Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TRIO_chr5_14138342_14515204	14511659	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03209.hp2 HG06807.hp2 HG02976.hp2 HG03209.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0008 a0001c0004 a0001c0005 a0001c0008	a0001c0004t0002 a0001c0005t0002 a0001c0008t0002 a0001c0004t0002 a0001c0005t0002 a0001c0008t0002	a0001c0004t0002g0182 a0001c0005t0002g0171 a0001c0008t0002g0096 a0001c0004t0002g0182 a0001c0005t0002g0171 a0001c0008t0002g0096	3	198	0.0152	-38	c.32 others(49): Show c.3238_*3275delTCTCTCTCTCTCTCTCTCTATATATATATATATA TATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1456		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511661	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG04228.hp1 HG02055.hp2 HG02723.hp2 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0020 a0001c0003 a0001c0005 a0001c0020	a0001c0003t0002 a0001c0005t0002 a0001c0020t0002 a0001c0003t0002 a0001c0005t0002 a0001c0020t0002	a0001c0003t0002g0130 a0001c0005t0002g0166 a0001c0020t0002g0117 a0001c0003t0002g0130 a0001c0005t0002g0166 a0001c0020t0002g0117	3	198	0.0152	-38	c.32 others(49): Show c.3240_*3277delTCTCTCTCTCTCTCTCTATATATATATATATATA TATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1458		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511663	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG02257.hp2 others(1): Show HG01192.hp1 HG01192.hp2 HG02257.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0002 a0001c0004t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0001	a0001c0001t0002g0080 a0001c0001t0002g0177 a0001c0002t0002g0015 others(1): Show a0001c0001t0002g0080 a0001c0001t0002g0177 a0001c0002t0002g0015 a0001c0004t0001g0004	4	198	0.0202	-38	c.32 others(49): Show c.3242_*3279delTCTCTCTCTCTCTCTATATATATATATATATATA TATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1460		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511665	CTCTCTCT others(31): Show CTCTCTCTCTCTCTATATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG03491.hp2 HG03942.hp1 others(2): Show HG02132.hp1 HG03491.hp2 HG03942.hp1 NA18522.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0005t0002	a0001c0001t0002g0094 a0001c0002t0002g0042 a0001c0002t0002g0068 others(2): Show a0001c0001t0002g0094 a0001c0002t0002g0042 a0001c0002t0002g0068 a0001c0003t0002g0156 a0001c0005t0002g0170	5	198	0.0253	-38	c.32 others(49): Show c.3244_*3281delTCTCTCTCTCTCTATATATATATATATATATATA TATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1462		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511667	CTCTCTCT others(31): Show CTCTCTCTCTCTATATATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	198	0.0051	-38	c.32 others(49): Show c.3246_*3283delTCTCTCTCTCTATATATATATATATATATATATA TATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1464		chr5	TogoVar
TRPC1_chr3_142719034_142812888	142763961	TATATATA others(31): Show TATATATATATATATATATATATACACATACATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(105): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02572.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0002c0009 a0003c0007	a0001c0002t0001 a0001c0003t0001 a0001c0004t0005 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0005 a0001c0004t0014 a0002c0005t0007 a0002c0009t0007 a0003c0007t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0012 others(93): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0279 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0003t0001g0033 a0001c0004t0005g0017 a0001c0004t0005g0018 a0001c0004t0005g0019 a0001c0004t0005g0264 a0001c0004t0005g0265 a0001c0004t0005g0266 a0001c0004t0005g0267 a0001c0004t0005g0268 a0001c0004t0005g0270 a0001c0004t0005g0271 a0001c0004t0005g0272 a0001c0004t0005g0273 a0001c0004t0005g0274 a0001c0004t0005g0275 a0001c0004t0005g0276 a0001c0004t0005g0277 a0001c0004t0005g0278 a0001c0004t0005g0310 a0001c0004t0014g0269 a0002c0005t0007g0026 a0002c0005t0007g0027 a0002c0005t0007g0028 a0002c0005t0007g0029 a0002c0005t0007g0030 a0002c0005t0007g0034 a0002c0005t0007g0035 a0002c0005t0007g0036 a0002c0005t0007g0037 a0002c0005t0007g0055 a0002c0005t0007g0070 a0002c0009t0007g0038 a0003c0007t0001g0204 a0003c0007t0001g0205 a0003c0007t0001g0235	108	340	0.3177	-38	c.633 others(57): Show c.633-13653_633-13616delTATATACACATACATACATACATATA TATATATATATA	TRPC1	ENSG00000144935.17	transcript	ENST00000476941.6	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRPC1_chr3_142719034_142812888	142763979	TATATACA others(31): Show TATATACACATACATACATACATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0280 a0001c0003t0001g0280	1	340	0.0029	-38	c.633 others(57): Show c.633-13652_633-13615delATATACACATACATACATACATATAT ATATATATATAA	TRPC1	ENSG00000144935.17	transcript	ENST00000476941.6	protein_coding	4/12			chr3	TogoVar
TRPM4_chr19_49152792_49216836	49197296	CTCTTTCT others(31): Show CTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01255.hp1 others(10): Show HG01070.hp1 HG01071.hp1 HG01255.hp1 HG01891.hp1 HG01891.hp2 HG02257.hp1 HG02809.hp2 HG03098.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0004 a0002c0014 others(1): Show a0001c0012 a0002c0004 a0002c0014 a0002c0034	a0001c0012t0001 a0002c0004t0001 a0002c0004t0007 others(2): Show a0001c0012t0001 a0002c0004t0001 a0002c0004t0007 a0002c0014t0001 a0002c0034t0001	a0001c0012t0001g0297 a0001c0012t0001g0302 a0002c0004t0001g0038 others(10): Show a0001c0012t0001g0297 a0001c0012t0001g0302 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0281 a0002c0004t0001g0286 a0002c0004t0001g0299 a0002c0004t0001g0300 a0002c0004t0001g0301 a0002c0004t0001g0303 a0002c0004t0007g0046 a0002c0014t0001g0277 a0002c0034t0001g0122	13	312	0.0417	-38	c.264 others(55): Show c.2645+436_2645+473delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRPM8_chr2_233912373_234024522	233927831	CCTTCCTT others(31): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0311 a0003c0005t0002g0311	1	322	0.0031	-38	c.117 others(55): Show c.117+1181_117+1218delCCTTCCTTCCTTCCTTCCTTTCTTTCTC TTTCTTTCTT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM8_chr2_233912373_234024522	233927839	CCTTCCTT others(31): Show CCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	322	0.0031	-38	c.117 others(55): Show c.117+1189_117+1226delCCTTCCTTCCTTTCTTTCTCTTTCTTTC TTTCTTTCTT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPV5_chr7_142903101_142938746	142924277	TATACATA others(31): Show TATACATATACATGTATATATATACATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	253	0.0040	-38	c.112 others(57): Show c.1122+1214_1122+1251delGTGTATATATATATGTATATATATAC ATGTATATGTAT	TRPV5	ENSG00000127412.7	transcript	ENST00000265310.6	protein_coding	8/14			chr7	TogoVar
TRRAP_chr7_98873532_99018241	98886299	CATAGATA others(31): Show CATAGATATAGATATCTATATAGATAGAGATAGATATAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp2 HG02559.hp2 HG02895.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0008 a0002c0008t0008	a0002c0008t0008g0192 a0002c0008t0008g0193 a0002c0008t0008g0192 a0002c0008t0008g0193	2	262	0.0076	-38	c.151 others(55): Show c.151-3994_151-3957delGATATAGATATCTATATAGATAGAGATA GATATAGATA	TRRAP	ENSG00000196367.15	transcript	ENST00000456197.2	protein_coding	3/72		INFO_REALIGN_3_PRIME	chr7	TogoVar
TSC22D2_chr3_150403298_150471422	150467323	TGTTTCTT others(31): Show TGTTTCTTATTCATTTTTGATCCCTCTTTTGGTTGGGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03209.hp2 HG02486.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0046 a0001c0001t0024g0271 a0001c0001t0024g0046 a0001c0001t0024g0271	2	404	0.0050	-38	c.86 others(49): Show c.8688_*8725delGTTTCTTATTCATTTTTGATCCCTCTTTTGGTTG GGAA	TSC22D2	ENSG00000196428.13	transcript	ENST00000688009.1	protein_coding		902		chr3	TogoVar
TSEN15_chr1_184046730_184079212	184078683	CTTGTAAA others(31): Show CTTGTAAAGAACATGAAGGAAGAGGTACTTTGGAATTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-38	c.58 others(49): Show c.5837_*5874delTTGTAAAGAACATGAAGGAAGAGGTACTTTGGAA TTCA	TSEN15	ENSG00000198860.14	transcript	ENST00000645668.2	protein_coding		4472		chr1	TogoVar
TSHZ2_chr20_52967358_53500330	53190086	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18954.hp1 NA18999.hp2 others(1): Show HG02818.hp1 NA18954.hp1 NA18999.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 a0001c0001 a0001c0009 a0001c0011	a0001c0001t0005 a0001c0001t0074 a0001c0009t0030 others(1): Show a0001c0001t0005 a0001c0001t0074 a0001c0009t0030 a0001c0011t0081	a0001c0001t0005g0158 a0001c0001t0074g0106 a0001c0009t0030g0136 others(1): Show a0001c0001t0005g0158 a0001c0001t0074g0106 a0001c0009t0030g0136 a0001c0011t0081g0032	4	174	0.0230	-38	c.41- others(55): Show c.41-63398_41-63361delATATATATATATATATATATATATATAT ATATATATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSPAN11_chr12_30921748_31001599	30967678	ACACACAT others(31): Show ACACACATGCATATGCATGCACACACATGCATATGCACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(102): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18940.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18962.hp1 NA18967.hp1 NA18971.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18993.hp1 NA18994.hp1 NA19002.hp2 NA19010.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0002c0004 a0003c0003 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0037 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0051 a0001c0001t0056 a0001c0001t0067 a0001c0007t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0021 a0002c0002t0026 a0002c0002t0045 a0002c0002t0061 a0002c0004t0001 a0002c0004t0004 a0002c0004t0005 a0002c0004t0014 a0002c0004t0017 a0002c0004t0030 a0002c0004t0053 a0003c0003t0009 a0003c0003t0010 a0008c0011t0002	a0001c0001t0001g0099 a0001c0001t0001g0244 a0001c0001t0001g0245 others(101): Show a0001c0001t0001g0099 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0257 a0001c0001t0001g0342 a0001c0001t0001g0356 a0001c0001t0002g0002 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0126 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0233 a0001c0001t0002g0269 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0291 a0001c0001t0002g0307 a0001c0001t0002g0325 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0363 a0001c0001t0003g0266 a0001c0001t0003g0289 a0001c0001t0003g0320 a0001c0001t0003g0326 a0001c0001t0003g0364 a0001c0001t0004g0079 a0001c0001t0004g0277 a0001c0001t0005g0344 a0001c0001t0006g0222 a0001c0001t0006g0284 a0001c0001t0007g0200 a0001c0001t0009g0204 a0001c0001t0009g0229 a0001c0001t0009g0231 a0001c0001t0009g0271 a0001c0001t0009g0290 a0001c0001t0009g0303 a0001c0001t0009g0348 a0001c0001t0010g0127 a0001c0001t0010g0273 a0001c0001t0014g0369 a0001c0001t0015g0366 a0001c0001t0015g0367 a0001c0001t0015g0368 a0001c0001t0015g0370 a0001c0001t0016g0178 a0001c0001t0016g0331 a0001c0001t0025g0205 a0001c0001t0025g0219 a0001c0001t0027g0022 a0001c0001t0027g0023 a0001c0001t0034g0228 a0001c0001t0037g0014 a0001c0001t0040g0255 a0001c0001t0043g0256 a0001c0001t0044g0317 a0001c0001t0051g0177 a0001c0001t0056g0358 a0001c0001t0067g0305 a0001c0007t0013g0243 a0001c0007t0013g0249 a0002c0002t0001g0199 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0184 a0002c0002t0002g0315 a0002c0002t0004g0096 a0002c0002t0004g0176 a0002c0002t0004g0182 a0002c0002t0004g0295 a0002c0002t0004g0323 a0002c0002t0006g0250 a0002c0002t0006g0254 a0002c0002t0007g0251 a0002c0002t0007g0360 a0002c0002t0013g0280 a0002c0002t0014g0124 a0002c0002t0015g0385 a0002c0002t0021g0034 a0002c0002t0026g0281 a0002c0002t0045g0037 a0002c0002t0061g0252 a0002c0004t0001g0044 a0002c0004t0001g0227 a0002c0004t0001g0247 a0002c0004t0004g0283 a0002c0004t0005g0246 a0002c0004t0005g0272 a0002c0004t0014g0195 a0002c0004t0017g0217 a0002c0004t0030g0206 a0002c0004t0053g0019 a0003c0003t0009g0162 a0003c0003t0010g0161 a0008c0011t0002g0260	105	394	0.2665	-38	c.276 others(55): Show c.276+3672_276+3709delTATGCATGCACACACATGCATATGCACG CACACATGCA	TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3226740	GTGTGTAT others(31): Show GTGTGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0109 a0001c0002t0109	a0001c0002t0109g0286 a0001c0002t0109g0286	1	288	0.0035	-38	c.63+ others(55): Show c.63+25486_63+25523delGTGTATATATATATATATATATATATAT ATATATATAT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTC39C_chr18_24009754_24140600	24023943	TATGCATG others(31): Show TATGCATGTATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18522.hp2 NA18906.hp2 HG02572.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0013 a0001c0003t0023 a0001c0001t0004 a0001c0001t0013 a0001c0003t0023	a0001c0001t0004g0128 a0001c0001t0013g0321 a0001c0003t0023g0315 a0001c0001t0004g0128 a0001c0001t0013g0321 a0001c0003t0023g0315	3	328	0.0092	-38	c.167 others(55): Show c.167+8908_167+8945delGCATGTATATATATATATATATATATAT ATATATACAT	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC8_chr14_88819651_88882988	88862541	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	400	0.0025	-38	c.909 others(55): Show c.909+1228_909+1265delATATATATATATATATATATATATATAT ATATATATAT	TTC8	ENSG00000165533.19	transcript	ENST00000380656.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC8_chr14_88819651_88882988	88868682	TAGTCTGT others(31): Show TAGTCTGTTTATATGGAAACTTGGGTAATTACTCTTGGG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0304 a0001c0002t0003g0304	1	400	0.0025	-38	c.910 others(55): Show c.910-1374_910-1337delTCTGTTTATATGGAAACTTGGGTAATTA CTCTTGGGAG	TTC8	ENSG00000165533.19	transcript	ENST00000380656.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTF1_chr9_132370548_132411840	132377831	AATGCATG others(31): Show AATGCATGTGGTGTGTGTGAATGCATGTGGTGTGAGTGC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0161 a0010c0017t0001g0161	1	400	0.0025	-38	c.246 others(57): Show c.2464+1190_2464+1227delGCACTCACACCACATGCATTCACACA CACCACATGCAT	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TTF1_chr9_132370548_132411840	132378019	GGTGTGAG others(31): Show GGTGTGAGTGCATGTGGTGTGTGTGTGAATGCATGTGGT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0164 a0001c0013t0001g0164	1	400	0.0025	-38	c.246 others(57): Show c.2464+1002_2464+1039delACCACATGCATTCACACACACACCAC ATGCACTCACAC	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TTLL10_chr1_1168880_1202936	1202402	GAGCCCAG others(31): Show GAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0244 a0006c0009t0001g0244	1	382	0.0026	-38	c.45 others(49): Show c.4556_*4593delAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGC CTCC	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4467		chr1	TogoVar
TTLL12_chr22_43161622_43192134	43185247	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03209.hp1 NA18522.hp1 others(4): Show HG01358.hp2 HG03209.hp1 NA18522.hp1 NA18950.hp2 NA18978.hp2 NA18979.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0036 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0036 a0002c0003t0002 a0002c0003t0012	a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0036g0195 others(4): Show a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0036g0195 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0012g0196 a0002c0003t0012g0200	7	394	0.0178	-38	c.177 others(55): Show c.177+1608_177+1645delTATATATATATATATATATATATATATA TATATATATA	TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding	1/13			chr22	TogoVar
TTLL12_chr22_43161622_43192134	43189255	GTATCTCT others(31): Show GTATCTCTGGTTGTCTTCAGCTCCTGGAAAGCATTGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	394	0.0025	-38	c.-22 others(49): Show c.-2224_-2187delGCACAATGCTTTCCAGGAGCTGAAGACAACCAGA GATA	TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding		2122		chr22	TogoVar
TTLL6_chr17_48757234_48822229	48810779	GTGTATAT others(31): Show GTGTATATATATATAGTACATATATACACATATATAGTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02738.hp2 HG02818.hp1 others(6): Show HG02257.hp1 HG02738.hp2 HG02818.hp1 HG03669.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18972.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0013 a0001c0001 a0002c0002 a0007c0013	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0007c0013t0001	a0001c0001t0002g0107 a0001c0001t0003g0117 a0001c0001t0003g0118 others(6): Show a0001c0001t0002g0107 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0034 a0007c0013t0001g0035	9	330	0.0273	-38	c.104 others(55): Show c.104-5826_104-5789delTACTATATATGTGTATATATGTACTATA TATATATACA	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	1/15			chr17	TogoVar
TUBA1B_chr12_49122782_49136395	49131494	CGCCCACT others(31): Show CGCCCACTCCGCGCCCGGCCTGGCCGCCGCAGAGGCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	-38	c.-23 others(47): Show c.-232_-195delCCCGCCTCTGCGGCGGCCAGGCCGGGCGCGGAGTGG GC	TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding		100		chr12	TogoVar
TUBGCP2_chr10_133273635_133313872	133291250	CCATGTCC others(31): Show CCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	284	0.0035	-38	c.121 others(57): Show c.1214+1211_1214+1248delAGGGACACGGAGGGACATGGGGGACA CGGAGGGACATG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292085	GTGTCCCT others(31): Show GTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0060 a0001c0002t0003g0060	1	284	0.0035	-38	c.121 others(55): Show c.1214+376_1214+413delTGGGGGACATGGGGGACACGGAGGGACA CGGAGGGACA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP3_chr13_112480011_112593153	112492548	GCCCTGGC others(31): Show GCCCTGGCTATGGGAACAGGGCCTGGTGTGTCTGAGACA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02257.hp1 HG02630.hp1 others(3): Show HG01261.hp1 HG02257.hp1 HG02630.hp1 HG02965.hp2 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0010 a0001c0001t0004 a0001c0007t0010	a0001c0001t0004g0029 a0001c0001t0004g0089 a0001c0001t0004g0090 others(3): Show a0001c0001t0004g0029 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0007t0010g0011	6	312	0.0192	-38	c.244 others(57): Show c.2449-2889_2449-2852delTGTCTCAGACACACCAGGCCCTGTTC CCATAGCCAGGG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	20/21			chr13	TogoVar
TULP4_chr6_158307465_158516828	158337038	TCTTTCTT others(31): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0046 a0001c0002t0065g0046	1	268	0.0037	-38	c.252 others(57): Show c.252+22771_252+22808delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTC	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
TUT4_chr1_52418275_52558092	52498902	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0163 a0004c0014t0001g0163	1	250	0.0040	-38	c.100 others(57): Show c.1000-1757_1000-1720delTATATATATATATATATATATATATA TATATATATATA	TUT4	ENSG00000134744.14	transcript	ENST00000257177.9	protein_coding	4/29			chr1	TogoVar
TWIST2_chr2_238843085_238915534	238905934	CGTGTGTG others(31): Show CGTGTGTGTGCGCGCGCGTGTGTACGTGTGCGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02145.hp1 others(2): Show HG01243.hp2 HG01884.hp2 HG02145.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0311 a0001c0001t0001g0322 a0001c0001t0002g0187 others(2): Show a0001c0001t0001g0311 a0001c0001t0001g0322 a0001c0001t0002g0187 a0001c0001t0003g0308 a0001c0001t0005g0008	5	338	0.0148	-38	c.36 others(55): Show c.36-3906_*36-3869delTGTGTGTGCGCGCGCGTGTGTACGTGTG CGTGTGTGTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238905958	CGTGTGCG others(31): Show CGTGTGCGTGTGTGTGCGCGCGCGTGTACGTGCGCGTGT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	338	0.0030	-38	c.36 others(55): Show c.36-3880_*36-3843delTGCGTGTGTGTGCGCGCGCGTGTACGTG CGCGTGTGTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238911835	GCATGCAC others(31): Show GCATGCACACACACCACACACACGCACACATCACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	338	0.0030	-38	c.20 others(49): Show c.2030_*2067delCATGCACACACACCACACACACGCACACATCACA CACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding		1302		chr2	TogoVar
TYMS_chr18_652653_678578	667428	GGAGATGG others(31): Show GGAGATGGTGATGGTGATGGTGATGGTGATGATGGAGAT	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19066.hp1 NA19057.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0428 a0001c0001t0004g0429 a0001c0001t0004g0428 a0001c0001t0004g0429	2	482	0.0042	-38	c.455 others(55): Show c.455-1642_455-1605delAGATGGTGATGGTGATGGTGATGGTGAT GATGGAGATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667440	GGTGATGG others(31): Show GGTGATGGTGATGGTGATGATGGAGATGGTGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0194 a0001c0001t0016g0194	1	482	0.0021	-38	c.455 others(55): Show c.455-1630_455-1593delTGATGGTGATGGTGATGATGGAGATGGT GATGGTGATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYSND1_chr10_70132981_70151700	70133098	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02132.hp1 HG02523.hp1 others(21): Show HG02056.hp1 HG02132.hp1 HG02523.hp1 HG02630.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp2 HG03831.hp1 NA18956.hp1 NA18962.hp1 NA18966.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp1 NA18981.hp2 NA18986.hp1 NA18994.hp2 NA19004.hp2 NA19056.hp2 NA19058.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0007c0009	a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 others(7): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0003t0003 a0002c0001t0001 a0003c0004t0006 a0003c0004t0011 a0003c0004t0030 a0003c0004t0035 a0007c0009t0017	a0001c0002t0002g0002 a0001c0002t0004g0007 a0001c0002t0004g0029 others(9): Show a0001c0002t0002g0002 a0001c0002t0004g0007 a0001c0002t0004g0029 a0001c0002t0016g0042 a0001c0003t0003g0003 a0002c0001t0001g0001 a0003c0004t0006g0008 a0003c0004t0011g0036 a0003c0004t0030g0057 a0003c0004t0035g0059 a0007c0009t0017g0048 a0007c0009t0017g0101	24	458	0.0524	-38	c.67 others(49): Show c.6788_*6825delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		4882		chr10	TogoVar
TYW1B_chr7_72569513_72833200	72625516	TGGGAGGC others(31): Show TGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00741.hp1 others(46): Show HG00280.hp2 HG00639.hp2 HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03704.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0001c0019 a0002c0003 a0004c0005 a0004c0010 a0004c0024 a0007c0012	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0019t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0007c0012t0001	a0001c0001t0001g0039 a0001c0002t0001g0231 a0001c0007t0001g0186 others(46): Show a0001c0001t0001g0039 a0001c0002t0001g0231 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0019t0001g0088 a0002c0003t0001g0096 a0002c0003t0001g0097 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0118 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0133 a0002c0003t0001g0179 a0002c0003t0003g0119 a0002c0003t0003g0120 a0002c0003t0005g0117 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0007c0012t0001g0166 a0007c0012t0001g0167	49	286	0.1713	-38	c.161 others(57): Show c.1617+3333_1617+3370delGCTCCTGGGCTCAAGTGATCCTCCCA CCTCAGCCTCCC	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	12/13			chr7	TogoVar
UBAP1_chr9_34174043_34257523	34182639	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	342	0.0029	-38	c.-8+ others(53): Show c.-8+3401_-8+3438delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34182643	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18941.hp1 HG02027.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0020 a0001c0001t0001g0037	2	342	0.0059	-38	c.-8+ others(53): Show c.-8+3405_-8+3442delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE4A_chr11_118354600_118404211	118355627	GTATATAT others(31): Show GTATATATACACATATGTATATATACACATATACATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0158 a0001c0001t0016g0158	1	320	0.0031	-38	c.-40 others(49): Show c.-4088_-4051delTATATATACACATATGTATATATACACATATACA TATA	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3972		chr11	TogoVar
UBL3_chr13_29759371_29855617	29788854	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCACGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 NA19043.hp2 HG01243.hp1 HG02723.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0266	3	392	0.0077	-38	c.28- others(55): Show c.28-11629_28-11592delGTGCGCGTGCGCGCGCGCGCGCACACAC ACACACACAC	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835087	TAAATATA others(31): Show TAAATATATATATATATATAAATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0353 a0001c0001t0005g0353	1	392	0.0026	-38	c.27+ others(55): Show c.27+14387_27+14424delTTATATATATATATATATTTATATATAT ATATATATTT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835089	AATATATA others(31): Show AATATATATATATATATAAATATATATATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18953.hp2 NA19043.hp2 others(1): Show HG00733.hp2 NA18953.hp2 NA19043.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0321 others(1): Show a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0321 a0001c0001t0002g0324	4	392	0.0102	-38	c.27+ others(55): Show c.27+14385_27+14422delATTTATATATATATATATATTTATATAT ATATATATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02809.hp1 others(5): Show HG02451.hp2 HG02615.hp1 HG02809.hp1 HG03486.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 others(5): Show a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144	8	318	0.0252	-38	c.149 others(57): Show c.1497+1345_1497+1382delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
UIMC1_chr5_176900006_177011779	176911137	AAAGAAAA others(31): Show AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00621.hp1 others(72): Show HG00408.hp2 HG00423.hp1 HG00621.hp1 HG01081.hp2 HG01123.hp1 HG01255.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19011.hp2 NA19030.hp2 NA19058.hp2 NA19070.hp1 NA19072.hp1 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0001c0002t0002 a0004c0005t0001 a0001c0002t0001 a0001c0002t0002 a0004c0005t0001	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 others(71): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0166 a0001c0002t0001g0306 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0002g0006 a0004c0005t0001g0009 a0004c0005t0001g0037 a0004c0005t0001g0040 a0004c0005t0001g0043 a0004c0005t0001g0049 a0004c0005t0001g0055 a0004c0005t0001g0064 a0004c0005t0001g0066 a0004c0005t0001g0068 a0004c0005t0001g0072 a0004c0005t0001g0079 a0004c0005t0001g0081 a0004c0005t0001g0099 a0004c0005t0001g0101	75	330	0.2273	-38	c.167 others(55): Show c.1676+136_1676+173delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	11/14			chr5	TogoVar
UNC5D_chr8_35230475_35801540	35271680	TATGTATA others(31): Show TATGTATACATGTATACATGTATACATATATATTTATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01928.hp2 others(14): Show HG00438.hp2 HG00597.hp2 HG01928.hp2 HG02083.hp1 HG02129.hp2 HG02559.hp2 HG02630.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03490.hp2 HG03516.hp2 HG03688.hp2 HG03927.hp1 HG03927.hp2 NA18522.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0019 a0001c0003t0003 a0001c0003t0014 a0001c0003t0023 a0001c0004t0003 a0001c0008t0007 a0003c0007t0002	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0004g0035 a0001c0001t0016g0019 a0001c0001t0019g0011 a0001c0003t0003g0009 a0001c0003t0014g0040 a0001c0003t0023g0005 a0001c0004t0003g0004 a0001c0008t0007g0037 a0003c0007t0002g0007	17	64	0.2656	-38	c.103 others(57): Show c.103+35812_103+35849delGTATACATATATATTTATACATGTAT ACATGTATACAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93660527	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02922.hp1 others(3): Show HG02257.hp2 HG02572.hp1 HG02922.hp1 HG02970.hp1 HG03471.hp1 NA18522.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0001c0009 a0006c0013 a0001c0005 a0001c0009 a0006c0013	a0001c0005t0001 a0001c0009t0001 a0006c0013t0001 others(1): Show a0001c0005t0001 a0001c0009t0001 a0006c0013t0001 a0006c0013t0002	a0001c0005t0001g0010 a0001c0005t0001g0013 a0001c0009t0001g0018 others(3): Show a0001c0005t0001g0010 a0001c0005t0001g0013 a0001c0009t0001g0018 a0006c0013t0001g0044 a0006c0013t0002g0045 a0006c0013t0002g0046	6	193	0.0311	-38	c.685 others(57): Show c.6858+1268_6858+1305delATATATATATATATATATATATATAT ATATATATATGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	328	0.0031	-38	c.153 others(51): Show c.153-83_153-46delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar

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