Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACTL9_chr19_8692400_8703795	8695238	AAAACAAA others(5): Show AAAACAAACAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG01071.hp1 others(65): Show HG00140.hp1 HG00438.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01361.hp2 HG01496.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02109.hp2 HG02257.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03831.hp1 HG03831.hp2 NA18522.hp2 NA18944.hp1 NA18950.hp1 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18992.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp2 NA19082.hp1 NA19084.hp1 NA19090.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0011 a0003c0003 a0002c0002 a0002c0011 a0003c0003	a0002c0002t0001 a0002c0002t0003 a0002c0011t0001 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0011t0001 a0003c0003t0001	a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0011t0001g0000 others(1): Show a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0011t0001g0000 a0003c0003t0001g0000	68	356	0.1910	-12	c.22 others(23): Show c.2201_*2212delGTTTGTTTGTTT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2161		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68873157	TTAGCCAA others(5): Show TTAGCCAAATGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG01192.hp2 others(8): Show HG01074.hp2 HG01175.hp2 HG01192.hp2 HG02280.hp2 HG02602.hp1 HG02683.hp2 HG02886.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0151 a0001c0001t0001g0185 a0001c0001t0001g0228 others(8): Show a0001c0001t0001g0151 a0001c0001t0001g0185 a0001c0001t0001g0228 a0001c0001t0001g0241 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0011 a0001c0001t0002g0106 a0001c0002t0002g0088 a0001c0002t0002g0122 a0001c0002t0008g0149	11	284	0.0387	-12	c.16 others(23): Show c.1690_*1701delGTCATTTGGCTA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding		970		chr14	TogoVar
ACTN2_chr1_236681499_236769631	236689300	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp2 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0005 a0001c0003t0002 a0001c0004t0005	a0001c0003t0002g0170 a0001c0004t0005g0056 a0001c0003t0002g0170 a0001c0004t0005g0056	2	344	0.0058	-12	c.126 others(29): Show c.126+2529_126+2540delTATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236693177	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG04115.hp1 NA19011.hp1 HG00438.hp1 HG04115.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0003g0343 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0003g0343	3	344	0.0087	-12	c.126 others(29): Show c.126+6405_126+6416delCACACACACACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236707659	CTTTTCTT others(5): Show CTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(102): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03490.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18960.hp2 NA18963.hp2 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19077.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0007 others(8): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0001c0021 a0001c0025 a0001c0027 a0001c0030 a0002c0005 a0002c0008 a0007c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0001c0007t0015 a0001c0010t0002 a0001c0021t0001 a0001c0025t0006 a0001c0027t0001 a0001c0030t0002 a0002c0005t0004 a0002c0008t0004 a0007c0023t0001	a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0114 others(102): Show a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0114 a0001c0001t0001g0159 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0003g0143 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0207 a0001c0001t0003g0249 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0272 a0001c0001t0003g0279 a0001c0001t0003g0284 a0001c0001t0003g0299 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0343 a0001c0001t0004g0102 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0009g0118 a0001c0001t0017g0097 a0001c0001t0019g0250 a0001c0001t0019g0252 a0001c0001t0025g0010 a0001c0002t0002g0255 a0001c0002t0002g0263 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0278 a0001c0002t0002g0283 a0001c0002t0002g0302 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0007g0298 a0001c0002t0007g0300 a0001c0002t0007g0326 a0001c0002t0013g0239 a0001c0002t0013g0325 a0001c0007t0015g0096 a0001c0010t0002g0160 a0001c0021t0001g0254 a0001c0025t0006g0121 a0001c0027t0001g0311 a0001c0030t0002g0267 a0002c0005t0004g0256 a0002c0005t0004g0257 a0002c0005t0004g0294 a0002c0005t0004g0297 a0002c0005t0004g0305 a0002c0005t0004g0306 a0002c0008t0004g0277 a0002c0008t0004g0296 a0007c0023t0001g0332	105	344	0.3052	-12	c.127 others(31): Show c.127-10185_127-10174delTTTCTTTTCTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709220	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18939.hp2 NA18943.hp2 others(3): Show HG02083.hp1 NA18939.hp2 NA18943.hp2 NA18967.hp1 NA19063.hp2 NA19091.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0024 a0002c0008 others(1): Show a0001c0001 a0001c0024 a0002c0008 a0005c0033	a0001c0001t0003 a0001c0001t0004 a0001c0024t0003 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0024t0003 a0002c0008t0004 a0005c0033t0003	a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0004g0028 others(3): Show a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0004g0028 a0001c0024t0003g0014 a0002c0008t0004g0168 a0005c0033t0003g0169	6	344	0.0174	-12	c.127 others(29): Show c.127-8613_127-8602delTATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709278	ATGTATAT others(5): Show ATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	344	0.0029	-12	c.127 others(29): Show c.127-8578_127-8567delGTATATATATGT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236721015	GTTTTTTG others(5): Show GTTTTTTGTTTTT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	344	0.0029	-12	c.448 others(27): Show c.448+831_448+842delGTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN3_chr11_66541903_66568334	66552870	TCTCTCTC others(5): Show TCTCTCTCTCTCA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0059 a0003c0004t0001g0059	1	400	0.0025	-12	c.383 others(29): Show c.383-1173_383-1162delTCTCTCTCTCAC	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66552872	TCTCTCTC others(5): Show TCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02615.hp1 others(2): Show HG01243.hp2 HG01884.hp1 HG02615.hp1 HG02647.hp2 HG03225.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0001 a0001c0001t0001 a0007c0009t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0186 others(2): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0186 a0007c0009t0001g0183 a0007c0009t0001g0184	5	400	0.0125	-12	c.383 others(29): Show c.383-1171_383-1160delTCTCTCTCACAC	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66552874	TCTCTCTC others(5): Show TCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03098.hp2 HG01109.hp1 HG03098.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0082 a0009c0012t0001g0099 a0009c0012t0001g0082 a0009c0012t0001g0099	2	400	0.0050	-12	c.383 others(29): Show c.383-1169_383-1158delTCTCTCACACAC	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66552878	TCTCACAC others(5): Show TCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	400	0.0025	-12	c.383 others(29): Show c.383-1165_383-1154delTCACACACACAC	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTN4_chr19_38642649_38736589	38673743	ATTTATAT others(5): Show ATTTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG02630.hp2 others(3): Show HG00438.hp2 HG00597.hp2 HG02630.hp2 HG02809.hp2 NA18941.hp2 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0042 a0001c0002t0001 a0001c0002t0042	a0001c0002t0001g0008 a0001c0002t0001g0056 a0001c0002t0001g0057 others(3): Show a0001c0002t0001g0008 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0289 a0001c0002t0042g0290	6	314	0.0191	-12	c.162 others(31): Show c.162+25848_162+25859delTTTTATATATAT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38680212	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03491.hp2 HG02896.hp1 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0005 a0001c0007t0001 a0001c0004t0005 a0001c0007t0001	a0001c0004t0005g0233 a0001c0007t0001g0204 a0001c0004t0005g0233 a0001c0007t0001g0204	2	314	0.0064	-12	c.163 others(31): Show c.163-20366_163-20355delTTTTTTTTTTTT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTR1A_chr10_102474229_102507712	102497171	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	388	0.0026	-12	c.48+ others(27): Show c.48+5417_48+5428delTTTTTTTTTTTT	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	1/10			chr10	TogoVar
ACTR1B_chr2_97650939_97669044	97665692	ACTCTCTC others(5): Show ACTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA19083.hp1 HG02258.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	398	0.0050	-12	c.-18 others(23): Show c.-1814_-1803delAGAGAGAGAGAG	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1649		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665727	CTCTCTCT others(5): Show CTCTCTCTCTCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	-12	c.-18 others(23): Show c.-1849_-1838delTAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1684		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665729	CTCTCTCT others(5): Show CTCTCTCTCTATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-12	c.-18 others(23): Show c.-1851_-1840delTATAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1686		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665731	CTCTCTCT others(5): Show CTCTCTCTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 NA19060.hp2 NA19070.hp2 others(1): Show HG02683.hp2 NA19060.hp2 NA19070.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0015 a0002c0003t0003g0005 a0001c0001t0001g0001 a0001c0001t0001g0015 a0002c0003t0003g0005	4	398	0.0101	-12	c.-18 others(23): Show c.-1853_-1842delTATATAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1688		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665735	CTCTATAT others(5): Show CTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	-12	c.-18 others(23): Show c.-1857_-1846delTATATATATAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1692		chr2	TogoVar
ACTR2_chr2_65222831_65276253	65267862	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0257 a0001c0001t0006g0257	1	326	0.0031	-12	c.101 others(29): Show c.1015-685_1015-674delTTTTTTTTTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152778943	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG01070.hp2 others(31): Show HG00438.hp1 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01168.hp2 HG01255.hp2 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02074.hp2 HG02280.hp1 HG02300.hp1 HG02717.hp1 HG03927.hp2 HG04115.hp1 NA18906.hp2 NA18940.hp2 NA18949.hp1 NA18949.hp2 NA18956.hp2 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18999.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19067.hp1 NA19077.hp1 NA19079.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0005t0001	a0001c0001t0001g0182 a0001c0001t0002g0010 a0001c0001t0002g0017 others(31): Show a0001c0001t0001g0182 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0007g0041 a0001c0001t0007g0059 a0001c0005t0001g0301	34	310	0.1097	-12	c.45- others(27): Show c.45-4213_45-4202delAAAAAAAAAAAA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150297851	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	294	0.0034	-12	c.-51 others(29): Show c.-51-2516_-51-2505delTTTTTTTTTTTT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	1/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150299464	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	294	0.0034	-12	c.-51 others(29): Show c.-51-4129_-51-4118delTTTTTTTTTTTT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	1/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150299483	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG03195.hp1 HG02145.hp2 HG02257.hp2 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0002g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0002g0112	3	294	0.0102	-12	c.-51 others(29): Show c.-51-4148_-51-4137delGTTTTTTTTTTT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	1/7			chr7	TogoVar
ACTR3_chr2_113885089_113967596	113963002	GGAAAAGT others(5): Show GGAAAAGTGACTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0198 a0001c0001t0010g0198	1	390	0.0026	-12	c.55 others(23): Show c.5548_*5559delGAAAAGTGACTT	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding		407		chr2	TogoVar
ACTR3_chr2_113885089_113967596	113966630	GGCTATCC others(5): Show GGCTATCCTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(57): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG01243.hp2 HG01358.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02523.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG03225.hp1 HG03516.hp2 HG03704.hp2 HG03831.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18968.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18989.hp1 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA19009.hp2 NA19030.hp2 NA19058.hp1 NA19065.hp1 NA19068.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 others(3): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0036	a0001c0001t0004g0001 a0001c0001t0004g0017 a0001c0001t0004g0040 others(51): Show a0001c0001t0004g0001 a0001c0001t0004g0017 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0129 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0201 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0009g0008 a0001c0001t0009g0059 a0001c0001t0009g0060 a0001c0001t0009g0111 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0009g0132 a0001c0001t0009g0160 a0001c0001t0016g0139 a0001c0001t0016g0150 a0001c0001t0016g0151 a0001c0001t0016g0156 a0001c0001t0020g0135 a0001c0001t0020g0149 a0001c0001t0022g0043 a0001c0001t0036g0038	60	390	0.1539	-12	c.91 others(23): Show c.9176_*9187delGCTATCCTGTGT	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding		4035		chr2	TogoVar
ACTR6_chr12_100195815_100229424	100198756	TACACACA others(5): Show TACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	242	0.0041	-12	c.-20 others(23): Show c.-2095_-2084delACACACACACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		2058		chr12	TogoVar
ACTR6_chr12_100195815_100229424	100228606	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG01516.hp1 others(2): Show HG00280.hp2 HG01099.hp1 HG01516.hp1 HG01516.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0093	5	242	0.0207	-12	c.46 others(23): Show c.4692_*4703delAAAAAAAAAAAA	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		4183		chr12	TogoVar
ACTR6_chr12_100195815_100229424	100228629	AAAAAAAG others(5): Show AAAAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	242	0.0041	-12	c.47 others(23): Show c.4715_*4726delAAAAAAGAAAAG	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		4206		chr12	TogoVar
ACTRT2_chr1_3016467_3027903	3025160	GTGGTGTT others(5): Show GTGGTGTTTTCAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(56): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02083.hp2 HG02129.hp2 HG02273.hp2 HG02486.hp1 HG02523.hp2 HG03239.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18964.hp1 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18991.hp2 NA18995.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19085.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005	a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000	59	366	0.1612	-12	c.23 others(23): Show c.2341_*2352delTGGTGTTTTCAT	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		2258		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3026095	ATGATGAT others(5): Show ATGATGATGGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(207): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0007 a0003c0003 others(3): Show a0001c0001 a0001c0007 a0003c0003 a0003c0013 a0006c0009 a0007c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0007t0001 a0003c0003t0001 a0003c0013t0001 a0006c0009t0001 a0007c0010t0001	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 others(6): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0007t0001g0000 a0003c0003t0001g0000 a0003c0013t0001g0000 a0006c0009t0001g0000 a0007c0010t0001g0000	210	366	0.5738	-12	c.32 others(23): Show c.3276_*3287delTGATGATGGTGG	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		3193		chr1	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02109.hp1 HG03209.hp1 HG00323.hp1 HG02109.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0022 a0001c0001t0007 a0001c0001t0022	a0001c0001t0007g0123 a0001c0001t0007g0128 a0001c0001t0022g0273 a0001c0001t0007g0123 a0001c0001t0007g0128 a0001c0001t0022g0273	3	324	0.0093	-12	c.139 others(29): Show c.1393-192_1393-181delAAAAAAAAAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157599314	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03453.hp2 HG02738.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0005 a0001c0002t0001 a0002c0003t0005	a0001c0002t0001g0073 a0002c0003t0005g0079 a0001c0002t0001g0073 a0002c0003t0005g0079	2	216	0.0093	-12	c.74- others(29): Show c.74-11909_74-11898delTTTTTTTTTTTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157795377	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(14): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG01168.hp1 HG01169.hp1 HG01884.hp2 HG02145.hp1 HG02165.hp1 HG02717.hp2 HG02897.hp1 HG02970.hp2 HG03491.hp2 HG03579.hp2 NA18960.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0015 a0001c0005t0001 a0001c0005t0005	a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0002g0060 others(14): Show a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0129 a0001c0001t0012g0011 a0001c0002t0001g0032 a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0130 a0001c0002t0003g0156 a0001c0002t0005g0002 a0001c0002t0015g0096 a0001c0005t0001g0064 a0001c0005t0005g0004	17	174	0.0977	-12	c.67+ others(27): Show c.67+4038_67+4049delGTGTGTGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855269	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18965.hp2 NA18978.hp1 others(1): Show HG03704.hp1 NA18965.hp2 NA18978.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0086 a0001c0001t0002g0097 a0001c0001t0002g0154 others(1): Show a0001c0001t0002g0086 a0001c0001t0002g0097 a0001c0001t0002g0154 a0001c0002t0001g0124	4	174	0.0230	-12	c.-18 others(33): Show c.-183+20515_-183+20526delACACACACACAC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855298	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG01884.hp2 others(5): Show HG01243.hp2 HG01255.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02965.hp2 HG02970.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0018 a0001c0003t0004	a0001c0001t0001g0056 a0001c0001t0002g0051 a0001c0002t0001g0134 others(5): Show a0001c0001t0001g0056 a0001c0001t0002g0051 a0001c0002t0001g0134 a0001c0002t0001g0142 a0001c0002t0004g0173 a0001c0002t0005g0002 a0001c0002t0018g0148 a0001c0003t0004g0168	8	174	0.0460	-12	c.-18 others(33): Show c.-183+20486_-183+20497delTACACACACACA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157863011	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0083 a0001c0004t0009g0083	1	174	0.0058	-12	c.-18 others(33): Show c.-183+12773_-183+12784delAAAAAAAAAAAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147881601	TAGTGTGT others(5): Show TAGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18986.hp1 HG03471.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0202 a0001c0002t0001g0114 a0001c0001t0002g0202 a0001c0002t0001g0114	2	338	0.0059	-12	c.56- others(29): Show c.56-14699_56-14688delAGTGTGTGTGTG	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147881602	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01358.hp2 NA19043.hp2 HG00639.hp2 HG01358.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0007g0296 a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0007g0296	3	338	0.0089	-12	c.56- others(29): Show c.56-14670_56-14659delGTGTGTGTGTGT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147881631	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG00738.hp2 others(29): Show HG00423.hp1 HG00738.hp1 HG00738.hp2 HG01123.hp2 HG01175.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02083.hp2 HG02129.hp2 HG02293.hp1 HG02300.hp2 HG02683.hp1 HG06807.hp2 NA18944.hp2 NA18969.hp2 NA18971.hp2 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA19002.hp2 NA19006.hp1 NA19082.hp2 NA19087.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0003c0007t0001	a0001c0001t0002g0203 a0001c0001t0002g0215 a0001c0001t0002g0271 others(29): Show a0001c0001t0002g0203 a0001c0001t0002g0215 a0001c0001t0002g0271 a0001c0001t0005g0115 a0001c0001t0005g0237 a0001c0001t0006g0094 a0001c0001t0009g0156 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0080 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0122 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0192 a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0006g0099 a0001c0002t0010g0048 a0001c0002t0010g0100 a0003c0007t0001g0088	32	338	0.0947	-12	c.56- others(29): Show c.56-14658_56-14647delATGTGTGTGTGT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147918724	TTTTAAAA others(5): Show TTTTAAAATTAGC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	338	0.0030	-12	c.962 others(27): Show c.962+136_962+147delAAAATTAGCTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38451620	TCAAAAAC others(5): Show TCAAAAACAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03834.hp2 NA18963.hp1 others(2): Show HG03017.hp2 HG03834.hp2 NA18963.hp1 NA19054.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0204 a0001c0002t0004 a0001c0001t0007 a0001c0001t0204 a0001c0002t0004	a0001c0001t0007g0100 a0001c0001t0204g0010 a0001c0002t0004g0001 a0001c0001t0007g0100 a0001c0001t0204g0010 a0001c0002t0004g0001	5	410	0.0122	-12	c.-27 others(23): Show c.-2702_-2691delCAAAAACAAAAA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding		2269		chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38451809	AGATGCCT others(5): Show AGATGCCTGATAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01070.hp2 others(40): Show HG00621.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG03041.hp1 HG03453.hp1 HG03516.hp1 HG03704.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18974.hp1 NA18986.hp1 NA18995.hp2 NA19007.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19075.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0032 a0001c0001t0033 others(26): Show a0001c0001t0006 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0171 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0180 a0001c0001t0182 a0001c0001t0183 a0001c0001t0184 a0001c0001t0185 a0001c0001t0186 a0001c0001t0187 a0001c0001t0188 a0001c0001t0189 a0001c0003t0061 a0001c0003t0198	a0001c0001t0006g0002 a0001c0001t0006g0033 a0001c0001t0032g0002 others(31): Show a0001c0001t0006g0002 a0001c0001t0006g0033 a0001c0001t0032g0002 a0001c0001t0032g0126 a0001c0001t0033g0002 a0001c0001t0034g0002 a0001c0001t0034g0128 a0001c0001t0058g0011 a0001c0001t0058g0125 a0001c0001t0059g0002 a0001c0001t0060g0002 a0001c0001t0060g0121 a0001c0001t0069g0131 a0001c0001t0071g0017 a0001c0001t0072g0017 a0001c0001t0073g0017 a0001c0001t0074g0061 a0001c0001t0171g0122 a0001c0001t0174g0011 a0001c0001t0175g0011 a0001c0001t0176g0011 a0001c0001t0177g0011 a0001c0001t0178g0002 a0001c0001t0180g0002 a0001c0001t0182g0127 a0001c0001t0183g0130 a0001c0001t0184g0002 a0001c0001t0185g0002 a0001c0001t0186g0033 a0001c0001t0187g0129 a0001c0001t0188g0002 a0001c0001t0189g0002 a0001c0003t0061g0123 a0001c0003t0198g0124	43	410	0.1049	-12	c.-25 others(23): Show c.-2513_-2502delGATGCCTGATAG	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding		2080		chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38485666	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp1 NA18973.hp1 NA19080.hp2 NA18966.hp1 NA18973.hp1 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0003 a0001c0003t0019g0003	3	410	0.0073	-12	c.23 others(23): Show c.2350_*2361delTTTTTTTTTTTT	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	2350	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	TACACACA others(5): Show TACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0027 a0001c0001t0143g0027	1	410	0.0024	-12	c.94 others(23): Show c.9461_*9472delCACACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9461	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492793	CACACACA others(5): Show CACACACACACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp1 HG03669.hp2 NA18965.hp2 others(1): Show HG02132.hp1 HG03669.hp2 NA18965.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0212 a0001c0001t0027 a0001c0001t0212	a0001c0001t0027g0008 a0001c0001t0027g0070 a0001c0001t0027g0101 others(1): Show a0001c0001t0027g0008 a0001c0001t0027g0070 a0001c0001t0027g0101 a0001c0001t0212g0008	4	410	0.0098	-12	c.94 others(23): Show c.9466_*9477delACACACATACAC	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9466	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVRL1_chr12_51902504_51928361	51914748	TTAATTTA others(5): Show TTAATTTAATTTA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	438	0.0023	-12	c.772 others(27): Show c.772+164_772+175delTAATTTAATTTA	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	6/9			chr12	TogoVar
ACY1_chr3_51978535_51994197	51981894	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02004.hp1 HG02630.hp2 others(7): Show HG00609.hp2 HG02004.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG03486.hp2 HG03516.hp2 NA18906.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	10	338	0.0296	-12	c.-17 others(23): Show c.-1713_-1702delAAAAAAAAAAAA	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		1640		chr3	TogoVar
ACY1_chr3_51978535_51994197	51992521	CCCACATG others(5): Show CCCACATGGACTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG01934.hp2 others(22): Show HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0002c0002t0001g0013	25	338	0.0740	-12	c.34 others(23): Show c.3447_*3458delCCACATGGACTG	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		3325		chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)