Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TRIM48_chr11_55257155_55276114	55273213	T T	TATAAATT others(185): Show TATAAATTATATATATATTATATATATATAAATTATATATAAATTATATA TATATTATATATATATAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATAAAAATTATATATATATTATATATAAAAATTATA TATATATTATATATATAAAAATTATATATATATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	265	0.0038	192	c.27 others(203): Show c.2778_*2779insATAAATTATATATATATTATATATATATAAATTA TATATAAATTATATATATATTATATATATATAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTA TATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTA TATATATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2100		chr11	TogoVar
TSEN34_chr19_54186308_54199532	54188026	A A	AAAGGAAG others(185): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	429	0.0023	192	c.-33 others(203): Show c.-3339_-3338insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGG	TSEN34	ENSG00000170892.13	transcript	ENST00000396388.3	protein_coding		3281		chr19	TogoVar
TSPAN9_chr12_3072379_3291559	3269479	C C	CCTCTGTG others(185): Show CCTCTGTGCGTTCCTGCAGCCTGCCCTCTGTGCGTTCCTGCAGCCTGCCC TCTGTGTTTTTCCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCG TGCATTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTG TGTTCCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0117 a0001c0001t0071g0117	1	285	0.0035	192	c.64- others(207): Show c.64-8935_64-8934insCGTTCCTGCAGCCTGCCCTCTGTGCGTTCC TGCAGCCTGCCCTCTGTGTTTTTCCAGCCTGCCCTCTCTGTGTTCCTGCA GCCTGCCCTCCGTGCATTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGC CTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCT GCCCTCTCTGTG	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTLL1_chr22_43034516_43094391	43078923	A A	ACAGACAA others(185): Show ACAGACAAGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCA CACCCCTCACACCCACAGACACGGGGACCACGGGAGCCGCACCCCAGAGC GTGAGCCCATCCCACACCCCTCACACCCACAGACACAGGGACCACGGGAG CCGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCACACCCG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0296 a0001c0002t0002g0296	1	349	0.0029	192	c.-5+ others(205): Show c.-5+978_-5+979insCGGGTGTGAGGGGTGTGGGATGGGCTCACGCT CTGGGGTGCGGCTCCCGTGGTCCCTGTGTCTGTGGGTGTGAGGGGTGTGG GATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGTGGG TGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTC CCCTTGTCTG	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43078923	A A	ACAGACAC others(185): Show ACAGACACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCA CACCCCTCACACCCACAGACACGGGGACCACGGGAGCCGCACCCCAGAGC GTGAGCCCATCCCACACCCCTCACACCCACAGACACAGGGACCACGGGAG CCGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCACACCCG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp1 HG02257.hp2 others(6): Show HG01070.hp2 HG01192.hp1 HG02257.hp2 HG02615.hp1 HG02717.hp2 HG02886.hp2 HG02965.hp2 HG03239.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0005 a0001c0001t0005 a0001c0004t0005	a0001c0001t0005g0201 a0001c0001t0005g0255 a0001c0001t0005g0256 others(6): Show a0001c0001t0005g0201 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0004t0005g0254	9	357	0.0252	192	c.-5+ others(205): Show c.-5+978_-5+979insCGGGTGTGAGGGGTGTGGGATGGGCTCACGCT CTGGGGTGCGGCTCCCGTGGTCCCTGTGTCTGTGGGTGTGAGGGGTGTGG GATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGTGGG TGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTC CCCGTGTCTG	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43078930	C C	CGGGGACC others(185): Show CGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCT CACACCCACAGACACGGGGACCACGGCAGCCGCACCCCAGAGCGTGAGCC CATCCCACACCCCTCACACCCACAGACACAGGGACCACGGGAGCCGCACC CCAGAGCGTGAGCCCATCCCACACCCCTCACACCCGCAGACAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	210	0.0048	192	c.-5+ others(205): Show c.-5+971_-5+972insATGTCTGCGGGTGTGAGGGGTGTGGGATGGGC TCACGCTCTGGGGTGCGGCTCCCGTGGTCCCTGTGTCTGTGGGTGTGAGG GGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTGCCGTGGTCCCCGTGT CTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCC CGTGGTCCCC	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43078930	C C	CGGGGACC others(185): Show CGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCT CACACCCACAGACACGGGGACCACGGGAGCCGCACCCCAGAGCATGAGCC CATCCCACACCCCTCACACCCACAGACACAGGGACCACGGGAGCCGCACC CCAGAGCGTGAGCCCATCCCACACCCCTCACACCCGCAGACAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	210	0.0048	192	c.-5+ others(205): Show c.-5+971_-5+972insATGTCTGCGGGTGTGAGGGGTGTGGGATGGGC TCACGCTCTGGGGTGCGGCTCCCGTGGTCCCTGTGTCTGTGGGTGTGAGG GGTGTGGGATGGGCTCATGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGT CTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCC CGTGGTCCCC	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43078930	C C	CGGGGACC others(185): Show CGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCT CACACCCACAGACACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCC CATCCCACACCCCTCACACCCACAGACACAGGGACCACGGGAGCCGCACC CCAGAGCGTGAGCCCATCCCACACCCCTCACACCCGCAGACAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(124): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02738.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0003c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0003t0010 a0001c0004t0005 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0011t0005 a0001c0012t0002 a0001c0012t0003 a0003c0018t0003	a0001c0001t0001g0005 a0001c0001t0001g0200 a0001c0001t0001g0204 others(123): Show a0001c0001t0001g0005 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0332 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0003g0199 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0219 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0292 a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0003g0311 a0001c0001t0003g0318 a0001c0001t0003g0322 a0001c0001t0005g0098 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0309 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0218 a0001c0002t0002g0247 a0001c0002t0002g0253 a0001c0002t0002g0278 a0001c0002t0002g0291 a0001c0002t0002g0295 a0001c0002t0002g0313 a0001c0002t0002g0329 a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0262 a0001c0003t0003g0267 a0001c0003t0003g0303 a0001c0003t0003g0324 a0001c0003t0010g0268 a0001c0003t0010g0306 a0001c0004t0005g0307 a0001c0004t0005g0308 a0001c0005t0001g0208 a0001c0005t0001g0231 a0001c0005t0003g0104 a0001c0005t0003g0217 a0001c0005t0003g0223 a0001c0005t0003g0226 a0001c0005t0003g0232 a0001c0005t0003g0233 a0001c0005t0003g0239 a0001c0005t0003g0241 a0001c0005t0003g0244 a0001c0005t0003g0245 a0001c0005t0003g0279 a0001c0005t0003g0284 a0001c0005t0003g0293 a0001c0005t0003g0294 a0001c0005t0003g0310 a0001c0005t0003g0312 a0001c0005t0003g0314 a0001c0006t0001g0095 a0001c0006t0001g0302 a0001c0006t0001g0342 a0001c0006t0002g0136 a0001c0006t0002g0188 a0001c0006t0002g0189 a0001c0006t0002g0203 a0001c0006t0003g0202 a0001c0006t0003g0282 a0001c0011t0005g0269 a0001c0012t0002g0273 a0001c0012t0003g0209 a0003c0018t0003g0238	127	336	0.3780	192	c.-5+ others(205): Show c.-5+971_-5+972insATGTCTGCGGGTGTGAGGGGTGTGGGATGGGC TCACGCTCTGGGGTGCGGCTCCCGTGGTCCCTGTGTCTGTGGGTGTGAGG GGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGT CTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCC CGTGGTCCCC	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43078930	C C	CGGGGACC others(185): Show CGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCT CACACCCACAGACACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCC CATCCCACACCCCTCACACCCACAGACACAGGGACCACGGGAGCTGCACC CCAGAGCGTGAGCCCATCCCACACCCCTCACACCCGCAGACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02622.hp1 others(1): Show HG01884.hp2 HG02055.hp2 HG02622.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0006t0005 a0001c0001t0005 a0001c0006t0005	a0001c0001t0005g0344 a0001c0006t0005g0338 a0001c0006t0005g0339 others(1): Show a0001c0001t0005g0344 a0001c0006t0005g0338 a0001c0006t0005g0339 a0001c0006t0005g0340	4	213	0.0188	192	c.-5+ others(205): Show c.-5+971_-5+972insATGTCTGCGGGTGTGAGGGGTGTGGGATGGGC TCACGCTCTGGGGTGCAGCTCCCGTGGTCCCTGTGTCTGTGGGTGTGAGG GGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGT CTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCC CGTGGTCCCC	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43078930	C C	CGGGGACC others(185): Show CGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCT CACACCCACAGACACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCC CATCCCACACCCCTCACACCCACAGACACGGGGACCACGGGAGCCGCACC CCAGAGCGTGAGCCCATCCCACACCCCTCACACCCGCAGACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp1 HG01943.hp1 others(4): Show HG00140.hp2 HG01175.hp1 HG01943.hp1 HG02015.hp1 HG02683.hp1 HG03017.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 others(2): Show a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0004t0005	a0001c0001t0003g0215 a0001c0001t0003g0242 a0001c0002t0002g0216 others(4): Show a0001c0001t0003g0215 a0001c0001t0003g0242 a0001c0002t0002g0216 a0001c0002t0002g0221 a0001c0003t0001g0265 a0001c0003t0003g0264 a0001c0004t0005g0319	7	216	0.0324	192	c.-5+ others(205): Show c.-5+971_-5+972insATGTCTGCGGGTGTGAGGGGTGTGGGATGGGC TCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGTGGGTGTGAGG GGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGT CTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCC CGTGGTCCCC	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43078930	C C	CGGGGACC others(185): Show CGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCT CACACCCACAGACATGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCC CATCCCACACCCCTCACACCCACAGACACAGGGACCACGGGAGCCGCACC CCAGAGCGTGAGCCCATCCCACACCCCTCACACCCGCAGACAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp2 HG03195.hp1 others(1): Show HG02622.hp2 HG02976.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0001t0005 a0001c0017t0005 a0001c0001t0001 a0001c0001t0005 a0001c0017t0005	a0001c0001t0001g0086 a0001c0001t0005g0088 a0001c0001t0005g0090 others(1): Show a0001c0001t0001g0086 a0001c0001t0005g0088 a0001c0001t0005g0090 a0001c0017t0005g0089	4	213	0.0188	192	c.-5+ others(205): Show c.-5+971_-5+972insATGTCTGCGGGTGTGAGGGGTGTGGGATGGGC TCACGCTCTGGGGTGCGGCTCCCGTGGTCCCTGTGTCTGTGGGTGTGAGG GGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCATGT CTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCC CGTGGTCCCC	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43078987	A A	ACAGACAC others(185): Show ACAGACACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCA CACCCCTCACACCCACAGACACAGGGACCACGGGAGCCGCACCCCAGAGC GTGAGCCCATCCCACACCCCTCACACCCGCAGACATGGGGACCACGGGAG CCGCACCCCAGAGCGTGAGCCCATCCCACACCCCTCACACCCG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	357	0.0028	192	c.-5+ others(205): Show c.-5+914_-5+915insCGGGTGTGAGGGGTGTGGGATGGGCTCACGCT CTGGGGTGCGGCTCCCGTGGTCCCCATGTCTGCGGGTGTGAGGGGTGTGG GATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCTGTGTCTGTGGG TGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTC CCCGTGTCTG	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43078994	C C	CGGGGACC others(185): Show CGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCCACACCCCT CACACCCACAGACACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCC CATCCCACACCCCTCACACCCACAGACACGGGGACCACGGGAGCCGCACC CCAGAGCGTGAGCCCATCCCACACCCCTCACACCCGCAGACAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0063 a0001c0003t0006g0063	1	256	0.0039	192	c.-5+ others(205): Show c.-5+907_-5+908insATGTCTGCGGGTGTGAGGGGTGTGGGATGGGC TCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGTCTGTGGGTGTGAGG GGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCGTGT CTGTGGGTGTGAGGGGTGTGGGATGGGCTCACGCTCTGGGGTGCGGCTCC CGTGGTCCCC	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43079227	C C	CACACCCC others(185): Show CACACCCCTCACACCCGCAGACATGGGGACCACGGGAGCCGCACCCCAGA GCGTGAGCCCATCCCACACCCCTCACACCCGCAGACAAGGGGACCACGGG AGCCACACCCCAGAGCGTGAGTCCATCCCACACCCCTCACACCCGCAGAC ACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02300.hp1 NA19058.hp2 others(1): Show HG01192.hp2 HG02300.hp1 NA19058.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0164 others(1): Show a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0164 a0001c0002t0002g0182	4	280	0.0143	192	c.-5+ others(205): Show c.-5+674_-5+675insAGGATGGGCTCACGCTCTGGGGTGCGGCTCCC GTGGTCCCCGTGTCTGCGGGTGTGAGGGGTGTGGGATGGACTCACGCTCT GGGGTGTGGCTCCCGTGGTCCCCTTGTCTGCGGGTGTGAGGGGTGTGGGA TGGGCTCACGCTCTGGGGTGCGGCTCCCGTGGTCCCCATGTCTGCGGGTG TGAGGGGTGT	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TTLL1_chr22_43034516_43094391	43079227	C C	CACACCCC others(185): Show CACACCCCTCACACCCGCAGACATGGGGACCATGGGAGCCGCACCCCAGA GCGTGAGCCCATCCCACACCCCTCACACCCGCAGACAAGGGGACCACGGG AGCCACACCCCAGAGCGTGAGTCCATCCCACACCCCTCACACCCGCAGAC ACGGGGACCACGGGAGCCGCACCCCAGAGCGTGAGCCCATCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(74): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02148.hp2 HG02523.hp1 HG02615.hp2 HG02738.hp1 HG02818.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18994.hp2 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0005 a0001c0003t0003 a0001c0004t0005 a0001c0005t0003 a0001c0007t0003 a0001c0007t0009	a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0146 others(73): Show a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0003g0091 a0001c0001t0003g0154 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0002t0002g0004 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0103 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0143 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0163 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0005g0128 a0001c0002t0005g0158 a0001c0002t0005g0173 a0001c0003t0003g0161 a0001c0003t0003g0174 a0001c0004t0005g0168 a0001c0005t0003g0108 a0001c0005t0003g0113 a0001c0005t0003g0117 a0001c0005t0003g0148 a0001c0005t0003g0175 a0001c0005t0003g0194 a0001c0007t0003g0147 a0001c0007t0003g0149 a0001c0007t0003g0172 a0001c0007t0009g0118	77	353	0.2181	192	c.-5+ others(205): Show c.-5+674_-5+675insAGGATGGGCTCACGCTCTGGGGTGCGGCTCCC GTGGTCCCCGTGTCTGCGGGTGTGAGGGGTGTGGGATGGACTCACGCTCT GGGGTGTGGCTCCCGTGGTCCCCTTGTCTGCGGGTGTGAGGGGTGTGGGA TGGGCTCACGCTCTGGGGTGCGGCTCCCATGGTCCCCATGTCTGCGGGTG TGAGGGGTGT	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	2/10			chr22	TogoVar
TUBA8_chr22_18105809_18136732	18106693	G G	GGAGAGCT others(185): Show GGAGAGCTGAATACGTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGG AGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAG AGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03579.hp1 HG02145.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0215 a0001c0001t0004g0202 a0001c0001t0002g0215 a0001c0001t0004g0202	2	274	0.0073	192	c.-41 others(203): Show c.-4173_-4172insGAGAGCTGAATACGTAGTTCCAGTCGGAGTCTGA AGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAG CCCGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAGCC TGAGACCCACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTG AGACCCAC	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4115		chr22	TogoVar
TUBA8_chr22_18105809_18136732	18106693	G G	GGAGAGCT others(185): Show GGAGAGCTGAATACGTAGTTCCAGTCTGAGTCTGAAGCCTGAGTTCCAGG AGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAG AGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(147): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02132.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(101): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0115 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0059 a0001c0001t0003g0018 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0309 a0001c0001t0004g0190 a0001c0001t0007g0279 a0001c0002t0001g0004 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0160 a0001c0002t0001g0225 a0001c0002t0001g0244 a0001c0002t0001g0253 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0296 a0001c0002t0001g0301 a0001c0012t0001g0003	150	422	0.3555	192	c.-41 others(203): Show c.-4173_-4172insGAGAGCTGAATACGTAGTTCCAGTCTGAGTCTGA AGCCTGAGTTCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAG CCCGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAGCC TGAGACCCACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTG AGACCCAC	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4115		chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870189	A A	ACCCCATA others(185): Show ACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	295	0.0034	192	c.35 others(211): Show c.35+21457_*35+21458insCCCATACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(185): Show TATATACACAAGTGTGTATATACGCATACACACACATATGTGTGTGTATA CGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTG TGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACATA TGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	22	0.0455	192	c.-38 others(203): Show c.-3848_-3847insATATACACAAGTGTGTATATACGCATACACACAC ATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATAC ACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATAC GCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGT GTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(185): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01517.hp2 HG02040.hp2 others(2): Show HG00140.hp2 HG01517.hp2 HG02040.hp2 NA18987.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0001 a0001c0001t0001g0028	5	26	0.1923	192	c.-38 others(203): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(185): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	22	0.0455	192	c.-38 others(203): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGT GTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(185): Show TATATACACAAGTGTGTATATACGTATATACACACGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0178 a0005c0007t0001g0178	1	22	0.0455	192	c.-38 others(203): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAC GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGT GTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355930	C C	CACACATA others(185): Show CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACACATATG TGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0091 a0001c0001t0012g0091	1	263	0.0038	192	c.-37 others(203): Show c.-3786_-3785insACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGT ATACGCAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3669		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370891	A A	ATATGTGT others(185): Show ATATGTGTGTGTGTGCGTGTGTGTATGTGCGTGTGTATATGCGTGTGTGT ATGCGTGTGTATATGCGTGTGTGTATGCGTGTGTGTATGTGTGTGTGTAT GTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGC GTGTGTGTATGCGTGTGTGTATGCGTGTGTGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0187 a0002c0002t0017g0187	1	437	0.0023	192	c.-6- others(207): Show c.-6-2820_-6-2819insTGTGTGTGTGCGTGTGTGTATGTGCGTGTG TATATGCGTGTGTGTATGCGTGTGTATATGCGTGTGTGTATGCGTGTGTG TATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATG TGTGTGTGTATATGCGTGTGTGTATGCGTGTGTGTATGCGTGTGTGTATG TGTGTGTGTATG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC13A_chr19_17596336_17693354	17631081	T T	TTCCTTCC others(185): Show TTCCTTCCTTCCTTCCTTCCTTCTTCAGATAAACTGCCCATGGCAAGTGG GTTTATTCTCTGAGTCCTCCGTCCATCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCTTCAGATAAGCTGCCCATGGCAAGTGGGT TTATTCTCTGAGTCCTCCGTCCATCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02257.hp2 others(9): Show HG01109.hp2 HG01884.hp2 HG02257.hp2 HG02280.hp2 HG02572.hp1 HG03098.hp2 HG03130.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0027 others(1): Show a0001c0002 a0001c0004 a0001c0027 a0001c0063	a0001c0002t0010 a0001c0002t0011 a0001c0002t0032 others(5): Show a0001c0002t0010 a0001c0002t0011 a0001c0002t0032 a0001c0004t0010 a0001c0004t0011 a0001c0004t0049 a0001c0027t0002 a0001c0063t0002	a0001c0002t0010g0069 a0001c0002t0011g0039 a0001c0002t0011g0064 others(9): Show a0001c0002t0010g0069 a0001c0002t0011g0039 a0001c0002t0011g0064 a0001c0002t0011g0184 a0001c0002t0011g0287 a0001c0002t0032g0098 a0001c0004t0010g0056 a0001c0004t0010g0242 a0001c0004t0011g0055 a0001c0004t0049g0317 a0001c0027t0002g0044 a0001c0063t0002g0104	12	308	0.0390	192	c.342 others(209): Show c.3429-332_3429-331insGGGAGGGAGGGAGGGAAGGATGGACGGA GGACTCAGAGAATAAACCCACTTGCCATGGGCAGCTTATCTGAAGAAGGA AGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGATGGACGGAGG ACTCAGAGAATAAACCCACTTGCCATGGGCAGTTTATCTGAAGAAGGAAG GAAGGAAGGAAGGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UPF3A_chr13_114276601_114310817	114295302	G G	GCTGGCGT others(185): Show GCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGC TCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTG GCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGT CTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	401	0.0025	192	c.846 others(209): Show c.846+3515_846+3516insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCAGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGC GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295308	C C	CTGCTCCC others(185): Show CTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCGTGC TCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAG CAGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	346	0.0029	192	c.847 others(209): Show c.847-3510_847-3509insGGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCGTGCT CCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGC AGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(185): Show AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCT CTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCT CGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0310 a0008c0012t0001g0310	1	304	0.0033	192	c.847 others(209): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGC GGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(185): Show AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCT CTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCT CGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	304	0.0033	192	c.847 others(209): Show c.847-3405_847-3404insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGC GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(185): Show AGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGCAGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCT CTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCT CGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0072 a0003c0003t0001g0072	1	304	0.0033	192	c.847 others(209): Show c.847-3501_847-3500insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGC GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(185): Show AGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCT CTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCT CGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	304	0.0033	192	c.847 others(209): Show c.847-3501_847-3500insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGC GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	C C	CTGCTCCC others(185): Show CTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGC TCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAG CGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0357 a0002c0002t0001g0357	1	349	0.0029	192	c.847 others(209): Show c.847-3437_847-3436insCTGCTCCCCAGCTCGTCTCCAGCAGCTC TGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGC GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(185): Show GTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGC TCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAG CAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0120 a0003c0003t0001g0120	1	287	0.0035	192	c.847 others(209): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGC AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCC AGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(185): Show GTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGC TCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAG CGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01433.hp1 HG00140.hp2 HG01433.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0314 a0009c0010t0001g0375 a0001c0001t0001g0314 a0009c0010t0001g0375	2	288	0.0069	192	c.847 others(209): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGC GGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCC AGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(185): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGC TCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAG CGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	287	0.0035	192	c.847 others(209): Show c.847-3400_847-3399insCCCCAGCTCGTCTCCAGCGGCTCTGGCG TGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGC GGCTCTGGCCTGCT	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
USP14_chr18_153557_219629	180923	C C	CTCACGTT others(185): Show CTCACGTTACAGCACACGTAACACCTCATTCCTATTTTATGGCTGAATAG TATTTCATGGTTCATTCACGTTACAGCACACGTAACACCTCATTCCTATT TTATGGCTGAATAGTATTTCATGGTTCACTCACGTTACAGCACACGTAAC ACCTCATTCCTATTTTATGGCTGAATAGTATTTCATGGTTCAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	150	0.0067	192	c.404 others(207): Show c.404+651_404+652insCGTTACAGCACACGTAACACCTCATTCCTA TTTTATGGCTGAATAGTATTTCATGGTTCACTCACGTTACAGCACACGTA ACACCTCATTCCTATTTTATGGCTGAATAGTATTTCATGGTTCATTCACG TTACAGCACACGTAACACCTCATTCCTATTTTATGGCTGAATAGTATTTC ATGGTTCATTCA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP14_chr18_153557_219629	219172	C C	CAAAAATA others(185): Show CAAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATA AAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAA ATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTG GTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 NA18906.hp2 HG02559.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0229 a0001c0002t0022g0230 a0001c0002t0022g0229 a0001c0002t0022g0230	2	25	0.0800	192	c.78 others(203): Show c.7888_*7889insAAAAATAACCAGTGAGGATGGCATATACTCTTAA TAATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTC CCTGAGCGGTACAAAATAACCAGTGAGGATGGCATATACTCTTAATAATA AATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGA GCGGTACA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding		4544		chr18	TogoVar
VAV2_chr9_133756894_133997324	133827168	C C	CCTACCGC others(185): Show CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGC TACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCACCTACC GCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0192 a0001c0006t0009g0192	1	196	0.0051	192	c.449 others(209): Show c.449+7103_449+7104insCTGGCGATGCCCGTGCTCAGTGGTCAGC CCCAGTGGGCACAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCC CAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCA GTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGT GGGCGCAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827562	C C	CGCCCACT others(185): Show CGCCCACTGAGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGTG CCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGTGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0044 a0001c0002t0017g0044	1	159	0.0063	192	c.449 others(209): Show c.449+6709_449+6710insACAGCGGTAGCTGGCGATGCCCGTGCTC AGTGGTCAGCCCCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAG TGGTCAGCCCCAGTGGGCACAGCGGTAGGTGGTGATGCCCGTGCTCAGTG GTCAGCCCCAGTGGGCACAGCGGTAGGTGGTGATGCCCGTGCTCAGTGGT CAGCCTCAGTGGGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827562	C C	CGCCCACT others(185): Show CGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCA CTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0024 a0001c0021t0024	a0001c0021t0024g0021 a0001c0021t0024g0021	1	159	0.0063	192	c.449 others(209): Show c.449+6709_449+6710insACAGCAGTAGCTGGCGATGCCCGTGCTC AGTGGTCAGCCTCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAG TGGTCAGCCCCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTG GTCAGCCCCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGT CAGCCCCAGTGGGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827972	C C	CGGGCATC others(185): Show CGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACG GGCACCACCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCACCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCA TCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0057 a0001c0006t0002g0057	1	187	0.0053	192	c.449 others(209): Show c.449+6299_449+6300insCCACTCAGTGGTCAGCCCCAGTGGGCGC AGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAG CGGTAGCTGGTGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCG GTAGCTGGTGGTGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGT AGGTGGTGATGCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827972	C C	CGGGCATC others(185): Show CGGGCATCACCACCTACCGCTGTGCCCACTGGGGCTGACCACTGAGCACG GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCGCCAGCTACCGCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCA TCGCCAGCTACCGCTGTGCCCACTGAGGCTGACCACTGAGTGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0018 a0001c0002t0017g0018	1	187	0.0053	192	c.449 others(209): Show c.449+6299_449+6300insCCACTCAGTGGTCAGCCTCAGTGGGCAC AGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAG CGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCG GTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCACAGCGGT AGGTGGTGATGCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828356	C C	CGGGCATC others(185): Show CGGGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACG GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCA TCGCCAGCTACCGCTGTGCCCACTGAGGCTGACCACTGAGTGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0181 a0001c0002t0003g0181	1	193	0.0052	192	c.449 others(209): Show c.449+5915_449+5916insCCACTCAGTGGTCAGCCTCAGTGGGCAC AGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAG CGGTAGGTGGTGATGCCCCCACTCAGTGGTCAGCCCCAGTGGGCGCAGCG GTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGT AGCTGGCGATGCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828474	C C	CGCCCACT others(185): Show CGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCC CACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0153 a0002c0001t0001g0153	1	187	0.0053	192	c.449 others(209): Show c.449+5797_449+5798insACAGCGGTAGCTGGCGATGCCCGTGCTC AGTGGTCAGCCCCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAG TGGTCAGCCTCAGTGGGCACAGCAGTAGCTGGCGATGCCCGTGCTCAGTG GTCAGCCCCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGT CAGCCCCAGTGGGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCX2_chrX_8164944_8176267	8169592	T T	TCTTCCTT others(185): Show TCTTCCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0032 a0002c0001t0001g0032	1	106	0.0094	192	c.43 others(201): Show c.439_*440insGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGGAAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		351		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466800	A A	AGGAAGAG others(185): Show AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	254	0.0039	192	c.41 others(201): Show c.417_*418insGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		291		chrX	TogoVar
VCX_chrX_7838171_7849143	7844254	A A	AGGGAGGA others(185): Show AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	257	0.0039	192	c.23 others(201): Show c.238_*239insGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		112		chrX	TogoVar
VCX_chrX_7838171_7849143	7844254	A A	AGGGAGGA others(185): Show AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	257	0.0039	192	c.23 others(201): Show c.238_*239insGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG GAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		112		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(185): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19003.hp1 HG04115.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0069 a0001c0002t0001g0001 a0001c0002t0001g0069	2	178	0.0112	192	c.53+ others(207): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS8_chr3_184807166_185057604	184895627	T T	TCCCCCCC others(185): Show TCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0076 a0004c0003t0001g0076	1	269	0.0037	192	c.200 others(209): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar

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