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
UBE2R2_chr9_33812160_33925399	33859799	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18995.hp1 NA19063.hp1 HG00544.hp2 NA18995.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0017g0249 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0017g0249	3	249	0.0120	12	c.178 others(31): Show c.178-27081_178-27080insTGTGTGTGTGAG	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2R2_chr9_33812160_33925399	33869423	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02895.hp2 others(9): Show HG01884.hp2 HG02109.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 a0001c0001t0029 a0001c0001t0038	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0143 others(9): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0014g0091 a0001c0001t0023g0319 a0001c0001t0023g0320 a0001c0001t0029g0321 a0001c0001t0038g0126	12	221	0.0543	12	c.178 others(31): Show c.178-17430_178-17419dupATTTATTTATTT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2R2_chr9_33812160_33925399	33884198	A A	ATCTCTCT others(5): Show ATCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG01070.hp1 others(24): Show HG00621.hp1 HG00738.hp2 HG01070.hp1 HG01167.hp1 HG01167.hp2 HG01884.hp2 HG01978.hp1 HG02004.hp1 HG02109.hp1 HG02148.hp2 HG02572.hp2 HG02615.hp2 HG03490.hp2 HG03516.hp1 HG03942.hp1 HG04199.hp2 HG06807.hp1 NA18946.hp1 NA18957.hp1 NA18961.hp1 NA18978.hp1 NA18994.hp2 NA18998.hp2 NA19030.hp2 NA19065.hp2 NA19089.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031	a0001c0001t0001g0102 a0001c0001t0002g0205 a0001c0001t0002g0210 others(24): Show a0001c0001t0001g0102 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0055 a0001c0001t0003g0069 a0001c0001t0004g0332 a0001c0001t0004g0334 a0001c0001t0004g0348 a0001c0001t0004g0365 a0001c0001t0005g0064 a0001c0001t0005g0067 a0001c0001t0008g0060 a0001c0001t0008g0087 a0001c0001t0011g0306 a0001c0001t0014g0089 a0001c0001t0014g0090 a0001c0001t0014g0091 a0001c0001t0023g0320 a0001c0001t0026g0086 a0001c0001t0031g0066	27	76	0.3553	12	c.178 others(29): Show c.178-2657_178-2646dupCTCTCTCTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2R2_chr9_33812160_33925399	33891047	G G	GTTTTTTT others(5): Show GTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG01496.hp2 HG01081.hp1 HG01243.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0019 a0001c0001t0003g0042 a0001c0001t0003g0043	3	159	0.0189	12	c.264 others(29): Show c.264+4088_264+4099dupGTTTTTTTTTTT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2R2_chr9_33812160_33925399	33891055	G G	GTTTTTTT others(5): Show GTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01496.hp1 others(43): Show HG00438.hp1 HG00673.hp1 HG01496.hp1 HG01993.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02559.hp2 HG02818.hp2 HG02976.hp1 HG03225.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA18943.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18970.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19086.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0027 a0001c0001t0032 a0001c0001t0039 a0001c0001t0045	a0001c0001t0004g0315 a0001c0001t0004g0324 a0001c0001t0004g0325 others(43): Show a0001c0001t0004g0315 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0347 a0001c0001t0004g0348 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0360 a0001c0001t0004g0363 a0001c0001t0004g0366 a0001c0001t0006g0316 a0001c0001t0006g0323 a0001c0001t0006g0327 a0001c0001t0006g0333 a0001c0001t0006g0346 a0001c0001t0006g0349 a0001c0001t0006g0352 a0001c0001t0006g0358 a0001c0001t0006g0362 a0001c0001t0006g0364 a0001c0001t0018g0328 a0001c0001t0018g0339 a0001c0001t0018g0343 a0001c0001t0027g0342 a0001c0001t0027g0359 a0001c0001t0032g0322 a0001c0001t0039g0361 a0001c0001t0045g0331	46	360	0.1278	12	c.264 others(29): Show c.264+4098_264+4099insGTTTTTTTTTTT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2R2_chr9_33812160_33925399	33909006	T T	TTAAATAA others(5): Show TTAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp1 HG02630.hp2 others(8): Show HG01496.hp2 HG02109.hp1 HG02630.hp2 HG02896.hp2 HG03130.hp2 HG03209.hp1 HG03516.hp2 HG03540.hp2 HG03834.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 others(8): Show a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0045 a0001c0001t0012g0082 a0001c0001t0012g0083 a0001c0001t0012g0084 a0001c0001t0012g0085	11	212	0.0519	12	c.363 others(29): Show c.363-2947_363-2936dupAATAAATAAATA	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2T_chr1_202326657_202346936	202332907	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	15	0.0667	12	c.468 others(26): Show c.468+91_468+102dupTTTTTTTTTTTT	UBE2T	ENSG00000077152.12	transcript	ENST00000646651.1	protein_coding	6/6			chr1	TogoVar
UBE2U_chr1_64198623_64272368	64200418	G G	GCTCTCCC others(5): Show GCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03017.hp2 HG03942.hp1 HG02258.hp2 HG03017.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0116 a0001c0001t0001g0124 a0002c0003t0001g0053 a0001c0001t0001g0116 a0001c0001t0001g0124 a0002c0003t0001g0053	3	120	0.0250	12	c.-36 others(23): Show c.-3633_-3632insCTCTCCCTCTCC	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		3204		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64200418	G G	GTTCTCCC others(5): Show GTTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02622.hp2 HG03516.hp1 others(1): Show HG01255.hp2 HG02622.hp2 HG03516.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0278 a0001c0001t0001g0299 a0002c0002t0001g0287 others(1): Show a0001c0001t0001g0278 a0001c0001t0001g0299 a0002c0002t0001g0287 a0002c0002t0001g0298	4	121	0.0331	12	c.-36 others(23): Show c.-3633_-3632insTTCTCCCTCTCC	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		3204		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64202268	A A	AAAAAAAA others(5): Show AAAAAAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02630.hp2 others(1): Show HG02258.hp1 HG02451.hp1 HG02630.hp2 NA19043.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0291 a0002c0002t0001g0297 a0005c0007t0001g0285 others(1): Show a0002c0002t0001g0291 a0002c0002t0001g0297 a0005c0007t0001g0285 a0005c0007t0001g0294	4	206	0.0194	12	c.-17 others(23): Show c.-1783_-1782insAAAAAAATAAAT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		1354		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64202268	A A	AAAATAAA others(5): Show AAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	203	0.0049	12	c.-17 others(23): Show c.-1783_-1782insAAATAAATAAAT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		1354		chr1	TogoVar
UBE2V1_chr20_50076124_50118150	50079375	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(69): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp2 HG00642.hp1 HG01069.hp1 HG01074.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG01981.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp1 HG02965.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp2 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18989.hp2 NA18999.hp2 NA19009.hp1 NA19012.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19074.hp2 NA19078.hp1 NA19081.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0017	a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0020 others(57): Show a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0004g0019 a0001c0001t0004g0023 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0083 a0001c0001t0004g0086 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0105 a0001c0001t0004g0108 a0001c0001t0004g0132 a0001c0001t0004g0139 a0001c0001t0006g0008 a0001c0001t0006g0016 a0001c0001t0006g0062 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0068 a0001c0001t0015g0063 a0001c0001t0015g0067 a0001c0001t0017g0301	72	209	0.3445	12	c.33 others(23): Show c.3392_*3393insAAAAAAAAAAAA	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding		1748		chr20	TogoVar
UBE2V1_chr20_50076124_50118150	50113783	A A	ATTCATTC others(5): Show ATTCATTCATTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	396	0.0025	12	c.-66 others(21): Show c.-667_-656dupCGAATGAATGAA	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding		634		chr20	TogoVar
UBE2V2_chr8_48003431_48069708	48034128	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp2 HG03225.hp1 others(2): Show HG02280.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0099 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0099 a0001c0001t0005g0012 a0001c0001t0009g0100	5	132	0.0379	12	c.17- others(27): Show c.17-8904_17-8893dupTTTTTTTTTTTT	UBE2V2	ENSG00000169139.12	transcript	ENST00000523111.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
UBE2V2_chr8_48003431_48069708	48035631	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	150	0.0067	12	c.17- others(27): Show c.17-7384_17-7373dupGTGTGTGTGTGT	UBE2V2	ENSG00000169139.12	transcript	ENST00000523111.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
UBE2V2_chr8_48003431_48069708	48067861	T T	TATAATAA others(5): Show TATAATAATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0231 a0001c0001t0020g0231	1	237	0.0042	12	c.70 others(23): Show c.7033_*7034insATAATAATAATA	UBE2V2	ENSG00000169139.12	transcript	ENST00000523111.7	protein_coding		3154		chr8	TogoVar
UBE2V2_chr8_48003431_48069708	48067862	C C	CTAATAAT others(5): Show CTAATAATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0195 a0001c0001t0008g0195	1	190	0.0053	12	c.70 others(23): Show c.7034_*7035insTAATAATAATAA	UBE2V2	ENSG00000169139.12	transcript	ENST00000523111.7	protein_coding		3155		chr8	TogoVar
UBE2W_chr8_73781219_73883862	73789307	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0190 a0001c0001t0069g0190	1	20	0.0500	12	c.47 others(23): Show c.4783_*4794dupTTTTTTTTTTTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	6/6	4794		chr8	TogoVar
UBE2W_chr8_73781219_73883862	73805454	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00642.hp1 others(11): Show HG00280.hp1 HG00558.hp2 HG00642.hp1 HG01993.hp1 HG02129.hp2 HG02896.hp2 HG02922.hp2 HG03471.hp1 NA18943.hp2 NA18995.hp1 NA19000.hp1 NA19064.hp1 NA19082.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0029 others(4): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0029 a0001c0001t0037 a0001c0001t0064 a0001c0001t0066 a0001c0001t0073	a0001c0001t0010g0028 a0001c0001t0010g0029 a0001c0001t0010g0030 others(11): Show a0001c0001t0010g0028 a0001c0001t0010g0029 a0001c0001t0010g0030 a0001c0001t0010g0031 a0001c0001t0010g0036 a0001c0001t0011g0033 a0001c0001t0011g0035 a0001c0001t0011g0037 a0001c0001t0029g0022 a0001c0001t0029g0081 a0001c0001t0037g0158 a0001c0001t0064g0038 a0001c0001t0066g0039 a0001c0001t0073g0034	14	96	0.1458	12	c.442 others(27): Show c.442+185_442+196dupTTTTTTTTTTTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	5/5			chr8	TogoVar
UBE2W_chr8_73781219_73883862	73844174	C C	CCCTCTCC others(5): Show CCCTCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01109.hp1 others(44): Show HG00408.hp1 HG01069.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA18946.hp1 NA18965.hp2 NA18966.hp1 NA18975.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19077.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(15): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046	a0001c0001t0005g0062 a0001c0001t0005g0065 a0001c0001t0005g0066 others(44): Show a0001c0001t0005g0062 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0080 a0001c0001t0007g0247 a0001c0001t0007g0248 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0009g0079 a0001c0001t0012g0242 a0001c0001t0012g0244 a0001c0001t0012g0245 a0001c0001t0012g0246 a0001c0001t0013g0243 a0001c0001t0013g0249 a0001c0001t0013g0258 a0001c0001t0013g0259 a0001c0001t0017g0064 a0001c0001t0017g0073 a0001c0001t0017g0074 a0001c0001t0022g0007 a0001c0001t0022g0009 a0001c0001t0035g0254 a0001c0001t0036g0260 a0001c0001t0038g0061 a0001c0001t0039g0076 a0001c0001t0040g0051 a0001c0001t0041g0063 a0001c0001t0042g0050 a0001c0001t0043g0008 a0001c0001t0044g0006 a0001c0001t0045g0004 a0001c0001t0046g0005	47	53	0.8868	12	c.16- others(29): Show c.16-13703_16-13702insAAGAGGGAGAGG	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	1/5			chr8	TogoVar
UBE2W_chr8_73781219_73883862	73866286	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0029 a0001c0001t0010g0029	1	247	0.0040	12	c.15+ others(29): Show c.15+12521_15+12522insATATATATATAT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	1/5			chr8	TogoVar
UBE2W_chr8_73781219_73883862	73866288	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0038 a0001c0001t0064g0038	1	188	0.0053	12	c.15+ others(29): Show c.15+12519_15+12520insATATATATATAT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	1/5			chr8	TogoVar
UBE3A_chr15_25328728_25444024	25332812	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01167.hp1 HG01255.hp1 others(13): Show HG00099.hp1 HG01167.hp1 HG01255.hp1 HG01496.hp2 HG01516.hp1 HG02055.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02965.hp1 HG02976.hp1 HG03225.hp1 HG03453.hp1 HG03834.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(6): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0023 a0001c0001t0050 a0001c0001t0055 a0001c0002t0009 a0001c0003t0010 a0002c0005t0007	a0001c0001t0004g0016 a0001c0001t0004g0032 a0001c0001t0004g0039 others(13): Show a0001c0001t0004g0016 a0001c0001t0004g0032 a0001c0001t0004g0039 a0001c0001t0004g0043 a0001c0001t0007g0025 a0001c0001t0008g0146 a0001c0001t0008g0150 a0001c0001t0023g0023 a0001c0001t0023g0046 a0001c0001t0050g0045 a0001c0001t0055g0295 a0001c0002t0009g0133 a0001c0002t0009g0134 a0001c0002t0009g0140 a0001c0003t0010g0262 a0002c0005t0007g0021	16	108	0.1481	12	c.63 others(23): Show c.6324_*6325insAAAAAAAAAAAA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding		915		chr15	TogoVar
UBE3A_chr15_25328728_25444024	25345566	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	143	0.0070	12	c.235 others(31): Show c.2355-5350_2355-5339dupTGTGTGTGTGTG	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	11/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25364036	T T	TAATAAAT others(5): Show TAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(76): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18948.hp1 NA18968.hp1 NA18971.hp1 NA18974.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19063.hp1 NA19070.hp1 NA19075.hp2 NA19078.hp1 NA19240.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0031 a0001c0001t0038 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0002t0009 a0001c0002t0017 a0001c0003t0010 a0002c0005t0007	a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0163 others(75): Show a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0290 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0157 a0001c0001t0003g0164 a0001c0001t0003g0168 a0001c0001t0003g0173 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0215 a0001c0001t0003g0227 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0250 a0001c0001t0003g0258 a0001c0001t0004g0013 a0001c0001t0004g0015 a0001c0001t0004g0029 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0005g0143 a0001c0001t0007g0019 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0047 a0001c0001t0008g0153 a0001c0001t0016g0268 a0001c0001t0016g0269 a0001c0001t0016g0270 a0001c0001t0018g0057 a0001c0001t0018g0058 a0001c0001t0018g0059 a0001c0001t0019g0097 a0001c0001t0023g0023 a0001c0001t0023g0046 a0001c0001t0031g0037 a0001c0001t0038g0235 a0001c0001t0047g0109 a0001c0001t0052g0038 a0001c0001t0053g0031 a0001c0001t0054g0251 a0001c0002t0009g0137 a0001c0002t0009g0140 a0001c0002t0017g0138 a0001c0003t0010g0142 a0001c0003t0010g0262 a0001c0003t0010g0265 a0002c0005t0007g0021 a0002c0005t0007g0022	79	135	0.5852	12	c.160 others(31): Show c.1609-3521_1609-3510dupTATTTATTTATT	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	6/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25398771	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02040.hp2 HG02735.hp2 others(5): Show HG00544.hp1 HG02040.hp2 HG02735.hp2 HG03041.hp2 HG03486.hp2 HG03492.hp1 NA18522.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 a0001c0001t0037 a0001c0004t0029	a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0247 others(5): Show a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0247 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0030g0221 a0001c0001t0037g0252 a0001c0004t0029g0151	8	156	0.0513	12	c.62+ others(27): Show c.62+6678_62+6689dupTATATATATATA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	4/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430027	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18967.hp1 NA18906.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0013 a0001c0001t0002 a0001c0004t0013	a0001c0001t0002g0114 a0001c0004t0013g0129 a0001c0001t0002g0114 a0001c0004t0013g0129	2	41	0.0488	12	c.-16 others(31): Show c.-165+8450_-165+8461dupTATATATATATA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE3C_chr7_157133926_157274370	157139400	G G	GGGACTCG others(5): Show GGGACTCGGGGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(117): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18953.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18989.hp1 NA18994.hp2 NA18997.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19082.hp1 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0009 a0004c0017 others(1): Show a0001c0002 a0001c0009 a0004c0017 a0006c0016	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0015 a0001c0002t0017 a0001c0002t0020 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0029 a0001c0009t0001 a0004c0017t0001 a0006c0016t0001	a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0200 others(117): Show a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0002g0243 a0001c0002t0002g0248 a0001c0002t0003g0286 a0001c0002t0003g0311 a0001c0002t0008g0204 a0001c0002t0008g0283 a0001c0002t0009g0264 a0001c0002t0009g0265 a0001c0002t0009g0266 a0001c0002t0011g0315 a0001c0002t0011g0316 a0001c0002t0015g0198 a0001c0002t0017g0314 a0001c0002t0020g0226 a0001c0002t0025g0257 a0001c0002t0026g0246 a0001c0002t0027g0213 a0001c0002t0029g0245 a0001c0009t0001g0001 a0004c0017t0001g0205 a0006c0016t0001g0218	120	318	0.3774	12	c.66+ others(23): Show c.66+72_66+73insTTGGACTCGGGG	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157152927	G G	GCAAAAAA others(5): Show GCAAAAAATTACA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	320	0.0031	12	c.67- others(29): Show c.67-10883_67-10882insCAAAAAATTACA	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	1/22			chr7	TogoVar
UBE3C_chr7_157133926_157274370	157171660	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0163 a0001c0002t0010g0163	1	296	0.0034	12	c.342 others(29): Show c.342+1226_342+1237dupATATATATATAT	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157204398	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(16): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG01981.hp1 HG02145.hp2 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG03098.hp1 HG03516.hp2 NA18940.hp2 NA18946.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18973.hp1 NA18982.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0082 a0001c0001t0002g0013 a0001c0001t0002g0018 others(16): Show a0001c0001t0001g0082 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0094 a0001c0001t0003g0322	19	206	0.0922	12	c.141 others(31): Show c.1418+2600_1418+2611dupAAAAAAAAAAAA	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157211167	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01074.hp1 others(16): Show HG00423.hp1 HG00544.hp1 HG01074.hp1 HG01255.hp2 HG01258.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG02293.hp2 HG02572.hp2 HG02895.hp2 HG02970.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp1 NA18971.hp2 NA18984.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 a0001c0003t0003	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(16): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0024 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0079 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0003g0321 a0001c0001t0004g0184 a0001c0001t0005g0187 a0001c0003t0002g0126 a0001c0003t0003g0114 a0001c0003t0003g0128	19	141	0.1348	12	c.180 others(31): Show c.1809+3248_1809+3259dupAGAGAGAGAGAG	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157262409	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19068.hp1 HG03927.hp2 NA19068.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0166 a0001c0004t0003g0175 a0001c0004t0003g0166 a0001c0004t0003g0175	2	7	0.2857	12	c.308 others(31): Show c.3082-5160_3082-5149dupTTTTTTTTTTTT	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3D_chr6_82887390_83070841	82977113	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	67	0.0149	12	c.101 others(33): Show c.1011-19675_1011-19664dupTTTTTTTTTTTT	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	8/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82995490	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00597.hp2 others(69): Show HG00140.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG00741.hp1 HG01071.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 NA18906.hp2 NA18943.hp2 NA18950.hp2 NA18955.hp1 NA18957.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18984.hp1 NA18989.hp1 NA19002.hp1 NA19002.hp2 NA19030.hp2 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19074.hp2 NA19079.hp2 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0005c0006t0001	a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0063 others(69): Show a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0112 a0001c0001t0005g0184 a0001c0001t0005g0185 a0005c0006t0001g0120	72	152	0.4737	12	c.101 others(33): Show c.1010+23471_1010+23482dupTGTGTGTGTGTG	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	8/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82995510	A A	ACACACAC others(5): Show ACACACACACACG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02132.hp1 HG02258.hp2 others(2): Show HG00438.hp1 HG02132.hp1 HG02258.hp2 HG03098.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0002c0002t0001g0013 a0002c0002t0001g0143 a0002c0002t0002g0074 others(2): Show a0002c0002t0001g0013 a0002c0002t0001g0143 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0004g0044	5	136	0.0368	12	c.101 others(33): Show c.1010+23462_1010+23463insCGTGTGTGTGTG	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	8/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	83020345	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG03453.hp2 HG01891.hp2 HG02109.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0006g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0006g0137	3	184	0.0163	12	c.847 others(29): Show c.847-1210_847-1209insCAAAAAAAAAAA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	7/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	83027434	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01123.hp1 others(30): Show HG00438.hp1 HG00738.hp2 HG01123.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01516.hp1 HG02080.hp2 HG02258.hp1 HG02300.hp2 HG02698.hp1 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp2 NA18950.hp2 NA18955.hp1 NA18971.hp2 NA18979.hp2 NA19002.hp1 NA19043.hp2 NA19063.hp1 NA19079.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0004c0004t0002 a0005c0006t0001	a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0083 others(30): Show a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0002g0039 a0001c0001t0002g0057 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0086 a0001c0001t0002g0102 a0001c0001t0002g0124 a0001c0001t0002g0145 a0001c0001t0002g0161 a0001c0001t0004g0112 a0002c0002t0002g0075 a0002c0002t0002g0092 a0004c0004t0002g0002 a0005c0006t0001g0120	33	83	0.3976	12	c.668 others(29): Show c.668-3408_668-3397dupTTTTTTTTTTTT	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	5/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	83046672	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	38	0.0263	12	c.366 others(29): Show c.366-2014_366-2013insCCCCCCCCCCCC	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	3/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	83046673	G G	GGGGGGGG others(5): Show GGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	175	0.0057	12	c.366 others(29): Show c.366-2015_366-2014insACCCCCCCCCCC	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	3/9			chr6	TogoVar
UBE4B_chr1_10027958_10186239	10028343	A A	ACCCCTCC others(5): Show ACCCCTCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02132.hp1 HG02615.hp2 HG01884.hp2 HG02132.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0011 a0001c0001t0002 a0001c0009t0011	a0001c0001t0002g0024 a0001c0009t0011g0016 a0001c0009t0011g0017 a0001c0001t0002g0024 a0001c0009t0011g0016 a0001c0009t0011g0017	3	215	0.0140	12	c.-53 others(23): Show c.-5328_-5327insCCCCTCCCCCTC	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding		4614		chr1	TogoVar
UBE4B_chr1_10027958_10186239	10071679	C C	CGTATTTA others(5): Show CGTATTTATGTAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG02735.hp1 others(2): Show HG01069.hp2 HG01070.hp1 HG02735.hp1 HG03239.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0156 a0001c0001t0004g0100 a0001c0001t0004g0116 others(2): Show a0001c0001t0003g0156 a0001c0001t0004g0100 a0001c0001t0004g0116 a0001c0001t0004g0155 a0001c0001t0004g0166	5	215	0.0233	12	c.25- others(25): Show c.25-332_25-321dupTTATGTATGTAT	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE4B_chr1_10027958_10186239	10090793	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0007 a0004c0012t0007	a0004c0012t0007g0075 a0004c0012t0007g0075	1	62	0.0161	12	c.212 others(29): Show c.212-4640_212-4629dupGTGTGTGTGTGT	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE4B_chr1_10027958_10186239	10111044	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0059 a0001c0007t0001g0059	1	42	0.0238	12	c.119 others(31): Show c.1196+4499_1196+4510dupCACACACACACA	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE4B_chr1_10027958_10186239	10153490	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0065 a0001c0020t0002g0065	1	142	0.0070	12	c.292 others(31): Show c.2926+1946_2926+1957dupAAAAAAAAAAAA	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE4B_chr1_10027958_10186239	10155064	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0015 a0001c0006t0008g0015	1	211	0.0047	12	c.292 others(31): Show c.2927-3282_2927-3271dupAGAGAGAGAGAG	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE4B_chr1_10027958_10186239	10167441	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG03041.hp1 others(5): Show HG02559.hp2 HG02615.hp2 HG03041.hp1 HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0003c0013	a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 others(2): Show a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 a0001c0009t0011 a0003c0013t0015	a0001c0002t0001g0070 a0001c0002t0006g0032 a0001c0002t0006g0033 others(5): Show a0001c0002t0001g0070 a0001c0002t0006g0032 a0001c0002t0006g0033 a0001c0002t0006g0215 a0001c0002t0006g0217 a0001c0003t0002g0092 a0001c0009t0011g0017 a0003c0013t0015g0054	8	147	0.0544	12	c.319 others(29): Show c.3199-673_3199-662dupAATAATAATAAT	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBIAD1_chr1_11268198_11293434	11292668	T T	TATACACA others(5): Show TATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	192	0.0052	12	c.65 others(23): Show c.6537_*6538insATACACACACAC	UBIAD1	ENSG00000120942.14	transcript	ENST00000376810.6	protein_coding		4235		chr1	TogoVar
UBL3_chr13_29759371_29855617	29780353	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02155.hp2 HG00733.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0258 a0001c0001t0004g0155 a0001c0001t0002g0258 a0001c0001t0004g0155	2	235	0.0085	12	c.28- others(27): Show c.28-3102_28-3091dupTTTTTTTTTTTT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29780367	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01952.hp1 others(12): Show HG00558.hp2 HG00621.hp1 HG01952.hp1 HG02083.hp2 HG04204.hp2 NA18961.hp1 NA18972.hp1 NA18974.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA19060.hp2 NA19070.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0256 a0001c0001t0004g0009 a0001c0001t0004g0148 others(11): Show a0001c0001t0002g0256 a0001c0001t0004g0009 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0168 a0001c0001t0004g0174 a0001c0001t0004g0234	15	183	0.0820	12	c.28- others(27): Show c.28-3105_28-3104insATTTTTTTTTTT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar

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