Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	364	0.0028	20	c.196 others(37): Show c.196-5893_196-5892insTGTGTGTGAGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	364	0.0028	20	c.196 others(37): Show c.196-5893_196-5892insTGTGTGAGAGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02559.hp1 HG03540.hp1 others(3): Show HG00639.hp2 HG02559.hp1 HG03540.hp1 HG03704.hp1 NA20805.hp2 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0007c0012	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0007c0012t0001	a0001c0001t0001g0222 a0001c0003t0001g0191 a0001c0003t0001g0194 others(3): Show a0001c0001t0001g0222 a0001c0003t0001g0191 a0001c0003t0001g0194 a0001c0007t0001g0283 a0001c0007t0001g0284 a0007c0012t0001g0316	6	336	0.0179	20	c.749 others(36): Show c.7493+99_7493+118dupTTTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122298639	T T	TTACTTCT others(13): Show TTACTTCTGTTTGGAACATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(325): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0002 a0001c0003 others(42): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0015 a0001c0016 a0001c0017 a0001c0019 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0029 a0001c0032 a0001c0033 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0002c0004 a0002c0043 a0003c0006 a0004c0013 a0004c0031 a0005c0010 a0006c0014 a0007c0012 a0008c0018 a0008c0021 a0009c0011 a0010c0020 a0011c0040 a0011c0041 a0012c0042 a0013c0044 a0014c0030 a0015c0028 a0016c0022 a0017c0035 a0018c0039 a0019c0045	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(49): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0003t0006 a0001c0005t0001 a0001c0005t0002 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001 a0001c0029t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0005 a0002c0004t0001 a0002c0043t0001 a0003c0006t0001 a0004c0013t0001 a0004c0031t0001 a0005c0010t0001 a0006c0014t0001 a0007c0012t0001 a0008c0018t0001 a0008c0021t0010 a0009c0011t0001 a0009c0011t0007 a0010c0020t0001 a0011c0040t0001 a0011c0041t0001 a0012c0042t0001 a0013c0044t0001 a0014c0030t0001 a0015c0028t0001 a0016c0022t0001 a0017c0035t0001 a0018c0039t0001 a0019c0045t0001	a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0121 others(322): Show a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0003g0260 a0001c0001t0003g0278 a0001c0001t0004g0175 a0001c0001t0009g0327 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0120 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0008g0294 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0213 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0282 a0001c0003t0001g0290 a0001c0003t0001g0292 a0001c0003t0006g0196 a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0107 a0001c0005t0001g0108 a0001c0005t0001g0109 a0001c0005t0001g0110 a0001c0005t0001g0111 a0001c0005t0001g0140 a0001c0005t0001g0173 a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0002g0005 a0001c0005t0002g0006 a0001c0005t0002g0007 a0001c0007t0001g0157 a0001c0007t0001g0238 a0001c0007t0001g0239 a0001c0007t0001g0240 a0001c0007t0001g0241 a0001c0007t0001g0242 a0001c0007t0001g0243 a0001c0007t0001g0244 a0001c0007t0001g0245 a0001c0007t0001g0247 a0001c0007t0001g0283 a0001c0007t0001g0284 a0001c0008t0001g0075 a0001c0008t0001g0098 a0001c0008t0001g0164 a0001c0008t0001g0165 a0001c0009t0001g0081 a0001c0009t0001g0082 a0001c0009t0001g0083 a0001c0009t0001g0168 a0001c0015t0001g0078 a0001c0015t0001g0079 a0001c0016t0001g0028 a0001c0016t0001g0029 a0001c0017t0001g0295 a0001c0017t0001g0303 a0001c0019t0001g0003 a0001c0023t0001g0249 a0001c0024t0001g0163 a0001c0025t0001g0022 a0001c0026t0001g0080 a0001c0027t0001g0072 a0001c0029t0001g0032 a0001c0032t0001g0176 a0001c0033t0001g0052 a0001c0034t0001g0286 a0001c0036t0001g0320 a0001c0037t0001g0103 a0001c0038t0005g0285 a0002c0004t0001g0049 a0002c0004t0001g0127 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0130 a0002c0004t0001g0131 a0002c0004t0001g0134 a0002c0004t0001g0135 a0002c0004t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0001g0151 a0002c0004t0001g0153 a0002c0004t0001g0154 a0002c0004t0001g0158 a0002c0004t0001g0234 a0002c0043t0001g0132 a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 a0003c0006t0001g0012 a0003c0006t0001g0013 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0042 a0003c0006t0001g0043 a0003c0006t0001g0044 a0003c0006t0001g0046 a0003c0006t0001g0047 a0003c0006t0001g0048 a0004c0013t0001g0198 a0004c0013t0001g0226 a0004c0013t0001g0227 a0004c0031t0001g0197 a0005c0010t0001g0297 a0005c0010t0001g0305 a0005c0010t0001g0307 a0005c0010t0001g0319 a0006c0014t0001g0117 a0006c0014t0001g0118 a0006c0014t0001g0144 a0007c0012t0001g0313 a0007c0012t0001g0315 a0007c0012t0001g0316 a0008c0018t0001g0114 a0008c0018t0001g0115 a0008c0021t0010g0116 a0009c0011t0001g0045 a0009c0011t0001g0112 a0009c0011t0007g0039 a0010c0020t0001g0104 a0010c0020t0001g0180 a0011c0040t0001g0248 a0011c0041t0001g0246 a0012c0042t0001g0152 a0013c0044t0001g0133 a0014c0030t0001g0202 a0015c0028t0001g0058 a0016c0022t0001g0113 a0017c0035t0001g0142 a0018c0039t0001g0233 a0019c0045t0001g0212	328	336	0.9762	20	c.938 others(39): Show c.9389-2660_9389-2641dupTACTTCTGTTTGGAACATTA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	54/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01978.hp1 NA19001.hp2 others(1): Show HG00280.hp2 HG01978.hp1 NA19001.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0034 a0001c0001 a0001c0003 a0001c0034	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0034t0001	a0001c0001t0001g0217 a0001c0001t0003g0278 a0001c0003t0001g0178 others(1): Show a0001c0001t0001g0217 a0001c0001t0003g0278 a0001c0003t0001g0178 a0001c0034t0001g0286	4	336	0.0119	20	c.109 others(41): Show c.10996-2431_10996-2412dupTTTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100098919	C C	CAGATAGA others(13): Show CAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0001 a0020c0016t0001	a0020c0016t0001g0055 a0020c0016t0001g0055	1	188	0.0053	20	c.339 others(35): Show c.339-379_339-378insATCTATCTATCTATCTATCT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	4/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100098931	T T	TAGATAGA others(13): Show TAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp2 HG01361.hp1 others(10): Show HG00099.hp2 HG01255.hp2 HG01361.hp1 HG02004.hp1 HG02015.hp2 HG02451.hp1 HG02559.hp1 HG02735.hp1 HG02922.hp1 HG03942.hp1 NA18987.hp2 NA19000.hp1 NA20905.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0030 a0003c0002t0001g0031 a0003c0002t0001g0034 others(10): Show a0003c0002t0001g0030 a0003c0002t0001g0031 a0003c0002t0001g0034 a0003c0002t0001g0035 a0003c0002t0001g0036 a0003c0002t0001g0037 a0003c0002t0001g0038 a0003c0002t0001g0048 a0003c0002t0001g0056 a0003c0002t0001g0094 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0097	13	188	0.0692	20	c.339 others(35): Show c.339-391_339-390insGTCTATCTATCTATCTATCT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	4/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124936	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	188	0.0053	20	c.45- others(37): Show c.45-16408_45-16389dupTATATATATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140717	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	188	0.0053	20	c.44+ others(35): Show c.44+1874_44+1875insATATATATATATATATATAT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	188	0.0053	20	c.44+ others(35): Show c.44+1862_44+1863insATATATATATATATATATTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRA_chr7_43753680_43812342	43758344	C C	CGGGGCCA others(13): Show CGGGGCCAGGCACACCGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	414	0.0024	20	c.-41 others(29): Show c.-412_-411insGGGGCCAGGCACACCGTGAG	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding		335		chr7	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19066.hp2 NA19077.hp1 others(2): Show HG03516.hp1 NA19066.hp2 NA19077.hp1 NA20805.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0001 a0003c0006t0001 a0001c0002t0001 a0003c0006t0001	a0001c0002t0001g0081 a0001c0002t0001g0173 a0001c0002t0001g0174 others(2): Show a0001c0002t0001g0081 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0192 a0003c0006t0001g0335	5	362	0.0138	20	c.80- others(35): Show c.80-1701_80-1700insATATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460269	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02615.hp1 others(3): Show HG02257.hp2 HG02280.hp1 HG02615.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0001g0142	6	362	0.0166	20	c.80- others(35): Show c.80-1725_80-1724insGTATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BMAL1_chr11_13272790_13392266	13314229	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG02165.hp1 others(3): Show HG00438.hp1 HG00621.hp1 HG02165.hp1 HG02293.hp1 NA19011.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0091 others(3): Show a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0189	6	314	0.0191	20	c.-19 others(39): Show c.-190+4194_-190+4213dupACACACACACACACACACAC	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13325657	T T	TTGTGTTT others(13): Show TTGTGTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG06807.hp2 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0123 a0001c0001t0001g0124	2	314	0.0064	20	c.-18 others(37): Show c.-189-751_-189-750insTTGTGTGTGTGTGTGTGTGT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13339430	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03098.hp2 HG03486.hp1 HG02897.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0214 a0001c0001t0001g0297 a0001c0001t0001g0014 a0001c0001t0001g0214 a0001c0001t0001g0297	3	314	0.0096	20	c.-13 others(41): Show c.-134-10507_-134-10488dupCACACACACACACACACACA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL2_chr12_27327836_27430286	27360803	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01981.hp2 HG02015.hp2 others(6): Show HG00741.hp2 HG01981.hp2 HG02015.hp2 HG02155.hp2 HG02738.hp1 HG02738.hp2 NA18984.hp2 NA18997.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0120 a0001c0001t0002g0098 a0001c0001t0002g0099 others(6): Show a0001c0001t0001g0120 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0209 a0001c0001t0004g0111 a0001c0001t0006g0103	9	310	0.0290	20	c.32- others(35): Show c.32-7456_32-7437dupAAAAAAAAAAAAAAAAAAAA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL2_chr12_27327836_27430286	27360815	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0195 a0001c0001t0025g0195	1	310	0.0032	20	c.32- others(35): Show c.32-7437_32-7436insAAAAAAAAACAAAAAAAAAA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL2_chr12_27327836_27430286	27360822	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19072.hp1 NA19010.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0115 a0001c0001t0002g0116 a0001c0001t0001g0115 a0001c0001t0002g0116	2	310	0.0065	20	c.32- others(35): Show c.32-7437_32-7436insAAAAAAAAAAAAAAAACAAA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL2_chr12_27327836_27430286	27360825	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	310	0.0032	20	c.32- others(35): Show c.32-7437_32-7436insAAAAAAAAAAAAAAAAAAAG	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16			chr12	TogoVar
BMAL2_chr12_27327836_27430286	27420019	G G	GCGCGCGC others(13): Show GCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0024 a0002c0002t0007g0024	1	310	0.0032	20	c.177 others(37): Show c.1775-376_1775-375insGCGCGCGCACACACACACAC	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp2 HG01169.hp1 others(5): Show HG00609.hp1 HG01167.hp2 HG01169.hp1 HG02129.hp1 HG02129.hp2 HG02922.hp2 NA18966.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0202 a0001c0001t0001g0231 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0202 a0001c0001t0001g0231 a0001c0001t0002g0226 a0001c0001t0003g0203 a0001c0001t0007g0201 a0001c0002t0001g0028 a0001c0002t0001g0042	8	291	0.0275	20	c.106 others(37): Show c.106+9372_106+9391dupTTTTTTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15480023	A A	ATATATAT others(13): Show ATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG03041.hp2 others(1): Show HG02145.hp1 HG02572.hp2 HG03041.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019	4	291	0.0138	20	c.107 others(39): Show c.107-35282_107-35281insTATATATAATATATATATAT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5			chr16	TogoVar
BMF_chr15_40082890_40113879	40106517	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01109.hp2 others(24): Show HG00280.hp1 HG00558.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG02056.hp2 HG02165.hp2 HG02293.hp1 HG02698.hp2 HG03834.hp2 HG03927.hp2 NA18747.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18968.hp2 NA18995.hp1 NA18995.hp2 NA19009.hp1 NA19010.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19077.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0025 a0001c0001t0031 a0001c0001t0033 a0001c0001t0038	a0001c0001t0001g0159 a0001c0001t0001g0190 a0001c0001t0001g0220 others(23): Show a0001c0001t0001g0159 a0001c0001t0001g0190 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0273 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0002g0013 a0001c0001t0002g0160 a0001c0001t0002g0224 a0001c0001t0002g0312 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0004g0310 a0001c0001t0005g0311 a0001c0001t0005g0316 a0001c0001t0005g0318 a0001c0001t0006g0319 a0001c0001t0007g0274 a0001c0001t0017g0189 a0001c0001t0025g0315 a0001c0001t0031g0221 a0001c0001t0033g0023 a0001c0001t0038g0275	27	414	0.0652	20	c.-5- others(33): Show c.-5-446_-5-427dupGTGTGTGTGTGTGTGTGTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMP1_chr8_22160372_22206482	22165882	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG03834.hp1 others(5): Show HG00544.hp2 HG00621.hp2 HG03834.hp1 HG03942.hp2 NA18942.hp1 NA18959.hp1 NA18974.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0002t0001g0033 a0001c0002t0001g0398	8	418	0.0191	20	c.148 others(35): Show c.148+354_148+373dupGTGTGTGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22165882	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG03834.hp1 others(5): Show HG00544.hp2 HG00621.hp2 HG03834.hp1 HG03942.hp2 NA18942.hp1 NA18959.hp1 NA18974.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0014	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0002c0014t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0002t0001g0400 a0001c0005t0001g0029 a0002c0014t0001g0027	8	408	0.0196	20	c.148 others(35): Show c.148+354_148+373dupGTGTGTGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22210468	T T	TCTCTCTC others(13): Show TCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0172 a0001c0001t0006g0172	1	408	0.0025	20	c.282 others(37): Show c.2826+774_2826+775insTCTCTCTCACACACACACAC	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22210468	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	408	0.0025	20	c.282 others(37): Show c.2826+774_2826+775insTCTCTCTCTCTCTCACACAC	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP2K_chr4_78771350_78921365	78772054	G G	GACACACA others(13): Show GACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03209.hp1 NA19005.hp2 others(1): Show HG02976.hp2 HG03209.hp1 NA19005.hp2 NA20300.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0026 a0001c0001 a0002c0002 a0011c0026	a0001c0001t0011 a0002c0002t0002 a0011c0026t0025 a0001c0001t0011 a0002c0002t0002 a0011c0026t0025	a0001c0001t0011g0040 a0001c0001t0011g0041 a0002c0002t0002g0164 others(1): Show a0001c0001t0011g0040 a0001c0001t0011g0041 a0002c0002t0002g0164 a0011c0026t0025g0109	4	204	0.0196	20	c.-44 others(31): Show c.-4490_-4489insACACACACACACACACACAC	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding		4295		chr4	TogoVar
BMP2K_chr4_78771350_78921365	78775656	G G	GAGCGGAA others(13): Show GAGCGGAAGGAGACTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG03579.hp2 HG02622.hp2 HG02965.hp2 HG03579.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0013 a0005c0004t0001 a0005c0004t0013	a0005c0004t0001g0097 a0005c0004t0013g0107 a0005c0004t0013g0108 a0005c0004t0001g0097 a0005c0004t0013g0107 a0005c0004t0013g0108	3	204	0.0147	20	c.-88 others(29): Show c.-888_-887insAGCGGAAGGAGACTCTCTCC	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding		693		chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829753	A A	ATCTTTTC others(13): Show ATCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0093 a0004c0003t0001g0093	1	204	0.0049	20	c.297 others(37): Show c.297+3617_297+3636dupTTTCTTTTCTTTTCTTTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829787	T T	TTTCTTTT others(13): Show TTTCTTTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18966.hp1 HG02976.hp2 NA18966.hp1	a0004 a0011 a0004 a0011	a0004c0003 a0011c0026 a0004c0003 a0011c0026	a0004c0003t0001 a0011c0026t0025 a0004c0003t0001 a0011c0026t0025	a0004c0003t0001g0063 a0011c0026t0025g0109 a0004c0003t0001g0063 a0011c0026t0025g0109	2	204	0.0098	20	c.297 others(37): Show c.297+3636_297+3637insTTTCTCTTCTCTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829787	T T	TTTCTTTT others(13): Show TTTCTTTTCTTTTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	204	0.0049	20	c.297 others(37): Show c.297+3636_297+3637insTTTCTTTTCTCTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829787	T T	TTTCTTTT others(13): Show TTTCTTTTCTTTTCTTTTCTC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0103 a0004c0003t0001g0103	1	204	0.0049	20	c.297 others(37): Show c.297+3636_297+3637insTTTCTTTTCTTTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP5_chr6_55748653_55880590	55759144	C C	CACACACA others(13): Show CACACACAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0284 a0001c0011t0005g0284	1	320	0.0031	20	c.110 others(35): Show c.1105-30_1105-29insTTTTTTTTTTTTTTGTGTGT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	5/6			chr6	TogoVar
BMP5_chr6_55748653_55880590	55837369	A A	AGATAGAT others(13): Show AGATAGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03130.hp1 HG03139.hp1 others(5): Show HG00140.hp2 HG03130.hp1 HG03139.hp1 HG03579.hp2 HG03927.hp2 HG04199.hp2 NA19001.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0004t0001	a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0002t0001g0083 others(5): Show a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0002t0001g0083 a0001c0002t0001g0125 a0001c0002t0002g0086 a0001c0002t0006g0049 a0001c0002t0008g0030 a0001c0004t0001g0087	8	320	0.0250	20	c.491 others(39): Show c.491-17523_491-17522insCATCTATCTATCTATCTATC	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	1/6			chr6	TogoVar
BMP5_chr6_55748653_55880590	55853138	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	320	0.0031	20	c.490 others(39): Show c.490+21218_490+21237dupTATTTTATTTTATTTTATTT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	1/6			chr6	TogoVar
BMP6_chr6_7721099_7886728	7813086	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0273 a0002c0003t0001g0273	1	308	0.0033	20	c.665 others(39): Show c.665-32050_665-32031dupAAAAAAAAAAAAAAAAAAAA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	308	0.0033	20	c.665 others(39): Show c.665-32031_665-32030insAAAAAAAAAAAAAATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp1 homoSapiens_chm13v2.hp1 HG02559.hp1 HG02818.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0001t0003 a0001c0018t0003 a0001c0001t0001 a0001c0001t0003 a0001c0018t0003	a0001c0001t0001g0116 a0001c0001t0003g0136 a0001c0018t0003g0224 a0001c0001t0001g0116 a0001c0001t0003g0136 a0001c0018t0003g0224	3	308	0.0097	20	c.665 others(39): Show c.665-32031_665-32030insAAAAAAAAAAAATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp1 HG01258.hp2 others(3): Show HG01192.hp1 HG01256.hp1 HG01258.hp2 HG02615.hp1 HG03654.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0005c0013	a0001c0001t0002 a0001c0002t0002 a0001c0002t0032 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0032 a0001c0010t0003 a0005c0013t0002	a0001c0001t0002g0177 a0001c0002t0002g0182 a0001c0002t0032g0109 others(3): Show a0001c0001t0002g0177 a0001c0002t0002g0182 a0001c0002t0032g0109 a0001c0010t0003g0104 a0001c0010t0003g0106 a0005c0013t0002g0256	6	308	0.0195	20	c.665 others(39): Show c.665-32031_665-32030insAAAAAAAAAATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG04184.hp2 HG01074.hp2 HG01106.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0031 a0001c0001t0001 a0001c0002t0002 a0001c0002t0031	a0001c0001t0001g0171 a0001c0002t0002g0200 a0001c0002t0031g0091 a0001c0001t0001g0171 a0001c0002t0002g0200 a0001c0002t0031g0091	3	308	0.0097	20	c.665 others(39): Show c.665-32031_665-32030insAAAAAAAATATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18960.hp2 HG02895.hp1 NA18960.hp2	a0002 a0002	a0002c0004 a0002c0008 a0002c0004 a0002c0008	a0002c0004t0002 a0002c0008t0001 a0002c0004t0002 a0002c0008t0001	a0002c0004t0002g0249 a0002c0008t0001g0303 a0002c0004t0002g0249 a0002c0008t0001g0303	2	308	0.0065	20	c.665 others(39): Show c.665-32031_665-32030insAAAAAATATATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7856595	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01993.hp2 HG02970.hp2 others(4): Show HG01192.hp2 HG01993.hp2 HG02970.hp2 NA18967.hp1 NA18968.hp2 NA19060.hp1 NA19081.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0005t0004 a0004c0007t0003	a0001c0001t0001g0142 a0001c0002t0001g0082 a0002c0003t0001g0236 others(4): Show a0001c0001t0001g0142 a0001c0002t0001g0082 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0268 a0003c0005t0004g0016 a0004c0007t0003g0079	7	308	0.0227	20	c.858 others(37): Show c.858-4837_858-4836insTTTTTTTTTTTTTTTTTTTT	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP7_chr20_57163753_57271641	57218427	G G	GGTAGCTG others(13): Show GGTAGCTGGTGTTTGTTTGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03688.hp2 HG00280.hp1 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0028 a0001c0003t0016 a0001c0003t0028	a0001c0003t0016g0265 a0001c0003t0028g0266 a0001c0003t0016g0265 a0001c0003t0028g0266	2	272	0.0074	20	c.611 others(37): Show c.611+9801_611+9802insACCAAACAAACACCAGCTAC	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMP8A_chr1_39486636_39534869	39511450	G G	GTGGAGCA others(13): Show GTGGAGCATTTCCCAGAGGAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(55): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG01081.hp1 HG01167.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02300.hp1 HG02572.hp2 HG03453.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18944.hp1 NA18947.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2	a0003 a0004 a0010 others(2): Show a0003 a0004 a0010 a0011 a0017	a0003c0003 a0004c0004 a0010c0011 others(2): Show a0003c0003 a0004c0004 a0010c0011 a0011c0015 a0017c0025	a0003c0003t0003 a0003c0003t0013 a0003c0003t0050 others(13): Show a0003c0003t0003 a0003c0003t0013 a0003c0003t0050 a0003c0003t0053 a0003c0003t0054 a0003c0003t0055 a0004c0004t0005 a0004c0004t0015 a0004c0004t0016 a0004c0004t0028 a0004c0004t0029 a0010c0011t0003 a0010c0011t0051 a0011c0015t0016 a0011c0015t0033 a0017c0025t0001	a0003c0003t0003g0002 a0003c0003t0003g0013 a0003c0003t0003g0021 others(42): Show a0003c0003t0003g0002 a0003c0003t0003g0013 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0053 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0062 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0013g0013 a0003c0003t0013g0057 a0003c0003t0013g0061 a0003c0003t0013g0064 a0003c0003t0050g0063 a0003c0003t0053g0058 a0003c0003t0054g0024 a0003c0003t0055g0072 a0004c0004t0005g0090 a0004c0004t0005g0092 a0004c0004t0015g0027 a0004c0004t0015g0094 a0004c0004t0016g0089 a0004c0004t0016g0093 a0004c0004t0028g0091 a0004c0004t0029g0095 a0010c0011t0003g0114 a0010c0011t0003g0136 a0010c0011t0003g0144 a0010c0011t0051g0124 a0011c0015t0016g0026 a0011c0015t0033g0026 a0017c0025t0001g0069	58	362	0.1602	20	c.524 others(33): Show c.524+87_524+88insTGGAGCATTTCCCAGAGGAC	BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding	2/6			chr1	TogoVar
BMP8A_chr1_39486636_39534869	39531663	A A	ACGTCCGA others(13): Show ACGTCCGAGGCAGCTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0060 a0005c0006t0060	a0005c0006t0060g0012 a0005c0006t0060g0012	1	362	0.0028	20	c.58 others(31): Show c.5865_*5866insCGTCCGAGGCAGCTGCCTGG	BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding		1795		chr1	TogoVar
BMPER_chr7_33900539_34161427	33919923	A A	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03195.hp2 HG04115.hp2 others(1): Show HG00621.hp2 HG03195.hp2 HG04115.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0006 a0001c0002t0008 a0001c0003t0005 others(1): Show a0001c0001t0006 a0001c0002t0008 a0001c0003t0005 a0002c0006t0002	a0001c0001t0006g0009 a0001c0002t0008g0061 a0001c0003t0005g0154 others(1): Show a0001c0001t0006g0009 a0001c0002t0008g0061 a0001c0003t0005g0154 a0002c0006t0002g0131	4	232	0.0172	20	c.219 others(39): Show c.219+13032_219+13051dupCTATCTATCTATCTATCTAT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	33919923	A A	ATATCTGT others(13): Show ATATCTGTCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp1 HG03486.hp1 HG02257.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0001t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0014 a0001c0001t0003g0018 a0001c0004t0001g0016 a0001c0001t0001g0014 a0001c0001t0003g0018 a0001c0004t0001g0016	3	232	0.0129	20	c.219 others(39): Show c.219+13025_219+13026insGTCTATCTATCTATCTATCT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34024357	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0168 a0001c0002t0007g0168	1	232	0.0043	20	c.577 others(39): Show c.577-21943_577-21924dupAAAAAAAAAAAAAAAAAAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar

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