Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BCO1_chr16_81233689_81296142	81235201	A A	AATAAATA others(3): Show AATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG01109.hp2 others(12): Show HG00558.hp1 HG01109.hp1 HG01109.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG02083.hp2 HG02300.hp1 HG03491.hp2 HG03492.hp1 NA18940.hp2 NA18973.hp1 NA18975.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0002c0004 others(3): Show a0001c0001 a0001c0011 a0002c0004 a0002c0006 a0003c0003 a0003c0009	a0001c0001t0001 a0001c0011t0001 a0002c0004t0001 others(3): Show a0001c0001t0001 a0001c0011t0001 a0002c0004t0001 a0002c0006t0001 a0003c0003t0001 a0003c0009t0001	a0001c0001t0001g0226 a0001c0011t0001g0081 a0002c0004t0001g0033 others(12): Show a0001c0001t0001g0226 a0001c0011t0001g0081 a0002c0004t0001g0033 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0050 a0002c0004t0001g0053 a0002c0004t0001g0065 a0002c0004t0001g0080 a0002c0004t0001g0090 a0002c0006t0001g0150 a0003c0003t0001g0105 a0003c0003t0001g0194 a0003c0003t0001g0196 a0003c0009t0001g0052	15	402	0.0373	10	c.-37 others(21): Show c.-3708_-3707insATAAATATAT		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding					3487		chr16	TogoVar
BCO1_chr16_81233689_81296142	81246850	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp1 HG02897.hp2 others(3): Show HG02559.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 a0001c0002 a0001c0005 a0002c0004	a0001c0002t0001 a0001c0005t0001 a0002c0004t0001 a0001c0002t0001 a0001c0005t0001 a0002c0004t0001	a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0005t0001g0012 others(3): Show a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0005t0001g0012 a0001c0005t0001g0013 a0002c0004t0001g0009 a0002c0004t0001g0011	6	402	0.0149	10	c.193 others(27): Show c.193+1256_193+1265dupAAAAAAAAAA		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81248405	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02280.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0027 a0001c0005t0001g0031 a0001c0005t0001g0027 a0001c0005t0001g0031	2	402	0.0050	10	c.193 others(27): Show c.193+2814_193+2823dupAAAAAAAAAA		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81251872	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	402	0.0025	10	c.193 others(27): Show c.193+6270_193+6271insGTGTGTGTGT		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81251874	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp1 HG02280.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0007t0001 a0001c0005t0001 a0001c0007t0001	a0001c0005t0001g0027 a0001c0007t0001g0201 a0001c0005t0001g0027 a0001c0007t0001g0201	2	402	0.0050	10	c.193 others(27): Show c.193+6279_193+6288dupGTGTGTGTGT		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81270692	C C	CTCTGTGT others(3): Show CTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00673.hp2 others(92): Show HG00423.hp2 HG00544.hp1 HG00673.hp2 HG01099.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0008 a0013 a0014	a0001c0001 a0001c0002 a0001c0011 others(6): Show a0001c0001 a0001c0002 a0001c0011 a0003c0003 a0003c0009 a0007c0026 a0008c0013 a0013c0019 a0014c0025	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0011t0001 a0003c0003t0001 a0003c0009t0001 a0007c0026t0001 a0008c0013t0001 a0013c0019t0001 a0014c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0147 a0001c0001t0001g0178 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0147 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0366 a0001c0001t0001g0374 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0393 a0001c0001t0002g0349 a0001c0001t0002g0368 a0001c0001t0002g0372 a0001c0001t0002g0375 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0002g0383 a0001c0001t0002g0390 a0001c0002t0001g0124 a0001c0002t0001g0135 a0001c0002t0001g0149 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0011t0001g0081 a0003c0003t0001g0177 a0003c0003t0001g0200 a0003c0003t0001g0239 a0003c0003t0001g0251 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0301 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0346 a0003c0003t0001g0351 a0003c0003t0001g0367 a0003c0003t0001g0369 a0003c0003t0001g0371 a0003c0003t0001g0373 a0003c0003t0001g0388 a0003c0009t0001g0052 a0007c0026t0001g0370 a0008c0013t0001g0029 a0013c0019t0001g0188 a0014c0025t0001g0302	95	402	0.2363	10	c.110 others(27): Show c.1101+277_1101+278insCTGTGTGTGT		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81270692	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(29): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00609.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp2 HG02080.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02630.hp1 HG02965.hp2 HG03453.hp1 HG03491.hp1 HG03669.hp2 NA18945.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004 a0002c0006 a0003c0003 a0011c0023	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0002c0004t0001 a0002c0006t0001 a0003c0003t0001 a0011c0023t0001	a0001c0001t0001g0318 a0001c0002t0001g0015 a0001c0002t0001g0056 others(28): Show a0001c0001t0001g0318 a0001c0002t0001g0015 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0127 a0001c0007t0001g0235 a0001c0007t0001g0392 a0002c0004t0001g0004 a0002c0004t0001g0039 a0002c0004t0001g0090 a0002c0004t0001g0092 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0134 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0168 a0002c0006t0001g0150 a0002c0006t0001g0222 a0002c0006t0001g0238 a0002c0006t0001g0310 a0002c0006t0001g0312 a0002c0006t0001g0314 a0002c0006t0001g0315 a0002c0006t0001g0321 a0002c0006t0001g0378 a0002c0006t0001g0389 a0003c0003t0001g0387 a0011c0023t0001g0174	32	402	0.0796	10	c.110 others(27): Show c.1101+295_1101+304dupTGTGTGTGTG		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81292236	T T	TTTTTCTT others(3): Show TTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01943.hp2 HG02074.hp1 others(6): Show HG01261.hp2 HG01943.hp2 HG02074.hp1 HG02602.hp2 HG03239.hp2 HG03490.hp2 HG03669.hp1 NA18946.hp1 NA20300.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0001c0005 a0003c0003 others(1): Show a0001c0001 a0001c0005 a0003c0003 a0013c0019	a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 a0013c0019t0001	a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0005t0001g0091 others(6): Show a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0005t0001g0091 a0003c0003t0001g0158 a0003c0003t0001g0251 a0003c0003t0001g0346 a0003c0003t0001g0351 a0003c0003t0001g0373 a0013c0019t0001g0188	9	402	0.0224	10	c.16 others(21): Show c.1659_*1660insTTTTCTTTTC		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding					1095		chr16	TogoVar
BCO2_chr11_112170512_112223946	112192925	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01109.hp2 others(39): Show HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG02602.hp1 HG02647.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG03195.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03834.hp2 HG06807.hp1 NA18940.hp2 NA18969.hp2 NA18972.hp1 NA18987.hp1 NA18989.hp1 NA18995.hp1 NA19001.hp1 NA19003.hp1 NA19011.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0007t0001 a0002c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0044 others(36): Show a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0098 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0167 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0273 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0299 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0344 a0001c0001t0001g0353 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0008g0334 a0001c0007t0001g0285 a0002c0002t0001g0001 a0002c0002t0001g0216 a0002c0002t0001g0282	42	380	0.1105	10	c.294 others(25): Show c.294-540_294-531dupTTTTTTTTTT		BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
BCO2_chr11_112170512_112223946	112196915	T T	TCCTTCCC others(3): Show TCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp2 HG02258.hp2 others(4): Show HG00642.hp2 HG01257.hp2 HG02258.hp2 HG02486.hp1 HG02896.hp2 HG02897.hp1 homoSapiens_chm13v2.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0018 a0001c0001 a0013c0018	a0001c0001t0001 a0013c0018t0001 a0001c0001t0001 a0013c0018t0001	a0001c0001t0001g0013 a0001c0001t0001g0131 a0001c0001t0001g0132 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0013c0018t0001g0277	7	380	0.0184	10	c.736 others(27): Show c.736+2201_736+2210dupCCTTCCCTTC		BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
BCO2_chr11_112170512_112223946	112211352	A A	ACACACAC others(3): Show ACACACACACT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01496.hp2 HG02109.hp1 others(4): Show HG00673.hp1 HG01496.hp2 HG02109.hp1 HG02145.hp2 HG02486.hp2 HG02897.hp2 NA18968.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0006c0012 a0001c0001 a0001c0006 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0006c0012t0005	a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0271 others(4): Show a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0271 a0001c0001t0002g0124 a0001c0006t0001g0100 a0006c0012t0005g0309 a0006c0012t0005g0310	7	380	0.0184	10	c.119 others(29): Show c.1195-2372_1195-2371insCACACACACT		BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	8/11						chr11	TogoVar
BCO2_chr11_112170512_112223946	112213131	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	380	0.0026	10	c.119 others(27): Show c.1195-573_1195-564dupTTTTTTTTTT		BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
BCORL1_chrX_129977635_130063071	130000894	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp1 HG02615.hp1 HG01081.hp1 HG02055.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0092 a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0092	3	203	0.0148	10	c.-44 others(27): Show c.-44-4293_-44-4292insGTGTGTGTGT		BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chrX	TogoVar
BCORL1_chrX_129977635_130063071	130003374	C C	CTTCTTCT others(3): Show CTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02559.hp2 others(8): Show HG01884.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0001c0006 a0009c0021 a0001c0003 a0001c0006 a0009c0021	a0001c0003t0002 a0001c0006t0002 a0009c0021t0002 a0001c0003t0002 a0001c0006t0002 a0009c0021t0002	a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0053 others(8): Show a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0185 a0001c0003t0002g0193 a0001c0006t0002g0093 a0001c0006t0002g0094 a0001c0006t0002g0119 a0009c0021t0002g0007	11	203	0.0542	10	c.-44 others(27): Show c.-44-1812_-44-1811insCTTCTTCTTT		BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chrX	TogoVar
BCORL1_chrX_129977635_130063071	130043746	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03486.hp2 HG06807.hp2 others(1): Show HG00738.hp1 HG03486.hp2 HG06807.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0181 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0181 a0001c0001t0005g0120	4	203	0.0197	10	c.484 others(29): Show c.4840+4494_4840+4503dupATATATATAT		BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chrX	TogoVar
BCORL1_chrX_129977635_130063071	130043778	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	203	0.0049	10	c.484 others(29): Show c.4840+4497_4840+4498insTTTTTTTTTT		BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chrX	TogoVar
BCORL1_chrX_129977635_130063071	130043784	A A	ATATATAT others(3): Show ATATATATTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	203	0.0049	10	c.484 others(29): Show c.4840+4503_4840+4504insATATATTTTT		BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chrX	TogoVar
BCOR_chrX_40046251_40102958	40046522	T T	TTATATAT others(3): Show TTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	257	0.0039	10	c.55 others(21): Show c.5586_*5587insTATATATATA		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding					4728		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046574	A A	ATATATAT others(3): Show ATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 NA18990.hp1 NA19056.hp1 HG03831.hp1 NA18990.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0114 a0001c0001t0001g0220 a0001c0001t0001g0052 a0001c0001t0001g0114 a0001c0001t0001g0220	3	257	0.0117	10	c.55 others(21): Show c.5534_*5535insCATATATATA		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding					4676		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046594	A A	ATATATAT others(3): Show ATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	257	0.0039	10	c.55 others(21): Show c.5514_*5515insCATATATATA		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding					4656		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046596	A A	ATATATAT others(3): Show ATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0159 a0003c0019t0001g0159	1	257	0.0039	10	c.55 others(21): Show c.5512_*5513insCATATATATA		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding					4654		chrX	TogoVar
BCR_chr22_23175509_23323037	23202721	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01928.hp1 others(25): Show HG00423.hp2 HG00673.hp1 HG01928.hp1 HG02155.hp1 HG02155.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03471.hp1 HG03492.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18942.hp1 NA18947.hp1 NA18952.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18973.hp2 NA18981.hp2 NA18984.hp1 NA19001.hp1 NA19001.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0002c0003 a0002c0036 a0003c0031 a0003c0034	a0001c0001t0004 a0001c0001t0011 a0001c0001t0023 others(20): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0023 a0001c0001t0126 a0001c0001t0147 a0001c0002t0111 a0001c0002t0137 a0001c0004t0036 a0001c0004t0041 a0001c0004t0199 a0001c0004t0200 a0001c0004t0203 a0001c0005t0038 a0001c0010t0010 a0002c0003t0002 a0002c0003t0003 a0002c0003t0087 a0002c0003t0089 a0002c0003t0098 a0002c0003t0145 a0002c0036t0097 a0003c0031t0129 a0003c0034t0130	a0001c0001t0004g0240 a0001c0001t0011g0223 a0001c0001t0023g0237 others(24): Show a0001c0001t0004g0240 a0001c0001t0011g0223 a0001c0001t0023g0237 a0001c0001t0126g0233 a0001c0001t0147g0209 a0001c0002t0111g0236 a0001c0002t0137g0215 a0001c0004t0036g0073 a0001c0004t0041g0061 a0001c0004t0199g0031 a0001c0004t0200g0065 a0001c0004t0203g0035 a0001c0005t0038g0030 a0001c0005t0038g0060 a0001c0010t0010g0002 a0001c0010t0010g0103 a0002c0003t0002g0222 a0002c0003t0002g0238 a0002c0003t0003g0221 a0002c0003t0003g0225 a0002c0003t0087g0239 a0002c0003t0089g0247 a0002c0003t0098g0224 a0002c0003t0145g0214 a0002c0036t0097g0244 a0003c0031t0129g0277 a0003c0034t0130g0232	28	296	0.0946	10	c.127 others(31): Show c.1279+20500_1279+20509dupGTGTGTGTGT		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCR_chr22_23175509_23323037	23211655	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp1 HG03041.hp2 others(1): Show HG02257.hp2 HG02723.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0009 a0001c0004 a0001c0005 a0001c0009	a0001c0004t0109 a0001c0005t0026 a0001c0005t0107 others(1): Show a0001c0004t0109 a0001c0005t0026 a0001c0005t0107 a0001c0009t0115	a0001c0004t0109g0273 a0001c0005t0026g0278 a0001c0005t0107g0274 others(1): Show a0001c0004t0109g0273 a0001c0005t0026g0278 a0001c0005t0107g0274 a0001c0009t0115g0272	4	296	0.0135	10	c.127 others(31): Show c.1279+29431_1279+29440dupGTTTTGTTTT		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCR_chr22_23175509_23323037	23231506	C C	CATAAAAT others(3): Show CATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(103): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01070.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18961.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18994.hp2 NA19001.hp1 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19090.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0012 a0001c0013 a0001c0017 a0001c0019 a0001c0020 a0001c0040 a0002c0003 a0002c0007 a0002c0022 a0002c0036 a0003c0008 a0006c0023 a0009c0025	a0001c0001t0059 a0001c0001t0062 a0001c0001t0063 others(85): Show a0001c0001t0059 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0104 a0001c0001t0120 a0001c0001t0124 a0001c0001t0131 a0001c0001t0142 a0001c0001t0143 a0001c0001t0150 a0001c0001t0152 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0029 a0001c0002t0031 a0001c0002t0033 a0001c0002t0052 a0001c0002t0069 a0001c0002t0083 a0001c0002t0086 a0001c0002t0111 a0001c0002t0113 a0001c0002t0133 a0001c0002t0136 a0001c0002t0137 a0001c0002t0139 a0001c0002t0160 a0001c0002t0217 a0001c0004t0007 a0001c0004t0014 a0001c0004t0036 a0001c0004t0166 a0001c0004t0167 a0001c0004t0180 a0001c0004t0199 a0001c0004t0200 a0001c0004t0203 a0001c0004t0204 a0001c0004t0205 a0001c0005t0014 a0001c0005t0037 a0001c0005t0106 a0001c0005t0172 a0001c0005t0173 a0001c0005t0175 a0001c0005t0176 a0001c0005t0191 a0001c0005t0194 a0001c0006t0001 a0001c0006t0061 a0001c0006t0084 a0001c0009t0039 a0001c0012t0012 a0001c0013t0011 a0001c0013t0090 a0001c0013t0135 a0001c0017t0006 a0001c0019t0032 a0001c0020t0156 a0001c0040t0075 a0002c0003t0003 a0002c0003t0004 a0002c0003t0022 a0002c0003t0043 a0002c0003t0068 a0002c0003t0072 a0002c0003t0089 a0002c0003t0091 a0002c0003t0093 a0002c0003t0095 a0002c0003t0099 a0002c0003t0103 a0002c0003t0110 a0002c0003t0145 a0002c0007t0014 a0002c0007t0034 a0002c0007t0183 a0002c0022t0018 a0002c0036t0097 a0003c0008t0005 a0006c0023t0138 a0009c0025t0190	a0001c0001t0059g0166 a0001c0001t0062g0142 a0001c0001t0063g0141 others(102): Show a0001c0001t0059g0166 a0001c0001t0062g0142 a0001c0001t0063g0141 a0001c0001t0064g0186 a0001c0001t0104g0184 a0001c0001t0120g0252 a0001c0001t0124g0099 a0001c0001t0131g0289 a0001c0001t0142g0248 a0001c0001t0143g0246 a0001c0001t0150g0182 a0001c0001t0152g0208 a0001c0002t0004g0227 a0001c0002t0008g0144 a0001c0002t0011g0242 a0001c0002t0016g0195 a0001c0002t0016g0196 a0001c0002t0020g0133 a0001c0002t0020g0140 a0001c0002t0025g0178 a0001c0002t0027g0175 a0001c0002t0027g0176 a0001c0002t0029g0004 a0001c0002t0031g0171 a0001c0002t0033g0132 a0001c0002t0052g0155 a0001c0002t0069g0164 a0001c0002t0083g0119 a0001c0002t0086g0256 a0001c0002t0111g0236 a0001c0002t0113g0212 a0001c0002t0133g0180 a0001c0002t0136g0181 a0001c0002t0137g0215 a0001c0002t0139g0168 a0001c0002t0160g0131 a0001c0002t0217g0139 a0001c0004t0007g0014 a0001c0004t0014g0043 a0001c0004t0036g0072 a0001c0004t0166g0032 a0001c0004t0167g0042 a0001c0004t0180g0084 a0001c0004t0199g0031 a0001c0004t0200g0065 a0001c0004t0203g0035 a0001c0004t0204g0054 a0001c0004t0205g0033 a0001c0005t0014g0038 a0001c0005t0037g0039 a0001c0005t0037g0040 a0001c0005t0106g0095 a0001c0005t0172g0044 a0001c0005t0173g0045 a0001c0005t0175g0011 a0001c0005t0176g0008 a0001c0005t0191g0009 a0001c0005t0194g0010 a0001c0006t0001g0156 a0001c0006t0001g0163 a0001c0006t0001g0165 a0001c0006t0001g0190 a0001c0006t0061g0162 a0001c0006t0084g0120 a0001c0009t0039g0055 a0001c0009t0039g0056 a0001c0012t0012g0093 a0001c0013t0011g0169 a0001c0013t0090g0187 a0001c0013t0135g0173 a0001c0017t0006g0170 a0001c0019t0032g0136 a0001c0019t0032g0137 a0001c0020t0156g0192 a0001c0040t0075g0143 a0002c0003t0003g0087 a0002c0003t0003g0225 a0002c0003t0003g0251 a0002c0003t0003g0253 a0002c0003t0003g0288 a0002c0003t0004g0265 a0002c0003t0022g0234 a0002c0003t0043g0282 a0002c0003t0068g0160 a0002c0003t0072g0108 a0002c0003t0089g0247 a0002c0003t0091g0231 a0002c0003t0093g0241 a0002c0003t0095g0230 a0002c0003t0099g0250 a0002c0003t0103g0249 a0002c0003t0110g0174 a0002c0003t0145g0214 a0002c0007t0014g0020 a0002c0007t0034g0063 a0002c0007t0034g0066 a0002c0007t0183g0068 a0002c0022t0018g0146 a0002c0036t0097g0244 a0003c0008t0005g0079 a0003c0008t0005g0083 a0003c0008t0005g0085 a0003c0008t0005g0086 a0006c0023t0138g0185 a0009c0025t0190g0080	106	296	0.3581	10	c.128 others(31): Show c.1280-22257_1280-22248dupATAAAATAAA		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCR_chr22_23175509_23323037	23231508	T T	TAAAATAA others(3): Show TAAAATAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0096 a0001c0002t0025g0096	1	296	0.0034	10	c.128 others(31): Show c.1280-22282_1280-22281insAAAAATAAAA		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCR_chr22_23175509_23323037	23297207	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0190 a0009c0025t0190	a0009c0025t0190g0080 a0009c0025t0190g0080	1	296	0.0034	10	c.301 others(29): Show c.3012+2058_3012+2059insTTTTTTTTTT		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	16/22					INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197510597	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0210 a0001c0001t0210	a0001c0001t0210g0168 a0001c0001t0210g0168	1	319	0.0031	10	c.12 others(21): Show c.1297_*1298insACACACACAC		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1297		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp1 HG03834.hp2 HG03942.hp1 others(3): Show HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18522.hp1 NA18955.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0166 a0001c0001t0185 others(3): Show a0001c0001t0088 a0001c0001t0166 a0001c0001t0185 a0001c0001t0200 a0001c0001t0201 a0001c0001t0211	a0001c0001t0088g0250 a0001c0001t0166g0120 a0001c0001t0185g0097 others(3): Show a0001c0001t0088g0250 a0001c0001t0166g0120 a0001c0001t0185g0097 a0001c0001t0200g0059 a0001c0001t0201g0290 a0001c0001t0211g0167	6	319	0.0188	10	c.12 others(21): Show c.1286_*1295dupACACACACAC		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03130.hp1 NA20129.hp2 HG01255.hp2 HG03130.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0087 a0001c0001t0092 a0001c0001t0040 a0001c0001t0087 a0001c0001t0092	a0001c0001t0040g0009 a0001c0001t0087g0305 a0001c0001t0092g0306 a0001c0001t0040g0009 a0001c0001t0087g0305 a0001c0001t0092g0306	3	319	0.0094	10	c.83+ others(25): Show c.83+3830_83+3839dupAAAAAAAAAA		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7						chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96213495	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp1 HG02970.hp1 others(3): Show HG02145.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0051 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0051 a0001c0001t0059	a0001c0001t0001g0078 a0001c0001t0018g0017 a0001c0001t0018g0077 others(2): Show a0001c0001t0001g0078 a0001c0001t0018g0017 a0001c0001t0018g0077 a0001c0001t0051g0142 a0001c0001t0059g0109	6	436	0.0138	10	c.-40 others(27): Show c.-40+8565_-40+8574dupACACACACAC		BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr14	TogoVar
BDKRB2_chr14_96199839_96249164	96227703	A A	ACACACAA others(3): Show ACACACAAATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0063 a0001c0001t0007g0063	1	436	0.0023	10	c.-39 others(27): Show c.-39-9359_-39-9350dupAATGCACACA		BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr14	TogoVar
BDNF_chr11_27649893_27705455	27659629	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0270 a0001c0001t0018g0270	1	360	0.0028	10	c.-21 others(27): Show c.-21-1054_-21-1045dupCACACACACA		BDNF	ENSG00000176697.20	transcript	ENST00000356660.9	protein_coding	1/1						chr11	TogoVar
BDNF_chr11_27649893_27705455	27697158	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02071.hp1 HG04199.hp1 others(2): Show HG01361.hp1 HG02071.hp1 HG04199.hp1 NA18950.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0058 a0001c0001t0001g0122 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0009g0163	5	360	0.0139	10	c.-22 others(27): Show c.-22+3005_-22+3006insCTCTCTCTCT		BDNF	ENSG00000176697.20	transcript	ENST00000356660.9	protein_coding	1/1						chr11	TogoVar
BDNF_chr11_27649893_27705455	27697160	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	360	0.0028	10	c.-22 others(27): Show c.-22+3003_-22+3004insCTCTCTCTCT		BDNF	ENSG00000176697.20	transcript	ENST00000356660.9	protein_coding	1/1						chr11	TogoVar
BDNF_chr11_27649893_27705455	27697162	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0197 a0002c0002t0026g0197	1	360	0.0028	10	c.-22 others(27): Show c.-22+3001_-22+3002insCTCTCTCTCT		BDNF	ENSG00000176697.20	transcript	ENST00000356660.9	protein_coding	1/1						chr11	TogoVar
BDNF_chr11_27649893_27705455	27698226	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00738.hp2 others(8): Show HG00280.hp2 HG00609.hp2 HG00738.hp2 HG01169.hp2 HG01175.hp2 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02055.hp1 HG03239.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0230 a0002c0002t0002g0231 others(7): Show a0002c0002t0002g0045 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0247	11	360	0.0306	10	c.-22 others(27): Show c.-22+1928_-22+1937dupTTTTTTTTTT		BDNF	ENSG00000176697.20	transcript	ENST00000356660.9	protein_coding	1/1						chr11	TogoVar
BDP1_chr5_71450651_71572820	71506758	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0005 a0016c0014t0001g0005	1	325	0.0031	10	c.237 others(29): Show c.2372+2021_2372+2030dupATATATATAT		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	16/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BDP1_chr5_71450651_71572820	71506786	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02976.hp1 HG04199.hp1 others(1): Show HG01943.hp1 HG02976.hp1 HG04199.hp1 NA20129.hp1	a0004 a0009 a0004 a0009	a0004c0004 a0009c0008 a0004c0004 a0009c0008	a0004c0004t0004 a0004c0004t0010 a0009c0008t0007 a0004c0004t0004 a0004c0004t0010 a0009c0008t0007	a0004c0004t0004g0313 a0004c0004t0004g0314 a0004c0004t0010g0322 others(1): Show a0004c0004t0004g0313 a0004c0004t0004g0314 a0004c0004t0010g0322 a0009c0008t0007g0095	4	325	0.0123	10	c.237 others(29): Show c.2372+2064_2372+2073dupACACACACAC		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	16/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BDP1_chr5_71450651_71572820	71506823	A A	ACACACAC others(3): Show ACACACACACC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03710.hp2 NA18982.hp2 others(1): Show HG03669.hp2 HG03710.hp2 NA18982.hp2 NA18995.hp2	a0001 a0004 a0031 others(1): Show a0001 a0004 a0031 a0034	a0001c0001 a0004c0004 a0031c0029 others(1): Show a0001c0001 a0004c0004 a0031c0029 a0034c0023	a0001c0001t0002 a0004c0004t0004 a0031c0029t0004 others(1): Show a0001c0001t0002 a0004c0004t0004 a0031c0029t0004 a0034c0023t0002	a0001c0001t0002g0085 a0004c0004t0004g0315 a0031c0029t0004g0317 others(1): Show a0001c0001t0002g0085 a0004c0004t0004g0315 a0031c0029t0004g0317 a0034c0023t0002g0069	4	325	0.0123	10	c.237 others(29): Show c.2372+2073_2372+2074insACACACACCC		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	16/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BDP1_chr5_71450651_71572820	71516218	G G	GCAAGGAT others(3): Show GCAAGGATAAT	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0032 a0032	a0032c0025 a0032c0025	a0032c0025t0002 a0032c0025t0002	a0032c0025t0002g0066 a0032c0025t0002g0066	1	325	0.0031	10	c.480 others(19): Show c.4807_4808insCAAGGATAAT	p.Glu others(6): Show p.Glu1603fs	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	21/39	5035/11037	4808/7875	1603/2624			chr5	TogoVar
BEAN1_chr16_66422295_66487833	66427218	G G	GCTCGCCT others(3): Show GCTCGCCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	298	0.0034	10	c.-29 others(19): Show c.-296_-295insCTCGCCTGGC		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding					76		chr16	TogoVar
BEAN1_chr16_66422295_66487833	66461569	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01071.hp2 others(11): Show HG00544.hp1 HG01069.hp1 HG01071.hp2 HG01943.hp2 HG03209.hp1 HG03453.hp2 HG03669.hp2 HG04228.hp1 NA18942.hp2 NA18947.hp2 NA18964.hp2 NA18982.hp2 NA18994.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0209 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0011 a0001c0001t0008g0006	14	298	0.0470	10	c.26- others(25): Show c.26-7997_26-7988dupCACACACACA		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474603	A A	AGGAAGGA others(3): Show AGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG03098.hp2 others(1): Show HG02723.hp1 HG02965.hp1 HG03098.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0150 a0001c0001t0003g0177 others(1): Show a0001c0001t0003g0123 a0001c0001t0003g0150 a0001c0001t0003g0177 a0001c0001t0003g0206	4	298	0.0134	10	c.290 others(27): Show c.290-2956_290-2955insGAAGGAAGGG		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEGAIN_chr14_100532147_100592417	100583692	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp2 HG02257.hp1 others(8): Show HG01106.hp2 HG01358.hp2 HG02257.hp1 HG02486.hp1 HG02886.hp1 HG03139.hp2 HG03195.hp2 NA18969.hp1 NA19003.hp2 NA19010.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0003 a0001c0006t0001	a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0001g0221 others(8): Show a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0001g0221 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0004t0003g0147 a0001c0006t0001g0204 a0001c0006t0001g0267	11	326	0.0337	10	c.42+ others(25): Show c.42+3547_42+3556dupAAAAAAAAAA		BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	1/6						chr14	TogoVar
BEND2_chrX_18157931_18225886	18190766	T T	TCTCACAC others(3): Show TCTCACACACA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18988.hp1 NA19063.hp1 HG03831.hp1 NA18988.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0191 a0002c0002t0001g0282 a0002c0002t0001g0163 a0002c0002t0001g0191 a0002c0002t0001g0282	3	295	0.0102	10	c.128 others(27): Show c.1288+234_1288+235insTGTGTGTGAG		BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	8/13						chrX	TogoVar
BEND2_chrX_18157931_18225886	18190766	T T	TCTCTCTC others(3): Show TCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0017 a0003c0005t0017	a0003c0005t0017g0208 a0003c0005t0017g0208	1	295	0.0034	10	c.128 others(27): Show c.1288+234_1288+235insTGTGAGAGAG		BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	8/13						chrX	TogoVar
BEND2_chrX_18157931_18225886	18193329	A A	AAAAAGAA others(3): Show AAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02451.hp2 HG02683.hp1 others(2): Show HG02129.hp1 HG02451.hp2 HG02683.hp1 NA19011.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0222 a0001c0001t0002g0042 a0001c0001t0002g0210 others(2): Show a0001c0001t0001g0222 a0001c0001t0002g0042 a0001c0001t0002g0210 a0001c0001t0002g0227 a0001c0001t0002g0235	5	295	0.0170	10	c.118 others(29): Show c.1180+1957_1180+1966dupCTTTTCTTTT		BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	7/13						chrX	TogoVar
BEND2_chrX_18157931_18225886	18194972	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20129.hp2 HG03225.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0192 a0002c0002t0001g0194	2	295	0.0068	10	c.118 others(27): Show c.1180+314_1180+323dupGTGTGTGTGT		BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	7/13						chrX	TogoVar
BEND3_chr6_107060182_107120515	107109442	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01975.hp1 HG02723.hp1 others(8): Show HG01257.hp2 HG01975.hp1 HG02723.hp1 HG03225.hp2 HG03453.hp1 HG03669.hp1 NA18954.hp2 NA18977.hp2 NA18991.hp2 NA19060.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0024 a0001c0002t0001 a0001c0004t0016	a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0003g0307 others(8): Show a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0003g0307 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0015g0047 a0001c0001t0015g0048 a0001c0001t0024g0325 a0001c0002t0001g0249 a0001c0002t0001g0269 a0001c0004t0016g0336	11	368	0.0299	10	c.-12 others(27): Show c.-12+5638_-12+5647dupTTTTTTTTTT		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	1/3						chr6	TogoVar
BEND5_chr1_48722519_48781891	48762614	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0139 a0002c0007t0002g0139	1	342	0.0029	10	c.227 others(27): Show c.227-1154_227-1145dupCACACACACA		BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5						chr1	TogoVar

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