Joint Open Genome and Omics Platform (JoGo)

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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
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG02523.hp2 others(4): Show HG00438.hp2 HG00621.hp1 HG02523.hp2 HG02622.hp1 HG03209.hp2 NA18967.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0001 a0001c0003 a0001c0005 a0002c0001	a0001c0003t0001 a0001c0005t0001 a0002c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0001t0001	a0001c0003t0001g0012 a0001c0003t0001g0227 a0001c0005t0001g0079 others(2): Show a0001c0003t0001g0012 a0001c0003t0001g0227 a0001c0005t0001g0079 a0002c0001t0001g0348 a0002c0001t0001g0349	7	410	0.0171	18	c.114 others(37): Show c.1144-1822_1144-1821insGCCTCTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTAT others(11): Show CTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp2 HG00621.hp1 HG02027.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0004 a0001c0001t0004 a0002c0003t0004	a0001c0001t0004g0092 a0002c0003t0004g0200 a0001c0001t0004g0092 a0002c0003t0004g0200	2	264	0.0076	18	c.254 others(35): Show c.2540+474_2540+475insTATATATATATATAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	264	0.0038	18	c.254 others(35): Show c.2540+474_2540+475insTATATATATATAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18953.hp1 HG02451.hp2 NA18953.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0001 a0001c0001t0004 a0002c0004t0001	a0001c0001t0004g0064 a0002c0004t0001g0260 a0001c0001t0004g0064 a0002c0004t0001g0260	2	264	0.0076	18	c.254 others(35): Show c.2540+474_2540+475insTATATATATAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03130.hp2 NA19003.hp1 HG02523.hp2 HG03130.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0004 a0001c0001t0001 a0002c0003t0004	a0001c0001t0001g0056 a0002c0003t0004g0192 a0002c0003t0004g0198 a0001c0001t0001g0056 a0002c0003t0004g0192 a0002c0003t0004g0198	3	264	0.0114	18	c.254 others(35): Show c.2540+474_2540+475insTATATATAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02451.hp1 others(3): Show HG01891.hp1 HG02257.hp1 HG02451.hp1 HG02809.hp2 HG03516.hp2 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0002c0003t0004	a0001c0001t0001g0048 a0001c0001t0003g0103 a0001c0001t0007g0106 others(3): Show a0001c0001t0001g0048 a0001c0001t0003g0103 a0001c0001t0007g0106 a0001c0001t0007g0110 a0001c0001t0010g0100 a0002c0003t0004g0194	6	264	0.0227	18	c.254 others(35): Show c.2540+474_2540+475insTATATAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp1 HG02280.hp2 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0032 a0002c0003 a0002c0032	a0002c0003t0003 a0002c0032t0003 a0002c0003t0003 a0002c0032t0003	a0002c0003t0003g0231 a0002c0032t0003g0259 a0002c0003t0003g0231 a0002c0032t0003g0259	2	264	0.0076	18	c.254 others(35): Show c.2540+474_2540+475insTATAGAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0184 a0002c0003t0003g0184	1	264	0.0038	18	c.254 others(35): Show c.2540+474_2540+475insTAGAGAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47757878	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0006 a0001c0026t0001g0006	1	264	0.0038	18	c.617 others(35): Show c.617+5483_617+5500dupTATATATATATATATATA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	4/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47761480	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02723.hp2 others(3): Show HG02559.hp2 HG02615.hp2 HG02723.hp2 HG03209.hp1 HG03486.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0029 a0001c0002 a0001c0006 a0002c0029	a0001c0002t0001 a0001c0006t0002 a0002c0029t0002 a0001c0002t0001 a0001c0006t0002 a0002c0029t0002	a0001c0002t0001g0096 a0001c0002t0001g0160 a0001c0006t0002g0158 others(3): Show a0001c0002t0001g0096 a0001c0002t0001g0160 a0001c0006t0002g0158 a0001c0006t0002g0159 a0001c0006t0002g0161 a0002c0029t0002g0257	6	264	0.0227	18	c.617 others(35): Show c.617+1881_617+1898dupGTGTGTGTGTGTGTGTGT	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	4/21			chr4	TogoVar
CORO1A_chr16_30178602_30194076	30183212	C C	CCGCGCCC others(11): Show CCGCGCCCCTCGCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA19056.hp2 NA18995.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	342	0.0059	18	c.-53 others(27): Show c.-532_-515dupCGCGCCCCTCGCGCCCCC	CORO1A	ENSG00000102879.17	transcript	ENST00000219150.10	protein_coding		389		chr16	TogoVar
CORO1C_chr12_108640109_108736518	108695851	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0014 a0004c0005t0014	a0004c0005t0014g0134 a0004c0005t0014g0134	1	326	0.0031	18	c.195 others(35): Show c.195+5255_195+5272dupTTTTTTTTTTTTTTTTTT	CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	2/10			chr12	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	342	0.0029	18	c.49 others(29): Show c.4975_*4976insAAAAAAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1176		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTATATAT others(11): Show GTATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02109.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0077 a0001c0001t0013g0078 a0001c0001t0013g0077 a0001c0001t0013g0078	2	342	0.0059	18	c.201 others(35): Show c.201+3130_201+3131insTACATATATATATATATA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	342	0.0029	18	c.201 others(35): Show c.201+3130_201+3131insTATATATATATATATACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154352	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp2 others(27): Show HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00738.hp1 HG00741.hp1 HG01261.hp1 HG01515.hp1 HG02071.hp1 HG02135.hp1 HG02135.hp2 HG02523.hp1 HG02683.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp2 NA18939.hp1 NA18942.hp1 NA18949.hp2 NA18986.hp2 NA18999.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0039	a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0086 others(27): Show a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0253 a0001c0001t0001g0264 a0001c0001t0002g0022 a0001c0001t0002g0098 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0169 a0001c0001t0002g0185 a0001c0001t0002g0213 a0001c0001t0002g0234 a0001c0001t0002g0250 a0001c0001t0002g0262 a0001c0001t0003g0282 a0001c0001t0003g0296 a0001c0001t0004g0067 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0005g0251 a0001c0001t0015g0328 a0001c0001t0018g0324 a0001c0001t0019g0321 a0001c0001t0039g0024	30	342	0.0877	18	c.201 others(35): Show c.201+3107_201+3108insGTATATATATATATATAT	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98163741	T T	TGTGTATG others(11): Show TGTGTATGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02257.hp2 HG02922.hp1 others(17): Show HG02040.hp1 HG02257.hp2 HG02922.hp1 HG03041.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18992.hp2 NA19005.hp2 NA19007.hp1 NA19070.hp2 NA19074.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0008 a0001c0001 a0001c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0033 a0001c0001t0037 a0001c0003t0014 a0004c0008t0002	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0074 others(17): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0002g0108 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0003g0124 a0001c0001t0005g0106 a0001c0001t0005g0179 a0001c0001t0008g0304 a0001c0001t0033g0138 a0001c0001t0037g0166 a0001c0003t0014g0327 a0004c0008t0002g0223	20	342	0.0585	18	c.1-6 others(31): Show c.1-6082_1-6081insTCACACACACACATACAC	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	1/11			chr9	TogoVar
CORO2B_chr15_68573993_68732806	68672159	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00741.hp1 others(21): Show HG00140.hp2 HG00621.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp2 HG01256.hp2 HG01258.hp2 HG02135.hp1 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG04228.hp1 NA18906.hp2 NA18947.hp1 NA18964.hp1 NA19002.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0020 a0001c0002t0002 a0001c0003t0006 a0001c0004t0005 a0001c0005t0003	a0001c0001t0001g0028 a0001c0001t0001g0085 a0001c0001t0001g0087 others(21): Show a0001c0001t0001g0028 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0003g0123 a0001c0001t0003g0143 a0001c0001t0004g0017 a0001c0001t0004g0026 a0001c0001t0004g0214 a0001c0001t0005g0029 a0001c0001t0005g0046 a0001c0001t0005g0124 a0001c0001t0006g0236 a0001c0001t0007g0184 a0001c0001t0009g0014 a0001c0001t0020g0203 a0001c0002t0002g0044 a0001c0003t0006g0118 a0001c0004t0005g0233 a0001c0005t0003g0109	24	256	0.0938	18	c.217 others(37): Show c.217-22972_217-22955dupGTGTGTGTGTGTGTGTGT	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO2B_chr15_68573993_68732806	68701297	G G	GTTTCTTT others(11): Show GTTTCTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02896.hp1 HG02257.hp2 HG02896.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0005 a0003c0007t0006 a0001c0001t0005 a0003c0007t0006	a0001c0001t0005g0110 a0003c0007t0006g0186 a0001c0001t0005g0110 a0003c0007t0006g0186	2	256	0.0078	18	c.333 others(35): Show c.333+6054_333+6071dupCTTTTTTTTCTTTTTTTT	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO7_chr16_4349542_4421596	4400797	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02970.hp1 HG02615.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0264 a0003c0003t0001g0265	2	297	0.0067	18	c.564 others(35): Show c.564+4676_564+4693dupATTATTATTATTATTATT	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	6/27			chr16	TogoVar
COTL1_chr16_84560596_84623078	84615853	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp1 HG03225.hp1 HG02559.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0001 a0001c0001t0002 a0001c0001t0026	a0001c0001t0001g0251 a0001c0001t0002g0250 a0001c0001t0026g0252 a0001c0001t0001g0251 a0001c0001t0002g0250 a0001c0001t0026g0252	3	440	0.0068	18	c.160 others(35): Show c.160+1630_160+1647dupCACACACACACACACACA	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
COX16_chr14_70320081_70364683	70328072	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp2 NA19064.hp2 others(1): Show HG02976.hp1 HG03471.hp2 NA19064.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0002g0154 a0001c0001t0002g0173 others(1): Show a0001c0001t0001g0059 a0001c0001t0002g0154 a0001c0001t0002g0173 a0001c0001t0002g0179	4	376	0.0106	18	c.204 others(35): Show c.204+1084_204+1101dupAAAAAAAAAAAAAAAAAA	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	3/3			chr14	TogoVar
COX16_chr14_70320081_70364683	70354841	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	376	0.0027	18	c.69+ others(33): Show c.69+4660_69+4677dupACACACACACACACACAC	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	1/3			chr14	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA19009.hp2 NA18987.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	384	0.0052	18	c.434 others(33): Show c.434+164_434+165insATATATATATTTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03710.hp1 NA19060.hp1 others(1): Show HG01099.hp2 HG03710.hp1 NA19060.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0021 a0001c0002t0002g0182 a0001c0001t0001g0021 a0001c0002t0002g0182	4	384	0.0104	18	c.434 others(33): Show c.434+164_434+165insATATATATATATTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00741.hp1 others(4): Show HG00140.hp2 HG00280.hp2 HG00741.hp1 HG01516.hp2 HG01928.hp1 HG02738.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0020 a0001c0002t0002g0049 a0001c0002t0002g0067 others(1): Show a0001c0001t0001g0020 a0001c0002t0002g0049 a0001c0002t0002g0067 a0001c0002t0002g0193	7	384	0.0182	18	c.434 others(33): Show c.434+164_434+165insATATATATATATATTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX6B1_chr19_35643323_35663782	35655755	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	440	0.0023	18	c.207 others(35): Show c.207+1100_207+1117dupCTCTCTCTCTCTCTCTCT	COX6B1	ENSG00000126267.11	transcript	ENST00000649813.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
COX6C_chr8_99872865_99898707	99876001	A A	AACAGGGC others(11): Show AACAGGGCCCTATATGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	18	c.22 others(29): Show c.2262_*2279dupGAACATATAGGGCCCTGT	COX6C	ENSG00000164919.11	transcript	ENST00000520468.7	protein_coding		1863		chr8	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0091	1	406	0.0025	18	c.-31 others(29): Show c.-3107_-3090dupTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46754716	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	300	0.0033	18	c.-49 others(37): Show c.-49-19476_-49-19475insTATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754718	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18945.hp2 NA18948.hp2 HG02071.hp1 NA18945.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0097 a0001c0001t0003g0277 a0001c0001t0005g0005 a0001c0001t0001g0097 a0001c0001t0003g0277 a0001c0001t0005g0005	3	300	0.0100	18	c.-49 others(37): Show c.-49-19478_-49-19477insTATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754722	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	300	0.0033	18	c.-49 others(37): Show c.-49-19482_-49-19481insTATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754724	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	300	0.0033	18	c.-49 others(37): Show c.-49-19484_-49-19483insTATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0217 a0001c0001t0001g0091 a0001c0001t0001g0217	2	300	0.0067	18	c.-49 others(37): Show c.-49-19486_-49-19485insTATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	300	0.0033	18	c.-49 others(37): Show c.-49-19505_-49-19488dupTATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG00639.hp1 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0284 a0001c0001t0001g0285	2	300	0.0067	18	c.-49 others(37): Show c.-49-19488_-49-19487insTATATATATATATATACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46841335	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	300	0.0033	18	c.-50 others(35): Show c.-50+3607_-50+3624dupCACACACACACACACACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46880993	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG00642.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0147 a0001c0001t0001g0162	2	300	0.0067	18	c.-10 others(39): Show c.-105+28149_-105+28166dupTTTTTTTTTTTTTTTTTT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46907848	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp2 others(14): Show HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00673.hp2 HG01070.hp1 HG01074.hp1 HG02004.hp1 HG02083.hp1 HG02132.hp1 HG02280.hp2 HG02897.hp2 HG03239.hp2 HG03490.hp1 HG04199.hp2 NA18945.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(14): Show a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0004g0008 a0001c0001t0004g0035	17	300	0.0567	18	c.-10 others(37): Show c.-105+1294_-105+1311dupAAAAAAAAAAAAAAAAAA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
CPA1_chr7_130375494_130393108	130392347	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	434	0.0023	18	c.43 others(29): Show c.4336_*4337insACACACACACACACACAC	CPA1	ENSG00000091704.10	transcript	ENST00000011292.8	protein_coding		4240		chr7	TogoVar
CPA2_chr7_130261863_130294798	130267771	T T	TCTCTTCT others(11): Show TCTCTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	400	0.0025	18	c.71+ others(31): Show c.71+819_71+820insCTCTTCTTTCTTTCTTTC	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10			chr7	TogoVar
CPA6_chr8_67417038_67751360	67543774	C C	CTATTATT others(11): Show CTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19066.hp2 HG02109.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0143 a0001c0001t0001g0085 a0001c0001t0001g0143	2	144	0.0139	18	c.193 others(37): Show c.193-25745_193-25728dupATAATAATAATAATAATA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19043.hp2 NA19077.hp2 NA18964.hp1 NA19043.hp2 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0035 a0001c0001t0001g0110 a0004c0005t0001g0060 a0001c0001t0001g0035 a0001c0001t0001g0110 a0004c0005t0001g0060	3	144	0.0208	18	c.193 others(37): Show c.193-42131_193-42114dupATATATATATATATATAT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607146	C C	CCCTCCTC others(11): Show CCCTCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	144	0.0069	18	c.192 others(37): Show c.192+17029_192+17030insAGGGGGAGGGGGAGGAGG	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67630110	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03471.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0001 a0009c0007t0001 a0001c0001t0001 a0009c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0001g0116 a0009c0007t0001g0132	5	144	0.0347	18	c.117 others(35): Show c.117-5877_117-5860dupATTATTATTATTATTATT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67642793	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	144	0.0069	18	c.117 others(37): Show c.117-18560_117-18543dupTGTGTGTGTGTGTGTGTG	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67673353	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	144	0.0069	18	c.117 others(37): Show c.117-49120_117-49103dupTAATAATAATAATAATAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67681200	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01069.hp1 others(14): Show HG00140.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01255.hp1 HG01261.hp1 HG02258.hp2 HG02970.hp2 HG03041.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03688.hp1 NA18991.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0086 a0001c0001t0001g0089 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0095 a0002c0002t0001g0065 a0002c0002t0001g0074 a0003c0003t0001g0077	17	144	0.1181	18	c.117 others(37): Show c.117-56967_117-56950dupAAAAAAAAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67713099	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0113 a0001c0001t0001g0114	2	144	0.0139	18	c.116 others(37): Show c.116+32914_116+32915insTATATACACACACACACA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67713099	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp1 HG02451.hp1 HG03540.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0008 a0001c0001 a0010c0008	a0001c0001t0001 a0010c0008t0001 a0001c0001t0001 a0010c0008t0001	a0001c0001t0001g0123 a0010c0008t0001g0124 a0001c0001t0001g0123 a0010c0008t0001g0124	2	144	0.0139	18	c.116 others(37): Show c.116+32914_116+32915insTATACACACACACACACA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar

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