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
ACSM2A_chr16_20446521_20492669	20458903	TGCATATA others(4): Show TGCATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00558.hp2 others(40): Show HG00140.hp2 HG00408.hp1 HG00558.hp2 HG01074.hp1 HG01081.hp2 HG01258.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02698.hp1 HG02738.hp1 HG03669.hp2 HG04184.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp1 NA18957.hp1 NA18960.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19012.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19072.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1	a0003 a0004 a0019 a0003 a0004 a0019	a0003c0003 a0004c0004 a0019c0024 a0003c0003 a0004c0004 a0019c0024	a0003c0003t0002 a0003c0003t0003 a0003c0003t0009 others(2): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0009 a0004c0004t0002 a0019c0024t0002	a0003c0003t0002g0294 a0003c0003t0002g0305 a0003c0003t0002g0306 others(35): Show a0003c0003t0002g0294 a0003c0003t0002g0305 a0003c0003t0002g0306 a0003c0003t0002g0307 a0003c0003t0002g0308 a0003c0003t0002g0310 a0003c0003t0002g0314 a0003c0003t0002g0319 a0003c0003t0002g0331 a0003c0003t0002g0332 a0003c0003t0003g0303 a0003c0003t0009g0309 a0004c0004t0002g0003 a0004c0004t0002g0032 a0004c0004t0002g0289 a0004c0004t0002g0290 a0004c0004t0002g0292 a0004c0004t0002g0293 a0004c0004t0002g0296 a0004c0004t0002g0299 a0004c0004t0002g0300 a0004c0004t0002g0301 a0004c0004t0002g0302 a0004c0004t0002g0304 a0004c0004t0002g0312 a0004c0004t0002g0313 a0004c0004t0002g0315 a0004c0004t0002g0316 a0004c0004t0002g0317 a0004c0004t0002g0318 a0004c0004t0002g0320 a0004c0004t0002g0321 a0004c0004t0002g0333 a0004c0004t0002g0335 a0004c0004t0002g0336 a0004c0004t0002g0337 a0004c0004t0002g0376 a0019c0024t0002g0311	43	436	0.0986	-11	c.-8- others(26): Show c.-8-1203_-8-1193delGCATATATATA	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	1/13			chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566534	ATACTATA others(4): Show ATACTATATAAC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0155 a0007c0014t0001g0155	1	388	0.0026	-11	c.-8- others(26): Show c.-8-1692_-8-1682delGTTATATAGTA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421641	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0238 a0001c0040t0001g0238	1	434	0.0023	-11	c.767 others(26): Show c.767+241_767+251delTATATATATAT	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20430535	GGGAAGAA others(4): Show GGGAAGAAAATA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	434	0.0023	-11	c.112 others(28): Show c.1126-447_1126-437delAGGAAGAAAAT	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTA1_chr1_229426245_229439094	229435458	GTCCCTCT others(4): Show GTCCCTCTCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	450	0.0022	-11	c.-14 others(22): Show c.-1478_-1468delAGAGAGAGGGA	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1365		chr1	TogoVar
ACTG2_chr2_73888008_73924865	73898786	CTTTTCTT others(4): Show CTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(51): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02602.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04204.hp1 HG04228.hp2 NA18940.hp2 NA18950.hp2 NA18955.hp2 NA18960.hp1 NA18971.hp1 NA18991.hp2 NA18998.hp2 NA19000.hp2 NA19011.hp2 NA19043.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0003t0002	a0001c0001t0001g0126 a0001c0001t0001g0315 a0001c0001t0001g0349 others(48): Show a0001c0001t0001g0126 a0001c0001t0001g0315 a0001c0001t0001g0349 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0378 a0001c0001t0003g0120 a0001c0001t0003g0179 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0345 a0001c0001t0003g0379 a0001c0001t0005g0013 a0001c0001t0005g0178 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0095 a0001c0002t0001g0106 a0001c0002t0001g0125 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0223 a0001c0002t0001g0258 a0001c0002t0001g0263 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0296 a0001c0002t0001g0385 a0001c0002t0001g0397 a0001c0002t0002g0128 a0001c0002t0003g0019 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0037 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0003g0072 a0001c0002t0003g0102 a0001c0002t0003g0104 a0001c0002t0003g0124 a0001c0002t0003g0173 a0001c0002t0003g0176 a0001c0002t0003g0375 a0001c0002t0009g0387 a0001c0003t0002g0262	54	416	0.1298	-11	c.-36 others(28): Show c.-36-2474_-36-2464delCTTTTTTTTTT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTL6B_chr7_100638097_100661448	100652999	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG04115.hp1 NA18983.hp1 HG02976.hp1 HG04115.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0186 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0186	3	360	0.0083	-11	c.369 others(28): Show c.369+2009_369+2019delTTTTTTTTTTT	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13			chr7	TogoVar
ACTL8_chr1_17750333_17832063	17776969	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01169.hp2 HG01243.hp1 others(9): Show HG01069.hp2 HG01169.hp2 HG01243.hp1 HG03704.hp1 HG03831.hp2 NA18747.hp1 NA18975.hp1 NA18982.hp1 NA18986.hp1 NA19063.hp1 NA19081.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0126 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0126 a0001c0003t0001g0072 a0001c0003t0001g0165 a0001c0005t0001g0361 a0002c0002t0001g0054 a0002c0002t0001g0073 a0002c0002t0001g0247 a0002c0004t0001g0036 a0002c0004t0001g0052 a0002c0004t0001g0071	12	366	0.0328	-11	c.-25 others(30): Show c.-25+21491_-25+21501delTTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17799598	CTCTCTTT others(4): Show CTCTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02896.hp1 HG02723.hp1 HG02886.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0324 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0324	3	366	0.0082	-11	c.-24 others(30): Show c.-24-23381_-24-23371delTTTTTTTCTCT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17805371	CTTTTTCT others(4): Show CTTTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp1 others(48): Show HG00558.hp2 HG00597.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01258.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp2 HG02015.hp1 HG02071.hp1 HG02145.hp2 HG02257.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18943.hp2 NA18959.hp1 NA18967.hp1 NA18972.hp1 NA18982.hp1 NA18985.hp2 NA18992.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19063.hp1 NA19070.hp1 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0002c0002 a0002c0004 a0002c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0006 a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 a0001c0008t0001 a0002c0002t0001 a0002c0004t0001 a0002c0004t0004 a0002c0011t0005	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0037 others(47): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0068 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0167 a0001c0001t0001g0343 a0001c0001t0001g0358 a0001c0001t0005g0043 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0003t0001g0012 a0001c0003t0001g0074 a0001c0003t0001g0133 a0001c0003t0001g0165 a0001c0003t0001g0196 a0001c0003t0006g0334 a0001c0005t0001g0040 a0001c0005t0001g0325 a0001c0005t0001g0326 a0001c0005t0001g0361 a0001c0005t0003g0357 a0001c0005t0006g0018 a0001c0008t0001g0039 a0001c0008t0001g0109 a0001c0008t0001g0113 a0001c0008t0001g0183 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0016 a0002c0002t0001g0027 a0002c0002t0001g0035 a0002c0002t0001g0073 a0002c0002t0001g0083 a0002c0002t0001g0114 a0002c0002t0001g0218 a0002c0004t0001g0028 a0002c0004t0001g0036 a0002c0004t0001g0076 a0002c0004t0001g0092 a0002c0004t0001g0106 a0002c0004t0001g0169 a0002c0004t0001g0320 a0002c0004t0001g0336 a0002c0004t0004g0240 a0002c0004t0004g0243 a0002c0011t0005g0042 a0002c0011t0005g0338	51	366	0.1393	-11	c.-24 others(30): Show c.-24-17608_-24-17598delCTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL9_chr19_8692400_8703795	8694884	AGAGAGAG others(4): Show AGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	356	0.0028	-11	c.25 others(22): Show c.2556_*2566delCTCTCTCTCTC	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2515		chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40753382	ATGTTTTT others(4): Show ATGTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02451.hp1 others(10): Show HG01884.hp1 HG02055.hp2 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp1 HG03195.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0044 a0001c0001t0008g0118 others(1): Show a0001c0001t0008g0007 a0001c0001t0008g0044 a0001c0001t0008g0118 a0001c0001t0008g0119	13	426	0.0305	-11	c.-35 others(22): Show c.-3590_-3580delAAAAAAAAACA	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding		2906		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68872683	GCTCAAGT others(4): Show GCTCAAGTGATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02451.hp1 NA18906.hp1 HG02109.hp2 HG02451.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0001 a0001c0001t0001g0201 a0001c0001t0002g0001	3	284	0.0106	-11	c.21 others(22): Show c.2165_*2175delGATCACTTGAG	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding		1444		chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950294	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18989.hp2 NA18956.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0171 a0001c0001t0002g0050 a0001c0001t0001g0171 a0001c0001t0002g0050	2	284	0.0070	-11	c.106 others(30): Show c.106-24633_106-24623delTTTTTTTTTTT	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236715951	AAAAATAA others(4): Show AAAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0038 a0001c0009t0003g0038	1	344	0.0029	-11	c.127 others(28): Show c.127-1902_127-1892delTAAAAATAAAA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38680212	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00738.hp1 others(27): Show HG00280.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02135.hp2 HG02293.hp1 HG02647.hp1 HG02738.hp1 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03453.hp2 HG03710.hp1 HG04115.hp1 NA18522.hp2 NA18939.hp2 NA18966.hp2 NA18981.hp1 NA19010.hp1 NA19030.hp2 NA20805.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0020 a0005c0018	a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 others(10): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0040 a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 a0001c0006t0005 a0001c0006t0046 a0001c0006t0047 a0001c0007t0001 a0001c0020t0001 a0005c0018t0001	a0001c0001t0004g0271 a0001c0001t0006g0298 a0001c0002t0001g0226 others(27): Show a0001c0001t0004g0271 a0001c0001t0006g0298 a0001c0002t0001g0226 a0001c0002t0040g0203 a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 a0001c0004t0005g0225 a0001c0004t0005g0227 a0001c0004t0005g0229 a0001c0004t0005g0230 a0001c0004t0005g0231 a0001c0004t0005g0232 a0001c0004t0005g0240 a0001c0004t0005g0242 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0246 a0001c0004t0013g0228 a0001c0004t0013g0235 a0001c0004t0013g0236 a0001c0004t0013g0241 a0001c0004t0048g0223 a0001c0006t0005g0237 a0001c0006t0046g0238 a0001c0006t0047g0239 a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0020t0001g0234 a0005c0018t0001g0201	30	314	0.0955	-11	c.163 others(30): Show c.163-20365_163-20355delTTTTTTTTTTT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38713803	TCCCCGTG others(4): Show TCCCCGTGTGCA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02015.hp1 HG02040.hp2 others(27): Show HG00642.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02132.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18954.hp2 NA18955.hp2 NA18970.hp1 NA18993.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19079.hp1 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0020 a0001c0001t0036 a0001c0001t0044 a0001c0015t0004	a0001c0001t0004g0221 a0001c0001t0004g0255 a0001c0001t0004g0256 others(27): Show a0001c0001t0004g0221 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0285 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0006g0298 a0001c0001t0019g0297 a0001c0001t0019g0299 a0001c0001t0020g0269 a0001c0001t0020g0277 a0001c0001t0036g0268 a0001c0001t0044g0259 a0001c0015t0004g0247	30	314	0.0955	-11	c.820 others(26): Show c.820-661_820-651delGTGTGCACCCC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTR3B_chr7_152754752_152860378	152778943	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02132.hp2 HG02572.hp2 HG01346.hp1 HG02132.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0086 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0086	3	310	0.0097	-11	c.45- others(26): Show c.45-4212_45-4202delAAAAAAAAAAA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152834093	TTCTAAAT others(4): Show TTCTAAATTGTA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01952.hp1 others(16): Show HG01099.hp2 HG01106.hp2 HG01952.hp1 HG02083.hp1 HG02145.hp1 HG02257.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG03098.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 NA18906.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0004t0001g0303 a0001c0005t0001g0301	19	310	0.0613	-11	c.951 others(28): Show c.951+8972_951+8982delTCTAAATTGTA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	9/11			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150272670	CTTTTTTG others(4): Show CTTTTTTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02717.hp1 others(4): Show HG02258.hp2 HG02572.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 others(4): Show a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0213 a0002c0002t0006g0287	7	294	0.0238	-11	c.564 others(30): Show c.564+12072_564+12082delCACACAAAAAA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150283198	TTTATGAT others(4): Show TTTATGATGGGA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0268	1	294	0.0034	-11	c.564 others(28): Show c.564+1544_564+1554delTCCCATCATAA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150299484	AAAAAAAA others(4): Show AAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	294	0.0034	-11	c.-51 others(28): Show c.-51-4148_-51-4138delGTTTTTTTTTT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	1/7			chr7	TogoVar
ACTR3_chr2_113885089_113967596	113891456	AGAGAATA others(4): Show AGAGAATAGACT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	390	0.0026	-11	c.44+ others(26): Show c.44+1134_44+1144delGAGAATAGACT	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	1/11			chr2	TogoVar
ACTR5_chr20_38743460_38777520	38750597	GTTTTTTT others(4): Show GTTTTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(101): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02622.hp1 HG02630.hp2 HG02897.hp2 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19072.hp2 NA19080.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp1	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0002 a0008c0011 a0010c0012 a0002c0002 a0008c0011 a0010c0012	a0002c0002t0001 a0002c0002t0002 a0008c0011t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0008c0011t0001 a0010c0012t0001	a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0017 others(30): Show a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0002g0042 a0002c0002t0002g0107 a0008c0011t0001g0116 a0010c0012t0001g0104	104	366	0.2842	-11	c.605 others(26): Show c.605+373_605+383delTTTTTGTTTTT	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38759366	AACTCTAG others(4): Show AACTCTAGCGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(109): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19072.hp2 NA19080.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp1	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0002 a0008c0011 a0010c0012 a0002c0002 a0008c0011 a0010c0012	a0002c0002t0001 a0002c0002t0002 a0008c0011t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0008c0011t0001 a0010c0012t0001	a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0017 others(35): Show a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0002g0042 a0002c0002t0002g0107 a0008c0011t0001g0116 a0010c0012t0001g0104	112	366	0.3060	-11	c.117 others(30): Show c.1176+3329_1176+3339delCTCTAGCGAGA	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACTR6_chr12_100195815_100229424	100228606	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03098.hp1 NA20805.hp2 HG02809.hp2 HG03098.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032	3	242	0.0124	-11	c.46 others(22): Show c.4692_*4702delAAAAAAAAAAA	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		4183		chr12	TogoVar
ACTRT3_chr3_169761921_169774561	169771163	TATATATC others(4): Show TATATATCATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-11	c.-16 others(22): Show c.-1654_-1644delTTATGATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1603		chr3	TogoVar
ACVR1B_chr12_51946699_52002078	51994948	CCAGCATC others(4): Show CCAGCATCAGCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0269 a0001c0001t0027g0269	1	324	0.0031	-11	c.84 others(20): Show c.843_*853delATCAGCACAGC	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	843	INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157527136	TGAATATC others(4): Show TGAATATCATTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0048 a0001c0002t0028g0048	1	216	0.0046	-11	c.67 others(22): Show c.6771_*6781delGAATGATATTC	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	9/9	6771		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157551141	TGTGAAAT others(4): Show TGTGAAATAAAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp2 HG06807.hp2 HG02280.hp2 HG02922.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0029 a0001c0002t0028 a0002c0003t0009 a0001c0001t0029 a0001c0002t0028 a0002c0003t0009	a0001c0001t0029g0014 a0001c0002t0028g0048 a0002c0003t0009g0036 a0001c0001t0029g0014 a0001c0002t0028g0048 a0002c0003t0009g0036	3	216	0.0139	-11	c.545 others(26): Show c.545-760_545-750delCTTTATTTCAC	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157795417	CACACACA others(4): Show CACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	174	0.0058	-11	c.67+ others(26): Show c.67+3999_67+4009delTGTGTGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157805813	CTTTTTTC others(4): Show CTTTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	1	174	0.0058	-11	c.-7- others(26): Show c.-7-6324_-7-6314delAAAAGAAAAAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	2/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855268	AAGTGTGT others(4): Show AAGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	174	0.0058	-11	c.-18 others(32): Show c.-183+20517_-183+20527delACACACACACT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147845000	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01517.hp1 HG02602.hp2 others(2): Show HG01123.hp1 HG01517.hp1 HG02602.hp2 HG04184.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0071 a0001c0002t0001g0073 others(2): Show a0001c0002t0001g0063 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0077 a0001c0002t0001g0078	5	338	0.0148	-11	c.-15 others(20): Show c.-152_-142delTTTTTTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		28		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147859863	ACAGAAGC others(4): Show ACAGAAGCTCAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18959.hp2 NA18974.hp1 others(2): Show HG00408.hp1 NA18959.hp2 NA18974.hp1 NA19066.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0008 a0001c0008t0008 a0001c0001t0008 a0001c0008t0008	a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0124 others(2): Show a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0008t0008g0126	5	338	0.0148	-11	c.55+ others(28): Show c.55+14669_55+14679delAGAAGCTCACC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38466294	CGTAGGGT others(4): Show CGTAGGGTGCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp1 others(55): Show HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01106.hp1 HG01256.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02257.hp1 HG02735.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03834.hp2 HG04115.hp2 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18975.hp2 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19055.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19075.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19088.hp1 NA19089.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 others(36): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0052 a0001c0001t0057 a0001c0001t0064 a0001c0001t0112 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0134 a0001c0001t0138 a0001c0001t0139 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0152 a0001c0001t0158 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0201 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0205 a0001c0001t0206 a0001c0001t0207 a0001c0001t0208 a0001c0001t0209 a0001c0001t0210 a0001c0001t0211 a0001c0001t0212	a0001c0001t0008g0006 a0001c0001t0008g0008 a0001c0001t0008g0032 others(47): Show a0001c0001t0008g0006 a0001c0001t0008g0008 a0001c0001t0008g0032 a0001c0001t0008g0092 a0001c0001t0014g0006 a0001c0001t0014g0095 a0001c0001t0015g0006 a0001c0001t0015g0071 a0001c0001t0015g0105 a0001c0001t0018g0010 a0001c0001t0018g0030 a0001c0001t0025g0006 a0001c0001t0025g0098 a0001c0001t0026g0006 a0001c0001t0027g0008 a0001c0001t0027g0070 a0001c0001t0027g0101 a0001c0001t0030g0006 a0001c0001t0052g0006 a0001c0001t0052g0008 a0001c0001t0057g0031 a0001c0001t0064g0008 a0001c0001t0112g0018 a0001c0001t0114g0006 a0001c0001t0115g0097 a0001c0001t0116g0029 a0001c0001t0134g0018 a0001c0001t0138g0006 a0001c0001t0139g0018 a0001c0001t0145g0094 a0001c0001t0146g0102 a0001c0001t0147g0104 a0001c0001t0148g0029 a0001c0001t0152g0096 a0001c0001t0158g0006 a0001c0001t0166g0093 a0001c0001t0167g0109 a0001c0001t0168g0032 a0001c0001t0201g0010 a0001c0001t0202g0010 a0001c0001t0203g0010 a0001c0001t0204g0010 a0001c0001t0205g0099 a0001c0001t0206g0080 a0001c0001t0207g0069 a0001c0001t0208g0079 a0001c0001t0209g0006 a0001c0001t0210g0008 a0001c0001t0211g0052 a0001c0001t0212g0008	58	410	0.1415	-11	c.53- others(28): Show c.53-10988_53-10978delGGTGCTTGTAG	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38485666	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03098.hp1 others(1): Show HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0199 a0001c0004t0200 a0001c0004t0063 a0001c0004t0199 a0001c0004t0200	a0001c0004t0063g0025 a0001c0004t0199g0064 a0001c0004t0200g0060 a0001c0004t0063g0025 a0001c0004t0199g0064 a0001c0004t0200g0060	4	410	0.0098	-11	c.23 others(22): Show c.2351_*2361delTTTTTTTTTTT	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	2351	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACY1_chr3_51978535_51994197	51981894	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02486.hp2 HG02886.hp1 others(3): Show HG01361.hp1 HG02486.hp2 HG02886.hp1 HG03540.hp2 NA19240.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	6	338	0.0178	-11	c.-17 others(22): Show c.-1713_-1703delAAAAAAAAAAA	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		1640		chr3	TogoVar
ACY1_chr3_51978535_51994197	51983807	GTAAAGTG others(4): Show GTAAAGTGGGCA	G G	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	338	0.0030	-11	c.-19 others(26): Show c.-19+220_-18-228delAAAGTGGGCAT	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACYP2_chr2_53966113_54310300	53992119	CCTTTCTT others(4): Show CCTTTCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	272	0.0037	-11	c.62+ others(28): Show c.62+18322_62+18332delTTTCTTCCTTC	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54010737	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG04228.hp1 HG03490.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0137 a0001c0001t0001g0138	2	272	0.0074	-11	c.62+ others(28): Show c.62+36945_62+36955delTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54013307	GTGTGTGT others(4): Show GTGTGTGTGTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	272	0.0037	-11	c.63- others(28): Show c.63-37648_63-37638delTGTGTGTTTTG	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54102638	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp2 others(46): Show HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01074.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01517.hp2 HG02040.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03831.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18951.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA19009.hp1 NA19030.hp2 NA19065.hp1 NA19066.hp2 NA19077.hp1 NA19080.hp2 NA19090.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0002t0002 a0001c0002t0005 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0001t0001g0131 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0160 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0004g0114 a0001c0001t0004g0140 a0001c0001t0004g0161 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0205 a0001c0001t0004g0217 a0001c0001t0004g0222 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0251 a0001c0001t0004g0272 a0001c0001t0012g0264 a0001c0002t0002g0028 a0001c0002t0005g0062 a0004c0006t0001g0185	49	272	0.1802	-11	c.278 others(30): Show c.278-32789_278-32779delAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54197939	ATTATATT others(4): Show ATTATATTGTAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18962.hp1 HG02027.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0229 a0001c0002t0002g0033 a0001c0001t0001g0229 a0001c0002t0002g0033	2	272	0.0074	-11	c.404 others(30): Show c.404+59193_404+59203delTATATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201605	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0004 a0003c0004t0007g0004	1	272	0.0037	-11	c.404 others(30): Show c.404+62860_404+62870delCTTTCTTTCTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54202706	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02486.hp1 HG02965.hp1 others(2): Show HG00408.hp1 HG02486.hp1 HG02965.hp1 HG03139.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0006 a0002c0003t0002 a0001c0001t0001 a0001c0002t0006 a0002c0003t0002	a0001c0001t0001g0130 a0001c0001t0001g0209 a0001c0001t0001g0257 others(2): Show a0001c0001t0001g0130 a0001c0001t0001g0209 a0001c0001t0001g0257 a0001c0002t0006g0006 a0002c0003t0002g0007	5	272	0.0184	-11	c.404 others(30): Show c.404+63989_404+63999delTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54258320	GAGTCAGC others(4): Show GAGTCAGCTAGT	G G	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	272	0.0037	-11	c.405 others(30): Show c.405-46365_405-46355delTCAGCTAGTAG	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54274625	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01192.hp1 others(11): Show HG00423.hp2 HG00438.hp2 HG01192.hp1 HG01515.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp2 HG03239.hp2 HG03490.hp1 HG04228.hp1 NA18945.hp2 NA18967.hp1 NA18986.hp2 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0137 a0001c0002t0002g0037 a0001c0002t0002g0038 others(11): Show a0001c0001t0001g0137 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0058 a0001c0002t0002g0066 a0001c0002t0002g0088 a0002c0003t0002g0012 a0002c0003t0002g0021 a0002c0003t0002g0032 a0002c0003t0002g0090 a0002c0003t0005g0015	14	272	0.0515	-11	c.405 others(30): Show c.405-30045_405-30035delAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17178735	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0136 a0001c0010t0002g0136	1	408	0.0025	-11	c.27 others(22): Show c.2737_*2747delTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding		54		chr22	TogoVar
ADA2_chr22_17173790_17224435	17208821	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0028 a0001c0005t0002g0028	1	408	0.0025	-11	c.322 others(26): Show c.322+524_322+534delTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	2/9			chr22	TogoVar

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