Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COPE_chr19_18894514_18924387	18902721	A A	AAGGAAAG others(10): Show AAGGAAAGGAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02559.hp1 HG02572.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0267 a0003c0011t0001g0275 a0003c0011t0001g0267 a0003c0011t0001g0275	2	327	0.0061	17	c.735 others(32): Show c.735+546_735+547insCCTTTCCTTCCTTTCCT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPG2_chr7_130501238_130673748	130591453	C C	CCCCTGCC others(10): Show CCCCTGCCCGGCCAGCCG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	324	0.0031	17	c.737 others(36): Show c.737+19499_737+19500insCGGCTGGCCGGGCAGGG	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130659354	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01993.hp1 HG02486.hp1 others(1): Show HG01192.hp2 HG01993.hp1 HG02486.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0011 a0001c0002t0007 a0001c0002t0011	a0001c0002t0007g0237 a0001c0002t0007g0238 a0001c0002t0007g0239 others(1): Show a0001c0002t0007g0237 a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0011g0240	4	107	0.0374	17	c.243 others(34): Show c.243+3612_243+3613insTTTTTTTTTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	4/23			chr7	TogoVar
COPRS_chr17_31846871_31864244	31858771	A A	AGGCTCCT others(10): Show AGGCTCCTGGCAGCGGGC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	370	0.0027	17	c.99+ others(30): Show c.99+313_99+329dupGCCCGCTGCCAGGAGCC	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding	1/3			chr17	TogoVar
COPRS_chr17_31846871_31864244	31859356	C C	CGGGGGCG others(10): Show CGGGGGCGGGGCGGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(206): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0004g0056 a0001c0003t0001g0055 a0001c0004t0001g0048	209	333	0.6276	17	c.-15 others(26): Show c.-158_-157insTGCGCCGCCCCGCCCCC	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding		113		chr17	TogoVar
COPRS_chr17_31846871_31864244	31859356	C C	CGGGGGCG others(10): Show CGGGGGCGGGGCGGTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02886.hp2 others(4): Show HG02572.hp2 HG02615.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG03209.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0028	7	131	0.0534	17	c.-15 others(26): Show c.-158_-157insTGCACCGCCCCGCCCCC	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding		113		chr17	TogoVar
COPS3_chr17_17241616_17286246	17258602	G G	GTTTTTAA others(10): Show GTTTTTAATGGCAGCTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	3	350	0.0086	17	c.936 others(34): Show c.936+1682_936+1698dupACAGCTGCCATTAAAAA	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	8/11			chr17	TogoVar
COPS7B_chr2_231781445_231814253	231781626	G G	GACCACAG others(10): Show GACCACAGATCCCAGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01069.hp1 others(47): Show HG00408.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02165.hp1 HG02523.hp1 HG02602.hp2 HG02717.hp1 HG02735.hp1 HG03239.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18747.hp2 NA18948.hp2 NA18949.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18969.hp2 NA18984.hp2 NA18991.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19065.hp2 NA19070.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0026 a0001c0001t0035 a0001c0001t0041	a0001c0001t0002g0002 a0001c0001t0002g0041 a0001c0001t0002g0044 others(27): Show a0001c0001t0002g0002 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0004g0002 a0001c0001t0006g0021 a0001c0001t0006g0041 a0001c0001t0006g0044 a0001c0001t0006g0169 a0001c0001t0026g0045 a0001c0001t0035g0168 a0001c0001t0041g0002	50	346	0.1445	17	c.-49 others(28): Show c.-4929_-4928insACCACAGATCCCAGCGC	COPS7B	ENSG00000144524.18	transcript	ENST00000350033.8	protein_coding		4818		chr2	TogoVar
COPS9_chr2_240125828_240141305	240135855	G G	GGTTGATT others(10): Show GGTTGATTCCCCACCCGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(303): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0003g0011 a0001c0001t0005g0040	306	440	0.6955	17	c.63+ others(30): Show c.63+366_63+367insGCGGGTGGGGAATCAAC	COPS9	ENSG00000172428.11	transcript	ENST00000607357.2	protein_coding	1/2			chr2	TogoVar
COQ5_chr12_120498279_120534158	120526698	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02818.hp1 others(1): Show HG02630.hp1 HG02717.hp1 HG02818.hp1 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0287 a0002c0003t0001g0314 a0002c0003t0001g0037 a0002c0003t0001g0287 a0002c0003t0001g0314	4	22	0.1818	17	c.202 others(34): Show c.202+2225_202+2241dupAAAAAAAAAAAAAAAAA	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ7_chr16_19062614_19085095	19064374	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19062.hp2 NA19060.hp1 NA19062.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0006 a0002c0003t0002g0007	2	366	0.0055	17	c.-32 others(28): Show c.-3291_-3290insGTGTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3239		chr16	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02615.hp2 HG02965.hp2 HG01358.hp1 HG02615.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0020 a0002c0002t0003 a0001c0001t0001 a0001c0001t0020 a0002c0002t0003	a0001c0001t0001g0131 a0001c0001t0020g0101 a0002c0002t0003g0076 a0001c0001t0001g0131 a0001c0001t0020g0101 a0002c0002t0003g0076	3	50	0.0600	17	c.576 others(32): Show c.576+230_576+231insTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CORIN_chr4_47589001_47843067	47805148	A A	AAAAATAA others(10): Show AAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	122	0.0082	17	c.208 others(34): Show c.208+1754_208+1755insATTATTATTATTATTTT	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	2/21			chr4	TogoVar
CORO2A_chr9_98115975_98197637	98119794	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	336	0.0030	17	c.49 others(28): Show c.4979_*4980insAAAAAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1180		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTGT others(10): Show GTTTTTGTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	238	0.0042	17	c.49 others(28): Show c.4975_*4976insAAAAAAAAAAACAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1176		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	238	0.0042	17	c.49 others(28): Show c.4975_*4976insAAAAAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1176		chr9	TogoVar
CORO7_chr16_4349542_4421596	4395996	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0258 a0004c0005t0002g0258	1	97	0.0103	17	c.565 others(32): Show c.565-658_565-657insCACACACACACACACAC	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	6/27			chr16	TogoVar
COX15_chr10_99705868_99737127	99730807	T T	TCCCAAGG others(10): Show TCCCAAGGCTTTGGGAGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	420	0.0024	17	c.91- others(32): Show c.91-1090_91-1074dupCCTCCCAAAGCCTTGGG	COX15	ENSG00000014919.13	transcript	ENST00000016171.6	protein_coding	1/8			chr10	TogoVar
COX16_chr14_70320081_70364683	70328072	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03688.hp2 NA18950.hp1 others(2): Show HG02027.hp2 HG03688.hp2 NA18950.hp1 NA18975.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0011g0185 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0011g0185	5	41	0.1220	17	c.204 others(34): Show c.204+1085_204+1101dupAAAAAAAAAAAAAAAAA	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	3/3			chr14	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	85	0.0118	17	c.434 others(32): Show c.434+164_434+165insATATATTTTTTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01515.hp1 HG02083.hp2 others(4): Show HG00621.hp2 HG01515.hp1 HG02083.hp2 HG02523.hp2 NA18972.hp1 NA18986.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0098 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0009g0097	7	91	0.0769	17	c.434 others(32): Show c.434+164_434+165insATATATATTTTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG02015.hp1 others(9): Show HG00741.hp2 HG01106.hp1 HG02015.hp1 HG02040.hp2 HG02602.hp1 HG04184.hp1 NA18960.hp2 NA18966.hp2 NA18979.hp1 NA18987.hp1 NA18999.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0010t0001	a0001c0001t0001g0020 a0001c0001t0001g0087 a0001c0001t0001g0088 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0127 a0001c0001t0008g0090 a0001c0001t0010g0032 a0001c0010t0001g0221	12	96	0.1250	17	c.434 others(32): Show c.434+164_434+165insATATATATATTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp2 HG02148.hp1 others(10): Show HG00597.hp2 HG02056.hp2 HG02148.hp1 HG02622.hp1 NA18945.hp2 NA18954.hp2 NA18962.hp2 NA18970.hp1 NA18978.hp1 NA18997.hp2 NA19000.hp1 NA19082.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0027 a0001c0001t0001 a0001c0002t0002 a0001c0002t0027	a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0077 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0117 a0001c0002t0002g0054 a0001c0002t0002g0178 a0001c0002t0027g0177	13	97	0.1340	17	c.434 others(32): Show c.434+164_434+165insATATATATATATTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01168.hp2 HG01169.hp2 others(2): Show HG01070.hp2 HG01168.hp2 HG01169.hp2 HG01952.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0109 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0109 a0001c0002t0002g0052	5	89	0.0562	17	c.434 others(32): Show c.434+164_434+165insATATATATATATATTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX4I2_chr20_31632912_31650006	31633906	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 NA18906.hp1 HG03516.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0056 a0002c0002t0001g0049 a0001c0001t0001g0056 a0002c0002t0001g0049	2	167	0.0120	17	c.-40 others(28): Show c.-4057_-4056insAAAAAAAAAAAAAAAAA	COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding		4005		chr20	TogoVar
COX5B_chr2_97641062_97653383	97646769	A A	ACCCGGGA others(10): Show ACCCGGGAGGCGGAGGTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	344	0.0029	17	c.104 others(32): Show c.104-293_104-277dupGGAGGCGGAGGTTCCCG	COX5B	ENSG00000135940.7	transcript	ENST00000258424.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
COX6A1_chr12_120433113_120445730	120435328	T T	TCTGCTTG others(10): Show TCTGCTTGTAAGTCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	17	c.-27 others(28): Show c.-2799_-2798insCTGCTTGTAAGTCAGCA	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		2784		chr12	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA19043.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0003 a0001c0001t0024g0079 a0001c0001t0003g0003 a0001c0001t0024g0079	2	177	0.0113	17	c.-31 others(28): Show c.-3106_-3090dupTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46881001	A A	AAAAATAA others(10): Show AAAAATAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20129.hp1 HG02451.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0048 a0001c0001t0004g0049 a0001c0001t0002g0048 a0001c0001t0004g0049	2	297	0.0067	17	c.-10 others(38): Show c.-105+28158_-105+28159insATTTTTTTTTTTATTTT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46881001	A A	AAAAATAA others(10): Show AAAAATAAAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	296	0.0034	17	c.-10 others(38): Show c.-105+28158_-105+28159insATTTTATTTTTTATTTT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46907848	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 NA18612.hp1 others(4): Show HG00280.hp2 HG01106.hp2 NA18612.hp1 NA18983.hp1 NA19056.hp2 NA19085.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(4): Show a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048	7	84	0.0833	17	c.-10 others(36): Show c.-105+1295_-105+1311dupAAAAAAAAAAAAAAAAA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
CPA2_chr7_130261863_130294798	130267771	T T	TCTCTCTC others(10): Show TCTCTCTCTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	386	0.0026	17	c.71+ others(30): Show c.71+819_71+820insCTCTCTCTCTTTCTTTC	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10			chr7	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTTCTC others(10): Show CTCTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	51	0.0196	17	c.71+ others(30): Show c.71+825_71+826insCTCTTTCTTTCTTTCTT	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA4_chr7_130288161_130329180	130308723	A A	ATTTTTTT others(10): Show ATTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02055.hp1 HG02258.hp2	a0006 a0007 a0006 a0007	a0006c0010 a0007c0013 a0006c0010 a0007c0013	a0006c0010t0005 a0007c0013t0003 a0006c0010t0005 a0007c0013t0003	a0006c0010t0005g0055 a0007c0013t0003g0119 a0006c0010t0005g0055 a0007c0013t0003g0119	2	374	0.0053	17	c.793 others(32): Show c.793+333_793+334insGTTTTTTTTTTTTTTTT	CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA4_chr7_130288161_130329180	130308850	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03453.hp2 HG02615.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0023 a0001c0004t0010 a0001c0001t0023 a0001c0004t0010	a0001c0001t0023g0150 a0001c0004t0010g0170 a0001c0001t0023g0150 a0001c0004t0010g0170	2	360	0.0056	17	c.793 others(32): Show c.793+468_793+469insTTTTTTTTTTTTTTTTT	CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA6_chr8_67417038_67751360	67448639	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18906.hp1 NA19043.hp2 HG02723.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0014 a0001c0001t0001g0111 a0001c0001t0001g0125	3	63	0.0476	17	c.839 others(36): Show c.839-14400_839-14399insTTTTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67681200	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 HG03195.hp2 others(2): Show HG02615.hp1 HG02922.hp1 HG03195.hp2 NA18906.hp2 NA19066.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0001 a0002c0002t0001 a0007c0010t0001 a0001c0001t0001 a0002c0002t0001 a0007c0010t0001	a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0107 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0107 a0002c0002t0001g0130 a0007c0010t0001g0006	5	53	0.0943	17	c.117 others(36): Show c.117-56966_117-56950dupAAAAAAAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16987177	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0042 a0042	a0042c0051 a0042c0051	a0042c0051t0001 a0042c0051t0001	a0042c0051t0001g0083 a0042c0051t0001g0083	1	248	0.0040	17	c.139 others(36): Show c.1395+2465_1395+2466insATATATATATATATATA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0089 a0089	a0089c0082 a0089c0082	a0089c0082t0001 a0089c0082t0001	a0089c0082t0001g0068 a0089c0082t0001g0068	1	142	0.0070	17	c.139 others(36): Show c.1395+2463_1395+2464insATATATATATATATTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPEB1_chr15_82538201_82652363	82615295	G G	GACCTTGC others(10): Show GACCTTGCTTCATCTCAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0289 a0001c0001t0011g0289	1	352	0.0028	17	c.271 others(36): Show c.271+11881_271+11897dupGTGAGATGAAGCAAGGT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB3_chr10_92041692_92296078	92289718	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	115	0.0087	17	c.-12 others(34): Show c.-12+1207_-12+1208insTTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289732	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA20905.hp1 HG02155.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0002 a0001c0001t0043	a0001c0001t0002g0134 a0001c0001t0043g0277 a0001c0001t0002g0134 a0001c0001t0043g0277	2	209	0.0096	17	c.-12 others(34): Show c.-12+1193_-12+1194insATTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	120994657	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0006 a0004c0013t0006	a0004c0013t0006g0035 a0004c0013t0006g0035	1	111	0.0090	17	c.249 others(34): Show c.249+4790_249+4791insGTGTGTGTGTGTGTTGT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121088763	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01099.hp2 HG00621.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0127 a0002c0002t0002g0107 a0002c0002t0001g0127 a0002c0002t0002g0107	2	13	0.1538	17	c.617 others(34): Show c.617-8923_617-8907dupAAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121199693	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01081.hp2 others(6): Show HG00621.hp1 HG00621.hp2 HG01081.hp2 HG02622.hp1 HG02922.hp2 HG03139.hp1 HG04184.hp2 NA18941.hp2 NA18979.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0002c0002 a0006c0010 a0001c0003 a0002c0002 a0006c0010	a0001c0003t0004 a0001c0003t0013 a0002c0002t0001 others(5): Show a0001c0003t0004 a0001c0003t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0006c0010t0002	a0001c0003t0004g0066 a0001c0003t0013g0009 a0002c0002t0001g0074 others(6): Show a0001c0003t0004g0066 a0001c0003t0013g0009 a0002c0002t0001g0074 a0002c0002t0001g0127 a0002c0002t0002g0098 a0002c0002t0004g0131 a0002c0002t0005g0006 a0002c0002t0011g0132 a0006c0010t0002g0099	9	64	0.1406	17	c.205 others(38): Show c.2056-37021_2056-37020insGAAAGAAAGAAAGAAAG	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22			chr7	TogoVar
CPHXL_chr16_75709131_75731490	75725753	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01169.hp2 others(7): Show HG00621.hp2 HG01070.hp1 HG01169.hp2 HG01496.hp1 NA18941.hp1 NA18951.hp2 NA18961.hp1 NA18962.hp2 NA18974.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0098	10	86	0.1163	17	c.25+ others(30): Show c.25+648_25+664dupAAAAAAAAAAAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPHXL_chr16_75709131_75731490	75725774	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	386	0.0026	17	c.25+ others(30): Show c.25+643_25+644insGAAAAAAAAAAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37147971	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp1 HG00323.hp1 HG01109.hp1	a0010 a0010	a0010c0015 a0010c0025 a0010c0015 a0010c0025	a0010c0015t0001 a0010c0025t0001 a0010c0015t0001 a0010c0025t0001	a0010c0015t0001g0050 a0010c0025t0001g0049 a0010c0015t0001g0050 a0010c0025t0001g0049	2	161	0.0124	17	c.846 others(34): Show c.8461+193_8461+209dupTTTTTTTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	43/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37154459	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02055.hp1 HG03098.hp2 others(3): Show HG01515.hp1 HG02055.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp2 NA18906.hp1	a0001 a0005 a0010 others(1): Show a0001 a0005 a0010 a0020	a0001c0001 a0001c0045 a0005c0005 others(2): Show a0001c0001 a0001c0045 a0005c0005 a0010c0040 a0020c0035	a0001c0001t0009 a0001c0045t0001 a0005c0005t0002 others(2): Show a0001c0001t0009 a0001c0045t0001 a0005c0005t0002 a0010c0040t0001 a0020c0035t0002	a0001c0001t0009g0008 a0001c0045t0001g0197 a0005c0005t0002g0247 others(3): Show a0001c0001t0009g0008 a0001c0045t0001g0197 a0005c0005t0002g0247 a0005c0005t0002g0250 a0010c0040t0001g0052 a0020c0035t0002g0148	6	83	0.0723	17	c.812 others(34): Show c.8120-483_8120-467dupAAAAAAAAAAAAAAAAA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	41/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37187060	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 HG03195.hp1 HG03209.hp1	a0007 a0009 a0007 a0009	a0007c0007 a0009c0012 a0007c0007 a0009c0012	a0007c0007t0003 a0009c0012t0005 a0007c0007t0003 a0009c0012t0005	a0007c0007t0003g0045 a0009c0012t0005g0266 a0007c0007t0003g0045 a0009c0012t0005g0266	2	70	0.0286	17	c.408 others(34): Show c.4080+337_4080+353dupTTTTTTTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	23/52			chr5	TogoVar

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