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
COPZ2_chr17_48021167_48042797	48026119	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	341	0.0029	26	c.30 others(35): Show c.308_*309insGTGTGTGTGTGTGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		47		chr17	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp2 HG03041.hp1 others(9): Show HG00673.hp2 HG02083.hp2 HG03041.hp1 HG03453.hp1 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18953.hp2 NA18963.hp2 NA18978.hp1 NA19060.hp1 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0021 a0002c0003t0002 a0002c0003t0021	a0002c0003t0002g0007 a0002c0003t0002g0047 a0002c0003t0002g0049 others(3): Show a0002c0003t0002g0007 a0002c0003t0002g0047 a0002c0003t0002g0049 a0002c0003t0002g0062 a0002c0003t0002g0065 a0002c0003t0021g0058	12	59	0.2034	26	c.576 others(41): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01517.hp2 NA18955.hp2 others(2): Show HG00408.hp2 HG01517.hp2 NA18955.hp2 NA18960.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0300 a0001c0002t0001g0301 others(2): Show a0001c0002t0001g0041 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0309 a0001c0002t0001g0318	5	74	0.0676	26	c.114 others(45): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18979.hp2 NA20905.hp1 HG02027.hp1 NA18979.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0023 a0001c0002 a0001c0003 a0002c0023	a0001c0002t0001 a0001c0003t0001 a0002c0023t0001 a0001c0002t0001 a0001c0003t0001 a0002c0023t0001	a0001c0002t0001g0307 a0001c0003t0001g0195 a0002c0023t0001g0062 a0001c0002t0001g0307 a0001c0003t0001g0195 a0002c0023t0001g0062	3	72	0.0417	26	c.114 others(45): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(19): Show TATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0244 a0001c0004t0001g0244	1	70	0.0143	26	c.114 others(45): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	70	0.0143	26	c.114 others(45): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTATATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0047 a0001c0005t0001g0047	1	70	0.0143	26	c.114 others(45): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTATATATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697874	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0248 a0001c0004t0001g0248	1	388	0.0026	26	c.114 others(45): Show c.1144-1821_1144-1820insACTCTCTCTCTCTCTCTCTCTCTCTC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG04115.hp2 NA18954.hp2 others(5): Show HG02080.hp2 HG04115.hp2 NA18954.hp2 NA18966.hp1 NA18978.hp1 NA18984.hp1 NA19057.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0313 others(5): Show a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0313 a0001c0002t0001g0320 a0001c0002t0001g0326 a0001c0002t0001g0332 a0001c0002t0001g0336 a0001c0002t0001g0339	8	227	0.0352	26	c.114 others(45): Show c.1144-1822_1144-1821insGTCTCTCTCTCTCTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697876	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0052 a0003c0010t0001g0052	1	405	0.0025	26	c.114 others(45): Show c.1144-1823_1144-1822insACTCTCTCTCTCTCTCTCTCTCTCTC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0183 a0002c0003t0003g0183	1	94	0.0106	26	c.254 others(43): Show c.2540+474_2540+475insTATATATATATATATATAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp2 NA18906.hp1 HG02965.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0095 a0001c0001t0004g0099 a0001c0002t0004g0044 a0001c0001t0004g0095 a0001c0001t0004g0099 a0001c0002t0004g0044	3	96	0.0313	26	c.254 others(43): Show c.2540+474_2540+475insTATATATATATATATAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG02559.hp1 others(5): Show HG01515.hp2 HG01517.hp2 HG02559.hp1 HG02717.hp1 HG02922.hp2 NA18966.hp1 NA18967.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0075 a0001c0001t0001g0094 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0003g0140 a0001c0001t0004g0154	8	120	0.0667	26	c.201 others(43): Show c.201+3130_201+3131insTATATATATATATATATATATATACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02976.hp2 NA18906.hp2 others(1): Show HG02698.hp2 HG02976.hp2 NA18906.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0047 a0001c0001t0001g0102 a0001c0001t0008g0298 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0102 a0001c0001t0008g0298 a0001c0001t0008g0301	4	116	0.0345	26	c.201 others(43): Show c.201+3130_201+3131insTATATATATATATATATATATACACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154352	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp2 NA18906.hp1 HG02109.hp2 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0128 a0001c0001t0003g0144 a0001c0001t0003g0146	3	114	0.0263	26	c.201 others(43): Show c.201+3107_201+3108insGTGTATATATATATATATATATATAT	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02293.hp2 NA19074.hp2 HG02015.hp2 HG02293.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0085 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0085	3	178	0.0169	26	c.-30 others(37): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(19): Show GTATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02615.hp2 HG02895.hp1 others(12): Show HG00621.hp1 HG02615.hp2 HG02895.hp1 HG03098.hp1 HG03130.hp2 HG03540.hp2 NA18939.hp2 NA18943.hp2 NA18981.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19057.hp2 NA19083.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 others(12): Show a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0187 a0001c0001t0001g0212 a0001c0001t0002g0015 a0001c0001t0003g0086	15	87	0.1724	26	c.-49 others(45): Show c.-49-19486_-49-19485insTACATATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp1 HG02040.hp1 others(1): Show HG00423.hp1 HG01243.hp1 HG02040.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0002g0050 a0001c0001t0002g0055 others(1): Show a0001c0001t0001g0120 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0003g0226	4	9	0.4444	26	c.-49 others(45): Show c.-49-19488_-49-19487insTATATATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTATATAT others(19): Show GTATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	6	0.1667	26	c.-49 others(45): Show c.-49-19488_-49-19487insTATACATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03017.hp1 HG03239.hp1 others(3): Show HG00735.hp2 HG03017.hp1 HG03239.hp1 NA18982.hp1 NA19058.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0180 a0001c0001t0001g0181 others(3): Show a0001c0001t0001g0117 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0222	6	11	0.5455	26	c.-49 others(45): Show c.-49-19488_-49-19487insTATATATATATATATATATATATACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	6	0.1667	26	c.-49 others(45): Show c.-49-19488_-49-19487insTATATATATATATATATATATACACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	6	0.1667	26	c.-49 others(45): Show c.-49-19488_-49-19487insTATATATATATATATATATACACACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPA3_chr3_148860296_148902203	148891497	C C	CACACACA others(19): Show CACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0228 a0001c0001t0005g0228	1	398	0.0025	26	c.106 others(45): Show c.1067-5008_1067-5007insCACACACACATACACACACACACACA	CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPA6_chr8_67417038_67751360	67448639	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02145.hp2 HG02258.hp2 others(4): Show HG01069.hp2 HG02145.hp2 HG02258.hp2 HG02895.hp2 HG02922.hp1 HG03041.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0066 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0131 a0001c0001t0001g0139 a0002c0002t0001g0065 a0002c0002t0001g0130	7	67	0.1045	26	c.839 others(45): Show c.839-14400_839-14399insTTTTTTTTTTTTTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03471.hp2 HG00140.hp2 HG03471.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0007 a0003c0003 a0009c0007	a0003c0003t0001 a0009c0007t0001 a0003c0003t0001 a0009c0007t0001	a0003c0003t0001g0077 a0009c0007t0001g0132 a0003c0003t0001g0077 a0009c0007t0001g0132	2	66	0.0303	26	c.193 others(45): Show c.193-42114_193-42113insATATATATATATATATATATATATAT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67716151	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	64	0.0156	26	c.116 others(45): Show c.116+29837_116+29862dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16938123	T T	TCCTGTGT others(19): Show TCCTGTGTATTCATTCCCTGCGTATTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0176 a0002c0176	a0002c0176t0001 a0002c0176t0001	a0002c0176t0001g0014 a0002c0176t0001g0014	1	276	0.0036	26	c.284 others(43): Show c.2845+246_2845+271dupGAATACGCAGGGAATGAATACACAGG	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	23/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	196	0.0051	26	c.981 others(43): Show c.981+1172_981+1173insGTATATATATATATATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148849012	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	443	0.0023	26	c.981 others(43): Show c.981+3410_981+3411insTTTTTTTTTTTTTTTTTTTTTTTTTT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46108155	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	328	0.0030	26	c.-31 others(37): Show c.-3147_-3146insTATATATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3123		chr13	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01496.hp2 HG01934.hp1 others(8): Show HG01099.hp2 HG01496.hp2 HG01934.hp1 HG02615.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 NA18956.hp2 NA18959.hp2 NA19007.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0007t0005 a0002c0002t0001 a0002c0002t0002 a0002c0007t0005	a0002c0002t0001g0019 a0002c0002t0002g0007 a0002c0002t0002g0008 others(7): Show a0002c0002t0001g0019 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0130 a0002c0002t0002g0139 a0002c0002t0002g0143 a0002c0007t0005g0123 a0002c0007t0005g0124	11	53	0.2075	26	c.-31 others(37): Show c.-3149_-3148insTATATATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPD_chr17_30373927_30474989	30470280	C C	CATACATA others(19): Show CATACATACGTGTGTATGTATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	294	0.0034	26	c.54 others(37): Show c.5466_*5467insATACATACGTGTGTATGTATATGTAT	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding		292		chr17	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAACAAGCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG01070.hp1 others(41): Show HG00609.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02273.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG03239.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp2 NA18975.hp2 NA18995.hp2 NA18999.hp2 NA19007.hp1 NA19009.hp1 NA19068.hp1 NA19082.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0036 a0001c0001t0039 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0014 a0001c0002t0027	a0001c0001t0001g0108 a0001c0001t0003g0102 a0001c0001t0003g0103 others(41): Show a0001c0001t0001g0108 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0128 a0001c0001t0003g0132 a0001c0001t0009g0109 a0001c0001t0010g0107 a0001c0001t0010g0120 a0001c0001t0011g0273 a0001c0001t0017g0123 a0001c0001t0017g0129 a0001c0001t0021g0115 a0001c0001t0025g0130 a0001c0001t0036g0272 a0001c0001t0039g0276 a0001c0002t0001g0008 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0003g0020 a0001c0002t0003g0022 a0001c0002t0003g0030 a0001c0002t0003g0032 a0001c0002t0003g0034 a0001c0002t0003g0039 a0001c0002t0003g0085 a0001c0002t0003g0093 a0001c0002t0010g0007 a0001c0002t0014g0019 a0001c0002t0014g0072 a0001c0002t0014g0089 a0001c0002t0027g0021	44	106	0.4151	26	c.145 others(45): Show c.1454-8905_1454-8904insTGCTTGTTTTTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAACAAGCAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp2 HG02622.hp2 others(10): Show HG01081.hp1 HG01433.hp2 HG02622.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0024 a0001c0001t0035 a0001c0004t0011 a0001c0004t0032	a0001c0001t0002g0005 a0001c0001t0005g0246 a0001c0001t0005g0252 others(10): Show a0001c0001t0002g0005 a0001c0001t0005g0246 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0262 a0001c0001t0005g0264 a0001c0001t0015g0265 a0001c0001t0024g0261 a0001c0001t0035g0275 a0001c0004t0011g0254 a0001c0004t0032g0266	13	75	0.1733	26	c.145 others(45): Show c.1454-8905_1454-8904insTTGCTTGTTTTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121117077	T T	TTATATAT others(19): Show TTATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0050 a0004c0009t0001g0050	1	36	0.0278	26	c.919 others(43): Show c.919-7232_919-7231insTAAATATATATATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121117077	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	36	0.0278	26	c.919 others(43): Show c.919-7232_919-7231insTATATATATATATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121189760	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0054 a0001c0008t0001g0054	1	63	0.0159	26	c.205 others(47): Show c.2056-46941_2056-46916dupTATATATATATATATATATATATA TA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121194022	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	56	0.0179	26	c.205 others(47): Show c.2056-42691_2056-42690insCTCTCTCTCTCTCTCTCTCTCTAT AT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121294806	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	120	0.0083	26	c.286 others(43): Show c.2869-618_2869-617insAAAAAAAAAAAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02109.hp1 HG02300.hp1 others(7): Show HG01928.hp2 HG02109.hp1 HG02300.hp1 HG02615.hp2 HG03130.hp1 HG03579.hp1 HG03579.hp2 NA18966.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0007t0002	a0001c0001t0001g0018 a0001c0001t0001g0101 a0001c0001t0001g0150 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0101 a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0001t0002g0047 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0315 a0001c0001t0005g0151 a0001c0007t0002g0312	10	158	0.0633	26	c.308 others(43): Show c.308-3203_308-3202insAAAAAAAAAAGAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGACAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01496.hp1 HG01934.hp2 others(9): Show HG00609.hp2 HG01496.hp1 HG01934.hp2 HG03688.hp1 NA18964.hp1 NA18965.hp2 NA19005.hp1 NA19058.hp1 NA19062.hp1 NA19082.hp1 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0053 a0001c0001t0068	a0001c0001t0002g0002 a0001c0001t0002g0061 a0001c0001t0010g0002 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0061 a0001c0001t0010g0002 a0001c0001t0011g0002 a0001c0001t0015g0002 a0001c0001t0053g0002 a0001c0001t0068g0081	12	310	0.0387	26	c.-38 others(35): Show c.-384_-383insGAGAGAGAGAGAGAGAGAGACAGAGA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871417	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGACAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	26	c.-37 others(35): Show c.-377_-376insAGAGAGAGAGAGACAGAGAGAGAGAA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		160		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871427	G G	GAGAGAGA others(19): Show GAGAGAGACAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0007 a0001c0001t0017g0007	1	375	0.0027	26	c.-36 others(35): Show c.-367_-366insAGAGAGACAGAGAGAGAGAGAGAGAA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		150		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAAAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03139.hp1 HG02970.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0018 a0001c0001t0014g0018	2	64	0.0313	26	c.-36 others(35): Show c.-361_-360insAGAGAGAGAGAGAGAGAAAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	63	0.0159	26	c.-36 others(35): Show c.-361_-360insAGAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871454	A A	AGAGAGAG others(19): Show AGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 NA18998.hp1 NA20300.hp1 HG01981.hp2 NA18998.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	373	0.0080	26	c.-34 others(35): Show c.-340_-339insGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		123		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0055 a0001c0001t0021g0055	1	330	0.0030	26	c.-33 others(35): Show c.-338_-337insGAGAGAGAGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGAG others(19): Show AGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02071.hp1 HG02523.hp2 HG01261.hp2 HG02071.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	332	0.0090	26	c.-33 others(35): Show c.-338_-337insGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 NA18939.hp2 HG01261.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0050 a0001c0001t0002 a0001c0001t0050	a0001c0001t0002g0013 a0001c0001t0050g0002 a0001c0001t0002g0013 a0001c0001t0050g0002	2	213	0.0094	26	c.-33 others(35): Show c.-336_-335insGAGAGAGAGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(19): Show AGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18942.hp2 NA18955.hp1 others(1): Show HG00621.hp2 NA18942.hp2 NA18955.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0003g0016	4	215	0.0186	26	c.-33 others(35): Show c.-336_-335insGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar

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