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
CPLX2_chr5_175866578_175889021	175871462	A A	AGAGAGAG others(19): Show AGAGAGAGAAAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0051 a0001c0001t0045g0051	1	374	0.0027	26	c.-33 others(35): Show c.-332_-331insGAGAGAGAAAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		115		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871462	A A	AGAGAGAG others(19): Show AGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0008 a0001c0001t0023g0008	1	374	0.0027	26	c.-33 others(35): Show c.-332_-331insGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		115		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AGAGAGAG others(19): Show AGAGAGAGAAAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03195.hp2 NA18906.hp2 others(1): Show HG03017.hp1 HG03195.hp2 NA18906.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0037	a0001c0001t0001g0004 a0001c0001t0004g0004 a0001c0001t0012g0004 others(1): Show a0001c0001t0001g0004 a0001c0001t0004g0004 a0001c0001t0012g0004 a0001c0001t0037g0004	4	335	0.0119	26	c.-33 others(35): Show c.-330_-329insGAGAGAGAAAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA19084.hp2 HG02027.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0041 a0001c0001t0013g0050 a0001c0001t0004g0041 a0001c0001t0013g0050	2	333	0.0060	26	c.-33 others(35): Show c.-330_-329insGAGAGAGAGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01099.hp2 others(16): Show HG00558.hp1 HG00609.hp1 HG01099.hp2 HG01106.hp2 HG01261.hp2 HG02015.hp1 HG02055.hp1 HG02155.hp1 HG02630.hp2 HG02896.hp1 HG03130.hp2 HG03669.hp1 HG03834.hp2 HG03927.hp2 NA18949.hp2 NA19076.hp1 NA19084.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0006c0013	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0006t0031 a0002c0003t0024 a0006c0013t0006	a0001c0001t0001g0076 a0001c0001t0001g0131 a0001c0001t0001g0193 others(16): Show a0001c0001t0001g0076 a0001c0001t0001g0131 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0231 a0001c0001t0001g0246 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0006g0204 a0001c0002t0001g0083 a0001c0002t0001g0107 a0001c0002t0001g0122 a0001c0002t0001g0227 a0001c0002t0001g0282 a0001c0002t0001g0305 a0001c0002t0003g0270 a0001c0006t0031g0241 a0002c0003t0024g0330 a0006c0013t0006g0035	19	184	0.1033	26	c.92 others(37): Show c.9240_*9241insTATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPN2_chr3_194334768_194356328	194347634	C C	CCCCATCC others(19): Show CCCCATCCTCTGCCCAGTTCAGCCCAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02698.hp1 HG01168.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0165 a0001c0002t0003g0166	2	438	0.0046	26	c.-4+ others(41): Show c.-4+3607_-4+3608insTTGGGCTGAACTGGGCAGAGGATGGG	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG02486.hp1 HG03041.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0006 a0003c0004 a0004c0006	a0003c0004t0007 a0004c0006t0011 a0003c0004t0007 a0004c0006t0011	a0003c0004t0007g0168 a0004c0006t0011g0167 a0003c0004t0007g0168 a0004c0006t0011g0167	2	111	0.0180	26	c.-10 others(41): Show c.-10-565_-10-564insTTTTTTTTTTTTTTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131955410	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0031 a0001c0003t0003g0031	1	35	0.0286	26	c.-1- others(43): Show c.-1-49967_-1-49966insAAAAAAAAAAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131960120	T T	TGGAGAGG others(19): Show TGGAGAGGGAGGGAGGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG02258.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0059 a0001c0001t0001g0015 a0001c0001t0001g0059	2	43	0.0465	26	c.-1- others(43): Show c.-1-54702_-1-54677dupTCCCTCCCTCTCCTCCCTCCCTCTCC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132039884	C C	CCACTCCA others(19): Show CCACTCCAGTAACCACATGACAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	92	0.0109	26	c.-53 others(37): Show c.-5320_-5319insTGGATTGTCATGTGGTTACTGGAGTG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding		4871		chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587718	A A	ACCCGCGT others(19): Show ACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0010 a0001c0013t0002g0010	1	333	0.0030	26	c.927 others(41): Show c.927+619_927+620insGCGTGTCACCCACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587767	C C	CCCACAGA others(19): Show CCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0013 a0001c0008t0002g0013	1	344	0.0029	26	c.927 others(41): Show c.927+672_927+673insTACACGGCCCCCGTGTCAGCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587887	G G	GCGTGTCA others(19): Show GCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG03098.hp2 HG00280.hp1 HG00544.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0002t0004 a0001c0007t0006 a0001c0002t0002 a0001c0002t0004 a0001c0007t0006	a0001c0002t0002g0190 a0001c0002t0004g0126 a0001c0007t0006g0156 a0001c0002t0002g0190 a0001c0002t0004g0126 a0001c0007t0006g0156	3	306	0.0098	26	c.928 others(41): Show c.928-777_928-752dupACAGATACACGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587932	C C	CCCACAGA others(19): Show CCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0316 a0002c0004t0002g0316	1	340	0.0029	26	c.928 others(41): Show c.928-724_928-723insGTGTCAGCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587947	C C	CCCCCCGT others(19): Show CCCCCCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01496.hp2 others(6): Show HG01070.hp2 HG01071.hp1 HG01496.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0018 a0001c0001 a0001c0005 a0006c0018	a0001c0001t0001 a0001c0005t0002 a0006c0018t0002 a0001c0001t0001 a0001c0005t0002 a0006c0018t0002	a0001c0001t0001g0241 a0001c0005t0002g0001 a0001c0005t0002g0202 others(4): Show a0001c0001t0001g0241 a0001c0005t0002g0001 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0234 a0001c0005t0002g0243 a0006c0018t0002g0001	9	329	0.0274	26	c.928 others(41): Show c.928-719_928-718insCACCCACAGATACACGGCCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587985	C C	CCCACAGA others(19): Show CCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0001 a0001c0005t0002g0001	2	335	0.0060	26	c.928 others(41): Show c.928-671_928-670insGTGTCAGCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588042	G G	GCGTGTCA others(19): Show GCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0153 a0001c0002t0004g0153	1	320	0.0031	26	c.928 others(41): Show c.928-631_928-606dupGTGTCACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588132	G G	GCGTGTCA others(19): Show GCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03579.hp2 HG02572.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0001 a0001c0002t0001 a0001c0015t0001	a0001c0002t0001g0033 a0001c0015t0001g0322 a0001c0002t0001g0033 a0001c0015t0001g0322	2	301	0.0066	26	c.928 others(41): Show c.928-532_928-507dupACAGATACACGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588140	C C	CCCACAGA others(19): Show CCCACAGATACATGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0317 a0001c0002t0004g0317	1	342	0.0029	26	c.928 others(41): Show c.928-524_928-523insTGGCCCCCGTGTCAGCCACAGATACA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588177	C C	CCCACAGA others(19): Show CCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	345	0.0029	26	c.928 others(41): Show c.928-473_928-472insGCCACAGATACACGGCCCCCGTGTCA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(19): Show GCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00733.hp2 others(24): Show HG00544.hp2 HG00558.hp2 HG00733.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02300.hp2 HG03471.hp1 HG03540.hp1 NA18612.hp2 NA18940.hp1 NA18943.hp1 NA18946.hp1 NA18959.hp1 NA18966.hp1 NA19009.hp1 NA19011.hp2 NA19074.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0006 a0005c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0002c0003t0003 a0002c0004t0002 a0003c0006t0003 a0005c0014t0001	a0001c0001t0001g0051 a0001c0001t0001g0093 a0001c0001t0001g0180 others(24): Show a0001c0001t0001g0051 a0001c0001t0001g0093 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0213 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0273 a0001c0001t0001g0331 a0001c0002t0001g0029 a0001c0002t0002g0045 a0001c0002t0002g0199 a0001c0002t0002g0248 a0001c0002t0002g0307 a0001c0002t0003g0282 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0231 a0001c0002t0004g0317 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0004t0002g0305 a0003c0006t0003g0005 a0003c0006t0003g0152 a0003c0006t0003g0267 a0003c0006t0003g0268 a0005c0014t0001g0012	27	258	0.1047	26	c.928 others(41): Show c.928-458_928-433dupACAGATACACGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588212	C C	CACCCACA others(19): Show CACCCACAGATACACGGCCCCCGTGTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0131 a0002c0003t0003g0131	1	342	0.0029	26	c.928 others(41): Show c.928-438_928-437insTACCCACAGATACACGGCCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588214	C C	CCCACAGA others(19): Show CCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	344	0.0029	26	c.928 others(41): Show c.928-436_928-435insGCCACAGATACACGGCCCCCGTGTCA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(19): Show GTATATATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02015.hp1 HG02486.hp2 others(9): Show HG00639.hp1 HG02015.hp1 HG02486.hp2 HG02809.hp1 HG02896.hp1 HG03041.hp1 NA18939.hp1 NA18941.hp2 NA18961.hp2 NA18981.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0004t0002	a0001c0001t0007g0335 a0001c0001t0007g0336 a0001c0001t0007g0337 others(9): Show a0001c0001t0007g0335 a0001c0001t0007g0336 a0001c0001t0007g0337 a0001c0001t0007g0338 a0001c0001t0007g0339 a0001c0002t0002g0044 a0001c0002t0002g0050 a0001c0002t0002g0274 a0001c0002t0002g0299 a0001c0002t0004g0056 a0001c0002t0008g0216 a0001c0004t0002g0023	12	162	0.0741	26	c.915 others(43): Show c.915-1906_915-1905insTATATATATATATACACATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38704832	A A	ATATGTGT others(19): Show ATATGTGTATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	332	0.0030	26	c.915 others(43): Show c.915-1912_915-1911insCACATATATATATATATATACACATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717427	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18906.hp1 HG00735.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0305 a0001c0001t0006g0264 a0001c0001t0004g0305 a0001c0001t0006g0264	2	213	0.0094	26	c.914 others(43): Show c.914+6344_914+6345insTATATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	50	0.0200	26	c.914 others(43): Show c.914+6342_914+6343insTATATATATATATATATATATATACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTGTATGT others(19): Show GTGTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	50	0.0200	26	c.914 others(43): Show c.914+6342_914+6343insTATATATATATATATATATACATACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717458	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	337	0.0030	26	c.914 others(43): Show c.914+6313_914+6314insGTATATATATATATATATATATATAT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03130.hp2 HG02809.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0330 a0001c0001t0007g0338 a0001c0001t0001g0330 a0001c0001t0007g0338	2	136	0.0147	26	c.722 others(41): Show c.722+411_722+412insTATATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE9_chr3_9698833_9734908	9725628	A A	ATGTATAT others(19): Show ATGTATATACATGTATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA20300.hp2 HG02896.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0369 a0001c0001t0001g0366 a0001c0001t0001g0369	2	386	0.0052	26	c.124 others(43): Show c.1242-312_1242-287dupCATGTATGTGTATATATGTGTATATA	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPO_chr2_206934518_206974474	206943686	A A	AGATAGAT others(19): Show AGATAGATAGATAGATAATGGATAGAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	418	0.0024	26	c.68+ others(41): Show c.68+4035_68+4036insATGGATAGATGATAGATAGATAGATA	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206970738	T T	TTTCCTCC others(19): Show TTTCCTCCTCCTCCGTTGTTGTTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0220 a0012c0013t0001g0220	1	420	0.0024	26	c.13 others(37): Show c.1302_*1303insTTCCTCCTCCTCCGTTGTTGTTGTTG	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding		1265		chr2	TogoVar
CPPED1_chr16_12654799_12808887	12766242	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	220	0.0045	26	c.289 others(45): Show c.289+14942_289+14943insATATATATATATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATACATA others(19): Show CATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	46	0.0217	26	c.-34 others(45): Show c.-34-53995_-34-53994insCATATATATATATATATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02717.hp2 HG03453.hp1 HG01261.hp2 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0002t0001g0040 a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0002t0001g0040	3	48	0.0625	26	c.-34 others(45): Show c.-34-53997_-34-53972dupATATATATATATATATATATATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96737355	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	53	0.0189	26	c.-34 others(45): Show c.-34-47495_-34-47494insATATATATATATATATATATATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96854530	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	61	0.0164	26	c.641 others(45): Show c.641+19354_641+19379dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0116 a0001c0001t0068g0116	1	75	0.0133	26	c.41 others(37): Show c.4135_*4136insTTTTTTTTTTTTTTTTTTTTTTTTTT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16	4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(19): Show ATATATATATATATATGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	161	0.0062	26	c.103 others(43): Show c.103+1490_103+1491insATATATATATATATGTTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1A_chr11_68749883_68846916	68829845	C C	CAAAAAAA others(19): Show CAAAAAAAAAACAAAAAAAAACAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01243.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0030 a0001c0001t0019 a0001c0001t0030	a0001c0001t0019g0002 a0001c0001t0030g0019 a0001c0001t0019g0002 a0001c0001t0030g0019	2	234	0.0085	26	c.-14 others(45): Show c.-14+11929_-14+11930insTTTTTGTTTTTTTTTGTTTTTTTTTT	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838572	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18977.hp1 HG02523.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0163 a0001c0001t0001g0164	2	6	0.3333	26	c.-14 others(43): Show c.-14+3202_-14+3203insTTTTTTTTTTTTTTTTTTTTTTTTTT	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPT1C_chr19_49686116_49718731	49702025	T T	TAAATATA others(19): Show TAAATATATATTTATTTATAAATTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00609.hp1 others(30): Show HG00099.hp2 HG00280.hp1 HG00609.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG02071.hp2 HG02083.hp2 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02809.hp2 HG03669.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 NA18906.hp2 NA18964.hp1 NA18967.hp1 NA18995.hp1 NA19003.hp2 NA19005.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0012t0001	a0001c0001t0001g0017 a0001c0001t0001g0121 a0001c0001t0001g0122 others(29): Show a0001c0001t0001g0017 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0176 a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0003g0051 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0012t0001g0240	33	317	0.1041	26	c.693 others(41): Show c.693+391_693+392insAAATATATATTTATTTATAAATTATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702025	T T	TAAATATA others(19): Show TAAATATATATTTATTTATAATTTATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp1 NA18522.hp1 HG02630.hp1 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0079 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0079	3	287	0.0105	26	c.693 others(41): Show c.693+391_693+392insAAATATATATTTATTTATAATTTATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CR1L_chr1_207640133_207728703	207643914	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03130.hp2 HG02809.hp2 HG03130.hp2	a0019 a0027 a0019 a0027	a0019c0021 a0027c0031 a0019c0021 a0027c0031	a0019c0021t0001 a0027c0031t0001 a0019c0021t0001 a0027c0031t0001	a0019c0021t0001g0268 a0027c0031t0001g0263 a0019c0021t0001g0268 a0027c0031t0001g0263	2	21	0.0952	26	c.-13 others(37): Show c.-1320_-1319insTATATATATATATATATATATATATA	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding		1218		chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	77	0.0130	26	c.689 others(43): Show c.6890-563_6890-562insATATATATATATATATATATATATGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(19): Show ATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0351 a0004c0004t0002g0351	1	77	0.0130	26	c.689 others(43): Show c.6890-563_6890-562insATATATATATATATATATATATGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01943.hp2 others(5): Show HG00408.hp2 HG00597.hp2 HG01943.hp2 HG02080.hp1 HG03490.hp2 NA18940.hp1 NA18965.hp2 NA18993.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0001 a0007c0007t0001 a0002c0002t0001 a0007c0007t0001	a0002c0002t0001g0122 a0002c0002t0001g0164 a0002c0002t0001g0168 others(5): Show a0002c0002t0001g0122 a0002c0002t0001g0164 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0194 a0002c0002t0001g0220 a0002c0002t0001g0222 a0007c0007t0001g0356	8	84	0.0952	26	c.689 others(43): Show c.6890-563_6890-562insATATATATATATATATATATGTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(19): Show ATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0201 a0007c0007t0001g0201	1	77	0.0130	26	c.689 others(43): Show c.6890-563_6890-562insATATATATATATATATATGTGTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207643914	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03130.hp1 HG02809.hp1 HG03130.hp1	a0006 a0016 a0006 a0016	a0006c0005 a0016c0022 a0006c0005 a0016c0022	a0006c0005t0002 a0016c0022t0002 a0006c0005t0002 a0016c0022t0002	a0006c0005t0002g0182 a0016c0022t0002g0028 a0006c0005t0002g0182 a0016c0022t0002g0028	2	23	0.0870	26	c.45 others(37): Show c.4505_*4506insTATATATATATATATATATATATATA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding		2150		chr1	TogoVar

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