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
TPO_chr2_1408463_1548673	1490218	AGGGTCCC others(43): Show AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCTGCCACG T	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02683.hp1 HG02040.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0029 a0001c0004t0001g0107 a0001c0001t0002g0029 a0001c0004t0001g0107	2	130	0.0154	-50	c.176 others(69): Show c.1768+2270_1768+2319delTGCCACGTGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490318	AGGGTCCC others(43): Show AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG T	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA19058.hp2 NA20752.hp1 HG00733.hp1 NA19058.hp2 NA20752.hp1	a0003 a0004 a0016 a0003 a0004 a0016	a0003c0003 a0004c0007 a0016c0029 a0003c0003 a0004c0007 a0016c0029	a0003c0003t0004 a0004c0007t0004 a0016c0029t0001 a0003c0003t0004 a0004c0007t0004 a0016c0029t0001	a0003c0003t0004g0035 a0004c0007t0004g0109 a0016c0029t0001g0099 a0003c0003t0004g0035 a0004c0007t0004g0109 a0016c0029t0001g0099	3	130	0.0231	-50	c.176 others(69): Show c.1768+2377_1768+2426delTGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPP2_chr13_102591986_102684958	102652397	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	366	0.0027	-50	c.299 others(69): Show c.2991+1008_2991+1057delTATATATATATATATATATATATATA TATATATATATATATATATATATA	TPP2	ENSG00000134900.13	transcript	ENST00000376052.5	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
TPRG1_chr3_189166971_189330304	189312093	CTTTGTTT others(43): Show CTTTGTTTCTTTGTTTCTTTCTTTGTTTCTTTCTTTCTTTCTTTCTTTCT T	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0025 a0001c0001t0041g0025	1	288	0.0035	-50	c.633 others(67): Show c.633+1556_633+1605delTTGTTTCTTTGTTTCTTTCTTTGTTTCT TTCTTTCTTTCTTTCTTTCTTT	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRIM16_chr17_15622966_15689311	15637314	GCCCGGCC others(43): Show GCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCT A	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0086 a0001c0007t0001g0086	1	360	0.0028	-50	c.616 others(67): Show c.616-1095_616-1046delTAGGGGGGCTGACCCCCCCATCTCCCTC CCGGACGGGGTGGCTGGCCGGG	TRIM16	ENSG00000221926.13	transcript	ENST00000649191.2	protein_coding	8/11			chr17	TogoVar
TRIM40_chr6_30131140_30153728	30133185	ATGCCTGG others(43): Show ATGCCTGGCCAAGCTTTTTTTTTTTTAATGTATCAATTTATGTTGGAGAT T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	459	0.0022	-50	c.-33 others(61): Show c.-3308_-3259delTGCCTGGCCAAGCTTTTTTTTTTTTAATGTATCA ATTTATGTTGGAGATT	TRIM40	ENSG00000204614.9	transcript	ENST00000396581.6	protein_coding		2954		chr6	TogoVar
TRIM4_chr7_99885403_99924530	99887942	AACCCCCC others(43): Show AACCCCCCACCTCCCTCCCGGACCGGGCGGCTGGCCGGGCGGGGGGCTGA C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	322	0.0031	-50	c.41 others(61): Show c.4171_*4220delGTCAGCCCCCCGCCCGGCCAGCCGCCCGGTCCGG GAGGGAGGTGGGGGGT	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2460		chr7	TogoVar
TRIM62_chr1_33140399_33187043	33174903	GTGTATAT others(43): Show GTGTATATATATATATACACACACACACATACATATATGTGTGTATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20129.hp2 HG02809.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	340	0.0059	-50	c.408 others(67): Show c.408+6072_408+6121delTATATATACACACATATATGTATGTGTG TGTGTGTATATATATATATACA	TRIM62	ENSG00000116525.14	transcript	ENST00000291416.10	protein_coding	1/4			chr1	TogoVar
TRIML1_chr4_188134441_188152743	188152333	GGTGAGAA others(43): Show GGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGG T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0147 a0002c0011t0002g0147	1	228	0.0044	-50	c.49 others(61): Show c.4962_*5011delGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGG AAGTGAGAGTGGGGGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4591		chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35000809	CTTGGCCC others(43): Show CTTGGCCCAGCTGAGCGGGGAGGTGGAGGAGGCTGCACAGGAGAGGCGGG A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0331 a0001c0001t0010g0331	1	334	0.0030	-50	c.22 others(61): Show c.2287_*2336delTCCCGCCTCTCCTGTGCAGCCTCCTCCACCTCCC CGCTCAGCTGGGCCAA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		1594		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097533	GTACACAC others(43): Show GTACACACGTGTGTATATATACATATGTACACACGTGTGTATATATACAT A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01346.hp1 others(1): Show HG00733.hp1 HG01069.hp1 HG01346.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0063 a0001c0002t0001g0077 others(1): Show a0001c0002t0001g0049 a0001c0002t0001g0063 a0001c0002t0001g0077 a0001c0002t0001g0080	4	334	0.0120	-50	c.-48 others(61): Show c.-4802_-4753delTATGTATATATACACACGTGTGTACATATGTATA TATACACACGTGTGTA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4727		chr20	TogoVar
TRPM8_chr2_233912373_234024522	233927823	CCTTCCTT others(43): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTT T	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0177 a0001c0004t0007g0177	1	322	0.0031	-50	c.117 others(67): Show c.117+1173_117+1222delCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCTTTCTCTTTCTTTCTTTCTT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM8_chr2_233912373_234024522	233927831	CCTTCCTT others(43): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCTT T	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18968.hp1 NA19088.hp2 HG02132.hp1 NA18968.hp1 NA19088.hp2	a0003 a0014 a0015 a0003 a0014 a0015	a0003c0005 a0014c0018 a0015c0020 a0003c0005 a0014c0018 a0015c0020	a0003c0005t0003 a0014c0018t0039 a0015c0020t0020 a0003c0005t0003 a0014c0018t0039 a0015c0020t0020	a0003c0005t0003g0307 a0014c0018t0039g0163 a0015c0020t0020g0162 a0003c0005t0003g0307 a0014c0018t0039g0163 a0015c0020t0020g0162	3	322	0.0093	-50	c.117 others(67): Show c.117+1181_117+1230delCCTTCCTTCCTTCCTTCCTTTCTTTCTC TTTCTTTCTTTCTTTCTTTCTT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM8_chr2_233912373_234024522	233927835	CCTTCCTT others(43): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT T	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp2 HG01109.hp2 others(5): Show HG00140.hp1 HG01071.hp2 HG01109.hp2 HG01257.hp2 HG01258.hp2 HG02602.hp1 NA18942.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0011 others(1): Show a0001c0001 a0003c0005 a0003c0011 a0003c0019	a0001c0001t0003 a0003c0005t0001 a0003c0005t0002 others(3): Show a0001c0001t0003 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0011t0003 a0003c0019t0001	a0001c0001t0003g0169 a0003c0005t0001g0154 a0003c0005t0001g0156 others(5): Show a0001c0001t0003g0169 a0003c0005t0001g0154 a0003c0005t0001g0156 a0003c0005t0002g0155 a0003c0005t0003g0161 a0003c0011t0003g0168 a0003c0011t0003g0172 a0003c0019t0001g0160	8	322	0.0248	-50	c.117 others(67): Show c.117+1185_117+1234delCCTTCCTTCCTTCCTTTCTTTCTCTTTC TTTCTTTCTTTCTTTCTTTCTT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM8_chr2_233912373_234024522	233927839	CCTTCCTT others(43): Show CCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19004.hp1 NA18612.hp1 NA19004.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0164 a0003c0005t0002g0165 a0003c0005t0002g0164 a0003c0005t0002g0165	2	322	0.0062	-50	c.117 others(67): Show c.117+1189_117+1238delCCTTCCTTCCTTTCTTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPV6_chr7_142866208_142890745	142890654	ACACACAC others(43): Show ACACACACCTGCGCGCACACACACACCTGCAGACACACACACCTGCACAC G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	265	0.0038	-50	c.-50 others(61): Show c.-5068_-5019delCGTGTGCAGGTGTGTGTGTCTGCAGGTGTGTGTG TGCGCGCAGGTGTGTG	TRPV6	ENSG00000165125.22	transcript	ENST00000359396.9	protein_coding		4910	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
TSC2_chr16_2042985_2094491	2091243	GCTGCCGG others(43): Show GCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGC C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG02735.hp2 others(2): Show HG00639.hp2 HG01346.hp1 HG02735.hp2 HG03710.hp1 NA20752.hp2	a0001 a0001	a0001c0008 a0001c0014 a0001c0008 a0001c0014	a0001c0008t0009 a0001c0014t0009 a0001c0008t0009 a0001c0014t0009	a0001c0008t0009g0029 a0001c0008t0009g0030 a0001c0008t0009g0033 others(2): Show a0001c0008t0009g0029 a0001c0008t0009g0030 a0001c0008t0009g0033 a0001c0008t0009g0064 a0001c0014t0009g0194	5	318	0.0157	-50	c.26 others(61): Show c.2634_*2683delCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACG CTGCCGGGGCGGGGCC	TSC2	ENSG00000103197.19	transcript	ENST00000219476.9	protein_coding		1753		chr16	TogoVar
TSNARE1_chr8_142207080_142408182	142326442	CGAACCAG others(43): Show CGAACCAGCACCAGCGAAGGGGAGGGCCCCGGAGGGCATGAGACAGATGA G	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA20300.hp2 HG01975.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0142 a0002c0002t0001g0143	2	238	0.0084	-50	c.893 others(67): Show c.893+4409_893+4458delCTCATCTGTCTCATGCCCTCCGGGGCCC TCCCCTTCGCTGGTGCTGGTTC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	6/13			chr8	TogoVar
TSPAN10_chr17_81632196_81653749	81652803	ATCCTAGG others(43): Show ATCCTAGGGGGCTACTTTGGCAGGTATTAAAACTTTTTTTTAGGCCGGGC G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-50	c.45 others(61): Show c.4510_*4559delTCCTAGGGGGCTACTTTGGCAGGTATTAAAACTT TTTTTTAGGCCGGGCG	TSPAN10	ENSG00000182612.11	transcript	ENST00000611590.2	protein_coding		4055		chr17	TogoVar
TSPAN4_chr11_837852_872111	859434	CGGCTCAC others(43): Show CGGCTCACACGCACCCCCCTCACACGCACCCCGGGCTCACACGCACCCCG G	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	394	0.0025	-50	c.64- others(65): Show c.64-3114_64-3065delGCTCACACGCACCCCCCTCACACGCACCCC GGGCTCACACGCACCCCGGG	TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN9_chr12_3072379_3291559	3226710	GTGTATGT others(43): Show GTGTATGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0212 a0001c0001t0107g0212	1	288	0.0035	-50	c.63+ others(67): Show c.63+25456_63+25505delGTATGTATGTGTGTGTGTGTGTGTGTGT GTGTGTATATATATATATATAT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3226712	GTATGTAT others(43): Show GTATGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04115.hp1 HG03239.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0098 a0001c0001t0042 a0001c0002t0098	a0001c0001t0042g0124 a0001c0002t0098g0198 a0001c0001t0042g0124 a0001c0002t0098g0198	2	288	0.0069	-50	c.63+ others(67): Show c.63+25460_63+25509delGTATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATAT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3226716	GTATGTGT others(43): Show GTATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01123.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01123.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0209 a0001c0001t0007g0135 a0001c0001t0007g0208 others(1): Show a0001c0001t0001g0209 a0001c0001t0007g0135 a0001c0001t0007g0208 a0001c0001t0008g0111	4	288	0.0139	-50	c.63+ others(67): Show c.63+25464_63+25513delGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATATATATATATATATATAT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3226720	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03486.hp2 HG01952.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0048 a0001c0001t0016 a0001c0001t0048	a0001c0001t0016g0273 a0001c0001t0048g0068 a0001c0001t0016g0273 a0001c0001t0048g0068	2	288	0.0069	-50	c.63+ others(67): Show c.63+25466_63+25515delGTGTGTGTGTGTGTGTGTGTGTGTATAT ATATATATATATATATATATAT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTC21B_chr2_165868362_165958776	165927122	ATATATAT others(43): Show ATATATATATATATATCCTAGTAGTTATATATATATATATATCCTAACAG T	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	408	0.0025	-50	c.138 others(69): Show c.1386+1963_1386+2012delACTGTTAGGATATATATATATATATA ACTACTAGGATATATATATATATA	TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	11/28			chr2	TogoVar
TTC27_chr2_32623050_32826051	32754777	CCTCCCCC others(43): Show CCTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCTG A	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0312 a0001c0002t0001g0312	1	324	0.0031	-50	c.145 others(69): Show c.1453-3513_1453-3464delTCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCTGGGCGGGGGGGCTGAC	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32754828	CCCCCCCC others(43): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGCTG A	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02273.hp2 HG02257.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0013 a0001c0002t0001g0239 a0001c0001t0001g0013 a0001c0002t0001g0239	2	324	0.0062	-50	c.145 others(69): Show c.1453-3456_1453-3407delACCTCCCTCCCGGACGGGGCGGCTGG CCAGGCGGGGGGGCTGACCCCCCC	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC39C_chr18_24009754_24140600	24023933	CATATATA others(43): Show CATATATATATATGCATGTATATATATATATATATATATATATATATACA T	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp1 HG02451.hp2 others(3): Show HG00544.hp1 HG01109.hp1 HG02451.hp2 HG02723.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0031 a0001c0001t0061 a0001c0001t0070	a0001c0001t0003g0011 a0001c0001t0006g0109 a0001c0001t0019g0098 others(3): Show a0001c0001t0003g0011 a0001c0001t0006g0109 a0001c0001t0019g0098 a0001c0001t0031g0030 a0001c0001t0061g0010 a0001c0001t0070g0009	6	328	0.0183	-50	c.167 others(67): Show c.167+8908_167+8957delGCATGTATATATATATATATATATATAT ATATATACATATATATATATAT	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTLL11_chr9_121810674_122098308	121826487	ATATATAT others(43): Show ATATATATGTGTGTGTATATATATATATGTATATATATATATGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	174	0.0058	-50	c.184 others(69): Show c.1841-3658_1841-3609delCACACACACATATATATATATACATA TATATATATACACACACATATATA	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	8/8			chr9	TogoVar
TTLL11_chr9_121810674_122098308	121971394	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0164 a0003c0002t0004g0164	1	174	0.0058	-50	c.148 others(69): Show c.1481+2565_1481+2614delCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCC	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TUSC3_chr8_15535263_15771638	15639260	CGATGCTA others(43): Show CGATGCTAGATCACATGATGTTCAGAGCTTCAGTGATGATGATCATGTGT T	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0160 a0001c0001t0008g0160	1	372	0.0027	-50	c.309 others(69): Show c.309-11423_309-11374delATGATGTTCAGAGCTTCAGTGATGAT GATCATGTGTTGATGCTAGATCAC	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TXLNB_chr6_139235061_139296998	139288932	AGGCTTTA others(43): Show AGGCTTTATGTAGCTAACCTACTTGCTACATATCAATGCTACATTTCAAT G	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0147 a0004c0005t0002g0147	1	294	0.0034	-50	c.-14 others(63): Show c.-14-69_-14-20delCATTGAAATGTAGCATTGATATGTAGCAAGTA GGTTAGCTACATAAAGCC	TXLNB	ENSG00000164440.15	transcript	ENST00000358430.8	protein_coding	1/9			chr6	TogoVar
TXNDC16_chr14_52425596_52557505	52529676	ATATATAT others(43): Show ATATATATAATGCCTATTATATATAATATATATAATGCCTATTATATATA T	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 NA18957.hp2 others(2): Show HG01168.hp1 HG01169.hp1 NA18957.hp2 NA18966.hp1 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0058 a0002c0003t0005g0059 a0002c0003t0005g0061 others(2): Show a0002c0003t0005g0058 a0002c0003t0005g0059 a0002c0003t0005g0061 a0002c0003t0005g0062 a0002c0003t0005g0063	5	238	0.0210	-50	c.392 others(67): Show c.392+6993_392+7042delATATATATAATAGGCATTATATATATTA TATATAATAGGCATTATATATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNL4A_chr18_79965813_79993563	79991891	GGTGGTCG others(43): Show GGTGGTCGGGGCACAGCTTAGTTTTATACATTTTAGGGAGGCATGAGACA T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	1	390	0.0026	-50	c.-35 others(61): Show c.-3549_-3500delATGTCTCATGCCTCCCTAAAATGTATAAAACTAA GCTGTGCCCCGACCAC	TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding		3329		chr18	TogoVar
TXNRD1_chr12_104210779_104355307	104323585	ACCCCCAC others(43): Show ACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCTGAC C	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(112): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01361.hp2 HG01515.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG02129.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(112): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0085 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0007g0207 a0001c0001t0008g0209 a0001c0001t0009g0037 a0001c0003t0001g0088 a0001c0004t0001g0092	115	302	0.3808	-50	c.121 others(69): Show c.1216-1735_1216-1686delAGACGGGGCGGCTGGCCGGGCAGGGG GGCTGACCCCCCCACCTCCCTCCC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TYW1_chr7_66991833_67244514	67184613	TTTTATTT others(43): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATGTTATGTTAT G	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01070.hp2 others(6): Show HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG03490.hp1 NA18970.hp1 NA18975.hp1 NA19043.hp2	a0002 a0011 a0002 a0011	a0002c0004 a0011c0020 a0002c0004 a0011c0020	a0002c0004t0002 a0002c0004t0004 a0011c0020t0008 a0002c0004t0002 a0002c0004t0004 a0011c0020t0008	a0002c0004t0002g0283 a0002c0004t0004g0288 a0002c0004t0004g0290 others(6): Show a0002c0004t0002g0283 a0002c0004t0004g0288 a0002c0004t0004g0290 a0002c0004t0004g0292 a0002c0004t0004g0296 a0002c0004t0004g0356 a0002c0004t0004g0357 a0002c0004t0004g0361 a0011c0020t0008g0213	9	364	0.0247	-50	c.180 others(69): Show c.1809+1380_1809+1429delTATTTTATTTTATTTTATTTTATTTT ATTTTATTTATGTTATGTTATGTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
U2SURP_chr3_142996570_143065725	143047569	GGGGGGCT others(43): Show GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC A	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0112 a0001c0001t0006g0112	1	378	0.0027	-50	c.254 others(69): Show c.2545-3353_2545-3304delCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCC	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2Z_chr17_48903407_48934056	48933862	TTCCAACA others(43): Show TTCCAACATCCAGACAGCGGTCAAAGATACACCTGCAGATGCCCATCAGG A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	330	0.0030	-50	c.67 others(61): Show c.6729_*6778delTCCAACATCCAGACAGCGGTCAAAGATACACCTG CAGATGCCCATCAGGA	UBE2Z	ENSG00000159202.18	transcript	ENST00000360943.10	protein_coding		4807		chr17	TogoVar
UBE4A_chr11_118354600_118404211	118355430	CGTATATG others(43): Show CGTATATGTGTATATATACACATATACGTATATGTATATATACATATATG T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	320	0.0031	-50	c.-42 others(61): Show c.-4285_-4236delGTATATGTGTATATATACACATATACGTATATGT ATATATACATATATGT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		4169		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355540	CATATGTA others(43): Show CATATGTATATATACACATATACACATATGTATATATACACATATACACA T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01106.hp2 others(5): Show HG00408.hp1 HG00735.hp2 HG01106.hp2 NA18944.hp1 NA18981.hp1 NA18982.hp1 NA18985.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0037 a0001c0001t0005g0240 a0001c0001t0005g0241 others(4): Show a0001c0001t0005g0037 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0015g0242	8	320	0.0250	-50	c.-41 others(61): Show c.-4175_-4126delATATGTATATATACACATATACACATATGTATAT ATACACATATACACAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		4059		chr11	TogoVar
UBL3_chr13_29759371_29855617	29835089	AATATATA others(43): Show AATATATATATATATATAAATATATATATATATATAAATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	392	0.0026	-50	c.27+ others(67): Show c.27+14373_27+14422delATATATATATATATTTATATATATATAT ATATTTATATATATATATATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBTD1_chr10_97493924_97576206	97528627	ACCCCCAC others(43): Show ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC C	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(269): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0003g0109 a0001c0001t0003g0159 a0001c0001t0003g0182 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0222 a0001c0001t0005g0001 a0001c0001t0005g0251 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0009g0149 a0001c0001t0010g0139 a0001c0003t0001g0145	275	314	0.8758	-50	c.70+ others(67): Show c.70+29453_70+29502delCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGAC	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
UGT2B4_chr4_69475165_69500905	69497564	AAAGATAA others(43): Show AAAGATAACTCAAATTAGAAGTGGAACTTGAAGACGTAAGTAAACTGCTG C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	436	0.0023	-50	c.-17 others(61): Show c.-1753_-1704delGCAGCAGTTTACTTACGTCTTCAAGTTCCACTTC TAATTTGAGTTATCTT	UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding		1660		chr4	TogoVar
ULK4_chr3_41241599_41967103	41856540	TATATATA others(43): Show TATATATATGTGTATATATATACACATATATATATGTGTATATATATACA C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG04184.hp2 HG01891.hp1 HG04184.hp2	a0002 a0015 a0002 a0015	a0002c0003 a0015c0015 a0002c0003 a0015c0015	a0002c0003t0001 a0015c0015t0001 a0002c0003t0001 a0015c0015t0001	a0002c0003t0001g0061 a0015c0015t0001g0005 a0002c0003t0001g0061 a0015c0015t0001g0005	2	72	0.0278	-50	c.165 others(71): Show c.1657-20619_1657-20570delGTGTATATATATACACATATATAT ATGTGTATATATATACACATATATAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36			chr3	TogoVar
UMODL1_chr21_42066317_42147996	42078147	AGGGCCAG others(43): Show AGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGGC G	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00597.hp1 others(92): Show HG00280.hp2 HG00544.hp1 HG00597.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02257.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18945.hp2 NA18948.hp1 NA18953.hp2 NA18979.hp1 NA18980.hp2 NA18994.hp1 NA18998.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(44): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0022 a0023 a0024 a0025 a0026 a0033 a0035 a0037 a0043 a0049 a0050 a0051 a0054 a0057 a0059 a0077 a0080 a0081 a0082 a0084 a0099 a0100 a0101 a0104 a0106 a0115 a0117 a0118 a0122 a0123 a0125	a0001c0001 a0001c0008 a0001c0020 others(60): Show a0001c0001 a0001c0008 a0001c0020 a0001c0053 a0002c0004 a0002c0005 a0002c0013 a0002c0023 a0002c0064 a0002c0201 a0002c0202 a0003c0003 a0003c0050 a0004c0032 a0004c0199 a0005c0002 a0006c0007 a0006c0038 a0007c0011 a0009c0027 a0010c0015 a0010c0184 a0011c0152 a0012c0139 a0013c0019 a0014c0009 a0016c0017 a0017c0200 a0018c0034 a0022c0081 a0023c0118 a0024c0031 a0024c0121 a0025c0029 a0025c0162 a0026c0106 a0033c0105 a0035c0035 a0037c0172 a0043c0116 a0043c0117 a0049c0055 a0050c0143 a0051c0151 a0054c0042 a0057c0204 a0059c0168 a0077c0164 a0080c0115 a0081c0114 a0082c0160 a0084c0119 a0099c0099 a0100c0100 a0101c0147 a0104c0148 a0106c0133 a0115c0130 a0117c0136 a0118c0137 a0122c0181 a0123c0087 a0125c0144	a0001c0001t0005 a0001c0008t0001 a0001c0020t0001 others(68): Show a0001c0001t0005 a0001c0008t0001 a0001c0020t0001 a0001c0053t0005 a0002c0004t0001 a0002c0004t0003 a0002c0005t0001 a0002c0005t0005 a0002c0013t0010 a0002c0013t0032 a0002c0023t0001 a0002c0023t0003 a0002c0023t0005 a0002c0064t0011 a0002c0201t0010 a0002c0202t0004 a0003c0003t0027 a0003c0050t0001 a0004c0032t0002 a0004c0032t0024 a0004c0199t0002 a0005c0002t0002 a0006c0007t0004 a0006c0038t0038 a0007c0011t0001 a0009c0027t0001 a0010c0015t0001 a0010c0184t0009 a0011c0152t0003 a0012c0139t0020 a0013c0019t0006 a0013c0019t0021 a0014c0009t0008 a0016c0017t0002 a0017c0200t0028 a0018c0034t0001 a0022c0081t0004 a0023c0118t0001 a0024c0031t0001 a0024c0121t0001 a0025c0029t0001 a0025c0162t0012 a0026c0106t0001 a0033c0105t0001 a0035c0035t0001 a0035c0035t0003 a0037c0172t0001 a0043c0116t0001 a0043c0117t0001 a0049c0055t0004 a0050c0143t0003 a0051c0151t0002 a0054c0042t0001 a0057c0204t0001 a0059c0168t0020 a0077c0164t0001 a0080c0115t0002 a0081c0114t0001 a0082c0160t0002 a0084c0119t0013 a0099c0099t0002 a0100c0100t0003 a0101c0147t0001 a0104c0148t0042 a0106c0133t0033 a0115c0130t0005 a0117c0136t0003 a0118c0137t0009 a0122c0181t0005 a0123c0087t0002 a0125c0144t0025	a0001c0001t0005g0066 a0001c0001t0005g0138 a0001c0008t0001g0211 others(91): Show a0001c0001t0005g0066 a0001c0001t0005g0138 a0001c0008t0001g0211 a0001c0020t0001g0023 a0001c0020t0001g0037 a0001c0020t0001g0063 a0001c0053t0005g0038 a0002c0004t0001g0047 a0002c0004t0001g0051 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0129 a0002c0004t0001g0214 a0002c0004t0003g0136 a0002c0005t0001g0155 a0002c0005t0001g0329 a0002c0005t0005g0308 a0002c0013t0010g0027 a0002c0013t0010g0030 a0002c0013t0010g0031 a0002c0013t0010g0032 a0002c0013t0032g0062 a0002c0023t0001g0128 a0002c0023t0003g0048 a0002c0023t0005g0131 a0002c0064t0011g0289 a0002c0201t0010g0040 a0002c0202t0004g0055 a0003c0003t0027g0025 a0003c0050t0001g0074 a0004c0032t0002g0036 a0004c0032t0002g0057 a0004c0032t0024g0035 a0004c0199t0002g0084 a0005c0002t0002g0049 a0006c0007t0004g0045 a0006c0038t0038g0064 a0007c0011t0001g0028 a0009c0027t0001g0286 a0010c0015t0001g0072 a0010c0184t0009g0022 a0011c0152t0003g0212 a0012c0139t0020g0217 a0013c0019t0006g0061 a0013c0019t0021g0277 a0014c0009t0008g0142 a0014c0009t0008g0143 a0014c0009t0008g0144 a0016c0017t0002g0120 a0016c0017t0002g0126 a0016c0017t0002g0127 a0016c0017t0002g0132 a0016c0017t0002g0140 a0017c0200t0028g0137 a0018c0034t0001g0075 a0022c0081t0004g0039 a0023c0118t0001g0274 a0024c0031t0001g0009 a0024c0121t0001g0011 a0025c0029t0001g0004 a0025c0029t0001g0278 a0025c0162t0012g0123 a0026c0106t0001g0221 a0033c0105t0001g0050 a0035c0035t0001g0154 a0035c0035t0001g0280 a0035c0035t0003g0065 a0037c0172t0001g0071 a0043c0116t0001g0152 a0043c0117t0001g0230 a0049c0055t0004g0043 a0049c0055t0004g0046 a0050c0143t0003g0024 a0051c0151t0002g0020 a0054c0042t0001g0006 a0054c0042t0001g0008 a0057c0204t0001g0073 a0059c0168t0020g0150 a0077c0164t0001g0010 a0080c0115t0002g0153 a0081c0114t0001g0151 a0082c0160t0002g0041 a0084c0119t0013g0279 a0099c0099t0002g0109 a0100c0100t0003g0130 a0101c0147t0001g0018 a0104c0148t0042g0379 a0106c0133t0033g0070 a0115c0130t0005g0133 a0117c0136t0003g0213 a0118c0137t0009g0056 a0122c0181t0005g0337 a0123c0087t0002g0007 a0125c0144t0025g0156	95	400	0.2375	-50	c.319 others(67): Show c.319+1988_319+2037delTAGAAACCAGGCGGGGCCAGCTGACCCC AGAGCAACACCTCCATCACCAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078235	TAGAAACC others(43): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	T T	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0027 a0027	a0027c0194 a0027c0194	a0027c0194t0003 a0027c0194t0003	a0027c0194t0003g0183 a0027c0194t0003g0183	1	400	0.0025	-50	c.319 others(67): Show c.319+2050_319+2099delGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078297	GGGGCCAG others(43): Show GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC C	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19087.hp1 NA18941.hp2 NA19087.hp1	a0002 a0038 a0002 a0038	a0002c0004 a0038c0065 a0002c0004 a0038c0065	a0002c0004t0003 a0038c0065t0001 a0002c0004t0003 a0038c0065t0001	a0002c0004t0003g0146 a0038c0065t0001g0262 a0002c0004t0003g0146 a0038c0065t0001g0262	2	400	0.0050	-50	c.319 others(67): Show c.319+2100_319+2149delCGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078347	CGGGCCAG others(43): Show CGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC G	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0018 a0018	a0018c0034 a0018c0034	a0018c0034t0006 a0018c0034t0006	a0018c0034t0006g0085 a0018c0034t0006g0086 a0018c0034t0006g0085 a0018c0034t0006g0086	2	400	0.0050	-50	c.319 others(67): Show c.319+2193_319+2242delACCAGGCGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078446	CGGGGCCA others(43): Show CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGG T	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18955.hp2 NA18960.hp2 others(4): Show NA18943.hp2 NA18955.hp2 NA18960.hp2 NA18972.hp2 NA19009.hp2 NA19064.hp1 NA19088.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0093	a0001c0127 a0003c0046 a0008c0012 others(1): Show a0001c0127 a0003c0046 a0008c0012 a0093c0097	a0001c0127t0001 a0003c0046t0007 a0008c0012t0001 others(1): Show a0001c0127t0001 a0003c0046t0007 a0008c0012t0001 a0093c0097t0002	a0001c0127t0001g0304 a0003c0046t0007g0326 a0008c0012t0001g0222 others(4): Show a0001c0127t0001g0304 a0003c0046t0007g0326 a0008c0012t0001g0222 a0008c0012t0001g0223 a0008c0012t0001g0226 a0008c0012t0001g0227 a0093c0097t0002g0287	7	400	0.0175	-50	c.319 others(67): Show c.319+2243_319+2292delGCCAGGTGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078585	TAGAAACC others(43): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02129.hp2 HG01261.hp2 HG02129.hp2	a0004 a0007 a0004 a0007	a0004c0006 a0007c0011 a0004c0006 a0007c0011	a0004c0006t0002 a0007c0011t0005 a0004c0006t0002 a0007c0011t0005	a0004c0006t0002g0204 a0007c0011t0005g0149 a0004c0006t0002g0204 a0007c0011t0005g0149	2	400	0.0050	-50	c.319 others(67): Show c.319+2450_319+2499delGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar

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