JoGo: Joint Open Genome and Omics Platform

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
BEND2_chrX_18157931_18225886	18224006	CATATAT CATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01070.hp1 others(33): Show HG00280.hp1 HG00323.hp2 HG01070.hp1 HG01099.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG02055.hp1 HG02074.hp1 HG02145.hp1 HG02300.hp1 HG02683.hp1 HG02717.hp1 HG02976.hp1 HG03239.hp2 HG03492.hp1 HG03540.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18940.hp1 NA18943.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18987.hp2 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19043.hp1 NA19062.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0002c0002t0001 a0002c0002t0012 a0002c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0045 others(33): Show a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0042 a0001c0001t0002g0228 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0003g0001 a0001c0001t0006g0025 a0001c0001t0007g0117 a0001c0001t0007g0118 a0002c0002t0001g0132 a0002c0002t0001g0181 a0002c0002t0001g0204 a0002c0002t0012g0188 a0002c0003t0001g0175	36	295	0.1220	-6	c.-32 others(17): Show c.-3262_-3257delATATAT	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding		3121		chrX	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTA GTATGTA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02165.hp1 HG02258.hp2 others(1): Show HG00609.hp1 HG02165.hp1 HG02258.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0003g0016 a0001c0001t0003g0037 a0001c0001t0005g0019 others(1): Show a0001c0001t0003g0016 a0001c0001t0003g0037 a0001c0001t0005g0019 a0001c0002t0001g0251	4	368	0.0109	-6	c.241 others(23): Show c.241-2253_241-2248delTACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073201	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG01255.hp1 others(18): Show HG00642.hp2 HG00673.hp1 HG01255.hp1 HG01433.hp1 HG01433.hp2 HG02015.hp1 HG02135.hp1 HG02895.hp2 HG02965.hp1 NA18612.hp2 NA18952.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp2 NA18999.hp1 NA19065.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0059 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0059 a0001c0002t0001 a0001c0002t0006 a0001c0003t0004	a0001c0001t0003g0064 a0001c0001t0004g0239 a0001c0001t0059g0358 others(17): Show a0001c0001t0003g0064 a0001c0001t0004g0239 a0001c0001t0059g0358 a0001c0002t0001g0008 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0077 a0001c0002t0001g0085 a0001c0002t0001g0167 a0001c0002t0001g0235 a0001c0002t0001g0238 a0001c0002t0001g0261 a0001c0002t0001g0274 a0001c0002t0001g0301 a0001c0002t0001g0327 a0001c0002t0006g0002 a0001c0002t0006g0086 a0001c0002t0006g0113 a0001c0002t0006g0237 a0001c0003t0004g0192	21	368	0.0571	-6	c.241 others(23): Show c.241-2257_241-2252delTATATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073259	ATATATG ATATATG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01884.hp2 HG03453.hp1 others(1): Show HG01169.hp2 HG01884.hp2 HG03453.hp1 HG03654.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0012 a0001c0001t0015 a0001c0001t0050 others(1): Show a0001c0001t0012 a0001c0001t0015 a0001c0001t0050 a0007c0008t0004	a0001c0001t0012g0220 a0001c0001t0015g0048 a0001c0001t0050g0075 others(1): Show a0001c0001t0012g0220 a0001c0001t0015g0048 a0001c0001t0050g0075 a0007c0008t0004g0340	4	368	0.0109	-6	c.241 others(23): Show c.241-2315_241-2310delCATATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND5_chr1_48722519_48781891	48762612	TTTTGTG TTTTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00544.hp2 others(69): Show HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02280.hp1 HG02572.hp2 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp2 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19081.hp1 NA19083.hp1 NA19086.hp1 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0274 a0001c0001t0002g0288 a0001c0001t0002g0294 a0001c0002t0001g0218	72	342	0.2105	-6	c.227 others(23): Show c.227-1148_227-1143delCACAAA	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND5_chr1_48722519_48781891	48763100	AAACAAC AAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(125): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02280.hp1 HG02602.hp2 HG02698.hp2 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(102): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0285 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0002g0199 a0001c0002t0002g0242 a0001c0002t0003g0031	128	342	0.3743	-6	c.227 others(23): Show c.227-1636_227-1631delGTTGTT	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND5_chr1_48722519_48781891	48769526	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02922.hp1 others(1): Show HG02572.hp2 HG02809.hp1 HG02922.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0290 a0001c0001t0002g0288 a0001c0001t0001g0025 a0001c0001t0001g0290 a0001c0001t0002g0288	4	342	0.0117	-6	c.226 others(23): Show c.226+7074_226+7079delGTGTGT	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND6_chr6_56950107_57032346	56960992	TGTAGAA TGTAGAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp1 others(33): Show HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp2 HG01123.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01891.hp2 HG01978.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp1 NA18939.hp2 NA18954.hp2 NA18955.hp2 NA18966.hp2 NA18970.hp2 NA18981.hp1 NA18984.hp1 NA18994.hp1 NA18995.hp1 NA19004.hp1 NA19006.hp2 NA19012.hp2 NA19060.hp2 NA19080.hp2 NA19083.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0014 others(26): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0005g0003 a0001c0001t0005g0149 a0001c0001t0005g0152 a0001c0001t0007g0143	36	204	0.1765	-6	c.-10 others(25): Show c.-101+5535_-101+5540delAGAAGT	BEND6	ENSG00000151917.18	transcript	ENST00000370746.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BEND6_chr6_56950107_57032346	56965676	TTATATA TTATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp1 HG03654.hp1 HG01884.hp2 HG03195.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0138 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0001g0138 a0001c0001t0002g0066 a0001c0001t0002g0067	3	204	0.0147	-6	c.-10 others(27): Show c.-101+10238_-101+10243delATATAT	BEND6	ENSG00000151917.18	transcript	ENST00000370746.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BEND6_chr6_56950107_57032346	56973500	TAATAAC TAATAAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18943.hp1 NA18989.hp2 others(7): Show HG02132.hp1 NA18943.hp1 NA18989.hp2 NA19000.hp1 NA19009.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp2 NA19083.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0056 a0001c0001t0004g0057 others(6): Show a0001c0001t0004g0009 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063	10	204	0.0490	-6	c.-10 others(25): Show c.-100-8204_-100-8199delAATAAC	BEND6	ENSG00000151917.18	transcript	ENST00000370746.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BEND6_chr6_56950107_57032346	57003512	GCAACAA GCAACAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG03195.hp1 HG01884.hp2 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0001g0101 a0001c0001t0002g0066 a0001c0001t0002g0067	3	204	0.0147	-6	c.298 others(25): Show c.298+10982_298+10987delCAACAA	BEND6	ENSG00000151917.18	transcript	ENST00000370746.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BEND7_chr10_13436088_13534014	13498071	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(73): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01943.hp2 HG01975.hp1 HG02129.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03492.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18959.hp2 NA18967.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp2 NA18991.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19064.hp2 NA19079.hp1 NA19088.hp2 NA19091.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0003c0009 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0011 a0001c0007t0002 a0001c0011t0001 a0003c0009t0001 a0005c0012t0014	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(67): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0131 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0004g0116 a0001c0001t0005g0022 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0041 a0001c0004t0001g0081 a0001c0004t0001g0200 a0001c0004t0001g0203 a0001c0004t0001g0205 a0001c0004t0001g0209 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0227 a0001c0004t0002g0255 a0001c0004t0002g0266 a0001c0004t0011g0024 a0001c0007t0002g0242 a0001c0011t0001g0218 a0003c0009t0001g0212 a0005c0012t0014g0273	76	300	0.2533	-6	c.449 others(23): Show c.449-1189_449-1184delAAAAAA	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	3/8			chr10	TogoVar
BEND7_chr10_13436088_13534014	13517065	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02818.hp1 others(5): Show HG01891.hp1 HG02622.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 others(1): Show a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 a0002c0005t0002	a0001c0003t0002g0247 a0001c0003t0002g0249 a0001c0003t0002g0250 others(5): Show a0001c0003t0002g0247 a0001c0003t0002g0249 a0001c0003t0002g0250 a0001c0003t0007g0270 a0001c0003t0008g0248 a0002c0005t0002g0243 a0002c0005t0002g0244 a0002c0005t0002g0245	8	300	0.0267	-6	c.145 others(23): Show c.145+9067_145+9072delAAAAAA	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	2/8			chr10	TogoVar
BEND7_chr10_13436088_13534014	13528578	GGCGGCA GGCGGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00609.hp1 HG01167.hp2 HG01168.hp1 others(27): Show HG00609.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01361.hp2 HG01891.hp1 HG02129.hp2 HG02523.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG04199.hp2 NA18983.hp2 NA19002.hp2 NA19064.hp2 NA19088.hp2 NA19240.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0005	a0001c0001t0002 a0001c0003t0002 a0001c0003t0008 others(3): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0008 a0001c0004t0002 a0001c0007t0002 a0002c0005t0002	a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0246 others(27): Show a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0003t0002g0247 a0001c0003t0002g0249 a0001c0003t0002g0250 a0001c0003t0008g0248 a0001c0003t0008g0251 a0001c0004t0002g0255 a0001c0004t0002g0266 a0001c0007t0002g0242 a0002c0005t0002g0243 a0002c0005t0002g0244 a0002c0005t0002g0245	30	300	0.1000	-6	c.-51 others(13): Show c.-51_-46delTGCCGC	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	1/9	46		chr10	TogoVar
BEST1_chr11_61945351_61969461	61955084	TCCACCC TCCACCC	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01496.hp1 HG02109.hp1 HG02257.hp2 others(11): Show HG01496.hp1 HG02109.hp1 HG02257.hp2 HG02486.hp1 HG02622.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0045 others(4): Show a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0045 a0001c0002t0001g0065 a0001c0002t0001g0113 a0001c0002t0001g0128 a0001c0002t0001g0129	14	410	0.0342	-6	c.153 others(17): Show c.153-7_153-2delCCCCCA	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST1_chr11_61945351_61969461	61958901	CACACAT CACACAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp2 HG01071.hp2 others(23): Show HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01928.hp2 HG02148.hp2 HG02165.hp1 HG02622.hp1 HG02698.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 NA18953.hp1 NA18983.hp2 NA18999.hp1 NA19068.hp1 NA19075.hp2 NA19091.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0013 a0003c0015 a0004c0022	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0013t0001 a0003c0015t0001 a0004c0022t0001	a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0081 others(18): Show a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0002t0001g0128 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0168 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0004t0001g0036 a0001c0004t0001g0116 a0001c0004t0001g0118 a0001c0007t0001g0186 a0001c0013t0001g0170 a0003c0015t0001g0142 a0004c0022t0001g0173	26	410	0.0634	-6	c.868 others(21): Show c.868-591_868-586delTACACA	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST3_chr12_69648609_69704303	69682906	ATAAACT ATAAACT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(56): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG02056.hp1 HG02080.hp1 HG02132.hp2 HG02683.hp1 NA18747.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0002g0083	59	366	0.1612	-6	c.482 others(23): Show c.482-4019_482-4014delAGTTTA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69703916	CAAAAAA CAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(81): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18997.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp2 NA19070.hp2 NA19086.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0006t0006 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0002g0065 a0001c0001t0002g0083 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0005g0203 a0001c0001t0010g0314 a0001c0006t0006g0204 a0003c0003t0001g0033 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0226 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0234 a0003c0003t0001g0312	84	366	0.2295	-6	c.-47 others(17): Show c.-4733_-4728delTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		4614		chr12	TogoVar
BEST4_chr1_44778585_44793170	44789258	AGAAAAG AGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00558.hp1 others(47): Show HG00099.hp1 HG00544.hp1 HG00558.hp1 HG00673.hp1 HG00673.hp2 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01993.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02273.hp1 HG02647.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18966.hp2 NA18977.hp1 NA18978.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp1 NA19066.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0017 others(2): Show a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0017 a0002c0002t0002g0031 a0002c0002t0002g0032	50	390	0.1282	-6	c.-15 others(17): Show c.-1559_-1554delCTTTTC	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding		1089		chr1	TogoVar
BEST4_chr1_44778585_44793170	44789268	GAAAGAA GAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01358.hp1 HG02451.hp1 others(1): Show HG00735.hp1 HG01358.hp1 HG02451.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 a0001c0001t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011	4	390	0.0103	-6	c.-15 others(17): Show c.-1569_-1564delTTCTTT	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding		1099		chr1	TogoVar
BET1L_chr11_197924_212399	204523	CATTTCT CATTTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(41): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG02040.hp2 HG02080.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02683.hp2 HG02698.hp2 HG02922.hp1 HG03041.hp2 HG03471.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 NA18747.hp2 NA18945.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18971.hp1 NA18979.hp1 NA19011.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19075.hp2 NA19080.hp1 NA19090.hp1 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0014 a0001c0003t0004 a0001c0001t0004 a0001c0001t0014 a0001c0003t0004	a0001c0001t0004g0004 a0001c0001t0014g0018 a0001c0003t0004g0059 a0001c0001t0004g0004 a0001c0001t0014g0018 a0001c0003t0004g0059	44	402	0.1095	-6	c.77 others(15): Show c.773_*778delAGAAAT	BET1L	ENSG00000177951.18	transcript	ENST00000382762.8	protein_coding	4/4	773		chr11	TogoVar
BET1L_chr11_197924_212399	205757	AACTCTG AACTCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp2 others(111): Show HG00099.hp1 HG00323.hp2 HG00423.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18978.hp1 NA18990.hp2 NA18992.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19070.hp1 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0025 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0007g0006 a0001c0001t0008g0010 a0001c0001t0010g0012 a0001c0001t0013g0017 a0001c0001t0017g0021 a0001c0001t0018g0024 a0001c0001t0021g0028 a0001c0001t0023g0029 a0001c0001t0024g0030 a0001c0001t0025g0046 a0001c0001t0030g0031 a0001c0001t0041g0058 a0001c0001t0042g0053 a0001c0001t0044g0056 a0002c0002t0001g0057	114	402	0.2836	-6	c.112 others(19): Show c.112-96_112-91delCAGAGT	BET1L	ENSG00000177951.18	transcript	ENST00000382762.8	protein_coding	2/3			chr11	TogoVar
BEX1_chrX_103057651_103069171	103059581	CTTTACA CTTTACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	339	0.0030	-6	c.33 others(17): Show c.3310_*3315delTGTAAA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		3069		chrX	TogoVar
BEX1_chrX_103057651_103069171	103059972	ATCTCTC ATCTCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02293.hp2 HG02647.hp1 others(1): Show HG02055.hp1 HG02293.hp2 HG02647.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0023 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0002g0019	4	339	0.0118	-6	c.29 others(17): Show c.2919_*2924delGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2678		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060014	CTCTATA CTCTATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18944.hp1 NA19089.hp1 NA18939.hp2 NA18944.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0002g0004 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0002g0004	3	339	0.0089	-6	c.28 others(17): Show c.2877_*2882delTATAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2636		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060016	CTATATA CTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02083.hp1 HG02300.hp1 others(6): Show HG01175.hp2 HG02083.hp1 HG02300.hp1 HG02723.hp2 HG02965.hp1 NA18951.hp2 NA18953.hp1 NA19084.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013	9	339	0.0266	-6	c.28 others(17): Show c.2875_*2880delTATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2634		chrX	TogoVar
BEX1_chrX_103057651_103069171	103061969	CTTTTTT CTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp2 others(33): Show HG00438.hp1 HG00558.hp1 HG00597.hp2 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01975.hp1 HG02080.hp2 HG02083.hp1 HG02155.hp1 HG02293.hp2 HG02300.hp1 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18974.hp1 NA18975.hp1 NA18981.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA19002.hp2 NA19003.hp2 NA19012.hp1 NA19054.hp1 NA19058.hp1 NA19064.hp1 NA19074.hp1 NA19075.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0020 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030	36	339	0.1062	-6	c.92 others(15): Show c.922_*927delAAAAAA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		681		chrX	TogoVar
BEX1_chrX_103057651_103069171	103062480	TTAAAAA TTAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	339	0.0030	-6	c.41 others(15): Show c.411_*416delTTTTTA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		170		chrX	TogoVar
BEX1_chrX_103057651_103069171	103065765	CTCTTCT CTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(51): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01934.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG03041.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18940.hp1 NA18942.hp2 NA18949.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18968.hp1 NA18969.hp2 NA18979.hp1 NA18980.hp2 NA18988.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19011.hp2 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19077.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0007 a0001c0001t0004g0043	54	339	0.1593	-6	c.-17 others(17): Show c.-1771_-1766delAGAAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1595		chrX	TogoVar
BEX1_chrX_103057651_103069171	103066003	ATGTGTG ATGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01257.hp2 HG01258.hp1 others(12): Show HG00423.hp1 HG01257.hp2 HG01258.hp1 HG01891.hp1 HG01934.hp1 HG02132.hp1 HG02451.hp2 HG02717.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0032	15	339	0.0443	-6	c.-20 others(17): Show c.-2009_-2004delCACACA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1833		chrX	TogoVar
BEX2_chrX_103304346_103315990	103309250	GTGTATA GTGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00673.hp1 others(39): Show HG00323.hp1 HG00323.hp2 HG00673.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01952.hp1 HG02148.hp2 HG02451.hp1 HG02818.hp1 HG02965.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG03704.hp2 HG04184.hp1 NA18612.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18961.hp1 NA18976.hp2 NA18978.hp1 NA18986.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp1 NA19057.hp2 NA19065.hp2 NA19070.hp1 NA19080.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0002g0004 a0001c0001t0003g0005 a0001c0002t0001g0003 a0002c0003t0001g0006	42	308	0.1364	-6	c.33 others(15): Show c.334_*339delTATACA	BEX2	ENSG00000133134.12	transcript	ENST00000372677.8	protein_coding		95		chrX	TogoVar
BEX2_chrX_103304346_103315990	103309252	GTATATA GTATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG01175.hp1 others(12): Show HG00558.hp1 HG00735.hp1 HG01175.hp1 HG01975.hp1 HG02056.hp1 HG03540.hp1 NA18941.hp1 NA18943.hp1 NA18973.hp2 NA18978.hp2 NA19000.hp1 NA19010.hp2 NA19056.hp1 NA19074.hp1 NA19076.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0004c0007t0001 a0001c0001t0001 a0001c0001t0004 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0004g0007 a0004c0007t0001g0017 a0001c0001t0001g0001 a0001c0001t0004g0007 a0004c0007t0001g0017	15	308	0.0487	-6	c.33 others(15): Show c.332_*337delTATATA	BEX2	ENSG00000133134.12	transcript	ENST00000372677.8	protein_coding		93		chrX	TogoVar
BEX2_chrX_103304346_103315990	103315765	AGTAAAT AGTAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	308	0.0033	-6	c.-49 others(17): Show c.-4993_-4988delATTTAC	BEX2	ENSG00000133134.12	transcript	ENST00000372677.8	protein_coding		4776		chrX	TogoVar
BEX3_chrX_103371538_103383164	103375602	CTTTTTT CTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	298	0.0034	-6	c.-11 others(17): Show c.-1102_-1097delTTTTTT	BEX3	ENSG00000166681.14	transcript	ENST00000361298.9	protein_coding		935		chrX	TogoVar
BEX4_chrX_103210108_103222246	103212998	CGTGTGT CGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01891.hp1 others(6): Show HG01081.hp2 HG01106.hp1 HG01891.hp1 HG02280.hp1 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG03225.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0003 a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0003	9	334	0.0270	-6	c.-23 others(17): Show c.-2328_-2323delGTGTGT	BEX4	ENSG00000102409.10	transcript	ENST00000372695.6	protein_coding		2109		chrX	TogoVar
BEX4_chrX_103210108_103222246	103215564	GAGGGCC GAGGGCC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01261.hp1 HG01496.hp1 others(30): Show HG00597.hp2 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01975.hp1 HG02027.hp1 HG02080.hp1 HG02083.hp1 HG02293.hp2 HG02300.hp1 NA18951.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18967.hp1 NA18974.hp1 NA18975.hp1 NA18982.hp1 NA18992.hp2 NA18993.hp2 NA19002.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp1 NA19059.hp2 NA19064.hp1 NA19074.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0008g0005	33	334	0.0988	-6	c.-88 others(19): Show c.-88-93_-88-88delAGGGCC	BEX4	ENSG00000102409.10	transcript	ENST00000372695.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
BEX5_chrX_102148712_102160977	102153606	CATATAT CATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG03453.hp1 others(1): Show HG02886.hp1 HG02922.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	4	324	0.0124	-6	c.31 others(15): Show c.318_*323delATATAT	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		105		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158102	TTTCTTC TTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	324	0.0031	-6	c.-23 others(17): Show c.-2354_-2349delGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2126		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158150	CTTCTTA CTTCTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02723.hp2 HG03704.hp2 others(1): Show HG00639.hp2 HG02723.hp2 HG03704.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0006 a0001c0001t0001g0002 a0001c0001t0003g0006	4	324	0.0124	-6	c.-24 others(17): Show c.-2402_-2397delTAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2174		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158153	CTTATTA CTTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01192.hp1 others(6): Show HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01978.hp1 HG02738.hp1 HG04115.hp1 HG06807.hp1 NA18956.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0004 a0001c0001t0003g0006	9	324	0.0278	-6	c.-24 others(17): Show c.-2405_-2400delTAATAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2177		chrX	TogoVar
BFAR_chr16_14627951_14674236	14654493	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00609.hp1 others(63): Show HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01975.hp2 HG01981.hp1 HG02056.hp2 HG02071.hp2 HG02135.hp1 HG02165.hp2 HG02523.hp1 HG02738.hp1 HG03017.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18990.hp1 NA18997.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19081.hp1 NA19084.hp1 NA19089.hp2 NA19091.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0009 a0004c0005 a0002c0002 a0002c0009 a0004c0005	a0002c0002t0001 a0002c0002t0007 a0002c0009t0001 others(1): Show a0002c0002t0001 a0002c0002t0007 a0002c0009t0001 a0004c0005t0001	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 others(47): Show a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0015 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0039 a0002c0002t0001g0046 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0233 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0007g0007 a0002c0002t0007g0069 a0002c0009t0001g0007 a0004c0005t0001g0001 a0004c0005t0001g0073	66	317	0.2082	-6	c.639 others(21): Show c.639-553_639-548delTTTTTT	BFAR	ENSG00000103429.11	transcript	ENST00000261658.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
BFSP1_chr20_17488905_17536379	17497588	ATATACG ATATACG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01975.hp2 HG02055.hp2 others(8): Show HG01891.hp1 HG01975.hp2 HG02055.hp2 HG02559.hp1 HG02886.hp2 HG02896.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0011	a0001c0003 a0003c0007 a0008c0020 others(1): Show a0001c0003 a0003c0007 a0008c0020 a0011c0019	a0001c0003t0001 a0003c0007t0002 a0008c0020t0002 others(1): Show a0001c0003t0001 a0003c0007t0002 a0008c0020t0002 a0011c0019t0002	a0001c0003t0001g0119 a0001c0003t0001g0145 a0001c0003t0001g0255 others(7): Show a0001c0003t0001g0119 a0001c0003t0001g0145 a0001c0003t0001g0255 a0003c0007t0002g0013 a0003c0007t0002g0072 a0003c0007t0002g0112 a0003c0007t0002g0311 a0003c0007t0002g0314 a0008c0020t0002g0024 a0011c0019t0002g0018	11	396	0.0278	-6	c.957 others(21): Show c.957-571_957-566delCGTATA	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	6/7			chr20	TogoVar
BFSP1_chr20_17488905_17536379	17507268	GGTAGGT GGTAGGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG02970.hp2 others(1): Show HG02723.hp1 HG02818.hp1 HG02970.hp2 NA19043.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0010 a0002c0001 a0004c0010	a0002c0001t0002 a0004c0010t0001 a0002c0001t0002 a0004c0010t0001	a0002c0001t0002g0062 a0002c0001t0002g0303 a0002c0001t0002g0304 others(1): Show a0002c0001t0002g0062 a0002c0001t0002g0303 a0002c0001t0002g0304 a0004c0010t0001g0305	4	396	0.0101	-6	c.735 others(23): Show c.735+1615_735+1620delACCTAC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	5/7			chr20	TogoVar
BFSP1_chr20_17488905_17536379	17518266	AGAATAT AGAATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp1 HG02976.hp2 others(2): Show HG02145.hp1 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0003t0001 a0001c0005t0004 a0001c0002t0001 a0001c0003t0001 a0001c0005t0004	a0001c0002t0001g0067 a0001c0003t0001g0117 a0001c0005t0004g0002 a0001c0002t0001g0067 a0001c0003t0001g0117 a0001c0005t0004g0002	5	396	0.0126	-6	c.439 others(23): Show c.439-3456_439-3451delATATTC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	2/7			chr20	TogoVar
BFSP2_chr3_133395056_133480208	133425762	GATGGGA GATGGGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG02055.hp1 others(13): Show HG00738.hp1 HG01243.hp1 HG02055.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp2 HG03471.hp1 HG04204.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0069 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0002t0001g0053 a0001c0002t0001g0153 a0001c0002t0001g0166	16	276	0.0580	-6	c.490 others(25): Show c.490-21553_490-21548delTGGGAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATA TTATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01123.hp2 HG01943.hp2 others(10): Show HG00099.hp2 HG01123.hp2 HG01943.hp2 HG02886.hp2 HG03225.hp1 NA18522.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18993.hp1 NA19030.hp2 NA19065.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0068 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0212 a0001c0001t0001g0231 a0001c0001t0001g0263 a0001c0002t0001g0016 a0001c0002t0001g0243	13	276	0.0471	-6	c.490 others(21): Show c.490-682_490-677delTATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449949	AAGAGAG AAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp2 HG01258.hp2 others(20): Show HG01175.hp2 HG01257.hp2 HG01258.hp2 HG02015.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02258.hp2 HG02280.hp2 HG02809.hp2 HG02965.hp2 HG03041.hp1 HG03225.hp1 HG03516.hp1 NA18950.hp1 NA18956.hp1 NA18962.hp1 NA18964.hp1 NA18990.hp1 NA18999.hp2 NA19030.hp2 NA19064.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0026 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0143 a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0228 a0001c0001t0001g0241 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0267 a0002c0003t0001g0115	23	276	0.0833	-6	c.730 others(21): Show c.730-348_730-343delGAGAGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BGN_chrX_153489980_153514546	153509028	CCTCTCT CCTCTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02258.hp1 HG00544.hp2 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0070 a0001c0003t0032 a0001c0002t0070 a0001c0003t0032	a0001c0002t0070g0118 a0001c0003t0032g0194 a0001c0002t0070g0118 a0001c0003t0032g0194	2	321	0.0062	-6	c.60 others(15): Show c.608_*613delCTCTCT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8	608	INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153509057	CTTTCTG CTTTCTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG03453.hp1 NA21309.hp1 HG02809.hp1 HG03453.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0048 a0001c0003t0022 a0001c0003t0048	a0001c0003t0022g0023 a0001c0003t0048g0067 a0001c0003t0022g0023 a0001c0003t0048g0067	3	321	0.0094	-6	c.61 others(15): Show c.614_*619delTTCTGT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8	614	INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153509061	CTGTGTG CTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01106.hp1 others(13): Show HG00733.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01346.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG03098.hp1 HG03225.hp1 NA19074.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0006 a0001c0002t0006 a0001c0003t0029 others(2): Show a0001c0001t0006 a0001c0002t0006 a0001c0003t0029 a0001c0003t0078 a0001c0005t0006	a0001c0001t0006g0006 a0001c0001t0006g0020 a0001c0001t0006g0030 others(11): Show a0001c0001t0006g0006 a0001c0001t0006g0020 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0109 a0001c0001t0006g0151 a0001c0002t0006g0102 a0001c0003t0029g0063 a0001c0003t0029g0064 a0001c0003t0078g0082 a0001c0005t0006g0046	16	321	0.0498	-6	c.65 others(15): Show c.656_*661delGTGTGT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8	656	INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)