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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SERINC2_chr1_31408213_31439678	31432047	A A	ATAGGGTG others(200): Show ATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAT AGGATGGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0322 a0002c0002t0006g0322	1	376	0.0027	207	c.101 others(224): Show c.1014-920_1014-919insTAGGGTGGTTAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGATAGGATGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432138	C C	CAGGGTGG others(200): Show CAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGA GGGTGGAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0170 a0003c0007t0002g0170	1	376	0.0027	207	c.101 others(224): Show c.1014-821_1014-820insTAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432147	C C	CAGGGTGG others(200): Show CAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0202 a0001c0004t0003g0202	1	376	0.0027	207	c.101 others(224): Show c.1014-813_1014-812insTTAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGCZ_chr8_14079845_15243431	15012554	A A	ATATATAA others(200): Show ATATATAACATATAAATATATATTTATATAACATATAAATATATATTTAT ATAACATATAAATATATATTTATATAACATATAAATATATATTTATATAA CATATAAATATATATTTATATAACATATAAATATATATTTATATAACATA TAAATATATATTTATATAACATATAAATATATATTTATATAACATATAAA TATATATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19000.hp1 HG00438.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0090 a0001c0001t0071 a0001c0001t0090	a0001c0001t0071g0067 a0001c0001t0090g0084 a0001c0001t0071g0067 a0001c0001t0090g0084	2	102	0.0196	207	c.39+ others(226): Show c.39+225030_39+225031insAATATATATTTATATGTTATATAAAT ATATATTTATATGTTATATAAATATATATTTATATGTTATATAAATATAT ATTTATATGTTATATAAATATATATTTATATGTTATATAAATATATATTT ATATGTTATATAAATATATATTTATATGTTATATAAATATATATTTATAT GTTATATAAATATATATTTATATGTTATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGT others(200): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00544.hp2 others(47): Show HG00099.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG01099.hp1 HG01258.hp1 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG02071.hp2 HG02129.hp1 HG02257.hp1 HG02300.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03704.hp2 HG03927.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0099 others(47): Show a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0006c0011t0001g0190	50	242	0.2066	207	c.-15 others(226): Show c.-153-1450_-153-1449insCCCCCCCCACCGACTGTATCCAGACA TGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCG CCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGC ATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070045	G G	GAGCCCCC others(200): Show GAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCGC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGTATCAC ACTTATGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0004 a0002c0025t0004	a0002c0025t0004g0061 a0002c0025t0004g0061	1	118	0.0085	207	c.224 others(226): Show c.2241+3587_2241+3588insGCATAAGTGTGATACCCGTGTGCTGG GGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACT GGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGCGGCTCACTGGGGGCTG CATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGT GATGCCGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC25A16_chr10_68472998_68532523	68529699	A A	ACATATAT others(200): Show ACATATATGTATATATTATATATGCATATATGTATATATTATATATGCAT ATATGTATATATTATATATGCATATATGTATATATTATATATGCATATAT GTATATATTATATAGGCATATATGTATATATTATATGTGCATATATGTAT ATATTATATGTGCATATATGTATATATTATATGTGCATATATGTATATAT TATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0300 a0001c0001t0049g0300	1	312	0.0032	207	c.-23 others(218): Show c.-2325_-2324insCATATATAATATATACATATATGCACATATAATA TATACATATATGCACATATAATATATACATATATGCACATATAATATATA CATATATGCCTATATAATATATACATATATGCATATATAATATATACATA TATGCATATATAATATATACATATATGCATATATAATATATACATATATG CATATATAATATATACATATATG	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding		2177		chr10	TogoVar
SLC25A16_chr10_68472998_68532523	68529699	A A	ACATATAT others(200): Show ACATATATGTATATATTATATATGCATATATGTATATATTATATATGCAT ATATGTATATATTATATATGCATATATGTATATATTATATATGCATATAT GTATATATTATATGTGCATATATGTATATATTATATGTGCATATATGTAT ATATTATATGTGCATATATGTATATATTATATGTGCATATATGTATATAT TATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0294 a0001c0001t0014g0294	1	312	0.0032	207	c.-23 others(218): Show c.-2325_-2324insCATATATAATATATACATATATGCACATATAATA TATACATATATGCACATATAATATATACATATATGCACATATAATATATA CATATATGCACATATAATATATACATATATGCATATATAATATATACATA TATGCATATATAATATATACATATATGCATATATAATATATACATATATG CATATATAATATATACATATATG	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding		2177		chr10	TogoVar
SLC66A2_chr18_79897420_79956653	79952600	G G	GGGGTGAG others(200): Show GGGGTGAGGGGCGCGCGAGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTG AGGGGAGCGCGGGTGAAGAGTGAGGGGAGCGCGGGTGAAGTGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGCGCGCGGGGTGAGGGGTGAGGGGTGAGGG GCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGGAGCG CGGGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	352	0.0028	207	c.-11 others(218): Show c.-1120_-1119insTTCACCCGCGCTCCCCCTCACCCCTCACCCACGC TCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCCCTCACCCCGC GCGCCCCTCACCCCTCACCCGCGCTCCCCTCACACTTCACCCGCGCTCCC CTCACTCTTCACCCGCGCTCCCCTCACCCCTCACCCACGCTCCCCTCACT CTTCACTCGCGCGCCCCTCACCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		948		chr18	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(200): Show ACAGACGCCCGAATCCTCACCCCGCAGACGCCCGAATCCCCACCCCACAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCTCACCCCGCAGACGCCCAAATCCCCACCCCACAGACGCCCGAATCC TCACCCCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02559.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0141 a0001c0001t0001g0142	2	218	0.0092	207	c.212 others(226): Show c.212-15600_212-15599insCGGGGTGAGGATTCGGGCGTCTGTGG GGTGGGGATTTGGGCGTCTGCGGGGTGAGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGAGA TTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCG GGCGTCTGCGGGGTGAGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507847	C C	CCACCCCA others(200): Show CCACCCCACAGACGCCCGAATCCTCACCCCACAGACGCCCGAATCCCCAC CCCACAGACGCCCGAATCTCCACCCCACAGACGCCCGAATCCTCACCCCA CAGACACCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGA CGCCTGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGCC CGAATCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	218	0.0046	207	c.212 others(226): Show c.212-15777_212-15776insAGGATTCGGGCGTCTGTGGGGTGGAG ATTCGGGCGTCTGTGGGGTGGGGATTCAGGCGTCTGTGGGGTGGAGATTC GGGCGTCTGTGGGGTGGGGATTCGGGTGTCTGTGGGGTGAGGATTCGGGC GTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCT GTGGGGTGAGGATTCGGGCGTCTGTGGGGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507854	A A	ACAGACGC others(200): Show ACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAG ACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC CCACCCCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04115.hp1 NA18942.hp2 HG03688.hp2 HG04115.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0030 a0002c0002 a0001c0009 a0001c0030 a0002c0002	a0001c0009t0008 a0001c0030t0008 a0002c0002t0002 a0001c0009t0008 a0001c0030t0008 a0002c0002t0002	a0001c0009t0008g0151 a0001c0030t0008g0150 a0002c0002t0002g0149 a0001c0009t0008g0151 a0001c0030t0008g0150 a0002c0002t0002g0149	3	218	0.0138	207	c.212 others(226): Show c.212-15784_212-15783insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGA TTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCG GGCGTCTGTGGGGTGGGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168592338	T T	TCTGAGCT others(200): Show TCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGGAT CTCCAAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGA GGATCGCGGAGCTCCTCCTCCTTCCTGAGGCTTCACGGGCATCTTTCTAG AGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTA GAGGATGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	180	0.0056	207	c.638 others(224): Show c.638-6479_638-6478insTGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCGTCTTTCTAGAGGATCTCCAAGCTCCTCCTCCTTCCTGAGGCCTC ACGAGGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGG CTTCACGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATGGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593210	C C	CGCCGAGC others(200): Show CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGA GGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAG AGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTA GAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCT AGAGGATG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG04184.hp2 others(3): Show HG01346.hp1 HG02135.hp1 HG04184.hp2 NA18951.hp1 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0002t0002g0006 a0001c0002t0002g0031	6	180	0.0333	207	c.638 others(224): Show c.638-5583_638-5582insCCTCACGAGGGGCATCTTTCTAGAGGAT CGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGG ATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAG GATGGCCGAGCTCCTCCTCCTTCCTGAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX12_chrX_71054247_71073334	71071574	A A	ATATATAT others(200): Show ATATATATAAATATATAATATTTATATATTATATATATAATATATAATAT TTATATATTATATATATAAATATATAATATTTATATATTATATATATAAA TATATAATATTTATATATTATATATAAATATATAATATTTATATATTATA TATATAAATATATAATATTTATATATATTATATATAAATATATAATATTT ATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG00140.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	309	0.0065	207	c.-32 others(218): Show c.-3269_-3268insATATATATAAATATTATATATTTATATATAATAT ATATAAATATTATATATTTATATATATAATATATAAATATTATATATTTA TATATAATATATAAATATTATATATTTATATATATAATATATAAATATTA TATATTTATATATATAATATATAAATATTATATATTATATATATAATATA TAAATATTATATATTTATATATA	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3241		chrX	TogoVar
SNX6_chr14_34556093_34635148	34557510	T T	TCTTCTCC others(200): Show TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTTC TCCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	322	0.0031	207	c.56 others(218): Show c.5611_*5612insGAGAAGGAGAAGGAGAAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3582		chr14	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTTCCT others(200): Show CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTCCC TCTTTTCCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTTTC CCTCTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0018 a0018	a0018c0055 a0018c0055	a0018c0055t0048 a0018c0055t0048	a0018c0055t0048g0150 a0018c0055t0048g0150	1	168	0.0060	207	c.548 others(226): Show c.548+52881_548+52882insTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCGTA CTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCTCCATCCCGCC CTCCCTCCCTTCCTCTTTTCCCTCTCTTCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(200): Show TTATATATAATTATATAATATATTACGTAATATATTATATATAATTATAT ATAATTATTACGTAATATATTATATATAATTATATAATATATTACGTAAT ATATTATATATAATTATATAATATATTACGTAATATATTATATATAATTA TATAATATATTACGTAATATATTATATATAATTATATAATATATTACATA ATATATTA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0294 a0001c0009t0010g0294	1	356	0.0028	207	c.-11 others(228): Show c.-112+29027_-112+29028insTAATTATATAATATATTACGTAAT ATATTATATATAATTATATATAATTATTACGTAATATATTATATATAATT ATATAATATATTACGTAATATATTATATATAATTATATAATATATTACGT AATATATTATATATAATTATATAATATATTACGTAATATATTATATATAA TTATATAATATATTACATAATATATTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPEF2_chr5_35612863_35819611	35713895	G G	GTTATATA others(200): Show GTTATATATAGTATATATTTTATATATAGTATATATGTTATATATAGTAT ATATTTTATATATAGTATATATGTTATATATAGTATTATGTATTTTATAT ATAGTATATATGTTATATATAGTATTATGTATTTTATATATAGTATATAT GTTATATATAGTATATATGTTATATATAGTATTACGTATTTTATATATAG TATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0216 a0004c0005t0001g0216	1	268	0.0037	207	c.291 others(226): Show c.2914+1022_2914+1023insATATTTTATATATAGTATATATGTTA TATATAGTATATATTTTATATATAGTATATATGTTATATATAGTATTATG TATTTTATATATAGTATATATGTTATATATAGTATTATGTATTTTATATA TAGTATATATGTTATATATAGTATATATGTTATATATAGTATTACGTATT TTATATATAGTATATATATTATATATAGTAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(200): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	260	0.0039	207	c.138 others(226): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TTCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRMS_chr20_63533489_63552749	63535752	A A	ACCTGGCC others(200): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCC TCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCC GCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCC CCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0072 a0005c0007t0002g0072	1	356	0.0028	207	c.50 others(218): Show c.5065_*5066insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGG CGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTGCGGG AGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGGGAGGC CAGGTGAGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGG TGAGGGGGGGGCGGGAGGCCAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2736		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535752	A A	ACCTGGCC others(200): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCC TCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCC GCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCC CCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02559.hp2 others(4): Show HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp2	a0003 a0005 a0016 a0003 a0005 a0016	a0003c0004 a0003c0017 a0005c0007 others(1): Show a0003c0004 a0003c0017 a0005c0007 a0016c0021	a0003c0004t0002 a0003c0017t0002 a0005c0007t0002 others(1): Show a0003c0004t0002 a0003c0017t0002 a0005c0007t0002 a0016c0021t0002	a0003c0004t0002g0003 a0003c0004t0002g0022 a0003c0017t0002g0043 others(3): Show a0003c0004t0002g0003 a0003c0004t0002g0022 a0003c0017t0002g0043 a0005c0007t0002g0029 a0005c0007t0002g0068 a0016c0021t0002g0071	7	356	0.0197	207	c.50 others(218): Show c.5065_*5066insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGG CGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTGCGGG AGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGGGAGGC CAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGG TGAGGGGGGGGCGGGAGGCCAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2736		chr20	TogoVar
SYK_chr9_90796819_90903549	90884833	G G	GTATGCAC others(200): Show GTATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTGT ATGCACATATACACACATATGTGTGTATGCACATATATACATATATACAC ATATGTGTACATATGTGTATATATACATATATATACACATATATATGTAT ATATACACATATGTGAATATGTATATATGTGTTATATATACACATATGTG TATATGTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0010 a0001c0005t0006 a0001c0005t0010	a0001c0005t0006g0372 a0001c0005t0010g0369 a0001c0005t0006g0372 a0001c0005t0010g0369	2	376	0.0053	207	c.158 others(226): Show c.1582-2913_1582-2912insGCACATATACACATATGTGTGTATGC ACATATACACATATGTGTGTATGCACATATACACACATATGTGTGTATGC ACATATATACATATATACACATATGTGTACATATGTGTATATATACATAT ATATACACATATATATGTATATATACACATATGTGAATATGTATATATGT GTTATATATACACATATGTGTATATGTATAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT1_chr12_78859774_79457008	78876841	A A	AATACATA others(200): Show AATACATATAATATATTATATGTATTATATATTATATGTATTACATATAA TATATATTATATGTATTACATATAATATATATTATATGTATTACATATAA TATATATTATATGTATTACATATAATATATATTATATGTATTACATATAA TATATATTATATGTATTACATATAATATATATTATATGTATTATATATTA TATATATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	62	0.0161	207	c.-21 others(228): Show c.-217+11735_-217+11736insCATATAATATATTATATGTATTAT ATATTATATGTATTACATATAATATATATTATATGTATTACATATAATAT ATATTATATGTATTACATATAATATATATTATATGTATTACATATAATAT ATATTATATGTATTACATATAATATATATTATATGTATTACATATAATAT ATATTATATGTATTATATATTATATATATTATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D2B_chr15_77989985_78082711	77992793	C C	CCCCACTC others(200): Show CCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCACTCCCC CCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCAC TCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCC ACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCAC TCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	280	0.0036	207	c.53 others(218): Show c.5366_*5367insTGGGGGGAGTGGGGGGAGTGGGGGGGAGTGGGGG GAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGT GGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGA GTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGTGGGGGGGAG TGGGGGGAGTGGGGGGGAGTGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2191		chr15	TogoVar
TCF25_chr16_89868592_89916379	89884721	G G	GCCCCTCT others(200): Show GCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCATGACGCCCCTCT CCCTCTGCCTGACGCCCTTTCCCTCTGCCTGACGCCCCTCTCCCTCTGCC TGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCT CTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02258.hp1 HG01109.hp1 HG02145.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0051	3	300	0.0100	207	c.429 others(220): Show c.429+68_429+69insCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTG CATGACGCCCCTCTCCCTCTGCCTGACGCCCTTTCCCTCTGCCTGACGCC CCTCTCCCTCTGCCTGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGT CTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1627871	G G	GCTCACGG others(200): Show GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGGGCGGGAAGGGGA CAGCAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0204 a0001c0005t0001g0204	1	352	0.0028	207	c.299 others(222): Show c.299-446_299-445insTTCTGCTGTCCCCTTCCCGCCCCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628334	G G	GGGAAGGG others(200): Show GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG GTGGGGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0277 a0001c0003t0001g0277	1	352	0.0028	207	c.299 others(222): Show c.299-909_299-908insTGCCCCACCCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCC CTGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCCCTGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGTCC others(200): Show CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01081.hp1 others(17): Show HG00099.hp2 HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp1 HG03471.hp2 HG03654.hp1 HG03927.hp1	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0022 a0024	a0001c0027 a0005c0004 a0006c0008 others(3): Show a0001c0027 a0005c0004 a0006c0008 a0006c0010 a0022c0025 a0024c0023	a0001c0027t0003 a0005c0004t0001 a0006c0008t0001 others(3): Show a0001c0027t0003 a0005c0004t0001 a0006c0008t0001 a0006c0010t0001 a0022c0025t0001 a0024c0023t0001	a0001c0027t0003g0001 a0005c0004t0001g0033 a0005c0004t0001g0034 others(17): Show a0001c0027t0003g0001 a0005c0004t0001g0033 a0005c0004t0001g0034 a0005c0004t0001g0035 a0005c0004t0001g0036 a0005c0004t0001g0037 a0005c0004t0001g0038 a0005c0004t0001g0039 a0005c0004t0001g0041 a0005c0004t0001g0042 a0006c0008t0001g0047 a0006c0008t0001g0048 a0006c0008t0001g0058 a0006c0008t0001g0059 a0006c0010t0001g0088 a0006c0010t0001g0097 a0006c0010t0001g0098 a0006c0010t0001g0102 a0022c0025t0001g0065 a0024c0023t0001g0162	20	206	0.0971	207	c.443 others(226): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
TLL2_chr10_96359608_96518926	96404856	C C	CTTCATTT others(200): Show CTTCATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0246 a0001c0001t0039g0246	1	256	0.0039	207	c.126 others(224): Show c.1267+375_1267+376insCAAGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAATGAA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	10/20			chr10	TogoVar
TMEM117_chr12_43831081_44394758	44027186	T T	TTTATTTT others(200): Show TTTATTTTATTTTATTTTAGTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTTA TTTTATTTTTTATTTTATTTTATTTTATTTTTTATTTTATTTTATTTTAT TTTATTTTATTTTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	110	0.0091	207	c.410 others(226): Show c.410+82857_410+82858insTTTTAGTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATT TTATATTTTATTTTATTTTTTATTTTATTTTATTTTATTTTTTATTTTAT TTTATTTTATTTTATTTTATTTTTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATTTTATTTTA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44027186	T T	TTTATTTT others(200): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATT TTATTTTATTTTATTTTATTTTATTTTATATTTTATTTTATTTTTTATTT TATTTTATTTTATTTTTTATTTTATTTTATTTTATTTTATTTTATTTTTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	110	0.0091	207	c.410 others(226): Show c.410+82857_410+82858insTTTTATTTTATTTTATTTTATTTTAT TTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTTATTTTA TTTTTTATTTTATTTTATTTTATTTTTTATTTTATTTTATTTTATTTTAT TTTATTTTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATTTTATTTTA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44027186	T T	TTTATTTT others(200): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTATTTTATTTTATTTTATTTTATTTTATTTTATATTTTATTTTATTTTT TATTTTATTTTATTTTATTTTTTATTTTATTTTATTTTATTTTATTTTAT TTTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	110	0.0091	207	c.410 others(226): Show c.410+82857_410+82858insTTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTTA TTTTATTTTTTATTTTATTTTATTTTATTTTTTATTTTATTTTATTTTAT TTTATTTTATTTTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATTTTATTTTA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM178B_chr7_141069064_141485380	141337152	C C	CCATCACC others(200): Show CCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCAGCATCACCACCATCACCACCACCACCACCACCATCACCAC CAGCATCACCACCATCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACGACCACCACCAGCATCACCACCACC ACCACCAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 NA18522.hp2 HG01891.hp1 HG01891.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0002 a0001c0002t0003 a0001c0001t0016 a0001c0002t0002 a0001c0002t0003	a0001c0001t0016g0037 a0001c0002t0002g0043 a0001c0002t0003g0052 a0001c0001t0016g0037 a0001c0002t0002g0043 a0001c0002t0003g0052	3	80	0.0375	207	c.497 others(228): Show c.497-100454_497-100453insTCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACC ACCACCACCACCACCATCACCACCAGCATCACCACCATCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACGA CCACCACCAGCATCACCACCACCACCACCATCA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMTC1_chr12_29495840_29788942	29643719	T T	TATATAAA others(200): Show TATATAAATATATATTATATAATATAAATATATATATTTATTATAATATA AATATATATTTATAATAAATATATATATTTATTATAATATAAATATATAT TTATAATAAATATATATATTTATTATAATATAAATATATATTTATAATAA ATATATATATTTATTATAATATAAATATATATTATAATAAATATATATAT TTATTATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0094 a0002c0003t0094	a0002c0003t0094g0256 a0002c0003t0094g0256	1	276	0.0036	207	c.939 others(226): Show c.939-10384_939-10383insTATAATAAATATATATATTTATTATA ATATATATTTATATTATAATAAATATATATATTTATTATAAATATATATT TATATTATAATAAATATATATATTTATTATAAATATATATTTATATTATA ATAAATATATATATTTATTATAAATATATATTTATATTATAATAAATATA TATATTTATATTATATAATATATATTTATAT	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TNFSF13B_chr13_108264718_108313478	108278666	T T	TCCCCTCC others(200): Show TCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTC CTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCTCCTCCTCCCCTT CCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTT TCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCC CTCCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0358 a0001c0001t0001g0358	1	384	0.0026	207	c.425 others(224): Show c.425-8136_425-8135insCCCTCCTCTCCTCCTCCTCTTCCTCCTC CTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCC CCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTT CCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCC CCTCCTCTCCTCCTCCTCCCCTCCTCTCC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TP73_chr1_3647516_3741201	3693722	T T	TGCAATCC others(200): Show TGCAATCCCAGCCCTGCAGCCTCAGCCCTCCTCCCGCAATCCACCCATGC AGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCTCCTCC TCCCACAATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCCAGCC CTGCAGCCTCAGCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCC CTCCTCCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	358	0.0028	207	c.186 others(226): Show c.186+10567_186+10568insCCTCCTCCCGCAATCCACCCATGCAG CCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCTCCTCCTC CCACAATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCCAGCCCT GCAGCCTCAGCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCT CCTCCCGCAATCCCAGCCCTGCAGCCTCAGC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPSD1_chr16_1251069_1264008	1258683	G G	GCCCCCTC others(200): Show GCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCCCTGCTCCA TCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCT CATCCATCCTGAGCCCCTTCTCCATCCTGAGCCCCCTCCCCCATCCTGGA CCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTT TCTTGAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0074 a0003c0003t0074	a0003c0003t0074g0003 a0003c0003t0074g0003	1	270	0.0037	207	c.31 others(216): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC CCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTTCTCCATCCTGAGCCCCCTCCCC CATCCTGGACCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TSHZ2_chr20_52967358_53500330	53005149	T T	TAAAAATA others(200): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGACTGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	174	0.0058	207	c.40+ others(224): Show c.40+31830_40+31831insTTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGA CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATACAAAAAA	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(200): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATAACATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATATAACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0010 a0001c0001t0016g0010	1	174	0.0058	207	c.41- others(224): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAACATGATGATATGATACTATATCATCATATAACATGATGATATG ATACTATATCATCATATAACATGATGATATGATACTATATCATCATATAA CATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142256380	C C	CACCACCA others(200): Show CACCACCACCATCACCATCACCATCATCATGGCTGTCACCACCATCATCA CCATCACCACCACCATGACCATCACCATCATCACCATCACCACCACCACC ACTGTCACCATCACCACCACCATCATCACCACCACCATCACCATCACTAT CACCACCACCATCACCACCATCACTATCACCACCACCACCACCATCACCA TAATTCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01496.hp2 HG02040.hp1 others(4): Show HG01106.hp2 HG01496.hp2 HG02040.hp1 HG02155.hp1 HG03492.hp2 HG03831.hp1 NA18967.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0006c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0006t0001 a0006c0006t0002	a0001c0001t0001g0031 a0001c0001t0002g0034 a0006c0006t0001g0233 others(4): Show a0001c0001t0001g0031 a0001c0001t0002g0034 a0006c0006t0001g0233 a0006c0006t0002g0028 a0006c0006t0002g0069 a0006c0006t0002g0221 a0006c0006t0002g0229	7	238	0.0294	207	c.144 others(228): Show c.1446+18400_1446+18401insAGGAATTATGGTGATGGTGGTGGT GGTGGTGATAGTGATGGTGGTGATGGTGGTGGTGATAGTGATGGTGATGG TGGTGGTGATGATGGTGGTGGTGATGGTGACAGTGGTGGTGGTGGTGATG GTGATGATGGTGATGGTCATGGTGGTGGTGATGGTGATGATGGTGGTGAC AGCCATGATGATGGTGATGGTGATGGTGGTGGT	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142256385	T T	TCACCATC others(200): Show TCACCATCATCACCATCACCACCACCACTGTCACCATCACCATCATCATG GCTGTCACCACCATCATCACCATCACCACCACCATGACCATCACCATCAA CACCATCACCACCACCATCATCACCACCACCATCACCATCACTATCACCA CCACCATCACCACCATCACTATCACCACCACCACCACCATCACCATAATT CCTACCAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18612.hp1 NA18747.hp2 HG02523.hp2 NA18612.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0071	3	238	0.0126	207	c.144 others(228): Show c.1446+18395_1446+18396insGTGGTAGGAATTATGGTGATGGTG GTGGTGGTGGTGATAGTGATGGTGGTGATGGTGGTGGTGATAGTGATGGT GATGGTGGTGGTGATGATGGTGGTGGTGATGGTGTTGATGGTGATGGTCA TGGTGGTGGTGATGGTGATGATGGTGGTGACAGCCATGATGATGGTGATG GTGACAGTGGTGGTGGTGATGGTGATGATGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142282460	A A	AAGGGGAG others(200): Show AAGGGGAGGCCACTGTCTGTCAAAGAGCAAAGGCTGGGGGTCAGTGTCTG CCAACGAGCAGAGGTGGGGTCAGTGTCTGCCAATGAGCAGAGATGGGACC CAGTGTCTGTCAATGAGCAGAGGTGGGGCCACTGTCTATCAATGAGCGGA GGTGGGGGCCACTGTCTGTCAATGAGCAGAGGCGGGGCCAGTGTCTGTCA ATGAGCAG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0099 a0003c0003t0003g0099	1	238	0.0042	207	c.136 others(226): Show c.1363+1952_1363+1953insCTGCTCATTGACAGACACTGGCCCCG CCTCTGCTCATTGACAGACAGTGGCCCCCACCTCCGCTCATTGATAGACA GTGGCCCCACCTCTGCTCATTGACAGACACTGGGTCCCATCTCTGCTCAT TGGCAGACACTGACCCCACCTCTGCTCGTTGGCAGACACTGACCCCCAGC CTTTGCTCTTTGACAGACAGTGGCCTCCCCT	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	11/13			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870189	A A	ACACCCCC others(200): Show ACACCCCCCACACACCACACCCCATACACACCACACACCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCCCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ATACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	338	0.0030	207	c.35 others(226): Show c.35+21458_*35+21459insCCCCCCACACACCACACCCCATACAC ACCACACACCACACACACCACACACCCCACACACACCACACCCCATACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870213	C C	CCCACACA others(200): Show CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC AAACCACACACACCACACACCCCACACACACCACACAAACCACACACACC ACACACCCCACACACACCACACACCCCACACACACCACACACCCCACACA CACCACACAAACCACACACACCACACACCCCACACACACCACACACACAC ATCACATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	338	0.0030	207	c.35 others(226): Show c.35+21490_*35+21491insCACACCCCACACACACCACACACCCC ACACACACCACACAAACCACACACACCACACACCCCACACACACCACACA AACCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACACCCCACACACACCACACAAACCACACACACCACACACCCCACACAC ACCACACACACACATCACATACCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2Z_chr17_48903407_48934056	48916425	A A	ATATTTTT others(200): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	330	0.0030	207	c.690 others(222): Show c.690+245_690+246insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGTATTTTT	UBE2Z	ENSG00000159202.18	transcript	ENST00000360943.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(200): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATACGTATATATACGTA TATATATACGTATATATACGTATATATATGTATATATATATGTATATATA CGTATATATATACGTATATATATATGTATATATATATGTATATATGTATA TATATATG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0120 a0004c0006t0001g0120	1	186	0.0054	207	c.114 others(228): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACGTATATATACGTA TATATATACATATATATATACGTATATATATATACATATATATACGTATA TAATATATACGTATATATATATACATATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UGT1A10_chr2_233631448_233778300	233725219	G G	GGGAGAGG others(200): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	302	0.0033	207	c.856 others(226): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233725219	G G	GGGAGAGG others(200): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0002	1	350	0.0029	207	c.-39 others(218): Show c.-3908_-3907insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		3822		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725219	G G	GGGAGAGG others(200): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0029 a0003c0004t0002g0029	1	332	0.0030	207	c.867 others(224): Show c.867+5533_867+5534insGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)