Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COL4A6_chrX_108150614_108443422	108382962	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp1 others(29): Show HG00099.hp2 HG00140.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01952.hp1 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03927.hp2 NA18522.hp1 NA18943.hp1 NA18982.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0010	a0001c0001 a0001c0009 a0001c0012 others(4): Show a0001c0001 a0001c0009 a0001c0012 a0002c0002 a0007c0026 a0008c0025 a0010c0014	a0001c0001t0001 a0001c0009t0002 a0001c0012t0002 others(6): Show a0001c0001t0001 a0001c0009t0002 a0001c0012t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0007c0026t0002 a0008c0025t0001 a0010c0014t0002	a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0074 others(29): Show a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0009t0002g0170 a0001c0012t0002g0232 a0002c0002t0001g0045 a0002c0002t0001g0164 a0002c0002t0001g0169 a0002c0002t0001g0190 a0002c0002t0001g0201 a0002c0002t0001g0211 a0002c0002t0001g0220 a0002c0002t0002g0155 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0203 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0003g0160 a0002c0002t0003g0174 a0007c0026t0002g0192 a0008c0025t0001g0161 a0010c0014t0002g0213	32	234	0.1368	9	c.63+ others(26): Show c.63+54971_63+54979dupATTATTATT		COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44						chrX	TogoVar
COL5A2_chr2_189026898_189184761	189029165	C C	CAAAGGGC others(2): Show CAAAGGGCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03516.hp1 HG03540.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0143 a0001c0002t0009g0161 a0001c0002t0009g0162 a0001c0002t0009g0143 a0001c0002t0009g0161 a0001c0002t0009g0162	3	248	0.0121	9	c.49 others(20): Show c.4904_*4905insTAGCCCTTT		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding					2732		chr2	TogoVar
COL5A2_chr2_189026898_189184761	189072765	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02293.hp1 HG03704.hp1 others(2): Show HG02135.hp2 HG02293.hp1 HG03704.hp1 NA18950.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0163 a0001c0002t0002g0023 a0001c0002t0002g0052 others(2): Show a0001c0001t0001g0163 a0001c0002t0002g0023 a0001c0002t0002g0052 a0001c0002t0002g0060 a0001c0002t0002g0237	5	248	0.0202	9	c.110 others(26): Show c.1105-681_1105-673dupTTTTTTTTT		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	17/53						chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970263	G G	GAGTGGGG others(2): Show GAGTGGGGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02615.hp1 NA19080.hp1 others(2): Show HG00558.hp2 HG02615.hp1 NA19080.hp1 NA19240.hp1 NA20752.hp2	a0001 a0005 a0059 a0001 a0005 a0059	a0001c0033 a0001c0045 a0005c0070 others(1): Show a0001c0033 a0001c0045 a0005c0070 a0059c0090	a0001c0033t0002 a0001c0045t0001 a0001c0045t0002 others(2): Show a0001c0033t0002 a0001c0045t0001 a0001c0045t0002 a0005c0070t0002 a0059c0090t0003	a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0045t0002g0032 others(2): Show a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0045t0002g0032 a0005c0070t0002g0265 a0059c0090t0003g0126	5	412	0.0121	9	c.393 others(26): Show c.3937-342_3937-341insGCCCCCACT		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66						chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981656	T T	TCTCCTCC others(2): Show TCTCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00741.hp1 others(15): Show HG00323.hp2 HG00423.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp1 HG01981.hp2 HG02015.hp1 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG03688.hp1 HG03704.hp2 NA18612.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0015 others(2): Show a0001 a0002 a0015 a0017 a0018	a0001c0001 a0001c0003 a0001c0017 others(5): Show a0001c0001 a0001c0003 a0001c0017 a0001c0024 a0002c0002 a0015c0027 a0017c0029 a0018c0031	a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 others(7): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0017t0003 a0001c0024t0003 a0002c0002t0004 a0015c0027t0005 a0017c0029t0003 a0018c0031t0013	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 others(15): Show a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0003t0002g0017 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0006g0059 a0001c0017t0003g0016 a0001c0024t0003g0030 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0027 a0002c0002t0004g0028 a0015c0027t0005g0076 a0017c0029t0003g0022 a0018c0031t0013g0029	18	128	0.1406	9	c.-19 others(18): Show c.-195_-194insCTCCTCCCG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					113		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCCTCC others(2): Show TCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01943.hp1 others(4): Show HG00642.hp1 HG00733.hp1 HG01943.hp1 HG01943.hp2 HG02970.hp1 NA20805.hp1 NA20805.hp2	a0002 a0003 a0020 a0002 a0003 a0020	a0002c0002 a0003c0028 a0020c0013 a0002c0002 a0003c0028 a0020c0013	a0002c0002t0001 a0003c0028t0001 a0020c0013t0004 a0002c0002t0001 a0003c0028t0001 a0020c0013t0004	a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 others(4): Show a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0078 a0003c0028t0001g0053 a0020c0013t0004g0018	7	128	0.0547	9	c.-17 others(18): Show c.-171_-170insCCCCTCCCG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					89		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981685	T T	TCCCGCCC others(2): Show TCCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01934.hp2 HG01981.hp1 others(7): Show HG01106.hp1 HG01934.hp2 HG01981.hp1 HG02148.hp1 HG03492.hp1 NA18945.hp2 NA19004.hp1 NA19004.hp2 NA19067.hp1 NA19070.hp1	a0001 a0003 a0019 a0001 a0003 a0019	a0001c0001 a0001c0003 a0001c0021 others(2): Show a0001c0001 a0001c0003 a0001c0021 a0003c0004 a0019c0032	a0001c0001t0002 a0001c0003t0015 a0001c0021t0002 others(2): Show a0001c0001t0002 a0001c0003t0015 a0001c0021t0002 a0003c0004t0002 a0019c0032t0002	a0001c0001t0002g0007 a0001c0001t0002g0079 a0001c0001t0002g0092 others(7): Show a0001c0001t0002g0007 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0106 a0001c0001t0002g0121 a0001c0003t0015g0105 a0001c0021t0002g0093 a0003c0004t0002g0091 a0019c0032t0002g0008	10	128	0.0781	9	c.-16 others(18): Show c.-166_-165insCCCGCCCCG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					84		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988014	A A	AGGGGACG others(2): Show AGGGGACGGC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02572.hp2 HG03688.hp2 others(1): Show HG02015.hp1 HG02572.hp2 HG03688.hp2 HG04228.hp1	a0001 a0017 a0001 a0017	a0001c0003 a0017c0029 a0001c0003 a0017c0029	a0001c0003t0003 a0001c0003t0007 a0017c0029t0003 a0001c0003t0003 a0001c0003t0007 a0017c0029t0003	a0001c0003t0003g0033 a0001c0003t0003g0036 a0001c0003t0007g0108 others(1): Show a0001c0003t0003g0033 a0001c0003t0003g0036 a0001c0003t0007g0108 a0017c0029t0003g0022	4	128	0.0313	9	c.804 others(24): Show c.804+365_804+373dupACGGCGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988037	A A	AGGGGACG others(2): Show AGGGGACGGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 HG03017.hp2 HG01496.hp2 HG02922.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0008 a0001c0003 a0002c0002 a0002c0008	a0001c0003t0006 a0002c0002t0004 a0002c0008t0004 a0001c0003t0006 a0002c0002t0004 a0002c0008t0004	a0001c0003t0006g0024 a0002c0002t0004g0025 a0002c0008t0004g0032 a0001c0003t0006g0024 a0002c0002t0004g0025 a0002c0008t0004g0032	3	128	0.0234	9	c.804 others(24): Show c.804+388_804+396dupACGGCGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988060	A A	AGGGGACG others(2): Show AGGGGACGGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01361.hp1 HG02970.hp1 others(1): Show HG00423.hp2 HG01361.hp1 HG02970.hp1 NA18612.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0001c0003 a0020c0013 a0001c0001 a0001c0003 a0020c0013	a0001c0001t0003 a0001c0003t0006 a0020c0013t0004 a0001c0001t0003 a0001c0003t0006 a0020c0013t0004	a0001c0001t0003g0014 a0001c0003t0006g0031 a0001c0003t0006g0059 others(1): Show a0001c0001t0003g0014 a0001c0003t0006g0031 a0001c0003t0006g0059 a0020c0013t0004g0018	4	128	0.0313	9	c.804 others(24): Show c.804+411_804+419dupACGGCGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988131	A A	AGGGGACG others(2): Show AGGGGACGGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01074.hp2 HG02015.hp1 others(4): Show HG00423.hp2 HG01074.hp2 HG02015.hp1 HG02970.hp1 HG03704.hp2 NA18612.hp1 NA19067.hp2	a0001 a0002 a0017 others(1): Show a0001 a0002 a0017 a0020	a0001c0003 a0001c0024 a0002c0002 others(2): Show a0001c0003 a0001c0024 a0002c0002 a0017c0029 a0020c0013	a0001c0003t0006 a0001c0024t0003 a0002c0002t0004 others(2): Show a0001c0003t0006 a0001c0024t0003 a0002c0002t0004 a0017c0029t0003 a0020c0013t0004	a0001c0003t0006g0005 a0001c0003t0006g0031 a0001c0003t0006g0059 others(4): Show a0001c0003t0006g0005 a0001c0003t0006g0031 a0001c0003t0006g0059 a0001c0024t0003g0030 a0002c0002t0004g0028 a0017c0029t0003g0022 a0020c0013t0004g0018	7	128	0.0547	9	c.804 others(24): Show c.804+479_804+487dupGGGACGGCG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46099889	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00738.hp2 others(39): Show HG00558.hp1 HG00558.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01106.hp2 HG01169.hp2 HG01257.hp1 HG01261.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02135.hp2 HG02622.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp1 NA18941.hp1 NA18954.hp2 NA18966.hp1 NA18972.hp1 NA18982.hp1 NA18988.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19060.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0020 a0001c0021 a0001c0023	a0001c0001t0001 a0001c0002t0010 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0002t0010 a0001c0005t0001 a0001c0005t0002 a0001c0006t0005 a0001c0009t0001 a0001c0020t0001 a0001c0021t0001 a0001c0023t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(35): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0245 a0001c0002t0010g0123 a0001c0005t0001g0040 a0001c0005t0001g0118 a0001c0005t0002g0177 a0001c0006t0005g0236 a0001c0009t0001g0115 a0001c0009t0001g0120 a0001c0009t0001g0121 a0001c0020t0001g0181 a0001c0021t0001g0180 a0001c0023t0001g0034	42	372	0.1129	9	c.-28 others(26): Show c.-28+1731_-28+1739dupTTTTTTTTT		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46099889	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00738.hp2 others(38): Show HG00558.hp1 HG00558.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01106.hp2 HG01169.hp2 HG01257.hp1 HG01261.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02135.hp2 HG02622.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp1 NA18941.hp1 NA18947.hp2 NA18954.hp2 NA18966.hp1 NA18982.hp1 NA18988.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19060.hp1 NA19079.hp1 NA19080.hp2 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0011 a0001c0014 a0001c0020 a0001c0021 a0001c0025 a0001c0034 a0001c0036 a0001c0037	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0006t0001 a0001c0011t0001 a0001c0014t0001 a0001c0020t0001 a0001c0021t0006 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(35): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0243 a0001c0002t0001g0039 a0001c0002t0002g0123 a0001c0004t0001g0042 a0001c0004t0001g0118 a0001c0004t0001g0174 a0001c0006t0001g0180 a0001c0006t0001g0188 a0001c0011t0001g0115 a0001c0011t0001g0120 a0001c0011t0001g0121 a0001c0011t0001g0177 a0001c0014t0001g0012 a0001c0020t0001g0117 a0001c0021t0006g0176 a0001c0025t0001g0232 a0001c0034t0001g0178 a0001c0036t0001g0035 a0001c0037t0001g0012	41	364	0.1126	9	c.-28 others(26): Show c.-28+1731_-28+1739dupTTTTTTTTT		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A6_chr3_130512177_130682042	130577883	A A	AGTAATGG others(2): Show AGTAATGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG03516.hp1 others(3): Show HG02055.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA21309.hp1	a0007 a0010 a0007 a0010	a0007c0017 a0007c0032 a0007c0040 others(1): Show a0007c0017 a0007c0032 a0007c0040 a0010c0086	a0007c0017t0001 a0007c0032t0003 a0007c0040t0004 others(1): Show a0007c0017t0001 a0007c0032t0003 a0007c0040t0004 a0010c0086t0001	a0007c0017t0001g0009 a0007c0032t0003g0128 a0007c0032t0003g0129 others(3): Show a0007c0017t0001g0009 a0007c0032t0003g0128 a0007c0032t0003g0129 a0007c0040t0004g0234 a0007c0040t0004g0235 a0010c0086t0001g0155	6	264	0.0227	9	c.354 others(28): Show c.3547+3359_3547+3367dupGTAATGGGG		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	8/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99635740	T T	TGGATATT others(2): Show TGGATATTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(138): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA19001.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0002t0010 a0001c0002t0031 a0001c0003t0029 a0001c0003t0036	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(137): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0002g0202 a0001c0001t0002g0227 a0001c0001t0002g0232 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0003g0152 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0212 a0001c0001t0004g0012 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0201 a0001c0001t0004g0208 a0001c0001t0004g0214 a0001c0001t0004g0253 a0001c0001t0005g0014 a0001c0001t0005g0019 a0001c0001t0005g0024 a0001c0001t0005g0028 a0001c0001t0005g0125 a0001c0001t0005g0171 a0001c0001t0005g0224 a0001c0001t0005g0233 a0001c0001t0006g0026 a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0221 a0001c0001t0006g0226 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0007g0025 a0001c0001t0007g0155 a0001c0001t0007g0166 a0001c0001t0007g0220 a0001c0001t0007g0255 a0001c0001t0008g0256 a0001c0001t0009g0013 a0001c0001t0009g0022 a0001c0001t0011g0222 a0001c0001t0011g0257 a0001c0001t0012g0159 a0001c0001t0013g0032 a0001c0001t0014g0005 a0001c0001t0014g0205 a0001c0001t0016g0020 a0001c0001t0016g0021 a0001c0001t0017g0258 a0001c0001t0019g0179 a0001c0001t0020g0241 a0001c0001t0023g0037 a0001c0001t0025g0219 a0001c0001t0026g0156 a0001c0001t0028g0225 a0001c0001t0032g0017 a0001c0001t0033g0015 a0001c0001t0034g0193 a0001c0001t0037g0231 a0001c0002t0010g0039 a0001c0002t0010g0040 a0001c0002t0010g0041 a0001c0002t0010g0042 a0001c0002t0031g0199 a0001c0003t0029g0011 a0001c0003t0036g0213	141	262	0.5382	9	c.-30 others(20): Show c.-3053_-3052insGGATATTCA		COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding					2853		chr3	TogoVar
COL8A1_chr3_99633594_99804217	99795584	C C	CCCAGGCC others(2): Show CCCAGGCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show HG02109.hp1 HG02630.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0031 a0001c0002t0010 a0001c0002t0031	a0001c0002t0010g0039 a0001c0002t0010g0040 a0001c0002t0010g0041 others(2): Show a0001c0002t0010g0039 a0001c0002t0010g0040 a0001c0002t0010g0041 a0001c0002t0010g0042 a0001c0002t0031g0199	5	262	0.0191	9	c.168 others(18): Show c.1689_1697dupCCCTCCAGG	p.Gly others(22): Show p.Gly566_Pro567insProProGly	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	4/4	1897/5515	1698/2235	566/744		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A2_chr1_36090239_36130222	36100887	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01891.hp1 others(21): Show HG00544.hp2 HG00609.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02040.hp1 HG02083.hp1 HG02165.hp2 HG02922.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18939.hp1 NA18947.hp1 NA18962.hp1 NA18978.hp2 NA18986.hp2 NA18987.hp2 NA19002.hp2 NA19070.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0019 a0002c0003 others(2): Show a0001c0001 a0001c0019 a0002c0003 a0002c0004 a0006c0022	a0001c0001t0005 a0001c0001t0020 a0001c0019t0002 others(4): Show a0001c0001t0005 a0001c0001t0020 a0001c0019t0002 a0002c0003t0002 a0002c0003t0009 a0002c0004t0002 a0006c0022t0002	a0001c0001t0005g0012 a0001c0001t0005g0326 a0001c0001t0020g0208 others(16): Show a0001c0001t0005g0012 a0001c0001t0005g0326 a0001c0001t0020g0208 a0001c0019t0002g0063 a0002c0003t0002g0018 a0002c0003t0002g0068 a0002c0003t0002g0071 a0002c0003t0002g0072 a0002c0003t0002g0220 a0002c0003t0002g0309 a0002c0003t0009g0028 a0002c0004t0002g0015 a0002c0004t0002g0017 a0002c0004t0002g0057 a0002c0004t0002g0066 a0002c0004t0002g0069 a0002c0004t0002g0252 a0002c0004t0002g0290 a0006c0022t0002g0061	24	390	0.0615	9	c.-16 others(24): Show c.-16-638_-16-630dupAAAAAAAAA		COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding	2/3						chr1	TogoVar
COL9A1_chr6_70211126_70308084	70267319	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG01952.hp2 others(20): Show HG00621.hp1 HG01123.hp1 HG01952.hp2 HG02083.hp1 HG02258.hp1 HG02615.hp1 HG02630.hp2 HG03139.hp1 HG03486.hp1 HG03540.hp1 HG03710.hp2 NA18965.hp1 NA18967.hp1 NA18973.hp2 NA18974.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA19005.hp2 NA19043.hp1 NA19088.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0007	a0002c0004 a0002c0022 a0003c0003 others(4): Show a0002c0004 a0002c0022 a0003c0003 a0004c0007 a0004c0009 a0005c0028 a0007c0014	a0002c0004t0011 a0002c0022t0001 a0003c0003t0001 others(8): Show a0002c0004t0011 a0002c0022t0001 a0003c0003t0001 a0003c0003t0010 a0004c0007t0001 a0004c0007t0006 a0004c0007t0007 a0004c0009t0001 a0005c0028t0002 a0007c0014t0001 a0007c0014t0002	a0002c0004t0011g0330 a0002c0022t0001g0281 a0003c0003t0001g0285 others(20): Show a0002c0004t0011g0330 a0002c0022t0001g0281 a0003c0003t0001g0285 a0003c0003t0010g0241 a0003c0003t0010g0250 a0004c0007t0001g0014 a0004c0007t0001g0021 a0004c0007t0001g0088 a0004c0007t0001g0128 a0004c0007t0001g0256 a0004c0007t0006g0347 a0004c0007t0007g0331 a0004c0007t0007g0348 a0004c0009t0001g0211 a0004c0009t0001g0315 a0004c0009t0001g0316 a0004c0009t0001g0321 a0004c0009t0001g0323 a0004c0009t0001g0325 a0005c0028t0002g0324 a0007c0014t0001g0224 a0007c0014t0001g0225 a0007c0014t0002g0270	23	362	0.0635	9	c.128 others(26): Show c.1288-550_1288-549insAAAAAAAAA		COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37						chr6	TogoVar
COL9A1_chr6_70211126_70308084	70267327	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02451.hp1 HG02896.hp2 others(7): Show HG01069.hp1 HG02451.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03453.hp1 NA18522.hp2 NA19043.hp2	a0003 a0008 a0003 a0008	a0003c0010 a0008c0023 a0003c0010 a0008c0023	a0003c0010t0002 a0003c0010t0003 a0003c0010t0007 others(2): Show a0003c0010t0002 a0003c0010t0003 a0003c0010t0007 a0003c0010t0008 a0008c0023t0012	a0003c0010t0002g0084 a0003c0010t0003g0071 a0003c0010t0003g0082 others(7): Show a0003c0010t0002g0084 a0003c0010t0003g0071 a0003c0010t0003g0082 a0003c0010t0003g0083 a0003c0010t0003g0085 a0003c0010t0003g0272 a0003c0010t0003g0273 a0003c0010t0007g0335 a0003c0010t0008g0087 a0008c0023t0012g0329	10	362	0.0276	9	c.128 others(26): Show c.1288-566_1288-558dupAAAAAAAAA		COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37						chr6	TogoVar
COL9A1_chr6_70211126_70308084	70279648	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01361.hp2 HG01928.hp2 others(36): Show HG00099.hp2 HG01361.hp2 HG01928.hp2 HG01952.hp1 HG02055.hp2 HG02155.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp2 HG03239.hp2 HG03471.hp2 HG03654.hp1 HG03710.hp1 HG04184.hp2 NA18906.hp1 NA18945.hp1 NA18946.hp2 NA18973.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19060.hp2 NA19062.hp1 NA19075.hp1 NA19075.hp2 NA19081.hp1 NA19088.hp1 NA20129.hp2	a0002 a0003 a0007 others(2): Show a0002 a0003 a0007 a0010 a0011	a0002c0002 a0002c0004 a0002c0016 others(5): Show a0002c0002 a0002c0004 a0002c0016 a0003c0003 a0003c0013 a0007c0014 a0010c0021 a0011c0024	a0002c0002t0001 a0002c0002t0002 a0002c0004t0002 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0002 a0002c0016t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0007 a0003c0013t0003 a0007c0014t0001 a0010c0021t0001 a0011c0024t0001	a0002c0002t0001g0008 a0002c0002t0001g0044 a0002c0002t0001g0045 others(34): Show a0002c0002t0001g0008 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0118 a0002c0002t0001g0186 a0002c0002t0001g0223 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0002g0214 a0002c0002t0002g0309 a0002c0004t0002g0006 a0002c0004t0002g0235 a0002c0004t0002g0294 a0002c0016t0004g0100 a0003c0003t0001g0061 a0003c0003t0001g0231 a0003c0003t0001g0289 a0003c0003t0001g0293 a0003c0003t0002g0046 a0003c0003t0004g0054 a0003c0003t0007g0349 a0003c0003t0007g0350 a0003c0013t0003g0197 a0003c0013t0003g0311 a0007c0014t0001g0224 a0007c0014t0001g0225 a0010c0021t0001g0215 a0011c0024t0001g0244	39	362	0.1077	9	c.975 others(26): Show c.975+1155_975+1163dupTTTTTTTTT		COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	10/37						chr6	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AATTATAT others(2): Show AATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02080.hp1 others(4): Show HG01109.hp1 HG01884.hp1 HG02080.hp1 HG02148.hp2 HG02280.hp1 HG03491.hp1 HG04184.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0152 a0001c0001t0001g0166 a0006c0006t0001g0036	7	438	0.0160	9	c.-39 others(20): Show c.-3926_-3925insATATATAAT		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding					3837		chr1	TogoVar
COLEC11_chr2_3590112_3649644	3607449	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02004.hp2 HG02109.hp1 others(4): Show HG00639.hp1 HG02004.hp2 HG02109.hp1 HG03130.hp2 HG04199.hp1 NA19030.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0001c0001t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0061 a0002c0002t0001g0302 a0002c0002t0001g0316 others(4): Show a0001c0001t0001g0061 a0002c0002t0001g0302 a0002c0002t0001g0316 a0002c0002t0001g0363 a0002c0003t0001g0171 a0002c0003t0001g0223 a0002c0003t0001g0233	7	378	0.0185	9	c.130 others(26): Show c.130+2986_130+2994dupTTTTTTTTT		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3625625	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG01361.hp2 others(20): Show HG00140.hp1 HG01243.hp1 HG01361.hp2 HG01891.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02630.hp1 HG02647.hp2 HG02738.hp2 HG02895.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0137 others(19): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0137 a0001c0001t0001g0207 a0001c0001t0001g0320 a0002c0002t0001g0016 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0221 a0002c0002t0001g0302 a0002c0002t0001g0318 a0002c0002t0001g0347 a0002c0002t0001g0363 a0002c0003t0001g0003 a0002c0003t0001g0024 a0002c0003t0001g0040 a0002c0003t0001g0051 a0002c0003t0001g0186 a0002c0003t0001g0277 a0002c0004t0001g0231 a0002c0004t0001g0246 a0002c0004t0001g0322	23	378	0.0609	9	c.203 others(28): Show c.203-11897_203-11889dupTTTTTTTTT		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	475076	A A	AAAAAAAA others(2): Show AAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01433.hp1 others(20): Show HG00140.hp1 HG01106.hp2 HG01433.hp1 HG01975.hp2 HG01978.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02273.hp2 HG02738.hp2 HG03017.hp1 HG03139.hp2 HG03831.hp1 HG04204.hp1 NA18970.hp2 NA18979.hp1 NA18986.hp2 NA18990.hp1 NA19006.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0003 a0001c0004 a0002c0001 others(5): Show a0001c0003 a0001c0004 a0002c0001 a0002c0007 a0003c0002 a0003c0022 a0004c0006 a0005c0014	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(20): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0061 a0001c0003t0063 a0001c0003t0133 a0001c0004t0043 a0001c0004t0051 a0001c0004t0175 a0002c0001t0001 a0002c0001t0003 a0002c0001t0008 a0002c0001t0046 a0002c0001t0123 a0002c0001t0177 a0002c0007t0085 a0003c0002t0007 a0003c0002t0032 a0003c0002t0111 a0003c0002t0134 a0003c0022t0044 a0004c0006t0236 a0005c0014t0034	a0001c0003t0001g0302 a0001c0003t0002g0254 a0001c0003t0004g0294 others(20): Show a0001c0003t0001g0302 a0001c0003t0002g0254 a0001c0003t0004g0294 a0001c0003t0061g0292 a0001c0003t0063g0295 a0001c0003t0133g0256 a0001c0004t0043g0116 a0001c0004t0051g0006 a0001c0004t0175g0095 a0002c0001t0001g0273 a0002c0001t0003g0126 a0002c0001t0008g0298 a0002c0001t0046g0033 a0002c0001t0123g0296 a0002c0001t0177g0215 a0002c0007t0085g0030 a0003c0002t0007g0051 a0003c0002t0032g0293 a0003c0002t0111g0297 a0003c0002t0134g0237 a0003c0022t0044g0021 a0004c0006t0236g0035 a0005c0014t0034g0025	23	366	0.0628	9	c.58+ others(24): Show c.58+5630_58+5631insATTTTTTTT		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9						chr18	TogoVar
COLEC12_chr18_311737_505701	475076	A A	AAAAATAA others(2): Show AAAAATAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01074.hp2 others(23): Show HG00621.hp2 HG00673.hp2 HG01074.hp2 HG02083.hp1 HG02155.hp1 HG03710.hp1 HG04184.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18982.hp1 NA18985.hp1 NA18988.hp1 NA19002.hp2 NA19003.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0005 others(2): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0003c0002	a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 others(22): Show a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0012 a0001c0003t0025 a0001c0003t0069 a0001c0003t0163 a0001c0004t0005 a0001c0004t0148 a0001c0005t0007 a0002c0001t0001 a0002c0001t0125 a0002c0001t0152 a0002c0001t0159 a0002c0001t0178 a0002c0001t0180 a0002c0001t0183 a0002c0001t0184 a0002c0001t0214 a0002c0001t0240 a0002c0001t0244 a0003c0002t0014 a0003c0002t0022	a0001c0003t0002g0180 a0001c0003t0004g0278 a0001c0003t0004g0279 others(23): Show a0001c0003t0002g0180 a0001c0003t0004g0278 a0001c0003t0004g0279 a0001c0003t0005g0153 a0001c0003t0006g0277 a0001c0003t0007g0222 a0001c0003t0012g0142 a0001c0003t0025g0203 a0001c0003t0069g0170 a0001c0003t0163g0281 a0001c0004t0005g0223 a0001c0004t0148g0096 a0001c0005t0007g0225 a0002c0001t0001g0280 a0002c0001t0125g0299 a0002c0001t0152g0226 a0002c0001t0159g0195 a0002c0001t0178g0227 a0002c0001t0180g0070 a0002c0001t0183g0216 a0002c0001t0184g0276 a0002c0001t0214g0213 a0002c0001t0240g0058 a0002c0001t0244g0069 a0003c0002t0014g0224 a0003c0002t0022g0077	26	366	0.0710	9	c.58+ others(24): Show c.58+5630_58+5631insATTTATTTT		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9						chr18	TogoVar
COLEC12_chr18_311737_505701	500665	G G	GCCCGCGC others(2): Show GCCCGCGCTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02451.hp1 others(8): Show HG01884.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02723.hp1 HG02922.hp1 HG03209.hp1 HG03579.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0005 a0002c0001 others(2): Show a0001c0003 a0001c0005 a0002c0001 a0003c0002 a0003c0010	a0001c0003t0256 a0001c0005t0247 a0001c0005t0248 others(8): Show a0001c0003t0256 a0001c0005t0247 a0001c0005t0248 a0001c0005t0250 a0001c0005t0255 a0002c0001t0249 a0003c0002t0246 a0003c0002t0251 a0003c0002t0252 a0003c0002t0253 a0003c0010t0254	a0001c0003t0256g0356 a0001c0005t0247g0355 a0001c0005t0248g0357 others(8): Show a0001c0003t0256g0356 a0001c0005t0247g0355 a0001c0005t0248g0357 a0001c0005t0250g0354 a0001c0005t0255g0358 a0002c0001t0249g0361 a0003c0002t0246g0359 a0003c0002t0251g0363 a0003c0002t0252g0360 a0003c0002t0253g0364 a0003c0010t0254g0362	11	366	0.0301	9	c.-16 others(18): Show c.-160_-152dupGAGCGCGGG		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/10				152		chr18	TogoVar
COLGALT1_chr19_17550649_17588157	17554797	A A	AAATAATA others(2): Show AAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02886.hp2 HG03098.hp1 others(2): Show HG02602.hp2 HG02886.hp2 HG03098.hp1 NA18612.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0032 a0001c0002t0058 a0001c0002t0003 a0001c0002t0032 a0001c0002t0058	a0001c0002t0003g0004 a0001c0002t0032g0021 a0001c0002t0058g0069 a0001c0002t0003g0004 a0001c0002t0032g0021 a0001c0002t0058g0069	5	396	0.0126	9	c.-91 others(18): Show c.-917_-916insAATAATAAT		COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding					851		chr19	TogoVar
COLQ_chr3_15445133_15526706	15461189	T T	TCCCCGCC others(2): Show TCCCCGCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00609.hp2 others(13): Show HG00280.hp1 HG00558.hp2 HG00609.hp2 HG01243.hp2 HG01433.hp1 NA18944.hp1 NA18947.hp1 NA18952.hp1 NA18969.hp2 NA18978.hp2 NA18987.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0203 a0001c0001t0002g0027 a0001c0001t0002g0279 others(12): Show a0001c0001t0001g0203 a0001c0001t0002g0027 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0300 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0003g0041	16	382	0.0419	9	c.815 others(26): Show c.815-2865_815-2864insGGGGCGGGG		COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	12/16						chr3	TogoVar
COMMD1_chr2_61900674_62141058	61940022	G G	GGGGTAGC others(2): Show GGGGTAGCTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp2 HG02523.hp2 others(6): Show HG02040.hp2 HG02083.hp2 HG02523.hp2 NA18944.hp2 NA18948.hp2 NA18960.hp1 NA18998.hp2 NA19072.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 others(6): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0219	9	286	0.0315	9	c.180 others(28): Show c.180+34165_180+34173dupGGGTAGCTC		COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62121371	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00673.hp2 others(21): Show HG00099.hp1 HG00280.hp1 HG00673.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG02280.hp1 HG02451.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03492.hp2 HG04115.hp2 HG04199.hp2 NA18945.hp2 NA19086.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 others(21): Show a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0232 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0237 a0001c0002t0001g0025 a0001c0002t0001g0177 a0002c0004t0001g0021 a0002c0004t0001g0081	24	286	0.0839	9	c.463 others(28): Show c.463-14442_463-14434dupAAAAAAAAA		COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD7_chr20_32697699_32748467	32714824	A A	AAACAACA others(2): Show AAACAACAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(124): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(115): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0349 a0001c0001t0001g0353 a0001c0001t0001g0356 a0001c0001t0001g0372 a0001c0001t0002g0078 a0001c0001t0002g0118 a0001c0001t0002g0269 a0001c0001t0003g0369 a0002c0002t0001g0077	127	400	0.3175	9	c.242 others(26): Show c.242-8073_242-8065dupGTTGTTGTT		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8						chr20	TogoVar
COMMD7_chr20_32697699_32748467	32739644	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp2 others(12): Show HG00099.hp2 HG00280.hp1 HG00639.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG03017.hp1 HG03239.hp1 HG03710.hp1 HG04228.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0125 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0125 a0001c0001t0001g0246 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0353 a0001c0001t0001g0356	15	400	0.0375	9	c.84+ others(24): Show c.84+3655_84+3663dupTTTTTTTTT		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8						chr20	TogoVar
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00735.hp2 others(16): Show HG00140.hp1 HG00642.hp1 HG00735.hp2 HG01109.hp2 HG01192.hp1 HG02015.hp1 HG02071.hp2 HG02486.hp2 HG02897.hp2 HG03579.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 NA18944.hp2 NA18960.hp2 NA18981.hp1 NA18992.hp1 NA19000.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	19	410	0.0463	9	c.13 others(20): Show c.1332_*1333insAAAAAAAAA		COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding					900		chr10	TogoVar
COMTD1_chr10_75228641_75240957	75237120	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01515.hp2 others(15): Show HG00642.hp1 HG01081.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp2 NA18943.hp1 NA18964.hp2 NA18968.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005	18	410	0.0439	9	c.-11 others(20): Show c.-1193_-1192insAAAAAAAAA		COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding					1164		chr10	TogoVar
COP1_chr1_175939831_176212286	175949168	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00639.hp2 others(73): Show HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03688.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp1 NA18967.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp1 NA20129.hp1 NA20300.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0005 a0007c0009 a0001c0001 a0004c0005 a0007c0009	a0001c0001t0001 a0001c0001t0007 a0004c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0004c0005t0001 a0007c0009t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 others(73): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0007g0002 a0004c0005t0001g0031 a0007c0009t0001g0247	76	300	0.2533	9	c.213 others(28): Show c.2134-1938_2134-1930dupTTTTTTTTT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19						chr1	TogoVar
COP1_chr1_175939831_176212286	175976270	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00741.hp1 others(39): Show HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp1 HG01934.hp1 HG01981.hp1 HG02135.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02622.hp2 HG02965.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18982.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19002.hp2 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19066.hp2 NA19084.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	a0001c0001t0001g0096 a0001c0001t0001g0149 a0001c0001t0001g0150 others(39): Show a0001c0001t0001g0096 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0006g0001 a0003c0004t0001g0226 a0003c0004t0001g0227 a0005c0007t0001g0215 a0007c0009t0001g0247	42	300	0.1400	9	c.213 others(30): Show c.2133+10664_2133+10672dupAAAAAAAAA		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19						chr1	TogoVar
COP1_chr1_175939831_176212286	176019463	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01261.hp1 others(5): Show HG00738.hp2 HG01069.hp2 HG01261.hp1 HG01978.hp2 HG02559.hp1 NA18956.hp2 NA19043.hp2 NA19066.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 others(5): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0099 a0001c0001t0001g0143 a0001c0001t0001g0160 a0001c0001t0001g0250 a0006c0008t0001g0260	8	300	0.0267	9	c.172 others(28): Show c.1729+8100_1729+8108dupATTATTATT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19						chr1	TogoVar
COP1_chr1_175939831_176212286	176019505	T T	TAATAATA others(2): Show TAATAATAAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG03195.hp2 HG01099.hp2 HG01106.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0035 a0001c0001t0001g0119 a0001c0001t0001g0120	3	300	0.0100	9	c.172 others(28): Show c.1729+8066_1729+8067insGTTATTATT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19						chr1	TogoVar
COP1_chr1_175939831_176212286	176089299	T T	TAACAACA others(2): Show TAACAACAAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01993.hp1 others(25): Show HG00639.hp1 HG01070.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02273.hp1 HG02451.hp2 HG02602.hp2 HG02647.hp1 HG02735.hp2 HG02818.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 NA18948.hp1 NA18970.hp1 NA19056.hp1 NA19062.hp1 NA19079.hp2 NA19080.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0002t0002 a0004c0005t0001	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 others(25): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0257 a0001c0001t0010g0098 a0001c0001t0013g0269 a0001c0002t0002g0004 a0001c0002t0002g0007 a0004c0005t0001g0031	28	300	0.0933	9	c.102 others(28): Show c.1027-3418_1027-3410dupGTTGTTGTT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	9/19						chr1	TogoVar
COP1_chr1_175939831_176212286	176173986	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01070.hp1 others(15): Show HG00099.hp2 HG00140.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG02300.hp1 HG02647.hp2 HG02818.hp1 HG03041.hp1 HG03831.hp1 HG06807.hp2 NA18948.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0095 a0001c0001t0001g0146 a0001c0001t0001g0225 others(15): Show a0001c0001t0001g0095 a0001c0001t0001g0146 a0001c0001t0001g0225 a0001c0001t0003g0282 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0002c0003t0001g0263 a0002c0003t0001g0264 a0003c0004t0001g0195	18	300	0.0600	9	c.565 others(26): Show c.565+1915_565+1923dupTTTTTTTTT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19						chr1	TogoVar
COPG2_chr7_130501238_130673748	130523119	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp1 others(90): Show HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02300.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19009.hp2 NA19010.hp1 NA19054.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19091.hp2 NA20300.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0009 a0010	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0006c0007 a0008c0013 a0009c0014 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0002c0003t0001 a0006c0007t0001 a0008c0013t0001 a0009c0014t0001 a0010c0015t0001	a0001c0001t0001g0270 a0001c0001t0001g0289 a0001c0001t0001g0303 others(90): Show a0001c0001t0001g0270 a0001c0001t0001g0289 a0001c0001t0001g0303 a0001c0001t0002g0156 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0187 a0001c0001t0002g0195 a0001c0001t0004g0293 a0001c0001t0004g0324 a0001c0001t0005g0053 a0001c0001t0005g0258 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0241 a0001c0002t0003g0068 a0001c0002t0003g0087 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0120 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0261 a0001c0002t0004g0056 a0001c0002t0004g0081 a0001c0002t0004g0083 a0001c0002t0004g0100 a0001c0002t0005g0077 a0001c0002t0005g0078 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0006c0007t0001g0095 a0008c0013t0001g0067 a0009c0014t0001g0089 a0010c0015t0001g0259	93	326	0.2853	9	c.215 others(30): Show c.2150-14469_2150-14461dupTTTTTTTTT		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23						chr7	TogoVar
COPG2_chr7_130501238_130673748	130557817	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp2 HG02080.hp2 others(16): Show HG01099.hp2 HG02055.hp2 HG02080.hp2 HG02148.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03927.hp1 HG06807.hp2 NA18967.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0129 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0129 a0001c0001t0001g0146 a0001c0001t0001g0245 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0002g0161 a0001c0001t0002g0228 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0005g0247 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0258 a0001c0001t0009g0252 a0001c0001t0009g0256 a0001c0001t0012g0206	19	326	0.0583	9	c.112 others(28): Show c.1129-2694_1129-2686dupTTTTTTTTT		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	12/23						chr7	TogoVar
COPS3_chr17_17241616_17286246	17255485	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(198): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(158): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0237 a0001c0002t0004g0114 a0001c0003t0001g0190 a0001c0004t0001g0143	201	352	0.5710	9	c.937 others(24): Show c.937-549_937-541dupTTTTTTTTT		COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	8/11						chr17	TogoVar
COPS4_chr4_83030183_83080818	83034147	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp2 others(106): Show HG00423.hp2 HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01943.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02145.hp2 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18997.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(90): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0002t0001g0267 a0002c0004t0001g0303	109	372	0.2930	9	c.-10 others(20): Show c.-1078_-1077insAAAAAAAAA		COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding					1035		chr4	TogoVar
COPS4_chr4_83030183_83080818	83053839	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(211): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(192): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 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 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 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0270 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0003t0001g0331	214	372	0.5753	9	c.411 others(26): Show c.411-3082_411-3074dupAAAAAAAAA		COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
COPZ2_chr17_48021167_48042797	48021893	A A	ATTTTTTT others(2): Show ATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(82): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00642.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02155.hp2 HG02451.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18946.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19066.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0016 others(28): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0002c0002t0002g0012 a0002c0002t0002g0019 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053	85	396	0.2147	9	c.45 others(20): Show c.4534_*4535insAAAAAAAAA		COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding					4273		chr17	TogoVar
COQ5_chr12_120498279_120534158	120514745	A A	AAACAACA others(2): Show AAACAACAAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp2 others(85): Show HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01934.hp2 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02735.hp1 HG02976.hp1 HG03017.hp1 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03669.hp2 HG03710.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19072.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0007t0002 a0003c0005t0002 a0004c0006t0002	a0001c0001t0001g0124 a0001c0002t0002g0001 a0001c0002t0002g0002 others(69): Show a0001c0001t0001g0124 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0004g0082 a0001c0002t0004g0101 a0001c0007t0002g0092 a0003c0005t0002g0039 a0003c0005t0002g0040 a0004c0006t0002g0053	88	388	0.2268	9	c.574 others(26): Show c.574+1813_574+1821dupGTTGTTGTT		COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	3/6						chr12	TogoVar
COQ7_chr16_19062614_19085095	19073308	C C	CAAAAAAA others(2): Show CAAAAAAACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(197): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0002c0012 others(3): Show a0001c0001 a0002c0002 a0002c0012 a0003c0004 a0004c0005 a0007c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0002c0002t0005 a0002c0002t0006 a0002c0002t0013 a0002c0002t0022 a0002c0012t0013 a0003c0004t0001 a0004c0005t0001 a0007c0010t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0023 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0162 a0001c0001t0007g0024 a0001c0001t0007g0093 a0001c0001t0007g0155 a0001c0001t0007g0157 a0001c0001t0010g0087 a0001c0001t0010g0096 a0001c0001t0010g0097 a0001c0001t0011g0148 a0001c0001t0011g0150 a0001c0001t0015g0008 a0001c0001t0016g0109 a0001c0001t0017g0003 a0001c0001t0020g0101 a0002c0002t0005g0019 a0002c0002t0006g0180 a0002c0002t0006g0182 a0002c0002t0006g0183 a0002c0002t0006g0184 a0002c0002t0006g0185 a0002c0002t0013g0044 a0002c0002t0022g0166 a0002c0012t0013g0167 a0003c0004t0001g0002 a0003c0004t0001g0017 a0003c0004t0001g0142 a0003c0004t0001g0143 a0004c0005t0001g0001 a0004c0005t0001g0013 a0004c0005t0001g0133 a0007c0010t0004g0086	200	372	0.5376	9	c.253 others(24): Show c.253-604_253-596dupAAAAAAAAC		COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ8B_chr19_40686530_40721886	40719367	G G	GAATAATA others(2): Show GAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG03098.hp2 others(3): Show HG02280.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0020 a0002c0024 a0001c0002 a0001c0020 a0002c0024	a0001c0002t0001 a0001c0020t0001 a0002c0024t0001 a0001c0002t0001 a0001c0020t0001 a0002c0024t0001	a0001c0002t0001g0004 a0001c0020t0001g0233 a0002c0024t0001g0351 a0001c0002t0001g0004 a0001c0020t0001g0233 a0002c0024t0001g0351	6	410	0.0146	9	c.-27 others(20): Show c.-2793_-2785dupATTATTATT		COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding					2482		chr19	TogoVar
CORO2A_chr9_98115975_98197637	98192481	C C	CCGGGGGG others(2): Show CCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18963.hp2 NA18975.hp1 HG02572.hp1 NA18963.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0002g0007 a0001c0001t0003g0006 a0001c0001t0001g0005 a0001c0001t0002g0007 a0001c0001t0003g0006	3	342	0.0088	9	c.-1+ others(20): Show c.-1+77_-1+78insCCCCCCCCG		CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	1/11						chr9	TogoVar

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