134	1	322	0.0031	-32	c.784 others(45): Show c.784-58_784-27delCCATCTTCCATCTCTCACAGGCTCTCCCCTAC	TYRO3	ENSG00000092445.12	transcript	ENST00000263798.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
TYSND1_chr10_70132981_70151700	70133098	AAGAGAGA others(25): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	49	0.0204	-32	c.67 others(43): Show c.6794_*6825delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		4882		chr10	TogoVar
UAP1L1_chr9_137072517_137089538	137075863	CTATTTTT others(25): Show CTATTTTTAGTAGAGACAGGGTTTCTCCATGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0023 a0013c0014t0001g0023	1	380	0.0026	-32	c.-16 others(43): Show c.-1669_-1638delTATTTTTAGTAGAGACAGGGTTTCTCCATGTT	UAP1L1	ENSG00000197355.11	transcript	ENST00000409858.8	protein_coding		1653		chr9	TogoVar
UBAP1_chr9_34174043_34257523	34182616	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	256	0.0039	-32	c.-8+ others(47): Show c.-8+3413_-8+3444delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP2_chr9_33916693_34053887	33939841	GGGGGAGG others(25): Show GGGGGAGGAGGGGGAGGGGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02040.hp1 others(2): Show HG01070.hp2 HG01071.hp2 HG02040.hp1 HG02055.hp2 HG02451.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0015 a0001c0002 a0006c0015	a0001c0002t0001 a0006c0015t0001 a0001c0002t0001 a0006c0015t0001	a0001c0002t0001g0137 a0001c0002t0001g0223 a0001c0002t0001g0224 others(2): Show a0001c0002t0001g0137 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0259 a0006c0015t0001g0135	5	353	0.0142	-32	c.192 others(51): Show c.1929+1776_1929+1807delTCCTCCTCCTCCTCCCCCTCCCCCTC CTCCCC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34016253	AGGAGGAA others(25): Show AGGAGGAAGAGGAGGAAGAGAAGGAGGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0307 a0001c0003t0001g0307	1	354	0.0028	-32	c.99+ others(45): Show c.99+765_99+796delCCTCTTCCTCCTTCTCTTCCTCCTCTTCCTCC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	2/28			chr9	TogoVar
UBE2D2_chr5_139556339_139633434	139603849	TGAGGCAG others(25): Show TGAGGCAGGAGAATCGCTTGAACCCGGGAGGCA	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18982.hp1 NA18984.hp1 others(2): Show NA18945.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121	5	224	0.0223	-32	c.88+ others(47): Show c.88+3420_88+3451delAGGAGAATCGCTTGAACCCGGGAGGCAGAG GC	UBE2D2	ENSG00000131508.17	transcript	ENST00000398733.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2J1_chr6_89321625_89357722	89339049	AATAATAA others(25): Show AATAATAAAAGCTGTTTTTAGAAGGTGTTTTAC	A A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	408	0.0025	-32	c.238 others(47): Show c.238-538_238-507delGTAAAACACCTTCTAAAAACAGCTTTTATT AT	UBE2J1	ENSG00000198833.7	transcript	ENST00000435041.3	protein_coding	3/7			chr6	TogoVar
UBE2K_chr4_39693136_39787792	39702226	CTTTTCTT others(25): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00733.hp1 others(61): Show HG00558.hp2 HG00609.hp1 HG00733.hp1 HG00741.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02027.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18947.hp1 NA18953.hp2 NA18979.hp1 NA18983.hp2 NA18991.hp2 NA19004.hp1 NA19030.hp1 NA19043.hp2 NA19085.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017 a0001c0001t0027 a0001c0001t0029 a0001c0002t0003	a0001c0001t0003g0007 a0001c0001t0003g0110 a0001c0001t0003g0111 others(61): Show a0001c0001t0003g0007 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0171 a0001c0001t0003g0267 a0001c0001t0005g0130 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0142 a0001c0001t0005g0145 a0001c0001t0005g0153 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0159 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0268 a0001c0001t0008g0115 a0001c0001t0008g0136 a0001c0001t0008g0143 a0001c0001t0008g0172 a0001c0001t0014g0150 a0001c0001t0017g0146 a0001c0001t0027g0165 a0001c0001t0029g0119 a0001c0002t0003g0184	64	261	0.2452	-32	c.63+ others(47): Show c.63+3841_63+3872delCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39732761	TGCCTCCC others(25): Show TGCCTCCCGGGTTCAAGCAATTCTCATGCCTCA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0170 a0001c0001t0005g0170	1	334	0.0030	-32	c.64- others(47): Show c.64-4652_64-4621delCGGGTTCAAGCAATTCTCATGCCTCAGCCT CC	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE3A_chr15_25328728_25444024	25398784	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(34): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01952.hp2 HG02040.hp1 HG02083.hp2 HG02486.hp1 HG02738.hp1 HG03704.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18948.hp1 NA18951.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18994.hp1 NA18995.hp2 NA19001.hp2 NA19012.hp2 NA19054.hp1 NA19070.hp1 NA19075.hp2 NA19078.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0056 a0001c0001t0001 a0001c0001t0003 a0001c0001t0056	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(34): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0290 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0168 a0001c0001t0003g0173 a0001c0001t0003g0182 a0001c0001t0003g0213 a0001c0001t0056g0296	37	296	0.1250	-32	c.62+ others(47): Show c.62+6645_62+6676delTTATATATATATATATATATATATATATAT AT	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	4/12			chr15	TogoVar
UBL3_chr13_29759371_29855617	29788860	TGTGTGTG others(25): Show TGTGTGTGTGTGCGCGCGCGCGCGCACGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02055.hp2 HG02451.hp1 others(1): Show HG00280.hp2 HG02055.hp2 HG02451.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0250 a0001c0001t0002g0312 a0001c0001t0004g0172 others(1): Show a0001c0001t0002g0250 a0001c0001t0002g0312 a0001c0001t0004g0172 a0001c0001t0004g0231	4	389	0.0103	-32	c.28- others(49): Show c.28-11629_28-11598delGTGCGCGTGCGCGCGCGCGCGCACACAC ACAC	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29788868	TGTGCGCG others(25): Show TGTGCGCGCGCGCGCGCACGCGCACGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp2 HG02965.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0355 a0001c0001t0014g0330 a0001c0001t0001g0355 a0001c0001t0014g0330	2	383	0.0052	-32	c.28- others(49): Show c.28-11637_28-11606delGCACACACGTGCGCGTGCGCGCGCGCGC GCAC	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835083	AATATAAA others(25): Show AATATAAATATATATATATATATAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03516.hp1 HG02523.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0294 a0001c0001t0005g0346 a0001c0001t0002g0294 a0001c0001t0005g0346	2	364	0.0055	-32	c.27+ others(49): Show c.27+14397_27+14428delATATATATTTATATATATATATATATTT ATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835093	TATATATA others(25): Show TATATATATATATAAATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02132.hp2 HG02486.hp2 others(4): Show HG02015.hp1 HG02132.hp2 HG02486.hp2 HG02622.hp1 HG02818.hp1 HG02965.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0010 a0001c0001t0002g0274 a0001c0001t0002g0302 others(3): Show a0001c0001t0002g0010 a0001c0001t0002g0274 a0001c0001t0002g0302 a0001c0001t0002g0354 a0001c0001t0007g0362 a0001c0001t0007g0366	7	390	0.0179	-32	c.27+ others(49): Show c.27+14387_27+14418delTTATATATATATATATATTTATATATAT ATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835107	AATATATA others(25): Show AATATATATATATATATAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18971.hp2 HG04184.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0239 a0001c0001t0004g0170 a0001c0001t0001g0239 a0001c0001t0004g0170	2	311	0.0064	-32	c.27+ others(49): Show c.27+14373_27+14404delATATATATATATATTTATATATATATAT ATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBR2_chr6_42559029_42698505	42607643	TAGCTGGG others(25): Show TAGCTGGGAGGACAGGCATGTCCCACCACTCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(190): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18992.hp1 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0012 others(11): Show a0001c0001 a0001c0003 a0001c0012 a0002c0004 a0002c0005 a0002c0006 a0002c0019 a0003c0008 a0003c0009 a0007c0022 a0009c0023 a0010c0018 a0011c0021 a0012c0020	a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 others(21): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 a0001c0003t0003 a0001c0003t0007 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0012t0003 a0002c0004t0004 a0002c0005t0005 a0002c0005t0022 a0002c0005t0025 a0002c0006t0004 a0002c0006t0005 a0002c0019t0005 a0003c0008t0011 a0003c0008t0027 a0003c0009t0010 a0007c0022t0003 a0009c0023t0023 a0010c0018t0024 a0011c0021t0001 a0012c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0154 others(190): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0319 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0342 a0001c0001t0018g0244 a0001c0001t0019g0172 a0001c0003t0003g0007 a0001c0003t0003g0008 a0001c0003t0003g0155 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0003g0260 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0267 a0001c0003t0003g0270 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0286 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0290 a0001c0003t0003g0291 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0295 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0299 a0001c0003t0003g0300 a0001c0003t0003g0301 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0312 a0001c0003t0003g0313 a0001c0003t0003g0314 a0001c0003t0003g0315 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0003g0318 a0001c0003t0007g0259 a0001c0003t0007g0268 a0001c0003t0007g0269 a0001c0003t0007g0282 a0001c0003t0013g0276 a0001c0003t0014g0253 a0001c0003t0015g0289 a0001c0012t0003g0017 a0001c0012t0003g0309 a0002c0004t0004g0106 a0002c0004t0004g0108 a0002c0004t0004g0144 a0002c0005t0005g0014 a0002c0005t0005g0015 a0002c0005t0005g0325 a0002c0005t0005g0326 a0002c0005t0005g0327 a0002c0005t0005g0328 a0002c0005t0005g0329 a0002c0005t0005g0330 a0002c0005t0005g0331 a0002c0005t0005g0332 a0002c0005t0022g0337 a0002c0005t0025g0016 a0002c0006t0004g0206 a0002c0006t0004g0211 a0002c0006t0004g0224 a0002c0006t0005g0198 a0002c0019t0005g0307 a0003c0008t0011g0340 a0003c0008t0011g0341 a0003c0008t0027g0339 a0003c0009t0010g0099 a0003c0009t0010g0310 a0003c0009t0010g0311 a0007c0022t0003g0261 a0009c0023t0023g0001 a0010c0018t0024g0338 a0011c0021t0001g0220 a0012c0020t0001g0192	193	340	0.5676	-32	c.864 others(49): Show c.864+1030_864+1061delGGAGGACAGGCATGTCCCACCACTCCCA GCTG	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR3_chr2_169822454_170089131	170017522	GACACACA others(25): Show GACACACACACACACACACACACAGACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02486.hp1 others(2): Show HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0016 a0001c0003t0021 a0001c0003t0005 a0001c0003t0016 a0001c0003t0021	a0001c0003t0005g0247 a0001c0003t0005g0250 a0001c0003t0016g0249 others(2): Show a0001c0003t0005g0247 a0001c0003t0005g0250 a0001c0003t0016g0249 a0001c0003t0016g0257 a0001c0003t0021g0265	5	202	0.0248	-32	c.445 others(51): Show c.4453+2180_4453+2211delGACACACACACACACACACACACACA CACACA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	30/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR4_chr1_19069510_19215266	19143251	GAAGGAAG others(25): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02015.hp2 HG03490.hp1 others(10): Show HG01175.hp1 HG02015.hp2 HG03490.hp1 HG03834.hp1 NA18953.hp1 NA18962.hp1 NA18965.hp2 NA18992.hp1 NA18998.hp2 NA19007.hp1 NA19068.hp1 NA19081.hp1 NA20805.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0023c0038 a0001c0001 a0023c0038	a0001c0001t0001 a0023c0038t0001 a0001c0001t0001 a0023c0038t0001	a0001c0001t0001g0181 a0001c0001t0001g0223 a0001c0001t0001g0224 others(10): Show a0001c0001t0001g0181 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0266 a0023c0038t0001g0210	13	267	0.0487	-32	c.817 others(49): Show c.8179+697_8179+728delTCTTTCTTTCTTTCTTTCTTTCTTCCTT CCTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19143255	GAAGGAAG others(25): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	296	0.0034	-32	c.817 others(49): Show c.8179+693_8179+724delTCTTTCTTTCTTTCTTTCTTTCTTTCTT CCTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19143259	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0045 a0004c0045	a0004c0045t0001 a0004c0045t0001	a0004c0045t0001g0122 a0004c0045t0001g0122	1	185	0.0054	-32	c.817 others(49): Show c.8179+689_8179+720delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105			chr1	TogoVar
UBXN2A_chr2_23935463_24009909	23951413	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG02559.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0193 a0001c0001t0019g0214 a0001c0001t0019g0193 a0001c0001t0019g0214	2	23	0.0870	-32	c.-14 others(49): Show c.-14-6868_-14-6837delTATATATATATATATATATATATATATA TATA	UBXN2A	ENSG00000173960.14	transcript	ENST00000309033.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN3_chr10_5359966_5379692	5370584	TGTATATG others(25): Show TGTATATGTGTGTGTGTATGCGTGTGTATATGC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01943.hp1 HG01952.hp1 others(11): Show HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02273.hp2 NA18945.hp1 NA18978.hp1 NA18994.hp2 NA19004.hp1 NA19007.hp2 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 others(11): Show a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0130 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0137 a0002c0002t0003g0140 a0002c0002t0003g0154 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0348 a0002c0002t0003g0349	14	465	0.0301	-32	c.-6- others(47): Show c.-6-3128_-6-3097delATATGTGTGTGTGTATGCGTGTGTATATGC GT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UGCG_chr9_111891814_111940369	111911905	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(43): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00741.hp1 HG01358.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG03704.hp1 NA18747.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18964.hp2 NA18965.hp1 NA18975.hp1 NA18980.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA19002.hp1 NA19003.hp1 NA19007.hp2 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018 a0001c0001t0052	a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(39): Show a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0007g0260 a0001c0001t0013g0196 a0001c0001t0013g0256 a0001c0001t0018g0037 a0001c0001t0052g0019	46	196	0.2347	-32	c.99- others(47): Show c.99-2679_99-2648delATATATATATATATATATATATATATATAT AT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT1_chr2_128086200_128200677	128175758	CCAGGAGC others(25): Show CCAGGAGCATGGTGCCCCCTCTTCCTAGCTGTT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA20905.hp1 HG02738.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0019 a0001c0003 a0001c0019	a0001c0003t0034 a0001c0019t0038 a0001c0003t0034 a0001c0019t0038	a0001c0003t0034g0178 a0001c0019t0038g0177 a0001c0003t0034g0178 a0001c0019t0038g0177	2	330	0.0061	-32	c.353 others(49): Show c.3539+905_3539+936delAGCATGGTGCCCCCTCTTCCTAGCTGTT CAGG	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	31/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT2B15_chr4_68641597_68675652	68663557	TTTTATTT others(25): Show TTTTATTTTATTTTATTTTTTTCTGTTCAGTTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0183 a0003c0003t0002g0183	1	436	0.0023	-32	c.874 others(47): Show c.874-450_874-419delGAACTGAACAGAAAAAAATAAAATAAAATA AA	UGT2B15	ENSG00000196620.10	transcript	ENST00000338206.6	protein_coding	2/5			chr4	TogoVar
UGT8_chr4_114593807_114683225	114611415	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02615.hp1 others(4): Show HG02109.hp1 HG02572.hp2 HG02615.hp1 HG02895.hp1 HG02897.hp1 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0015 a0001c0001t0006g0207 a0001c0001t0006g0208 others(3): Show a0001c0001t0006g0015 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0017g0211	7	278	0.0252	-32	c.-2- others(49): Show c.-2-11462_-2-11431delTATATATATATATATATATATATATATA TACA	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02257.hp1 HG02717.hp1 others(8): Show HG01981.hp1 HG02257.hp1 HG02717.hp1 HG02818.hp1 HG02976.hp1 HG03195.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0115 a0001c0001t0001g0116 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0161 a0001c0001t0001g0200	11	14	0.7857	-32	c.149 others(51): Show c.1497+1351_1497+1382delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK1_chr12_131889622_131928150	131915713	GAGCCGAG others(25): Show GAGCCGAGATCATACCACCGCACTCCAGCCTGA	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	342	0.0029	-32	c.161 others(49): Show c.1610-176_1610-145delGCCGAGATCATACCACCGCACTCCAGCC TGAA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	18/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	CGAGGCTG others(25): Show CGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0311 a0001c0002t0002g0311	1	74	0.0135	-32	c.218 others(49): Show c.2183-140_2183-109delCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917289	TGTGGGAC others(25): Show TGTGGGACGGGGGTTGGGGGGAGCTCGGAGGCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01255.hp1 others(19): Show HG01099.hp1 HG01192.hp2 HG01255.hp1 HG01952.hp1 HG02004.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG03098.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp2 NA18906.hp1 NA18943.hp2 NA18945.hp2 NA18971.hp2 NA18980.hp2 NA19000.hp1 NA19064.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0318 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0003t0003g0262 a0001c0005t0001g0151 a0001c0005t0001g0152 a0001c0005t0001g0173 a0001c0005t0001g0174 a0001c0005t0001g0192 a0001c0005t0001g0204 a0001c0005t0001g0322 a0001c0005t0002g0156 a0001c0005t0002g0170	22	341	0.0645	-32	c.218 others(48): Show c.2183-115_2183-84delCGGGGGTTGGGGGGAGCTCGGAGGCCGTG GGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK4_chr3_41241599_41967103	41399664	TCTGGCTT others(25): Show TCTGGCTTCAAGCAATTCTCCCACCTCAGCCTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp1 HG01891.hp1 HG03486.hp1	a0003 a0016 a0003 a0016	a0003c0016 a0016c0015 a0003c0016 a0016c0015	a0003c0016t0001 a0016c0015t0001 a0003c0016t0001 a0016c0015t0001	a0003c0016t0001g0057 a0016c0015t0001g0005 a0003c0016t0001g0057 a0016c0015t0001g0005	2	70	0.0286	-32	c.349 others(51): Show c.3493-1432_3493-1401delGAGGCTGAGGTGGGAGAATTGCTTGA AGCCAG	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41584323	ACTCTGTC others(25): Show ACTCTGTCACCCAAGCTGGAGTGCGGTGGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0002 a0009c0008t0002	a0009c0008t0002g0021 a0009c0008t0002g0021	1	70	0.0143	-32	c.312 others(53): Show c.3121-18225_3121-18194delCACACCACCGCACTCCAGCTTGGG TGACAGAG	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	31/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41856533	GTATGTAT others(25): Show GTATGTATATATATATGTGTATATATATACACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02572.hp2 others(4): Show HG01109.hp2 HG02258.hp2 HG02572.hp2 HG02818.hp1 HG03453.hp1 HG03540.hp1 HG06807.hp1	a0002 a0009 a0002 a0009	a0002c0004 a0002c0009 a0009c0008 a0002c0004 a0002c0009 a0009c0008	a0002c0004t0002 a0002c0009t0002 a0009c0008t0002 a0002c0004t0002 a0002c0009t0002 a0009c0008t0002	a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0019 others(4): Show a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0019 a0002c0009t0002g0012 a0002c0009t0002g0018 a0009c0008t0002g0020 a0009c0008t0002g0021	7	60	0.1167	-32	c.165 others(53): Show c.1657-20594_1657-20563delTGTGTATATATATACACATATATA TATACATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36			chr3	TogoVar
UNC13B_chr9_35157009_35410335	35328638	TCCTTCCT others(25): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG01952.hp2 others(16): Show HG00738.hp2 HG01891.hp1 HG01952.hp2 HG02004.hp2 HG02080.hp2 HG02155.hp2 HG02451.hp1 HG02630.hp2 HG03225.hp2 NA18941.hp2 NA18943.hp2 NA18951.hp1 NA18955.hp1 NA18968.hp1 NA18971.hp1 NA18993.hp1 NA18999.hp1 NA19067.hp1 NA19068.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0023	a0001c0001 a0003c0002 a0003c0016 others(3): Show a0001c0001 a0003c0002 a0003c0016 a0003c0028 a0005c0006 a0023c0026	a0001c0001t0001 a0003c0002t0001 a0003c0016t0001 others(3): Show a0001c0001t0001 a0003c0002t0001 a0003c0016t0001 a0003c0028t0001 a0005c0006t0001 a0023c0026t0001	a0001c0001t0001g0135 a0003c0002t0001g0023 a0003c0002t0001g0051 others(16): Show a0001c0001t0001g0135 a0003c0002t0001g0023 a0003c0002t0001g0051 a0003c0002t0001g0077 a0003c0002t0001g0078 a0003c0002t0001g0079 a0003c0002t0001g0086 a0003c0002t0001g0087 a0003c0002t0001g0088 a0003c0002t0001g0091 a0003c0002t0001g0125 a0003c0002t0001g0148 a0003c0016t0001g0054 a0003c0016t0001g0085 a0003c0028t0001g0126 a0005c0006t0001g0186 a0005c0006t0001g0203 a0005c0006t0001g0217 a0023c0026t0001g0127	19	222	0.0856	-32	c.941 others(53): Show c.9414+14660_9414+14691delTTCCTTCCTTCCTTCCTCCCTCCC TTCCTTCC	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54172703	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0150 a0001c0001t0011g0150	1	9	0.1111	-32	c.307 others(53): Show c.3071+29046_3071+29077delATATATATATATATATATATATAT ATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54280671	TATACATA others(25): Show TATACATATATACATATATAAACATATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01109.hp1 HG01109.hp2 others(52): Show HG00423.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03927.hp2 NA18522.hp1 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18979.hp1 NA18989.hp1 NA18993.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19081.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0014 a0001c0020 a0001c0021 a0001c0034 a0001c0035 a0001c0041 a0002c0015 a0002c0018 a0002c0019 a0003c0037 a0003c0038 a0005c0011 a0006c0013 a0007c0010 a0010c0039 a0011c0024 a0012c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0036 a0001c0001t0037 a0001c0001t0045 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0020 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0051 a0001c0003t0002 a0001c0003t0005 a0001c0003t0021 a0001c0004t0055 a0001c0007t0001 a0001c0014t0002 a0001c0020t0008 a0001c0021t0013 a0001c0034t0058 a0001c0035t0001 a0001c0041t0025 a0002c0015t0012 a0002c0018t0004 a0002c0019t0031 a0003c0037t0008 a0003c0038t0011 a0005c0011t0003 a0006c0013t0014 a0006c0013t0044 a0007c0010t0035 a0010c0039t0001 a0011c0024t0028 a0012c0025t0018	a0001c0001t0001g0035 a0001c0001t0002g0141 a0001c0001t0002g0144 others(52): Show a0001c0001t0001g0035 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0006g0137 a0001c0001t0007g0028 a0001c0001t0011g0077 a0001c0001t0011g0150 a0001c0001t0016g0115 a0001c0001t0018g0033 a0001c0001t0025g0003 a0001c0001t0036g0089 a0001c0001t0037g0158 a0001c0001t0045g0130 a0001c0001t0059g0147 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0040 a0001c0002t0002g0063 a0001c0002t0005g0123 a0001c0002t0008g0075 a0001c0002t0008g0081 a0001c0002t0020g0024 a0001c0002t0022g0086 a0001c0002t0022g0092 a0001c0002t0023g0064 a0001c0002t0023g0098 a0001c0002t0024g0138 a0001c0002t0051g0157 a0001c0003t0002g0088 a0001c0003t0005g0120 a0001c0003t0005g0125 a0001c0003t0021g0155 a0001c0004t0055g0095 a0001c0007t0001g0029 a0001c0014t0002g0076 a0001c0020t0008g0085 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0034t0058g0149 a0001c0035t0001g0001 a0001c0041t0025g0156 a0002c0015t0012g0047 a0002c0018t0004g0048 a0002c0019t0031g0071 a0003c0037t0008g0094 a0003c0038t0011g0002 a0005c0011t0003g0072 a0005c0011t0003g0078 a0006c0013t0014g0151 a0006c0013t0044g0062 a0007c0010t0035g0140 a0010c0039t0001g0037 a0011c0024t0028g0017 a0012c0025t0018g0030	55	156	0.3526	-32	c.381 others(53): Show c.3819-13172_3819-13141delAACATATGTATACATACATATATA CATATATA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	10/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45A_chr15_90930285_90959093	90955092	TGCCTTGG others(25): Show TGCCTTGGTCCAACGCCCCCGGTTTCCTCCAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0002 a0007c0015t0002	a0007c0015t0002g0001 a0007c0015t0002g0001	1	394	0.0025	-32	c.13 others(43): Show c.1377_*1408delGCCTTGGTCCAACGCCCCCGGTTTCCTCCAGG	UNC45A	ENSG00000140553.18	transcript	ENST00000418476.2	protein_coding		1000		chr15	TogoVar
UNC5A_chr5_176805559_176885898	176829174	ATGGATGG others(25): Show ATGGATGGATGGATGGATGGATGGATGGATGGT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18999.hp2 HG01081.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0194 a0001c0001t0002g0058 a0001c0001t0002g0194	2	266	0.0075	-32	c.70+ others(49): Show c.70+18366_70+18397delATGGATGGATGGATGGATGGTTGGATGG ATGG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176870990	CCCACACC others(25): Show CCCACACCACAGCTTCCCATCTGCCCACACTCG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	266	0.0038	-32	c.886 others(47): Show c.886+459_886+490delACACCACAGCTTCCCATCTGCCCACACTCG CC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5D_chr8_35230475_35801540	35300446	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0030 a0002c0005t0017g0030	1	2	0.5000	-32	c.103 others(51): Show c.103+64576_103+64607delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35538395	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0055 a0001c0002t0006g0055	1	9	0.1111	-32	c.104 others(51): Show c.104-10883_104-10852delATATATATATATATATATATATATAT ATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93615735	AAAAAAAA others(25): Show AAAAAAAAAAAGAAAAGAAGAAAAGAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 NA18522.hp1 HG02257.hp2 HG02970.hp1 NA18522.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0002 a0006c0013t0001 a0006c0013t0002	a0006c0013t0001g0044 a0006c0013t0002g0045 a0006c0013t0002g0046 a0006c0013t0001g0044 a0006c0013t0002g0045 a0006c0013t0002g0046	3	192	0.0156	-32	c.410 others(51): Show c.4108-1379_4108-1348delAAAGAAAAGAAGAAAAGAAGAAAAGA AAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	28/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660537	ATATATAT others(25): Show ATATATATATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0008 a0001c0009t0001g0008	1	192	0.0052	-32	c.685 others(51): Show c.6858+1278_6858+1309delATATATATATATATATATATATATAT GTGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209821130	GCTGTCAG others(25): Show GCTGTCAGGTTTAGTTTTATTCTGAAGCCTCTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG01175.hp2 others(26): Show HG00642.hp2 HG01123.hp1 HG01175.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp2 HG02083.hp1 HG02145.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp1 HG03540.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18991.hp1 NA19003.hp1 NA19062.hp2 NA19240.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0014	a0001c0003 a0001c0004 a0001c0007 others(10): Show a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0001c0013 a0001c0023 a0001c0024 a0001c0026 a0001c0029 a0001c0048 a0002c0025 a0013c0027 a0014c0028	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(15): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0001c0007t0003 a0001c0012t0001 a0001c0013t0002 a0001c0013t0010 a0001c0023t0002 a0001c0024t0001 a0001c0026t0006 a0001c0029t0001 a0001c0048t0001 a0002c0025t0001 a0013c0027t0001 a0014c0028t0008	a0001c0003t0001g0077 a0001c0003t0002g0011 a0001c0003t0002g0012 others(26): Show a0001c0003t0001g0077 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0006g0020 a0001c0003t0006g0088 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0031 a0001c0004t0001g0081 a0001c0004t0001g0087 a0001c0004t0001g0138 a0001c0004t0002g0082 a0001c0007t0001g0034 a0001c0007t0001g0038 a0001c0007t0003g0022 a0001c0012t0001g0044 a0001c0012t0001g0076 a0001c0013t0002g0183 a0001c0013t0010g0181 a0001c0023t0002g0096 a0001c0024t0001g0080 a0001c0026t0006g0033 a0001c0029t0001g0045 a0001c0048t0001g0046 a0002c0025t0001g0036 a0013c0027t0001g0032 a0014c0028t0008g0037	29	186	0.1559	-32	c.233 others(49): Show c.2331+454_2331+485delGTCAGGTTTAGTTTTATTCTGAAGCCTC TTCT	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	13/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955692	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02027.hp1 HG02040.hp2 HG00597.hp2 HG02027.hp1 HG02040.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0049 a0001c0001 a0003c0049	a0001c0001t0001 a0003c0049t0002 a0001c0001t0001 a0003c0049t0002	a0001c0001t0001g0067 a0001c0001t0001g0132 a0003c0049t0002g0131 a0001c0001t0001g0067 a0001c0001t0001g0132 a0003c0049t0002g0131	3	93	0.0323	-32	c.745 others(51): Show c.7457+1438_7457+1469delTATATATATATATATATATATATATA TATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955718	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0012 a0012	a0012c0052 a0012c0052	a0012c0052t0003 a0012c0052t0003	a0012c0052t0003g0149 a0012c0052t0003g0149	1	185	0.0054	-32	c.745 others(51): Show c.7457+1450_7457+1481delTATATATATATATATATATACACACA CACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPF3A_chr13_114276601_114310817	114295302	GCTGGCCT others(25): Show GCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	401	0.0025	-32	c.847 others(49): Show c.847-3509_847-3478delAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar

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