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
ANKRD11_chr16_89262630_89495561	89306157	C C	CACCTCCC others(22): Show CACCTCCCACTCCGCAGACACGCGCCACCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01358.hp1 HG01515.hp2 HG00323.hp2 HG01358.hp1 HG01515.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0058 a0001c0001 a0002c0002 a0014c0058	a0001c0001t0001 a0002c0002t0002 a0014c0058t0001 a0001c0001t0001 a0002c0002t0002 a0014c0058t0001	a0001c0001t0001g0060 a0002c0002t0002g0153 a0014c0058t0001g0013 a0001c0001t0001g0060 a0002c0002t0002g0153 a0014c0058t0001g0013	3	310	0.0097	29	c.88- others(42): Show c.88-842_88-814dupAGGTGGCGCGTGTCTGCGGAGTGGGAGGT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306238	G G	GCCACCTC others(22): Show GCCACCTCCCACTCCGCAGACACGCGCCAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02071.hp2 HG02145.hp1 others(16): Show HG01109.hp1 HG02071.hp2 HG02145.hp1 HG02451.hp2 HG02735.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp1 HG04184.hp2 HG04204.hp1 NA18975.hp1 NA19043.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0013 a0028	a0001c0001 a0001c0024 a0003c0038 others(3): Show a0001c0001 a0001c0024 a0003c0038 a0004c0004 a0013c0019 a0028c0056	a0001c0001t0001 a0001c0024t0001 a0003c0038t0001 others(3): Show a0001c0001t0001 a0001c0024t0001 a0003c0038t0001 a0004c0004t0001 a0013c0019t0004 a0028c0056t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 others(16): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0151 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0024t0001g0270 a0003c0038t0001g0201 a0004c0004t0001g0093 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0119 a0013c0019t0004g0083 a0013c0019t0004g0084 a0028c0056t0001g0127	19	310	0.0613	29	c.88- others(42): Show c.88-923_88-895dupGTGGCGCGTGTCTGCGGAGTGGGAGGTGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306292	G G	GCCACCCA others(22): Show GCCACCCACCTCCCACTCCGCAGACACGCA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	310	0.0032	29	c.88- others(42): Show c.88-949_88-948insTGCGTGTCTGCGGAGTGGGAGGTGGGTGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306676	C C	CACCTCCC others(22): Show CACCTCCCACTCCGCAGACACGCGCCACCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(19): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00673.hp1 HG01257.hp1 HG02129.hp1 HG02132.hp1 HG02523.hp1 HG03710.hp2 HG04184.hp1 NA18950.hp1 NA18953.hp2 NA18962.hp1 NA18979.hp2 NA18994.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19080.hp2 NA20752.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0006 a0016 a0017 a0020	a0002c0002 a0004c0004 a0005c0005 others(4): Show a0002c0002 a0004c0004 a0005c0005 a0006c0010 a0016c0036 a0017c0035 a0020c0033	a0002c0002t0002 a0004c0004t0001 a0005c0005t0001 others(4): Show a0002c0002t0002 a0004c0004t0001 a0005c0005t0001 a0006c0010t0001 a0016c0036t0001 a0017c0035t0001 a0020c0033t0001	a0002c0002t0002g0139 a0002c0002t0002g0216 a0004c0004t0001g0005 others(19): Show a0002c0002t0002g0139 a0002c0002t0002g0216 a0004c0004t0001g0005 a0004c0004t0001g0100 a0004c0004t0001g0165 a0004c0004t0001g0256 a0004c0004t0001g0261 a0004c0004t0001g0279 a0004c0004t0001g0288 a0004c0004t0001g0290 a0005c0005t0001g0032 a0005c0005t0001g0033 a0005c0005t0001g0038 a0005c0005t0001g0068 a0005c0005t0001g0073 a0005c0005t0001g0088 a0006c0010t0001g0189 a0006c0010t0001g0226 a0006c0010t0001g0228 a0016c0036t0001g0209 a0017c0035t0001g0255 a0020c0033t0001g0061	22	310	0.0710	29	c.88- others(44): Show c.88-1333_88-1332insAGGTGGCGCGTGTCTGCGGAGTGGGAGGT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89384879	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0058 a0002c0002t0002g0058	1	310	0.0032	29	c.-60 others(48): Show c.-60+33404_-60+33405insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02523.hp1 NA18612.hp1 others(2): Show HG01515.hp1 HG02523.hp1 NA18612.hp1 NA18994.hp1 NA19079.hp1	a0002 a0003 a0016 a0002 a0003 a0016	a0002c0002 a0003c0003 a0016c0036 a0002c0002 a0003c0003 a0016c0036	a0002c0002t0002 a0003c0003t0001 a0016c0036t0001 a0002c0002t0002 a0003c0003t0001 a0016c0036t0001	a0002c0002t0002g0112 a0002c0002t0002g0240 a0002c0002t0002g0243 others(2): Show a0002c0002t0002g0112 a0002c0002t0002g0240 a0002c0002t0002g0243 a0003c0003t0001g0300 a0016c0036t0001g0209	5	310	0.0161	29	c.-60 others(46): Show c.-60+2454_-60+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0273 a0001c0003t0003g0273	1	292	0.0034	29	c.696 others(48): Show c.6962-1474_6962-1473insATATATATATATATATATATTTTTTT TTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0257 a0001c0003t0003g0257	1	292	0.0034	29	c.696 others(48): Show c.6962-1474_6962-1473insATATATATATATATATATATATTTTT TTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	292	0.0034	29	c.696 others(48): Show c.6962-1474_6962-1473insATATATATATATATATATATATATTT TTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0223 a0001c0012t0001g0223	1	292	0.0034	29	c.696 others(48): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT TTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD1_chr10_90907096_90926087	90918983	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	468	0.0021	29	c.346 others(42): Show c.346-12_346-11insATATATATATATATATATATATATATATA	ANKRD1	ENSG00000148677.7	transcript	ENST00000371697.4	protein_coding	3/8			chr10	TogoVar
ANKRD1_chr10_90907096_90926087	90918989	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	468	0.0021	29	c.346 others(42): Show c.346-18_346-17insTATATATATATATATATATATATATATAT	ANKRD1	ENSG00000148677.7	transcript	ENST00000371697.4	protein_coding	3/8			chr10	TogoVar
ANKRD22_chr10_88814896_88856844	88822544	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03492.hp2 NA18992.hp1 NA19000.hp1 HG03492.hp2 NA18992.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0050 a0001c0001t0039 a0001c0001t0050	a0001c0001t0039g0118 a0001c0001t0039g0246 a0001c0001t0050g0062 a0001c0001t0039g0118 a0001c0001t0039g0246 a0001c0001t0050g0062	3	418	0.0072	29	c.39 others(38): Show c.396_*397insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	6/6	396		chr10	TogoVar
ANKRD22_chr10_88814896_88856844	88823827	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp2 HG02647.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0126 a0001c0001t0017g0217 a0001c0001t0017g0126 a0001c0001t0017g0217	2	418	0.0048	29	c.400 others(44): Show c.400-450_400-449insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	4/5			chr10	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(22): Show GAGGGAGGGAGGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp2 HG02258.hp2 HG02886.hp2	a0001 a0005 a0001 a0005	a0001c0012 a0005c0006 a0001c0012 a0005c0006	a0001c0012t0003 a0005c0006t0001 a0001c0012t0003 a0005c0006t0001	a0001c0012t0003g0176 a0005c0006t0001g0177 a0001c0012t0003g0176 a0005c0006t0001g0177	2	356	0.0056	29	c.37- others(44): Show c.37-5835_37-5834insGAGGGAGGGAAGGAAGGAAGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(22): Show GAGGGAGGGAGGGAGGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 NA18990.hp2 HG00639.hp1 HG00642.hp2 NA18990.hp2	a0003 a0009 a0030 a0003 a0009 a0030	a0003c0009 a0009c0014 a0030c0053 a0003c0009 a0009c0014 a0030c0053	a0003c0009t0002 a0009c0014t0001 a0030c0053t0001 a0003c0009t0002 a0009c0014t0001 a0030c0053t0001	a0003c0009t0002g0348 a0009c0014t0001g0010 a0030c0053t0001g0219 a0003c0009t0002g0348 a0009c0014t0001g0010 a0030c0053t0001g0219	3	356	0.0084	29	c.37- others(44): Show c.37-5835_37-5834insGAGGGAGGGAGGGAAGGAAGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(22): Show GAGGGAGGGAGGGAGGGAGGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00642.hp1 others(28): Show HG00609.hp1 HG00621.hp1 HG00642.hp1 HG01070.hp1 HG01192.hp1 HG01433.hp2 HG02074.hp2 HG02080.hp1 HG03017.hp1 HG03098.hp2 HG03831.hp2 HG04199.hp1 NA18747.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18960.hp2 NA18968.hp1 NA18971.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18985.hp1 NA18987.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18997.hp1 NA19011.hp1 NA19065.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0016 a0019	a0001c0002 a0002c0001 a0002c0018 others(6): Show a0001c0002 a0002c0001 a0002c0018 a0003c0003 a0003c0009 a0004c0004 a0004c0005 a0016c0039 a0019c0022	a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 others(10): Show a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0002c0018t0002 a0003c0003t0001 a0003c0003t0002 a0003c0009t0002 a0004c0004t0002 a0004c0005t0002 a0016c0039t0002 a0019c0022t0002	a0001c0002t0001g0199 a0001c0002t0002g0246 a0001c0002t0002g0296 others(28): Show a0001c0002t0001g0199 a0001c0002t0002g0246 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0301 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0321 a0001c0002t0002g0324 a0001c0002t0002g0334 a0001c0002t0002g0349 a0002c0001t0001g0158 a0002c0001t0002g0248 a0002c0001t0002g0249 a0002c0001t0002g0304 a0002c0001t0002g0306 a0002c0001t0002g0325 a0002c0001t0002g0336 a0002c0001t0002g0353 a0002c0001t0006g0329 a0002c0018t0002g0302 a0003c0003t0001g0245 a0003c0003t0002g0345 a0003c0009t0002g0320 a0003c0009t0002g0344 a0004c0004t0002g0332 a0004c0004t0002g0342 a0004c0005t0002g0343 a0016c0039t0002g0313 a0019c0022t0002g0337	31	356	0.0871	29	c.37- others(44): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAAGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(22): Show GAGGGAGGGAGGGAGGGAGGGAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03471.hp1 HG01261.hp2 HG03471.hp1	a0003 a0037 a0003 a0037	a0003c0015 a0037c0029 a0003c0015 a0037c0029	a0003c0015t0002 a0037c0029t0005 a0003c0015t0002 a0037c0029t0005	a0003c0015t0002g0299 a0037c0029t0005g0327 a0003c0015t0002g0299 a0037c0029t0005g0327	2	356	0.0056	29	c.37- others(44): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(22): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG06807.hp2 NA18975.hp2 HG02486.hp1 HG06807.hp2 NA18975.hp2	a0001 a0004 a0001 a0004	a0001c0012 a0004c0004 a0004c0027 a0001c0012 a0004c0004 a0004c0027	a0001c0012t0003 a0004c0004t0001 a0004c0027t0001 a0001c0012t0003 a0004c0004t0001 a0004c0027t0001	a0001c0012t0003g0080 a0004c0004t0001g0021 a0004c0027t0001g0013 a0001c0012t0003g0080 a0004c0004t0001g0021 a0004c0027t0001g0013	3	356	0.0084	29	c.37- others(44): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193846	A A	AGGGAGGG others(22): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0090 a0004c0005t0001g0090	1	356	0.0028	29	c.37- others(44): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4223401	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0079 a0004c0027t0001g0079	1	356	0.0028	29	c.329 others(46): Show c.3297+607_3297+608insATATATATATATATATATATATATTTTT T	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD27_chr19_32592006_32680180	32656103	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA20905.hp1 HG03490.hp2 HG03492.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0008 a0001c0003t0004g0010 a0001c0003t0004g0014 a0001c0003t0004g0008 a0001c0003t0004g0010 a0001c0003t0004g0014	3	348	0.0086	29	c.102 others(46): Show c.102+2810_102+2811insTCTTTTCTTTTCTTTTCCTTTCTTTCTT T	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding	2/28			chr19	TogoVar
ANKRD28_chr3_15662236_15802979	15800203	G G	GAAAAAAA others(22): Show GAAAAAAATAACCTGCAAAGATTTTTGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	340	0.0029	29	c.-37 others(40): Show c.-3711_-3683dupAGACAAAAATCTTTGCAGGTTATTTTTTT	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding		2225		chr3	TogoVar
ANKRD30B_chr18_14743172_14859667	14747257	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG02145.hp2 HG01952.hp2 HG02145.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0001 a0011c0014t0001 a0001c0001t0001 a0011c0014t0001	a0001c0001t0001g0025 a0011c0014t0001g0086 a0001c0001t0001g0025 a0011c0014t0001g0086	2	316	0.0063	29	c.-11 others(40): Show c.-1163_-1162insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		914		chr18	TogoVar
ANKRD34B_chr5_80551755_80575280	80567621	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01257.hp2 HG01167.hp1 HG01169.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113	3	392	0.0077	29	c.-19 others(46): Show c.-190-848_-190-847insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	2/4			chr5	TogoVar
ANKRD35_chr1_145861564_145890866	145889715	T T	TATGTGTA others(22): Show TATGTGTATATATGTATATATGTATATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02818.hp2 others(2): Show HG02145.hp1 HG02622.hp1 HG02818.hp2 HG03130.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0048 a0004c0004t0001g0049 a0004c0004t0001g0050 others(2): Show a0001c0001t0001g0048 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0051 a0004c0004t0001g0052	5	400	0.0125	29	c.-39 others(40): Show c.-3958_-3957insTACATATACATATATACATATATACACAT	ANKRD35	ENSG00000198483.13	transcript	ENST00000355594.9	protein_coding		3850		chr1	TogoVar
ANKRD55_chr5_56094680_56238330	56112511	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	308	0.0033	29	c.966 others(44): Show c.966-730_966-729insGTTTTTTTTTTTGTTTTTTTTTTTTTTTT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/11			chr5	TogoVar
ANO2_chr12_5557655_5950259	5947276	T T	TAACCTTT others(22): Show TAACCTTTTAATTACTGAGTAGTTACATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0033 a0013c0025t0001g0033	1	162	0.0062	29	c.-20 others(40): Show c.-2060_-2059insTTATGTAACTACTCAGTAATTAAAAGGTT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding		2018		chr12	TogoVar
ANO6_chr12_45211095_45437349	45432288	C C	CTGTGCAT others(22): Show CTGTGCATTTTAATATTCTTTTATAATTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02257.hp2 HG02258.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0014 a0005c0008t0014	a0005c0008t0014g0143 a0005c0008t0014g0147 a0005c0008t0014g0143 a0005c0008t0014g0147	2	234	0.0086	29	c.29 others(40): Show c.2978_*3006dupTGTGCATTTTAATATTCTTTTATAATTAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	20/20	3007	INFO_REALIGN_3_PRIME	chr12	TogoVar
ANTXR2_chr4_79896146_80078229	79972920	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00733.hp1 others(25): Show HG00140.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp2 HG01517.hp1 HG02015.hp2 HG02080.hp1 HG02109.hp2 HG02280.hp1 HG02572.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG03486.hp2 HG03579.hp1 HG03654.hp2 HG03927.hp2 NA18522.hp1 NA18986.hp1 NA19084.hp1 NA20300.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 others(10): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0012 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0002t0025 a0002c0002t0036 a0002c0002t0058 a0002c0002t0060 a0002c0002t0080	a0002c0002t0004g0041 a0002c0002t0004g0077 a0002c0002t0004g0078 others(25): Show a0002c0002t0004g0041 a0002c0002t0004g0077 a0002c0002t0004g0078 a0002c0002t0004g0080 a0002c0002t0004g0084 a0002c0002t0004g0085 a0002c0002t0004g0104 a0002c0002t0004g0130 a0002c0002t0004g0152 a0002c0002t0004g0160 a0002c0002t0004g0161 a0002c0002t0005g0058 a0002c0002t0008g0012 a0002c0002t0008g0023 a0002c0002t0012g0063 a0002c0002t0012g0075 a0002c0002t0012g0076 a0002c0002t0017g0167 a0002c0002t0018g0013 a0002c0002t0019g0014 a0002c0002t0019g0026 a0002c0002t0020g0033 a0002c0002t0020g0035 a0002c0002t0025g0208 a0002c0002t0036g0005 a0002c0002t0058g0074 a0002c0002t0060g0147 a0002c0002t0080g0247	28	268	0.1045	29	c.142 others(48): Show c.1428+4700_1428+4701insTTTTTTTTTCTTTTTTTTTTTTTTTT TTT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
ANXA10_chr4_168087537_168192736	168155457	T T	TTATAATA others(22): Show TTATAATATATAATTATAAATTATATATTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG03139.hp1 others(2): Show HG02280.hp1 HG02965.hp2 HG03139.hp1 HG03195.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0232 a0002c0002t0001g0274 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0232 a0002c0002t0001g0274 a0002c0002t0001g0275	5	284	0.0176	29	c.196 others(46): Show c.196-7053_196-7025dupAATTATATATTATATAATATATAATTAT A	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168156264	A A	ATATATTA others(22): Show ATATATTATATATAATAGTATATATTATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	284	0.0035	29	c.196 others(46): Show c.196-6239_196-6211dupTATATTATATTATATATAATAGTATATA T	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01346.hp2 others(2): Show HG00673.hp1 HG00673.hp2 HG01346.hp2 HG02040.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0151 a0001c0001t0001g0170 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0229	5	334	0.0150	29	c.-10 others(40): Show c.-1091_-1090insACTCCTCTCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	370	0.0027	29	c.317 others(46): Show c.3171+229_3171+230insAAAAAAAAAAAAATATATATATATATAT A	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG04199.hp1 NA19088.hp1 HG02155.hp1 HG04199.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0237 a0001c0001t0001g0355 a0001c0001t0001g0221 a0001c0001t0001g0237 a0001c0001t0001g0355	3	370	0.0081	29	c.317 others(46): Show c.3171+229_3171+230insAAAAAAAAAAATATATATATATATATAT A	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0110	1	394	0.0025	29	c.25 others(40): Show c.2518_*2519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03942.hp2 NA19082.hp1 others(2): Show HG02040.hp2 HG03942.hp2 NA19082.hp1 NA20129.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0011	a0001c0001t0001 a0001c0002t0002 a0001c0003t0006 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0006 a0005c0011t0002	a0001c0001t0001g0122 a0001c0002t0002g0250 a0001c0003t0006g0267 others(2): Show a0001c0001t0001g0122 a0001c0002t0002g0250 a0001c0003t0006g0267 a0001c0003t0006g0268 a0005c0011t0002g0243	5	268	0.0187	29	c.67+ others(44): Show c.67+9537_67+9538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3B1_chr5_77997326_78299698	78134149	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0226 a0001c0004t0002g0226	1	226	0.0044	29	c.165 others(48): Show c.1651-4843_1651-4842insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	15/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0024 a0001c0010t0002g0024	1	226	0.0044	29	c.787 others(48): Show c.787-12109_787-12108insAAAAAAAAAAATATATATATATATAT ATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	226	0.0044	29	c.787 others(48): Show c.787-12109_787-12108insAAAAAAAAAAAAAAATATATATATAT ATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCCCCCCC others(22): Show CCCCCCCCCCCCCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0017 a0002c0003t0014g0017	1	392	0.0026	29	c.185 others(48): Show c.1852-3307_1852-3306insCCCCCCCCCCCACACACACACACACA CAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
APAF1_chr12_98640290_98740433	98665278	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18522.hp1 HG03017.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0199 a0001c0001t0015g0129 a0001c0001t0004g0199 a0001c0001t0015g0129	2	366	0.0055	29	c.956 others(44): Show c.956-274_956-273insATATATATATATATATATATATATATATT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA2_chr15_28880974_29123315	29056610	C C	CTCCCTCC others(22): Show CTCCCTCCCTCCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0036 a0002c0016t0036	a0002c0016t0036g0001 a0002c0016t0036g0001	1	204	0.0049	29	c.951 others(46): Show c.951+1778_951+1779insCTCCCTCCCTTCCTTCCTTCCTTCCTTC C	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB2_chr4_40805027_41219542	40964753	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0031 a0001c0002t0022g0031	1	192	0.0052	29	c.836 others(48): Show c.836-19681_836-19680insGTGTGTGTGTGTGTGTGTGTGTGTGT GTG	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APELA_chr4_164872178_164902527	164878196	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0105 a0001c0001t0009g0105	1	434	0.0023	29	c.77- others(42): Show c.77-724_77-723insGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	1/2			chr4	TogoVar
APLF_chr2_68462585_68585162	68518611	T T	TAATATAT others(22): Show TAATATATCATGAATATATAATAATATATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01167.hp2 others(19): Show HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0002 a0006 a0008 others(1): Show a0002 a0006 a0008 a0012	a0002c0002 a0006c0007 a0008c0008 others(1): Show a0002c0002 a0006c0007 a0008c0008 a0012c0012	a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 others(6): Show a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0012 a0006c0007t0006 a0006c0007t0017 a0008c0008t0006 a0012c0012t0007	a0002c0002t0006g0161 a0002c0002t0006g0162 a0002c0002t0006g0163 others(17): Show a0002c0002t0006g0161 a0002c0002t0006g0162 a0002c0002t0006g0163 a0002c0002t0006g0164 a0002c0002t0007g0001 a0002c0002t0007g0029 a0002c0002t0007g0030 a0002c0002t0007g0031 a0002c0002t0008g0023 a0002c0002t0008g0024 a0002c0002t0008g0025 a0002c0002t0010g0167 a0002c0002t0010g0168 a0002c0002t0010g0169 a0002c0002t0012g0021 a0006c0007t0006g0002 a0006c0007t0006g0032 a0006c0007t0017g0022 a0008c0008t0006g0026 a0012c0012t0007g0027	22	176	0.1250	29	c.622 others(46): Show c.622+4933_622+4961dupATATATCATGAATATATAATAATATATC A	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLF_chr2_68462585_68585162	68518611	T T	TAATATAT others(22): Show TAATATATCATGAATATATAATAATATGTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01884.hp2 others(18): Show HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp2 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03453.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0011t0002 a0002c0002t0002 a0002c0011t0002	a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 others(18): Show a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0011t0002g0040	21	176	0.1193	29	c.622 others(46): Show c.622+4957_622+4958insGTCAATATATCATGAATATATAATAATA T	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLF_chr2_68462585_68585162	68519039	T T	TATAATAA others(22): Show TATAATAATATAATATATAATTAATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01884.hp2 others(17): Show HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp2 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03453.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0011t0002 a0002c0002t0002 a0002c0011t0002	a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 others(17): Show a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0011t0002g0040	20	176	0.1136	29	c.622 others(46): Show c.622+5395_622+5423dupATATAATATATAATTAATATATAATAAT A	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLF_chr2_68462585_68585162	68519039	T T	TATAATAA others(22): Show TATAATAATATAATATGTAATTAATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0003 a0002c0002t0009g0003	2	176	0.0114	29	c.622 others(46): Show c.622+5374_622+5375insGTAATTAATATATAATAATAATATAATA T	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APOA1_chr11_116830751_116842622	116842618	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG03942.hp2 HG01975.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	448	0.0045	29	c.-50 others(40): Show c.-5035_-5034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4997		chr11	TogoVar

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Search Results (Total: 6085 hits)