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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COLEC10_chr8_119062247_119113455	119079761	C C	CAGTTGTT others(1): Show CAGTTGTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01070.hp2 others(52): Show HG00099.hp1 HG00140.hp1 HG01070.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0002t0004 a0001c0003t0004 a0001c0007t0003	a0001c0001t0001g0072 a0001c0001t0001g0163 a0001c0001t0001g0164 others(49): Show a0001c0001t0001g0072 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0004g0002 a0001c0001t0004g0009 a0001c0001t0004g0180 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0216 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0212 a0001c0001t0005g0219 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0005g0228 a0001c0001t0005g0235 a0001c0001t0007g0229 a0001c0001t0008g0074 a0001c0001t0012g0221 a0001c0001t0017g0088 a0001c0001t0021g0367 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0004g0162 a0001c0002t0004g0168 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0236 a0001c0003t0004g0159 a0001c0003t0004g0206 a0001c0003t0004g0214 a0001c0003t0004g0215 a0001c0003t0004g0220 a0001c0003t0004g0226 a0001c0003t0004g0227 a0001c0007t0003g0200	55	388	0.1418	8	c.149 others(25): Show c.149-9918_149-9911dupAGTTGTTT	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091573	A A	AAGAAAGA others(1): Show AAGAAAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01071.hp2 others(16): Show HG00280.hp2 HG01070.hp1 HG01071.hp2 HG01257.hp2 HG01258.hp2 HG02280.hp1 HG03453.hp2 HG03579.hp1 NA18945.hp2 NA18952.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19058.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0021 others(13): Show a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0028 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0259	19	388	0.0490	8	c.292 others(23): Show c.292+356_292+357insAAGAGAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02027.hp1 NA19002.hp1 HG01255.hp1 HG02027.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0248 a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0248	3	388	0.0077	8	c.292 others(23): Show c.292+409_292+416dupGAAAGAAA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3607449	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01433.hp1 others(15): Show HG00735.hp2 HG01106.hp1 HG01433.hp1 HG01934.hp2 HG01981.hp2 HG02015.hp2 HG02074.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG03453.hp1 HG03453.hp2 HG03710.hp1 HG03710.hp2 NA18985.hp2 NA19060.hp1 NA19066.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0004 a0006c0013 a0001c0001 a0002c0004 a0006c0013	a0001c0001t0001 a0002c0004t0001 a0006c0013t0001 a0001c0001t0001 a0002c0004t0001 a0006c0013t0001	a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0107 others(15): Show a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0241 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0287 a0001c0001t0001g0306 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0344 a0001c0001t0001g0349 a0002c0004t0001g0286 a0006c0013t0001g0260	18	378	0.0476	8	c.130 others(25): Show c.130+2987_130+2994dupTTTTTTTT	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3612224	A A	ACCCACAT others(1): Show ACCCACATG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03225.hp1 HG03516.hp1 HG02683.hp1 HG03225.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0035 a0002c0002t0001g0062 a0002c0006t0001g0315 a0002c0002t0001g0035 a0002c0002t0001g0062 a0002c0006t0001g0315	3	378	0.0079	8	c.131 others(25): Show c.131-1086_131-1085insCCACATGC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3619147	A A	ATCCCTCC others(1): Show ATCCCTCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG03579.hp2 HG02647.hp1 HG02886.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0319 a0001c0001t0001g0323 a0002c0002t0001g0191 a0001c0001t0001g0319 a0001c0001t0001g0323 a0002c0002t0001g0191	3	378	0.0079	8	c.202 others(25): Show c.202+5769_202+5776dupCTCCCTCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3625625	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00741.hp1 others(53): Show HG00099.hp1 HG00423.hp2 HG00741.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG02004.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18944.hp2 NA18959.hp1 NA18971.hp2 NA18983.hp1 NA19043.hp2 NA19057.hp1 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0003c0012 a0005c0011	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001 a0003c0012t0001 a0005c0011t0001	a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0001t0001g0108 others(51): Show a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0184 a0001c0001t0001g0249 a0001c0001t0001g0287 a0001c0001t0001g0312 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0354 a0001c0001t0001g0365 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0222 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0310 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0341 a0002c0003t0001g0171 a0002c0003t0001g0197 a0002c0003t0001g0223 a0002c0003t0001g0233 a0002c0003t0001g0334 a0002c0004t0001g0214 a0002c0004t0001g0263 a0002c0004t0001g0286 a0002c0004t0001g0289 a0002c0004t0001g0317 a0002c0004t0001g0326 a0002c0005t0001g0362 a0003c0012t0001g0358 a0005c0011t0001g0032	56	378	0.1482	8	c.203 others(27): Show c.203-11896_203-11889dupTTTTTTTT	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	319337	A A	AATATATA others(1): Show AATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp2 NA18982.hp1 NA18995.hp2 others(3): Show NA18968.hp2 NA18982.hp1 NA18995.hp2 NA19006.hp1 NA19082.hp2 NA19090.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0123 a0002c0001t0125 a0003c0002t0030 others(2): Show a0002c0001t0123 a0002c0001t0125 a0003c0002t0030 a0003c0002t0122 a0003c0002t0124	a0002c0001t0123g0296 a0002c0001t0125g0299 a0003c0002t0030g0061 others(3): Show a0002c0001t0123g0296 a0002c0001t0125g0299 a0003c0002t0030g0061 a0003c0002t0030g0094 a0003c0002t0122g0252 a0003c0002t0124g0114	6	366	0.0164	8	c.70 others(17): Show c.707_*708insATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	707		chr18	TogoVar
COLEC12_chr18_311737_505701	322193	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp1 HG01975.hp2 HG00642.hp1 HG01175.hp1 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0061 a0001c0003t0002 a0001c0003t0061	a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0061g0292 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0061g0292	3	366	0.0082	8	c.206 others(25): Show c.2064-394_2064-387dupGTGTGTGT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	8/9			chr18	TogoVar
COLEC12_chr18_311737_505701	340074	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01261.hp1 others(11): Show HG00735.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG03098.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03688.hp2 HG04184.hp2 HG06807.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0004 a0002c0001 a0003c0002 others(2): Show a0001c0004 a0002c0001 a0003c0002 a0004c0006 a0006c0009	a0001c0004t0005 a0001c0004t0059 a0001c0004t0225 others(9): Show a0001c0004t0005 a0001c0004t0059 a0001c0004t0225 a0001c0004t0243 a0002c0001t0019 a0003c0002t0053 a0003c0002t0099 a0003c0002t0193 a0003c0002t0226 a0004c0006t0185 a0004c0006t0207 a0006c0009t0009	a0001c0004t0005g0014 a0001c0004t0005g0137 a0001c0004t0005g0223 others(11): Show a0001c0004t0005g0014 a0001c0004t0005g0137 a0001c0004t0005g0223 a0001c0004t0059g0155 a0001c0004t0225g0143 a0001c0004t0243g0275 a0002c0001t0019g0008 a0003c0002t0053g0003 a0003c0002t0099g0233 a0003c0002t0193g0115 a0003c0002t0226g0338 a0004c0006t0185g0313 a0004c0006t0207g0312 a0006c0009t0009g0083	14	366	0.0383	8	c.132 others(27): Show c.1328-4852_1328-4845dupTTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	5/9			chr18	TogoVar
COLEC12_chr18_311737_505701	442002	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02723.hp1 HG03927.hp2 others(1): Show HG01106.hp2 HG02723.hp1 HG03927.hp2 NA18975.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0005 a0003c0022 a0001c0004 a0001c0005 a0003c0022	a0001c0004t0036 a0001c0005t0016 a0001c0005t0250 others(1): Show a0001c0004t0036 a0001c0005t0016 a0001c0005t0250 a0003c0022t0044	a0001c0004t0036g0315 a0001c0005t0016g0141 a0001c0005t0250g0354 others(1): Show a0001c0004t0036g0315 a0001c0005t0016g0141 a0001c0005t0250g0354 a0003c0022t0044g0021	4	366	0.0109	8	c.58+ others(25): Show c.58+38697_58+38704dupGTGTGTGT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	475076	A A	AAAAAAAA others(1): Show AAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(81): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03579.hp2 HG03704.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18954.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19054.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0010	a0001c0003 a0001c0004 a0001c0005 others(7): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0002c0007 a0003c0002 a0003c0013 a0004c0006 a0006c0009 a0010c0020	a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 others(72): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0001c0003t0018 a0001c0003t0027 a0001c0003t0038 a0001c0003t0042 a0001c0003t0056 a0001c0003t0058 a0001c0003t0080 a0001c0003t0093 a0001c0003t0098 a0001c0003t0151 a0001c0003t0186 a0001c0003t0189 a0001c0004t0024 a0001c0004t0037 a0001c0004t0039 a0001c0004t0157 a0001c0004t0239 a0001c0005t0029 a0001c0005t0077 a0001c0005t0081 a0001c0005t0220 a0002c0001t0001 a0002c0001t0003 a0002c0001t0015 a0002c0001t0019 a0002c0001t0020 a0002c0001t0023 a0002c0001t0037 a0002c0001t0044 a0002c0001t0070 a0002c0001t0072 a0002c0001t0103 a0002c0001t0136 a0002c0001t0137 a0002c0001t0160 a0002c0001t0195 a0002c0001t0222 a0002c0001t0241 a0002c0007t0001 a0002c0007t0026 a0002c0007t0045 a0002c0007t0176 a0003c0002t0001 a0003c0002t0002 a0003c0002t0010 a0003c0002t0011 a0003c0002t0018 a0003c0002t0024 a0003c0002t0028 a0003c0002t0030 a0003c0002t0033 a0003c0002t0041 a0003c0002t0043 a0003c0002t0066 a0003c0002t0109 a0003c0002t0118 a0003c0002t0122 a0003c0002t0135 a0003c0002t0139 a0003c0002t0144 a0003c0002t0200 a0003c0002t0209 a0003c0002t0211 a0003c0013t0164 a0004c0006t0107 a0004c0006t0108 a0006c0009t0009 a0006c0009t0094 a0010c0020t0213	a0001c0003t0002g0124 a0001c0003t0003g0352 a0001c0003t0004g0056 others(81): Show a0001c0003t0002g0124 a0001c0003t0003g0352 a0001c0003t0004g0056 a0001c0003t0006g0018 a0001c0003t0008g0236 a0001c0003t0012g0284 a0001c0003t0018g0100 a0001c0003t0027g0104 a0001c0003t0038g0016 a0001c0003t0042g0343 a0001c0003t0056g0174 a0001c0003t0058g0089 a0001c0003t0080g0060 a0001c0003t0093g0306 a0001c0003t0098g0160 a0001c0003t0151g0289 a0001c0003t0186g0339 a0001c0003t0189g0190 a0001c0004t0024g0017 a0001c0004t0037g0314 a0001c0004t0039g0173 a0001c0004t0157g0212 a0001c0004t0239g0326 a0001c0005t0029g0287 a0001c0005t0029g0316 a0001c0005t0077g0304 a0001c0005t0081g0147 a0001c0005t0220g0340 a0002c0001t0001g0099 a0002c0001t0001g0272 a0002c0001t0001g0290 a0002c0001t0003g0136 a0002c0001t0003g0150 a0002c0001t0015g0175 a0002c0001t0015g0176 a0002c0001t0019g0308 a0002c0001t0020g0191 a0002c0001t0023g0065 a0002c0001t0037g0081 a0002c0001t0044g0241 a0002c0001t0070g0067 a0002c0001t0072g0066 a0002c0001t0103g0200 a0002c0001t0136g0305 a0002c0001t0137g0310 a0002c0001t0160g0054 a0002c0001t0195g0140 a0002c0001t0222g0346 a0002c0001t0241g0188 a0002c0007t0001g0087 a0002c0007t0026g0177 a0002c0007t0045g0238 a0002c0007t0176g0353 a0003c0002t0001g0189 a0003c0002t0002g0059 a0003c0002t0010g0282 a0003c0002t0010g0319 a0003c0002t0011g0032 a0003c0002t0011g0291 a0003c0002t0018g0127 a0003c0002t0024g0214 a0003c0002t0028g0074 a0003c0002t0028g0261 a0003c0002t0030g0061 a0003c0002t0030g0094 a0003c0002t0033g0309 a0003c0002t0041g0307 a0003c0002t0043g0334 a0003c0002t0066g0235 a0003c0002t0109g0090 a0003c0002t0118g0103 a0003c0002t0122g0252 a0003c0002t0135g0098 a0003c0002t0139g0146 a0003c0002t0144g0093 a0003c0002t0200g0332 a0003c0002t0209g0120 a0003c0002t0211g0113 a0003c0013t0164g0247 a0004c0006t0107g0348 a0004c0006t0108g0347 a0006c0009t0009g0083 a0006c0009t0094g0139 a0010c0020t0213g0154	84	366	0.2295	8	c.58+ others(23): Show c.58+5630_58+5631insATTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	475076	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02015.hp2 HG02486.hp1 others(17): Show HG01167.hp2 HG02015.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0004 a0001c0005 others(3): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0003c0002 a0004c0006	a0001c0003t0009 a0001c0004t0191 a0001c0005t0079 others(16): Show a0001c0003t0009 a0001c0004t0191 a0001c0005t0079 a0001c0005t0218 a0001c0005t0247 a0001c0005t0248 a0001c0005t0255 a0002c0001t0073 a0002c0001t0145 a0002c0001t0198 a0003c0002t0010 a0003c0002t0031 a0003c0002t0033 a0003c0002t0193 a0003c0002t0226 a0004c0006t0055 a0004c0006t0128 a0004c0006t0130 a0004c0006t0207	a0001c0003t0009g0249 a0001c0004t0191g0118 a0001c0005t0079g0034 others(17): Show a0001c0003t0009g0249 a0001c0004t0191g0118 a0001c0005t0079g0034 a0001c0005t0218g0240 a0001c0005t0247g0355 a0001c0005t0248g0357 a0001c0005t0255g0358 a0002c0001t0073g0117 a0002c0001t0145g0161 a0002c0001t0198g0259 a0003c0002t0010g0043 a0003c0002t0031g0023 a0003c0002t0031g0024 a0003c0002t0033g0011 a0003c0002t0193g0115 a0003c0002t0226g0338 a0004c0006t0055g0320 a0004c0006t0128g0128 a0004c0006t0130g0193 a0004c0006t0207g0312	20	366	0.0546	8	c.58+ others(23): Show c.58+5623_58+5630dupATTTATTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	479550	T T	TCTCACAC others(1): Show TCTCACACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02622.hp1 others(4): Show HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02886.hp1 HG02922.hp1 HG03486.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0005 a0002c0001 others(1): Show a0001c0004 a0001c0005 a0002c0001 a0003c0002	a0001c0004t0191 a0001c0005t0247 a0001c0005t0248 others(4): Show a0001c0004t0191 a0001c0005t0247 a0001c0005t0248 a0002c0001t0073 a0002c0001t0198 a0003c0002t0033 a0003c0002t0193	a0001c0004t0191g0118 a0001c0005t0247g0355 a0001c0005t0248g0357 others(4): Show a0001c0004t0191g0118 a0001c0005t0247g0355 a0001c0005t0248g0357 a0002c0001t0073g0117 a0002c0001t0198g0259 a0003c0002t0033g0011 a0003c0002t0193g0115	7	366	0.0191	8	c.58+ others(23): Show c.58+1156_58+1157insTGTGTGAG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	497383	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp2 HG01106.hp2 others(11): Show HG00597.hp2 HG00738.hp2 HG01106.hp2 HG01496.hp1 HG02886.hp1 HG02922.hp2 HG03710.hp2 HG04184.hp1 NA18522.hp2 NA18990.hp1 NA18994.hp1 NA19043.hp1 NA19054.hp2 NA19068.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0004 a0002c0001 others(4): Show a0001c0003 a0001c0004 a0002c0001 a0002c0007 a0003c0002 a0003c0022 a0004c0006	a0001c0003t0042 a0001c0003t0058 a0001c0003t0153 others(11): Show a0001c0003t0042 a0001c0003t0058 a0001c0003t0153 a0001c0004t0024 a0001c0004t0191 a0002c0001t0073 a0002c0007t0001 a0003c0002t0007 a0003c0002t0022 a0003c0002t0109 a0003c0002t0116 a0003c0002t0121 a0003c0022t0044 a0004c0006t0047	a0001c0003t0042g0130 a0001c0003t0058g0089 a0001c0003t0153g0091 others(11): Show a0001c0003t0042g0130 a0001c0003t0058g0089 a0001c0003t0153g0091 a0001c0004t0024g0017 a0001c0004t0191g0118 a0002c0001t0073g0117 a0002c0007t0001g0087 a0003c0002t0007g0051 a0003c0002t0022g0077 a0003c0002t0109g0090 a0003c0002t0116g0020 a0003c0002t0121g0086 a0003c0022t0044g0021 a0004c0006t0047g0088	14	366	0.0383	8	c.7+3 others(21): Show c.7+3117_7+3124dupACACACAC	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/9			chr18	TogoVar
COLGALT1_chr19_17550649_17588157	17552913	A A	AAAATAAA others(1): Show AAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02132.hp2 HG02135.hp2 others(2): Show HG01099.hp1 HG02132.hp2 HG02135.hp2 NA18994.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0059 a0001c0001t0001 a0001c0001t0059	a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0200 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0212 a0001c0001t0059g0190	5	396	0.0126	8	c.-28 others(19): Show c.-2801_-2800insAAATAAAT	COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding		2735		chr19	TogoVar
COLGALT1_chr19_17550649_17588157	17569891	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01175.hp2 others(5): Show HG00438.hp2 HG00621.hp1 HG01175.hp2 HG02523.hp1 NA18956.hp1 NA18993.hp1 NA19000.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0014 a0001c0003 a0002c0014	a0001c0003t0004 a0001c0003t0010 a0001c0003t0011 others(3): Show a0001c0003t0004 a0001c0003t0010 a0001c0003t0011 a0001c0003t0024 a0001c0003t0025 a0002c0014t0025	a0001c0003t0004g0024 a0001c0003t0004g0084 a0001c0003t0010g0092 others(4): Show a0001c0003t0004g0024 a0001c0003t0004g0084 a0001c0003t0010g0092 a0001c0003t0011g0081 a0001c0003t0024g0089 a0001c0003t0025g0090 a0002c0014t0025g0082	8	396	0.0202	8	c.829 others(25): Show c.829+1192_829+1199dupTTTTTTTT	COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
COLGALT2_chr1_183930834_184042728	184031817	A A	ATCCTTCC others(1): Show ATCCTTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00621.hp1 others(71): Show HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp2 HG02572.hp1 HG02717.hp1 HG02735.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03834.hp1 HG03927.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18940.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18985.hp2 NA18987.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19079.hp1 NA20300.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0006c0009 a0007c0007 a0009c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0002t0002 a0001c0002t0006 a0001c0002t0026 a0001c0002t0034 a0001c0004t0003 a0001c0004t0004 a0001c0008t0018 a0006c0009t0001 a0007c0007t0001 a0009c0014t0009	a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0130 others(71): Show a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0270 a0001c0001t0001g0328 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0261 a0001c0001t0003g0269 a0001c0001t0003g0325 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0021 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0056 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0096 a0001c0001t0005g0163 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0259 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0327 a0001c0001t0007g0312 a0001c0001t0008g0041 a0001c0001t0008g0043 a0001c0001t0008g0049 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0057 a0001c0001t0008g0063 a0001c0001t0010g0326 a0001c0001t0011g0051 a0001c0001t0011g0058 a0001c0001t0013g0272 a0001c0001t0014g0059 a0001c0001t0029g0055 a0001c0001t0030g0052 a0001c0001t0035g0271 a0001c0002t0002g0125 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0162 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0006g0038 a0001c0002t0006g0042 a0001c0002t0006g0045 a0001c0002t0006g0050 a0001c0002t0006g0094 a0001c0002t0006g0098 a0001c0002t0026g0060 a0001c0002t0034g0264 a0001c0004t0003g0115 a0001c0004t0004g0093 a0001c0004t0004g0095 a0001c0008t0018g0324 a0006c0009t0001g0215 a0006c0009t0001g0216 a0007c0007t0001g0129 a0009c0014t0009g0273	74	340	0.2177	8	c.263 others(25): Show c.263+5270_263+5277dupAGGAAGGA	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184037754	A A	AGTGAGTG others(1): Show AGTGAGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG03195.hp1 others(1): Show HG02630.hp2 HG02886.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0004t0036 a0001c0001t0001 a0001c0001t0007 a0001c0004t0036	a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0007g0236 others(1): Show a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0007g0236 a0001c0004t0036g0234	4	340	0.0118	8	c.-39 others(17): Show c.-398_-397insACACTCAC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding		27		chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184037754	A A	AGTGTGTG others(1): Show AGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01884.hp1 others(10): Show HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02071.hp2 HG02895.hp2 NA18940.hp1 NA18957.hp2 NA18998.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19091.hp1 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0002t0002 a0001c0004t0001 a0007c0007t0001	a0001c0001t0001g0116 a0001c0001t0001g0186 a0001c0001t0001g0211 others(10): Show a0001c0001t0001g0116 a0001c0001t0001g0186 a0001c0001t0001g0211 a0001c0001t0003g0142 a0001c0001t0005g0137 a0001c0001t0015g0133 a0001c0002t0002g0124 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0134 a0001c0002t0002g0139 a0001c0004t0001g0212 a0007c0007t0001g0129	13	340	0.0382	8	c.-39 others(17): Show c.-398_-397insACACACAC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding		27		chr1	TogoVar
COLQ_chr3_15445133_15526706	15457623	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02717.hp2 others(12): Show HG02055.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 NA18972.hp1 NA18999.hp2 NA19087.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0006 a0001c0001 a0001c0003 a0004c0006	a0001c0001t0002 a0001c0003t0004 a0004c0006t0004 a0001c0001t0002 a0001c0003t0004 a0004c0006t0004	a0001c0001t0002g0297 a0001c0003t0004g0028 a0001c0003t0004g0121 others(11): Show a0001c0001t0002g0297 a0001c0003t0004g0028 a0001c0003t0004g0121 a0001c0003t0004g0272 a0001c0003t0004g0311 a0001c0003t0004g0331 a0001c0003t0004g0332 a0001c0003t0004g0335 a0001c0003t0004g0337 a0001c0003t0004g0339 a0001c0003t0004g0340 a0001c0003t0004g0341 a0004c0006t0004g0244 a0004c0006t0004g0246	15	382	0.0393	8	c.954 others(23): Show c.954+562_954+563insAAAAAAAA	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	13/16			chr3	TogoVar
COLQ_chr3_15445133_15526706	15461189	T T	TCCCCGCC others(1): Show TCCCCGCCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp1 HG01071.hp2 others(17): Show HG00558.hp1 HG01069.hp1 HG01071.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02523.hp1 HG03942.hp1 NA18747.hp1 NA18954.hp1 NA18968.hp2 NA18973.hp2 NA18984.hp1 NA18994.hp2 NA18999.hp1 NA19010.hp2 NA19056.hp1 NA19082.hp1 NA19086.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0221 a0001c0001t0001g0274 a0001c0001t0002g0026 others(16): Show a0001c0001t0001g0221 a0001c0001t0001g0274 a0001c0001t0002g0026 a0001c0001t0002g0107 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0312 a0001c0001t0002g0317 a0001c0001t0003g0031 a0001c0001t0003g0057 a0001c0001t0003g0084 a0001c0001t0017g0290	20	382	0.0524	8	c.815 others(25): Show c.815-2865_815-2864insGGGCGGGG	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	12/16			chr3	TogoVar
COLQ_chr3_15445133_15526706	15461998	C C	CTTATTTA others(1): Show CTTATTTAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 NA19056.hp2 HG02257.hp1 HG02451.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0243 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0243	3	382	0.0079	8	c.815 others(25): Show c.815-3681_815-3674dupATAAATAA	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	12/16			chr3	TogoVar
COLQ_chr3_15445133_15526706	15462021	A A	ATTTGTTT others(1): Show ATTTGTTTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02818.hp2 NA18942.hp2 others(1): Show HG00544.hp1 HG02818.hp2 NA18942.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0025 a0001c0001t0002g0287 a0001c0001t0003g0075 a0001c0001t0002g0025 a0001c0001t0002g0287 a0001c0001t0003g0075	4	382	0.0105	8	c.815 others(25): Show c.815-3697_815-3696insCAAACAAA	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	12/16			chr3	TogoVar
COLQ_chr3_15445133_15526706	15465232	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp1 HG01255.hp1 others(10): Show HG00597.hp2 HG01099.hp1 HG01255.hp1 HG02273.hp1 HG03195.hp2 HG03491.hp1 HG04228.hp1 NA18944.hp1 NA18952.hp1 NA18984.hp1 NA19068.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0004	a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 others(9): Show a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0002g0150 a0001c0001t0002g0159 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0304 a0001c0001t0002g0320 a0001c0001t0003g0014 a0001c0001t0003g0056 a0001c0003t0004g0123	13	382	0.0340	8	c.814 others(25): Show c.814+1108_814+1109insTAAATAAA	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	12/16			chr3	TogoVar
COLQ_chr3_15445133_15526706	15498469	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00639.hp1 others(39): Show HG00423.hp2 HG00558.hp1 HG00639.hp1 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01978.hp1 HG02004.hp2 HG02109.hp1 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG03486.hp1 HG03942.hp2 NA18522.hp1 NA18944.hp2 NA18950.hp2 NA18960.hp1 NA18964.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19011.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19080.hp2 NA19081.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0002c0002t0005	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0012g0268 a0002c0002t0005g0020 a0002c0002t0005g0021 a0002c0002t0005g0249 a0002c0002t0005g0250 a0002c0002t0005g0251 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0005g0254	42	382	0.1100	8	c.107 others(25): Show c.107-8840_107-8833dupTGTGTGTG	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	1/16			chr3	TogoVar
COMMD10_chr5_116080025_116298287	116140229	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG03195.hp2 others(3): Show HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0069 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077	6	350	0.0171	8	c.510 others(25): Show c.510+6052_510+6053insGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116140231	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02630.hp2 HG02717.hp1 others(3): Show HG01516.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0299 a0001c0001t0002g0292 a0001c0001t0002g0293 others(3): Show a0001c0001t0001g0299 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296	6	350	0.0171	8	c.510 others(25): Show c.510+6071_510+6078dupGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116241583	C C	CTTATTTA others(1): Show CTTATTTAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01106.hp1 others(54): Show HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp2 HG02071.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18965.hp2 NA18971.hp1 NA18979.hp2 NA18992.hp1 NA18998.hp2 NA19000.hp2 NA19006.hp2 NA19011.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19086.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0075 a0001c0001t0001g0076 others(53): Show a0001c0001t0001g0003 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0347 a0001c0001t0002g0070 a0001c0001t0004g0193 a0001c0001t0005g0194 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0121 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0148 a0001c0002t0001g0169 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0342 a0001c0002t0003g0071 a0001c0002t0006g0134 a0002c0003t0001g0020 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0037	57	350	0.1629	8	c.511 others(27): Show c.511-49895_511-49888dupATTTATTT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	61930617	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01257.hp2 HG01258.hp1 others(3): Show HG00280.hp2 HG01257.hp2 HG01258.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0218	6	286	0.0210	8	c.180 others(27): Show c.180+24792_180+24799dupTGTGTGTG	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	61957087	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01346.hp1 HG02809.hp1 others(6): Show HG00408.hp1 HG01346.hp1 HG02809.hp1 NA18952.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA19043.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0116 others(6): Show a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0198	9	286	0.0315	8	c.181 others(27): Show c.181-43587_181-43580dupGTGTGTGT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	61990899	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02809.hp1 HG02896.hp2 others(4): Show HG00597.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0001g0209 a0001c0001t0002g0255 others(4): Show a0001c0001t0001g0101 a0001c0001t0001g0209 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262	7	286	0.0245	8	c.181 others(25): Show c.181-9801_181-9800insCACACACA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	61990901	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01169.hp1 HG01243.hp2 others(6): Show HG01071.hp1 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG02647.hp2 HG02738.hp1 NA18993.hp1 NA19080.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0104 a0001c0001t0001g0106 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0215	9	286	0.0315	8	c.181 others(25): Show c.181-9799_181-9798insCACACACA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62003605	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01943.hp1 HG02135.hp2 others(5): Show HG00741.hp2 HG01943.hp1 HG02135.hp2 HG03492.hp2 NA18963.hp1 NA18975.hp2 NA19074.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0042 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0192	8	286	0.0280	8	c.462 others(25): Show c.462+2652_462+2659dupACACACAC	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62014542	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03540.hp2 NA18969.hp2 others(3): Show HG02280.hp2 HG03540.hp2 NA18969.hp2 NA18973.hp1 NA18999.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 others(3): Show a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0284	6	286	0.0210	8	c.462 others(27): Show c.462+13590_462+13597dupTTTTTTTT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG03041.hp1 others(1): Show HG02280.hp2 HG02615.hp1 HG03041.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0249 a0001c0001t0001g0284 a0001c0001t0003g0269 others(1): Show a0001c0001t0001g0249 a0001c0001t0001g0284 a0001c0001t0003g0269 a0001c0001t0003g0277	4	286	0.0140	8	c.462 others(27): Show c.462+62909_462+62916dupATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62121371	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG01109.hp1 others(19): Show HG00099.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01255.hp1 HG01928.hp1 HG01943.hp1 HG02523.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp2 HG03017.hp2 HG03704.hp2 HG03927.hp1 HG04204.hp1 NA18948.hp1 NA18955.hp2 NA18973.hp2 NA19005.hp2 NA19080.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(19): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0197 a0001c0002t0001g0105 a0001c0002t0001g0174 a0001c0002t0001g0182	22	286	0.0769	8	c.463 others(27): Show c.463-14441_463-14434dupAAAAAAAA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62139053	G G	GGAGAGAG others(1): Show GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02083.hp1 HG02129.hp1 others(19): Show HG00423.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02451.hp1 HG02572.hp2 HG02698.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18966.hp1 NA18995.hp1 NA18998.hp1 NA19030.hp2 NA19060.hp1 NA19065.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(19): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0212 a0001c0001t0001g0231 a0001c0001t0001g0285 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0237	22	286	0.0769	8	c.31 others(19): Show c.3112_*3113insGAGAGAGA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding		2996		chr2	TogoVar
COMMD6_chr13_75520214_75542841	75540344	C C	CCACACAC others(1): Show CCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01361.hp2 HG01934.hp2 others(15): Show HG01070.hp2 HG01361.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02273.hp1 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03669.hp2 NA18943.hp1 NA18955.hp1 NA18988.hp2 NA19065.hp1 NA19077.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0002g0003 a0001c0001t0002g0123	18	396	0.0455	8	c.-25 others(19): Show c.-2547_-2540dupTGTGTGTG	COMMD6	ENSG00000188243.14	transcript	ENST00000682242.1	protein_coding		2504		chr13	TogoVar
COMMD8_chr4_47445787_47468702	47447372	G G	GACACACA others(1): Show GACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00733.hp1 others(45): Show HG00280.hp2 HG00639.hp2 HG00733.hp1 HG01069.hp2 HG01109.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02155.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03540.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18961.hp2 NA18965.hp2 NA18971.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA19030.hp2 NA19070.hp1 NA19077.hp2 NA20805.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0008 a0007c0006 a0001c0001 a0006c0008 a0007c0006	a0001c0001t0001 a0006c0008t0001 a0007c0006t0001 a0001c0001t0001 a0006c0008t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0111 a0006c0008t0001g0062 a0007c0006t0001g0051	48	396	0.1212	8	c.42 others(19): Show c.4272_*4273insGTGTGTGT	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding		3414		chr4	TogoVar
COMMD8_chr4_47445787_47468702	47456267	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02071.hp2 HG02083.hp2 others(31): Show HG00642.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02523.hp1 HG03492.hp1 HG03492.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18962.hp2 NA18971.hp2 NA18973.hp1 NA18981.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19072.hp1 NA19076.hp1 NA19083.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0016 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0109	34	396	0.0859	8	c.375 others(23): Show c.375+302_375+309dupATATATAT	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding	3/4			chr4	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(1): Show TAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01255.hp2 others(12): Show HG00639.hp2 HG00733.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02602.hp2 HG02735.hp2 HG02886.hp2 HG04184.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0190 others(11): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0229 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0266 a0001c0001t0002g0072 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0122 a0001c0001t0016g0245 a0001c0001t0017g0317	15	448	0.0335	8	c.44 others(19): Show c.4487_*4494dupCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01071.hp1 others(50): Show HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01261.hp1 HG02040.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02572.hp2 HG02615.hp1 HG02886.hp2 HG03225.hp1 HG03486.hp1 HG03654.hp1 HG03834.hp1 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18957.hp1 NA18964.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18998.hp1 NA19005.hp2 NA19011.hp1 NA19056.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015	53	410	0.1293	8	c.13 others(19): Show c.1332_*1333insAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		900		chr10	TogoVar
COMTD1_chr10_75228641_75240957	75237120	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp2 others(73): Show HG00099.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp2 HG01069.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp2 HG01517.hp1 HG01891.hp1 HG02015.hp2 HG02155.hp2 HG02258.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp1 HG03942.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18955.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18985.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19068.hp1 NA19072.hp2 NA19074.hp1 NA19086.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0001 a0001c0001t0001 a0006c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0006c0005t0001g0009	76	410	0.1854	8	c.-11 others(19): Show c.-1193_-1192insAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		1164		chr10	TogoVar
COMT_chr22_19936772_19974975	19954218	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02027.hp1 HG02559.hp2 others(9): Show HG01168.hp1 HG02027.hp1 HG02559.hp2 HG03831.hp1 HG04115.hp1 NA18940.hp1 NA18950.hp2 NA19000.hp1 NA19065.hp1 NA19080.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0004t0004 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0004t0004 a0002c0001t0001 a0002c0001t0003 a0002c0001t0007	a0001c0002t0001g0021 a0001c0002t0001g0307 a0001c0002t0001g0323 others(8): Show a0001c0002t0001g0021 a0001c0002t0001g0307 a0001c0002t0001g0323 a0001c0002t0003g0304 a0001c0004t0004g0386 a0002c0001t0001g0247 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0003g0309 a0002c0001t0007g0248 a0002c0001t0007g0265	12	426	0.0282	8	c.-91 others(25): Show c.-91-6975_-91-6968dupAAAAAAAA	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COP1_chr1_175939831_176212286	175949168	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00609.hp2 others(70): Show HG00099.hp2 HG00597.hp1 HG00609.hp2 HG01099.hp2 HG01257.hp1 HG01884.hp1 HG01928.hp1 HG01981.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG03098.hp1 HG03225.hp1 HG03492.hp1 HG03831.hp1 HG03834.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18981.hp2 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0060 a0001c0001t0001g0096 a0001c0001t0001g0100 others(70): Show a0001c0001t0001g0060 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0009g0059 a0001c0001t0010g0098 a0001c0002t0001g0032 a0003c0004t0001g0189 a0003c0004t0001g0195 a0003c0004t0001g0226 a0003c0004t0001g0227	73	300	0.2433	8	c.213 others(27): Show c.2134-1937_2134-1930dupTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01358.hp2 others(8): Show HG01192.hp1 HG01257.hp2 HG01358.hp2 HG02055.hp1 HG03486.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 NA18747.hp1 NA18962.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0055 a0001c0001t0001g0087 a0001c0001t0001g0091 others(8): Show a0001c0001t0001g0055 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0022 a0001c0002t0002g0023	11	300	0.0367	8	c.213 others(27): Show c.2134-4206_2134-4199dupATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02630.hp1 others(17): Show HG01070.hp1 HG01071.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp2 NA18939.hp2 NA18949.hp2 NA18956.hp1 NA18970.hp1 NA18974.hp2 NA18980.hp1 NA18982.hp2 NA19007.hp1 NA19030.hp1 NA19054.hp2 NA19064.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0069 others(17): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0009g0059 a0001c0002t0002g0010 a0001c0002t0002g0013 a0001c0002t0002g0027 a0001c0002t0002g0030 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266	20	300	0.0667	8	c.213 others(27): Show c.2134-8535_2134-8528dupTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175966280	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG02258.hp2 others(11): Show HG01074.hp1 HG01192.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03225.hp2 HG06807.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0010 others(11): Show a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0024 a0001c0002t0011g0267	14	300	0.0467	8	c.213 others(29): Show c.2134-19049_2134-19042dupGTGTGTGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175967488	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03831.hp2 HG04115.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0003 a0001c0002t0002g0025 a0001c0002t0008g0026 a0001c0002t0002g0003 a0001c0002t0002g0025 a0001c0002t0008g0026	3	300	0.0100	8	c.213 others(29): Show c.2133+19447_2133+19454dupGTTTGTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar

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