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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⚠️ 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
ZSCAN32_chr16_3377085_3406004	3393218	A A	AGAAATAT others(46): Show AGAAATATATATATTTATATATATAAAATATATATATATAAATATATATA TATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	400	0.0025	53	c.532 others(68): Show c.532+430_532+431insAATATATATATATTTATATATATATATTTT ATATATATAAATATATATATTTC	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSWIM5_chr1_45011399_45211605	45044744	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAAATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	234	0.0043	53	c.143 others(72): Show c.1433-1350_1433-1349insATATATATATATTTATATATATATAT ATATATATATATTTTTTTTTTTTTTTT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ZSWIM5_chr1_45011399_45211605	45044746	A A	AAAAAAAT others(46): Show AAAAAAATATATATATAAATATATATATATATATATATATATAAATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	234	0.0043	53	c.143 others(72): Show c.1433-1352_1433-1351insATATATATATTTATATATATATATAT ATATATATATTTATATATATATTTTTT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ZSWIM9_chr19_48165680_48202620	48187424	T T	TTATATAT others(46): Show TTATATATTATATATTAATTATATATATTATATATATTATATATTATATT ATAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	388	0.0026	53	c.588 others(70): Show c.588+4662_588+4663insATTATATATTAATTATATATATTATATA TATTATATATTATATTATAATATAT	ZSWIM9	ENSG00000185453.13	transcript	ENST00000614654.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAT others(46): Show AAAAAAATATATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	352	0.0028	53	c.952 others(70): Show c.952-3623_952-3622insAAAAATATATATATATATATATATATAT ATATATATATATATATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658166	T T	TTCTTTCT others(47): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	310	0.0032	54	c.386 others(71): Show c.386-3624_386-3623insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12662632	G G	GAAAAAAA others(47): Show GAAAAAAAGAAGGAAAAAGAGTAAAAGAAAAAGGAAAAAAAGAAGAAGAG TAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	310	0.0032	54	c.449 others(69): Show c.449+778_449+779insAAAAAAAGAAGGAAAAAGAGTAAAAGAAAA AGGAAAAAAAGAAGAAGAGTAAAA	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/3			chr1	TogoVar
AARS2_chr6_44293731_44318347	44296934	T T	TGGACTTG others(47): Show TGGACTTGGGCTTGGACTTGGGCTGGTGAAACCGCCAGTTCACTTACCAC AGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	396	0.0025	54	c.36 others(65): Show c.3612_*3613insGGGCTGTGGTAAGTGAACTGGCGGTTTCACCAGC CCAAGTCCAAGCCCAAGTCC	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding		1796		chr6	TogoVar
AATK_chr17_81112295_81171221	81139548	C C	CGGCCCTC others(47): Show CGGCCCTCTGCTGCCACACAAGCTGCACGGTGTCCCCCAGGCTCTTCCAA GCCCG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0002 a0001c0060t0002	a0001c0060t0002g0056 a0001c0060t0002g0056	1	368	0.0027	54	c.56- others(69): Show c.56-5048_56-5047insCGGGCTTGGAAGAGCCTGGGGGACACCGTG CAGCTTGTGTGGCAGCAGAGGGCC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8737985	G G	GAAGAAAG others(47): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAG AAAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG04204.hp2 HG01123.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0012 a0002c0004t0002 a0002c0002t0012 a0002c0004t0002	a0002c0002t0012g0259 a0002c0004t0002g0229 a0002c0002t0012g0259 a0002c0004t0002g0229	2	362	0.0055	54	c.70+ others(69): Show c.70+2179_70+2180insAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737985	G G	GAAGAAAG others(47): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02155.hp1 HG02486.hp1 others(4): Show HG01515.hp2 HG02155.hp1 HG02486.hp1 NA18960.hp2 NA18967.hp2 NA19056.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001	a0001c0001t0001g0173 a0001c0001t0001g0239 a0001c0001t0001g0253 others(4): Show a0001c0001t0001g0173 a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0003g0088 a0002c0002t0001g0033	7	362	0.0193	54	c.70+ others(69): Show c.70+2179_70+2180insAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAGAAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737985	G G	GAAGAAAG others(47): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	1	362	0.0028	54	c.70+ others(69): Show c.70+2179_70+2180insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAGAAAGAAAGAAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737985	G G	GAAGAAAG others(47): Show GAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0231 a0002c0004t0003g0231	1	362	0.0028	54	c.70+ others(69): Show c.70+2179_70+2180insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA13_chr7_48166458_48652497	48411310	T T	TTTTCTTT others(47): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG02572.hp1 others(3): Show HG00408.hp2 HG00544.hp1 HG02572.hp1 HG02809.hp2 HG02895.hp2 NA18977.hp2	a0002 a0005 a0015 others(3): Show a0002 a0005 a0015 a0018 a0069 a0086	a0002c0022 a0005c0005 a0015c0025 others(3): Show a0002c0022 a0005c0005 a0015c0025 a0018c0029 a0069c0066 a0086c0059	a0002c0022t0002 a0005c0005t0003 a0015c0025t0003 others(3): Show a0002c0022t0002 a0005c0005t0003 a0015c0025t0003 a0018c0029t0001 a0069c0066t0001 a0086c0059t0003	a0002c0022t0002g0124 a0005c0005t0003g0132 a0015c0025t0003g0025 others(3): Show a0002c0022t0002g0124 a0005c0005t0003g0132 a0015c0025t0003g0025 a0018c0029t0001g0134 a0069c0066t0001g0143 a0086c0059t0003g0172	6	178	0.0337	54	c.122 others(73): Show c.12228+650_12228+651insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTCTTTTCTTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862750	C C	CCCCCACC others(47): Show CCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACC CCCAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0028 a0006c0012t0002g0028	1	318	0.0031	54	c.422 others(69): Show c.422-951_422-950insTTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA5_chr17_69239311_69332133	69303827	T T	TATACATA others(47): Show TATACATACATATATATATATACATATATATATATATACATACATATATA TATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0346 a0005c0007t0006g0346	1	350	0.0029	54	c.930 others(69): Show c.930+841_930+842insGTATATATATATGTATGTATATATATATAT ATGTATATATATATATGTATGTAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA7_chr19_1035107_1070572	1049770	G G	GCCCCCCG others(47): Show GCCCCCCGACCACTCCCTCCCTGTGAGCCTCCCCGGACCACTCCCTACCT GTGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	30	0.0333	54	c.255 others(71): Show c.2552+339_2552+340insGACCACTCCCTCCCTGTGAGCCTCCCCG GACCACTCCCTACCTGTGAACCCCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB10_chr1_229511582_229563707	229552077	T T	TAGCTGAA others(47): Show TAGCTGAATCCAAATTAATTTCAGGATATCCCCCCACACTTTTACTTTTT AATAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	284	0.0035	54	c.518 others(71): Show c.518-2697_518-2644dupTTATTAAAAAGTAAAAGTGTGGGGGGAT ATCCTGAAATTAATTTGGATTCAGCT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/12			chr1	TogoVar
ABCB1_chr7_87498017_87605884	87502516	T T	TTATATAT others(47): Show TTATATATATATATAATTATATATAATTATATATATATAAAATTATATAT AATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0104 a0001c0006t0001g0104	1	352	0.0028	54	c.17 others(65): Show c.1726_*1727insTAATTATATATAATTTTATATATATATAATTATA TATAATTATATATATATATA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding		500		chr7	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCCTC others(47): Show CTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTTCTTCTTTC TTCTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0149 a0001c0014t0003g0149	1	249	0.0040	54	c.49- others(69): Show c.49-7977_49-7976insCCTCTCTCTCTCTCTCTCTCTCTCTCTGTC TCTTTCTTCTTCTTTCTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(47): Show CTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0004 a0001c0008t0009g0004	1	249	0.0040	54	c.49- others(69): Show c.49-7977_49-7976insCTCTCTCTCTCTGTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATATACAC others(47): Show ATATACACATATACACACACATATGTGTATATACACATATACACACACAT ATGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG02280.hp1 others(4): Show HG00323.hp1 HG01070.hp2 HG02280.hp1 HG02886.hp1 HG02970.hp1 HG03017.hp2 HG04204.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0006c0009 a0010c0013	a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 a0006c0009t0001 a0010c0013t0001	a0001c0001t0001g0162 a0001c0002t0003g0166 a0002c0003t0001g0192 others(4): Show a0001c0001t0001g0162 a0001c0002t0003g0166 a0002c0003t0001g0192 a0002c0003t0001g0326 a0006c0009t0001g0161 a0010c0013t0001g0327 a0010c0013t0001g0328	7	336	0.0208	54	c.209 others(73): Show c.2094+1385_2094+1386insCACATATACACACACATATGTGTATA TACACATATACACACACATATGTGTATA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814594	T T	TACACACA others(47): Show TACACACACATGTGTATATACACATACACACACACATATGTGTATATACA CATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0178 a0006c0009t0001g0178	1	336	0.0030	54	c.209 others(73): Show c.2094+1460_2094+1461insGTGTATATACACATACACACACACAT ATGTGTATATACACATACACACACACAT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814594	T T	TACACACA others(47): Show TACACACATATGTGTATATACACATACACACACACATATGTGTATATACA CATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0155 a0006c0009t0001g0155	1	336	0.0030	54	c.209 others(73): Show c.2094+1457_2094+1458insTATGTGTATATACACATACACACACA CATATGTGTATATACACATACACACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814650	C C	CACACACA others(47): Show CACACACATATGTGTATATACACATATACACACACATATGTGTATATACA CATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02083.hp1 NA19080.hp1 HG02015.hp2 HG02083.hp1 NA19080.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0025c0031 a0001c0001 a0025c0031	a0001c0001t0001 a0025c0031t0001 a0001c0001t0001 a0025c0031t0001	a0001c0001t0001g0188 a0001c0001t0001g0198 a0025c0031t0001g0143 a0001c0001t0001g0188 a0001c0001t0001g0198 a0025c0031t0001g0143	3	336	0.0089	54	c.209 others(73): Show c.2094+1540_2094+1541insATATGTGTATATACACATATACACAC ATATGTGTATATACACATATACACACAC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838522	A A	ACCTCCCG others(47): Show ACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCA ACCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02109.hp1 others(4): Show HG01496.hp2 HG02055.hp1 HG02109.hp1 HG02622.hp2 HG02896.hp2 HG03540.hp1 NA18906.hp1	a0004 a0004	a0004c0006 a0004c0029 a0004c0006 a0004c0029	a0004c0006t0001 a0004c0029t0001 a0004c0006t0001 a0004c0029t0001	a0004c0006t0001g0020 a0004c0006t0001g0036 a0004c0006t0001g0078 others(4): Show a0004c0006t0001g0020 a0004c0006t0001g0036 a0004c0006t0001g0078 a0004c0006t0001g0079 a0004c0006t0001g0088 a0004c0006t0001g0138 a0004c0029t0001g0331	7	336	0.0208	54	c.361 others(73): Show c.3614+2238_3614+2239insGGACAGGGCGGCTGGCTGGGCGGGGG GGCTGACCCCCCCCCCAACCTCCCTCCC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838522	A A	ACCTCCCG others(47): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCC ACCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp1 HG00642.hp2 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0016 a0001c0002t0006g0017 a0001c0002t0006g0016 a0001c0002t0006g0017	2	336	0.0060	54	c.361 others(73): Show c.3614+2238_3614+2239insGGACGGGGCGGCTGGCCGGGCAGGGG GGCCGACCCCCCCCCCCACCTCCCTCCC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(47): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCC ACCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0016 a0001c0002t0006g0016	1	336	0.0030	54	c.361 others(73): Show c.3614+2662_3614+2663insAGGGGGGCAGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(47): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0332 a0002c0002t0004g0332	1	350	0.0029	54	c.842 others(69): Show c.842-199_842-198insTATATATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABHD12B_chr14_50867053_50909970	50870949	A A	AAGAAAGA others(47): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	376	0.0027	54	c.-12 others(65): Show c.-1226_-1225insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1103		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(47): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	376	0.0027	54	c.-11 others(65): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(47): Show GAAAGAAAGAAAGAAAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0280 a0002c0002t0002g0280	1	376	0.0027	54	c.-11 others(65): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAAAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(47): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0015 a0002c0004t0002g0015	1	376	0.0027	54	c.-11 others(65): Show c.-1192_-1191insAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABI2_chr2_203323394_203437169	203338983	A A	AATATATA others(47): Show AATATATATATATATATATATAAATATATATATATATATATAAATATATA TATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	320	0.0031	54	c.117 others(73): Show c.117+10373_117+10374insAATATATATATATATATATAAATATA TATATATATATATATATATATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABLIM2_chr4_7960327_8163813	8091379	T T	TATATATT others(47): Show TATATATTTTATATTTTATATATTTTGTATAAAATATATAAAATATAAAA TATTA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	322	0.0031	54	c.339 others(71): Show c.339-3096_339-3095insTAATATTTTATATTTTATATATTTTATA CAAAATATATAAAATATAAAATATAT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20			chr4	TogoVar
ABR_chr17_998519_1184981	1143246	A A	ACAGCTCA others(47): Show ACAGCTCATTCCTGGGGGACAGCTCGCTCCTGGGGGGCAGCTCGCTCCTG GGGGG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18999.hp2 NA19065.hp1 others(1): Show NA18940.hp1 NA18999.hp2 NA19065.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015	a0001c0001t0002g0088 a0001c0001t0004g0290 a0001c0001t0005g0291 others(1): Show a0001c0001t0002g0088 a0001c0001t0004g0290 a0001c0001t0005g0291 a0001c0001t0015g0265	4	337	0.0119	54	c.62- others(71): Show c.62-17880_62-17879insCCCCCCAGGAGCGAGCTGCCCCCCAGGA GCGAGCTGTCCCCCAGGAATGAGCTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143488	C C	CTCCTGGG others(47): Show CTCCTGGGGGACAGCTCATTCCTGGGGGACAGCTCGCTCCTGGGGGGCAG CTCAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(96): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02572.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19080.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0041 a0001c0001t0044 a0001c0001t0049 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0001c0001t0076 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0087 a0001c0001t0089 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0056 a0001c0003t0023 a0001c0003t0025 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0061 others(95): Show a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0002g0114 a0001c0001t0002g0131 a0001c0001t0002g0170 a0001c0001t0002g0180 a0001c0001t0002g0209 a0001c0001t0003g0068 a0001c0001t0003g0079 a0001c0001t0003g0092 a0001c0001t0003g0130 a0001c0001t0003g0150 a0001c0001t0003g0168 a0001c0001t0003g0192 a0001c0001t0003g0200 a0001c0001t0004g0297 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0254 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0278 a0001c0001t0005g0296 a0001c0001t0005g0304 a0001c0001t0005g0318 a0001c0001t0005g0322 a0001c0001t0006g0090 a0001c0001t0006g0141 a0001c0001t0006g0147 a0001c0001t0006g0208 a0001c0001t0007g0249 a0001c0001t0007g0306 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0333 a0001c0001t0008g0007 a0001c0001t0009g0004 a0001c0001t0009g0023 a0001c0001t0009g0050 a0001c0001t0010g0274 a0001c0001t0010g0314 a0001c0001t0011g0246 a0001c0001t0012g0093 a0001c0001t0013g0048 a0001c0001t0013g0049 a0001c0001t0014g0103 a0001c0001t0015g0275 a0001c0001t0015g0292 a0001c0001t0019g0057 a0001c0001t0019g0211 a0001c0001t0021g0272 a0001c0001t0022g0047 a0001c0001t0030g0210 a0001c0001t0032g0303 a0001c0001t0033g0264 a0001c0001t0036g0044 a0001c0001t0041g0015 a0001c0001t0044g0021 a0001c0001t0049g0193 a0001c0001t0057g0174 a0001c0001t0058g0076 a0001c0001t0059g0166 a0001c0001t0063g0189 a0001c0001t0069g0153 a0001c0001t0072g0175 a0001c0001t0074g0115 a0001c0001t0076g0171 a0001c0001t0079g0267 a0001c0001t0081g0253 a0001c0001t0082g0302 a0001c0001t0087g0311 a0001c0001t0089g0331 a0001c0002t0001g0164 a0001c0002t0001g0205 a0001c0002t0002g0172 a0001c0002t0007g0295 a0001c0002t0056g0155 a0001c0003t0023g0005 a0001c0003t0025g0006 a0001c0003t0025g0009 a0001c0010t0001g0139	99	337	0.2938	54	c.62- others(71): Show c.62-18122_62-18121insATGAGCTGCCCCCCAGGAGCGAGCTGTC CCCCAGGAATGAGCTGTCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288275	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	295	0.0034	54	c.52 others(65): Show c.5288_*5289insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4115		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288347	C C	CCCCGTGT others(47): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	295	0.0034	54	c.52 others(65): Show c.5216_*5217insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4043		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288374	C C	CCTGCTCC others(47): Show CCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	295	0.0034	54	c.51 others(65): Show c.5189_*5190insACACGGGACGGAGCAGGGACACGGGGGACGGGGC AGAGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4016		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288392	C C	CCTGCTCC others(47): Show CCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	295	0.0034	54	c.51 others(65): Show c.5171_*5172insACACGGGACGGAGCAGGGACACGGGGGACGGGGC AGAGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3998		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CCCCGAGT others(47): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	295	0.0034	54	c.50 others(65): Show c.5014_*5015insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACTCGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CCCCGTGT others(47): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	295	0.0034	54	c.50 others(65): Show c.5014_*5015insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	295	0.0034	54	c.50 others(65): Show c.5014_*5015insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288671	C C	CTCTGCTC others(47): Show CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC CCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0134 a0001c0003t0002g0134	1	295	0.0034	54	c.48 others(65): Show c.4892_*4893insCACGGGGGACGGAGCAGGGACACGGGACGGAGCA GAGACACGGGACGGAGCAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288690	C C	CCTGCTCC others(47): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	295	0.0034	54	c.48 others(65): Show c.4873_*4874insAGACACGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3700		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288701	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	295	0.0034	54	c.48 others(65): Show c.4862_*4863insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3689		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288793	C C	CCCCGTGT others(47): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	54	c.47 others(65): Show c.4770_*4771insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGGGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3597		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288793	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	54	c.47 others(65): Show c.4770_*4771insACGGAGCAGAGACACGGGGAATGGAGCAGAGACA CGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3597		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289035	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGC CCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	54	c.45 others(65): Show c.4528_*4529insACGGGGCAGGGACACGGGACGGGGCAGAGACACG GGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3355		chr1	TogoVar

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Search Results (Total: 10000 hits)