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
COL9A3_chr20_62812050_62846159	62836439	GCCGCCCC others(5): Show GCCGCCCCCATGC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0130 a0001c0007t0002g0130	1	412	0.0024	-12	c.154 others(27): Show c.1549-38_1549-27delCCGCCCCCATGC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	28/31			chr20	TogoVar
COLEC10_chr8_119062247_119113455	119070437	TTCTCCCT others(5): Show TTCTCCCTCGCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02622.hp1 others(8): Show HG01243.hp1 HG02258.hp2 HG02622.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03540.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0021 a0001c0006t0001	a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 others(8): Show a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0007g0063 a0001c0001t0008g0366 a0001c0001t0008g0368 a0001c0001t0021g0367 a0001c0006t0001g0070	11	388	0.0284	-12	c.148 others(29): Show c.148+3013_148+3024delCCTCGCTCTCTC	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119078990	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG01070.hp1 others(45): Show HG00280.hp2 HG00609.hp2 HG01070.hp1 HG01071.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02280.hp1 HG02647.hp1 HG02886.hp2 HG03453.hp2 HG03579.hp1 HG03927.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp2 NA18973.hp1 NA18978.hp2 NA18997.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0022	a0001c0001t0002g0100 a0001c0001t0003g0001 a0001c0001t0003g0003 others(39): Show a0001c0001t0002g0100 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0167 a0001c0001t0003g0259 a0001c0001t0003g0342 a0001c0001t0005g0194 a0001c0001t0011g0040 a0001c0001t0022g0262	48	388	0.1237	-12	c.149 others(31): Show c.149-10647_149-10636delACACACACACAC	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091591	GAGAGAGA others(5): Show GAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0074 a0001c0001t0008g0074	1	388	0.0026	-12	c.292 others(27): Show c.292+375_292+386delGAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	GAGAAAGA others(5): Show GAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp1 others(143): Show HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18949.hp1 NA18951.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp2 NA19003.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0002t0004 a0003c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(133): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0224 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0369 a0001c0001t0004g0002 a0001c0001t0004g0009 a0001c0001t0004g0180 a0001c0001t0004g0202 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0216 a0001c0001t0004g0239 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0160 a0001c0001t0006g0170 a0001c0001t0006g0171 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0006g0181 a0001c0001t0006g0184 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0007g0010 a0001c0001t0007g0063 a0001c0001t0007g0201 a0001c0001t0007g0217 a0001c0001t0007g0229 a0001c0001t0007g0234 a0001c0001t0010g0295 a0001c0001t0013g0310 a0001c0001t0014g0331 a0001c0001t0017g0088 a0001c0001t0018g0339 a0001c0001t0022g0262 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0004g0162 a0001c0002t0004g0168 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0236 a0003c0005t0001g0161 a0003c0005t0001g0188	146	388	0.3763	-12	c.292 others(27): Show c.292+405_292+416delGAAAGAAAGAAA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119102206	TCCTTCCT others(5): Show TCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp1 others(132): Show HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18949.hp1 NA18951.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19003.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0005 a0001c0001 a0001c0006 a0003c0005	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0006t0001 a0003c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(125): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0242 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0369 a0001c0001t0010g0295 a0001c0001t0010g0324 a0001c0001t0013g0310 a0001c0001t0014g0331 a0001c0001t0017g0088 a0001c0001t0018g0339 a0001c0001t0019g0073 a0001c0006t0001g0070 a0003c0005t0001g0161 a0003c0005t0001g0188	135	388	0.3479	-12	c.293 others(27): Show c.293-138_293-127delTCCTCCCTCCCT	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3592298	GGACGGGG others(5): Show GGACGGGGACGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	378	0.0027	-12	c.-28 others(23): Show c.-2896_-2885delGACGGGGACGGA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2813		chr2	TogoVar
COLEC12_chr18_311737_505701	315232	TCACACAC others(5): Show TCACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG03041.hp1 HG03139.hp2 others(1): Show HG02683.hp2 HG03041.hp1 HG03139.hp2 HG04228.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0002c0007 others(1): Show a0001c0003 a0001c0004 a0002c0007 a0003c0002	a0001c0003t0189 a0001c0004t0043 a0002c0007t0132 others(1): Show a0001c0003t0189 a0001c0004t0043 a0002c0007t0132 a0003c0002t0043	a0001c0003t0189g0190 a0001c0004t0043g0116 a0002c0007t0132g0041 others(1): Show a0001c0003t0189g0190 a0001c0004t0043g0116 a0002c0007t0132g0041 a0003c0002t0043g0334	4	366	0.0109	-12	c.48 others(23): Show c.4801_*4812delTGTGTGTGTGTG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1504		chr18	TogoVar
COLEC12_chr18_311737_505701	319331	AAAAAAAA others(5): Show AAAAAAAAAAAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0196 a0002c0001t0196	a0002c0001t0196g0132 a0002c0001t0196g0132	1	366	0.0027	-12	c.70 others(21): Show c.702_*713delATTTTTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	702		chr18	TogoVar
COLEC12_chr18_311737_505701	419203	ATTCTATT others(5): Show ATTCTATTCTAAT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0127 a0003c0002t0127	a0003c0002t0127g0163 a0003c0002t0127g0163	1	366	0.0027	-12	c.58+ others(29): Show c.58+61492_58+61503delATTAGAATAGAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	442000	TCTACACA others(5): Show TCTACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0214 a0002c0001t0214	a0002c0001t0214g0213 a0002c0001t0214g0213	1	366	0.0027	-12	c.58+ others(29): Show c.58+38695_58+38706delGTGTGTGTGTAG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	442002	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG03139.hp1 others(1): Show HG00735.hp2 HG01884.hp2 HG03139.hp1 HG03710.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0002 a0001c0003 a0001c0004 a0003c0002	a0001c0003t0153 a0001c0004t0225 a0003c0002t0054 others(1): Show a0001c0003t0153 a0001c0004t0225 a0003c0002t0054 a0003c0002t0252	a0001c0003t0153g0091 a0001c0004t0225g0143 a0003c0002t0054g0239 others(1): Show a0001c0003t0153g0091 a0001c0004t0225g0143 a0003c0002t0054g0239 a0003c0002t0252g0360	4	366	0.0109	-12	c.58+ others(29): Show c.58+38693_58+38704delGTGTGTGTGTGT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	481325	GGGACCAA others(5): Show GGGACCAACCGAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00738.hp1 others(17): Show HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp1 HG03239.hp2 HG04228.hp1 NA18952.hp2 NA18964.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0003 a0001c0004 a0001c0008 others(5): Show a0001c0003 a0001c0004 a0001c0008 a0001c0023 a0002c0001 a0003c0002 a0005c0019 a0008c0015	a0001c0003t0068 a0001c0003t0087 a0001c0004t0005 others(15): Show a0001c0003t0068 a0001c0003t0087 a0001c0004t0005 a0001c0004t0225 a0001c0004t0243 a0001c0008t0017 a0001c0023t0172 a0002c0001t0001 a0002c0001t0003 a0002c0001t0015 a0002c0001t0048 a0002c0001t0206 a0002c0001t0224 a0002c0001t0232 a0003c0002t0116 a0003c0002t0242 a0005c0019t0170 a0008c0015t0229	a0001c0003t0068g0108 a0001c0003t0087g0053 a0001c0004t0005g0112 others(16): Show a0001c0003t0068g0108 a0001c0003t0087g0053 a0001c0004t0005g0112 a0001c0004t0225g0143 a0001c0004t0243g0275 a0001c0008t0017g0350 a0001c0008t0017g0351 a0001c0023t0172g0107 a0002c0001t0001g0052 a0002c0001t0003g0274 a0002c0001t0015g0242 a0002c0001t0048g0001 a0002c0001t0206g0138 a0002c0001t0224g0158 a0002c0001t0232g0321 a0003c0002t0116g0020 a0003c0002t0242g0110 a0005c0019t0170g0244 a0008c0015t0229g0250	20	366	0.0546	-12	c.8-5 others(23): Show c.8-580_8-569delATCGGTTGGTCC	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/9			chr18	TogoVar
COLEC12_chr18_311737_505701	504216	AGGCCATG others(5): Show AGGCCATGAATTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0035 a0002c0001t0035	a0002c0001t0035g0181 a0002c0001t0035g0181	1	366	0.0027	-12	c.-37 others(23): Show c.-3714_-3703delGAATTCATGGCC	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		3516		chr18	TogoVar
COLGALT1_chr19_17550649_17588157	17552913	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	396	0.0025	-12	c.-28 others(23): Show c.-2800_-2789delAAATAAATAAAT	COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding		2735		chr19	TogoVar
COLGALT1_chr19_17550649_17588157	17586536	ATGTTCAT others(5): Show ATGTTCATAGTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0131 a0001c0005t0012g0131	1	396	0.0025	-12	c.50 others(23): Show c.5093_*5104delTGTTCATAGTGC	COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding		3380		chr19	TogoVar
COLGALT2_chr1_183930834_184042728	183952126	ACCATAGA others(5): Show ACCATAGAAGTAT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0305 a0001c0001t0007g0305	1	340	0.0029	-12	c.103 others(31): Show c.1030-1025_1030-1014delATACTTCTATGG	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	7/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	183977812	AAGAGAGA others(5): Show AAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02622.hp1 others(9): Show HG02280.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0004 a0012c0017 a0001c0001 a0001c0004 a0012c0017	a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 others(3): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0004t0013 a0001c0004t0036 a0012c0017t0013	a0001c0001t0009g0226 a0001c0001t0009g0314 a0001c0001t0010g0296 others(9): Show a0001c0001t0009g0226 a0001c0001t0009g0314 a0001c0001t0010g0296 a0001c0001t0012g0295 a0001c0001t0012g0313 a0001c0001t0012g0321 a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0001t0012g0332 a0001c0004t0013g0333 a0001c0004t0036g0234 a0012c0017t0013g0315	12	340	0.0353	-12	c.374 others(27): Show c.374+586_374+597delCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184031817	ATCCTTCC others(5): Show ATCCTTCCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18992.hp2 HG02559.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0151 a0001c0001t0008g0091 a0001c0001t0007g0151 a0001c0001t0008g0091	2	340	0.0059	-12	c.263 others(29): Show c.263+5266_263+5277delAGGAAGGAAGGA	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
COLQ_chr3_15445133_15526706	15465232	TTTGATTT others(5): Show TTTGATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp1 HG06807.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0005 a0001c0001t0003 a0002c0002t0005	a0001c0001t0003g0073 a0002c0002t0005g0249 a0001c0001t0003g0073 a0002c0002t0005g0249	2	382	0.0052	-12	c.814 others(29): Show c.814+1097_814+1108delTAAATAAATCAA	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	12/16			chr3	TogoVar
COMMD10_chr5_116080025_116298287	116251266	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0197	1	350	0.0029	-12	c.511 others(31): Show c.511-40224_511-40213delTATTTATTTATT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	61963190	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	286	0.0035	-12	c.181 others(31): Show c.181-37491_181-37480delCACACACACACA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	61996314	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	286	0.0035	-12	c.181 others(29): Show c.181-4355_181-4344delGTGTGTGTGTGT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62014542	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	286	0.0035	-12	c.462 others(31): Show c.462+13586_462+13597delTTTTTTTTTTTT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62063868	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG02922.hp1 others(7): Show HG01261.hp1 HG02451.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0001g0230 a0001c0001t0001g0232 others(7): Show a0001c0001t0001g0093 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229	10	286	0.0350	-12	c.462 others(31): Show c.462+62905_462+62916delATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62076193	AAACACTG others(5): Show AAACACTGTGTAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	286	0.0035	-12	c.463 others(31): Show c.463-59636_463-59625delACACTGTGTAGA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62130162	AAAAAAAA others(5): Show AAAAAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19000.hp1 NA19057.hp1 NA18952.hp2 NA19000.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0095	3	286	0.0105	-12	c.463 others(29): Show c.463-5654_463-5643delAAAAACAAACAA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62139053	GGAGAGAG others(5): Show GGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	286	0.0035	-12	c.31 others(23): Show c.3113_*3124delGAGAGAGAGAGA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding		2996		chr2	TogoVar
COMMD6_chr13_75520214_75542841	75528001	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp2 HG02451.hp2 others(10): Show HG01099.hp2 HG02109.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0109 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0011g0120	13	396	0.0328	-12	c.208 others(29): Show c.208-1374_208-1363delTGTGTGTGTGTG	COMMD6	ENSG00000188243.14	transcript	ENST00000682242.1	protein_coding	3/3			chr13	TogoVar
COMMD7_chr20_32697699_32748467	32723090	CTCTCCCT others(5): Show CTCTCCCTCTCCG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp2 HG00738.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0181 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0181	3	400	0.0075	-12	c.241 others(29): Show c.241+4791_241+4802delCGGAGAGGGAGA	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8			chr20	TogoVar
COMMD8_chr4_47445787_47468702	47456262	TTATACAT others(5): Show TTATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG03516.hp2 HG02258.hp2 HG02280.hp2 HG03516.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0025 a0002c0005t0002g0025	3	396	0.0076	-12	c.375 others(27): Show c.375+303_375+314delTATATATGTATA	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding	3/4			chr4	TogoVar
COMMD8_chr4_47445787_47468702	47456267	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00639.hp2 others(63): Show HG00280.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp1 HG01069.hp2 HG01109.hp1 HG01123.hp1 HG01256.hp2 HG01346.hp2 HG01515.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02258.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18947.hp1 NA18948.hp2 NA18953.hp1 NA18961.hp2 NA18965.hp2 NA18971.hp1 NA18978.hp1 NA18980.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA19000.hp2 NA19055.hp2 NA19070.hp1 NA19077.hp2 NA19083.hp1 NA20805.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0011 a0006c0008t0001 a0001c0001t0001 a0001c0001t0011 a0006c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0113 a0001c0001t0011g0059 a0006c0008t0001g0062	66	396	0.1667	-12	c.375 others(27): Show c.375+298_375+309delATATATATATAT	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding	3/4			chr4	TogoVar
COMMD8_chr4_47445787_47468702	47467312	AAATAATG others(5): Show AAATAATGTACAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	396	0.0025	-12	c.-36 others(23): Show c.-3673_-3662delATGTACATTATT	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding		3611		chr4	TogoVar
COMMD9_chr11_36267292_36294424	36284104	TCAACAAC others(5): Show TCAACAACAACAA	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19083.hp2 NA18964.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0217 a0001c0001t0003g0219	2	448	0.0045	-12	c.52- others(27): Show c.52-3279_52-3268delTTGTTGTTGTTG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMP_chr19_18777773_18796305	18787864	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01358.hp2 HG00741.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	398	0.0050	-12	c.976 others(27): Show c.976-226_976-215delAAGAAAGAAAGA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COMTD1_chr10_75228641_75240957	75231553	ACCTAAAT others(5): Show ACCTAAATCTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02015.hp1 HG02300.hp2 others(1): Show HG01192.hp1 HG02015.hp1 HG02300.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	410	0.0098	-12	c.25 others(23): Show c.2508_*2519delCACAGATTTAGG	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		2087		chr10	TogoVar
COMT_chr22_19936772_19974975	19952950	CAAAAAAT others(5): Show CAAAAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0317 a0001c0002t0003g0317	1	426	0.0024	-12	c.-91 others(29): Show c.-91-8246_-91-8235delAAAATAAATAAA	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COMT_chr22_19936772_19974975	19952953	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(110): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02129.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG03239.hp2 HG03486.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0002c0001 a0002c0007 a0002c0011 a0003c0006 a0005c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(24): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0002t0015 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0016 a0001c0004t0001 a0001c0004t0004 a0001c0004t0013 a0001c0005t0006 a0001c0005t0030 a0001c0008t0001 a0001c0008t0003 a0001c0008t0005 a0001c0009t0002 a0001c0009t0018 a0002c0001t0001 a0002c0001t0007 a0002c0001t0022 a0002c0007t0005 a0002c0011t0001 a0003c0006t0002 a0005c0014t0001	a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0023 others(102): Show a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0126 a0001c0002t0001g0258 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0331 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0001g0348 a0001c0002t0001g0349 a0001c0002t0001g0350 a0001c0002t0001g0354 a0001c0002t0001g0356 a0001c0002t0001g0357 a0001c0002t0001g0358 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0365 a0001c0002t0001g0367 a0001c0002t0001g0369 a0001c0002t0001g0372 a0001c0002t0001g0378 a0001c0002t0001g0380 a0001c0002t0001g0384 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0329 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0373 a0001c0002t0002g0375 a0001c0002t0002g0376 a0001c0002t0002g0381 a0001c0002t0002g0389 a0001c0002t0003g0067 a0001c0002t0003g0140 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0002t0006g0303 a0001c0002t0010g0325 a0001c0002t0015g0366 a0001c0003t0001g0165 a0001c0003t0002g0022 a0001c0003t0002g0328 a0001c0003t0002g0332 a0001c0003t0002g0359 a0001c0003t0002g0368 a0001c0003t0005g0016 a0001c0003t0016g0016 a0001c0004t0001g0271 a0001c0004t0004g0385 a0001c0004t0004g0386 a0001c0004t0004g0387 a0001c0004t0004g0388 a0001c0004t0013g0251 a0001c0005t0006g0184 a0001c0005t0030g0038 a0001c0008t0001g0206 a0001c0008t0001g0214 a0001c0008t0003g0390 a0001c0008t0005g0208 a0001c0009t0002g0370 a0001c0009t0018g0267 a0002c0001t0001g0002 a0002c0001t0001g0017 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0247 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0276 a0002c0001t0001g0280 a0002c0001t0001g0351 a0002c0001t0007g0002 a0002c0001t0007g0245 a0002c0001t0007g0246 a0002c0001t0007g0248 a0002c0001t0007g0259 a0002c0001t0007g0265 a0002c0001t0007g0379 a0002c0001t0022g0266 a0002c0007t0005g0124 a0002c0011t0001g0313 a0003c0006t0002g0339 a0005c0014t0001g0207	113	426	0.2653	-12	c.-91 others(29): Show c.-91-8202_-91-8191delTAAATAAATAAA	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COP1_chr1_175939831_176212286	175966280	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03041.hp1 HG01981.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0095 a0001c0001t0003g0292 a0001c0001t0001g0095 a0001c0001t0003g0292	2	300	0.0067	-12	c.213 others(33): Show c.2134-19053_2134-19042delGTGTGTGTGTGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175967488	AAAACAAA others(5): Show AAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00597.hp1 others(213): Show HG00099.hp2 HG00140.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0002c0003 a0003c0004 others(3): Show a0001c0001 a0002c0003 a0003c0004 a0004c0005 a0005c0007 a0007c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0002c0003t0001 a0003c0004t0001 a0004c0005t0001 a0005c0007t0001 a0007c0009t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(213): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0006g0001 a0001c0001t0007g0002 a0001c0001t0009g0059 a0001c0001t0010g0098 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0003c0004t0001g0189 a0003c0004t0001g0195 a0003c0004t0001g0226 a0003c0004t0001g0227 a0004c0005t0001g0031 a0005c0007t0001g0215 a0007c0009t0001g0247	216	300	0.7200	-12	c.213 others(33): Show c.2133+19443_2133+19454delGTTTGTTTGTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176007771	TCTGCAGA others(5): Show TCTGCAGAGGTTA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	300	0.0033	-12	c.173 others(33): Show c.1730-18304_1730-18293delTAACCTCTGCAG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176019463	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp1 HG01433.hp1 others(14): Show HG01109.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02145.hp2 HG02293.hp1 HG02300.hp1 HG02647.hp1 HG04184.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0003g0282 others(14): Show a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298	17	300	0.0567	-12	c.172 others(31): Show c.1729+8097_1729+8108delATTATTATTATT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176099505	GTCTCTCT others(5): Show GTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02451.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG02451.hp1 HG02630.hp1 HG02970.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0012 a0002c0003t0001 a0001c0006t0012 a0002c0003t0001	a0001c0006t0012g0268 a0002c0003t0001g0262 a0002c0003t0001g0263 others(3): Show a0001c0006t0012g0268 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266	6	300	0.0200	-12	c.102 others(33): Show c.1027-13627_1027-13616delGAGAGAGAGAGA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	9/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176133214	ATACGTAT others(5): Show ATACGTATATACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00597.hp1 others(115): Show HG00099.hp2 HG00140.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0003c0004 a0005c0007 others(1): Show a0001c0001 a0003c0004 a0005c0007 a0007c0009	a0001c0001t0001 a0001c0001t0006 a0003c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0003c0004t0001 a0005c0007t0001 a0007c0009t0001	a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0144 others(115): Show a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0006g0001 a0003c0004t0001g0189 a0003c0004t0001g0195 a0003c0004t0001g0226 a0003c0004t0001g0227 a0005c0007t0001g0215 a0007c0009t0001g0247	118	300	0.3933	-12	c.968 others(29): Show c.968+1784_968+1795delCGTATATACGTA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176151353	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00738.hp1 others(13): Show HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01167.hp1 HG01891.hp2 HG01981.hp2 HG02145.hp1 HG02886.hp1 HG02965.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 NA19011.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0057 others(13): Show a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0138 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0003g0292	16	300	0.0533	-12	c.763 others(29): Show c.763-2291_763-2280delCTTTCTTTCTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176165361	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	300	0.0033	-12	c.566 others(29): Show c.566-1482_566-1471delACACACACACAC	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176167406	CTGAATGA others(5): Show CTGAATGAATGAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	300	0.0033	-12	c.566 others(29): Show c.566-3527_566-3516delTTCATTCATTCA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COPA_chr1_160283594_160348250	160300344	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03834.hp2 NA18942.hp2 others(6): Show HG02257.hp1 HG03834.hp2 NA18942.hp2 NA18979.hp1 NA18991.hp2 NA18992.hp1 NA19068.hp2 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0013	a0001c0001t0006 a0001c0001t0013 a0001c0002t0002 others(2): Show a0001c0001t0006 a0001c0001t0013 a0001c0002t0002 a0002c0003t0006 a0002c0013t0006	a0001c0001t0006g0287 a0001c0001t0013g0189 a0001c0002t0002g0113 others(6): Show a0001c0001t0006g0287 a0001c0001t0013g0189 a0001c0002t0002g0113 a0002c0003t0006g0190 a0002c0003t0006g0192 a0002c0003t0006g0193 a0002c0003t0006g0195 a0002c0003t0006g0198 a0002c0013t0006g0077	9	366	0.0246	-12	c.166 others(31): Show c.1668-1092_1668-1081delATTTATTTATTT	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	17/32			chr1	TogoVar
COPA_chr1_160283594_160348250	160318480	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(59): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp2 HG01978.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02572.hp2 HG03017.hp1 HG03017.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG04184.hp2 HG04204.hp1 NA18906.hp2 NA18942.hp1 NA18949.hp1 NA18951.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18971.hp1 NA18977.hp1 NA18981.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19086.hp2 NA19088.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0004g0064 a0001c0001t0005g0005 a0001c0001t0005g0039 a0001c0001t0005g0043 a0001c0001t0005g0045 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0017g0201	62	366	0.1694	-12	c.707 others(29): Show c.707-4367_707-4356delGTTTTTTTTTTT	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	8/32			chr1	TogoVar
COPB1_chr11_14452512_14504811	14465062	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01256.hp2 HG01258.hp1 others(1): Show HG01106.hp2 HG01256.hp2 HG01258.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0176 a0001c0001t0001g0246	4	386	0.0104	-12	c.229 others(27): Show c.2291-44_2291-33delGTGTGTGTGTGT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	17/21			chr11	TogoVar

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