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
CD5_chr11_61097489_61132852	61100052	A A	ACACACAA others(91): Show ACACACAACATGGAGATCACACACACACAACATGGAGATCACACACACAC ATCAACATGGAGATCACACACACACACATCAACATGGAGATCACATTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	149	0.0067	98	c.-25 others(109): Show c.-2509_-2508insCACACAACATGGAGATCACACACACACAACATGG AGATCACACACACACATCAACATGGAGATCACACACACACACATCAACAT GGAGATCACATTCG	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		2436		chr11	TogoVar
CDC14A_chr1_100347506_100525277	100412710	A A	ATATATAT others(91): Show ATATATATTTTATATATATATTATATATATATTATATATATATATTTTAT ATATATATAATATATATATATTATATATATATTTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG03486.hp1 HG02622.hp2 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0001 a0001c0001t0008g0285 a0001c0001t0003g0001 a0001c0001t0008g0285	3	249	0.0120	98	c.310 others(117): Show c.310-11505_310-11504insTTTATATATATATTATATATATATTA TATATATATATTTTATATATATATAATATATATATATTATATATATATTT TATATATATATATATTATATAT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH4_chr20_61247261_61945617	61531479	A A	AGGCAGGG others(91): Show AGGCAGGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAA GATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp1 NA18906.hp1 HG02622.hp2 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0012 a0001c0001 a0001c0007 a0001c0012	a0001c0001t0018 a0001c0007t0047 a0001c0012t0001 a0001c0001t0018 a0001c0007t0047 a0001c0012t0001	a0001c0001t0018g0091 a0001c0007t0047g0065 a0001c0012t0001g0008 a0001c0001t0018g0091 a0001c0007t0047g0065 a0001c0012t0001g0008	3	106	0.0283	98	c.170 others(119): Show c.170-212084_170-212083insGGCAGGGAGAATCACTTGAACCTG GGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTG GGCGACAGAGCAAGACTGCATCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61942000	G G	GCATTCCC others(91): Show GCATTCCCCAGGCCCTTCCAGCTGAGGCCATCACCGCTGGTCCCCAAAGG GCAGCTCTGGGGGCCATGTTCAGGCCTAGTCCTCTGTAGGGGAGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0014 a0002c0002t0004g0014	1	106	0.0094	98	c.50 others(109): Show c.5057_*5058insCATTCCCCAGGCCCTTCCAGCTGAGGCCATCACC GCTGGTCCCCAAAGGGCAGCTCTGGGGGCCATGTTCAGGCCTAGTCCTCT GTAGGGGAGGGGAC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		1384		chr20	TogoVar
CENPJ_chr13_24877279_24927861	24881859	G G	GATACATC others(91): Show GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACC TCTATATAGATATATAGATACCTCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02602.hp1 HG02080.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0107 a0002c0003t0003g0117 a0002c0003t0003g0107 a0002c0003t0003g0117	2	424	0.0047	98	c.13 others(109): Show c.1317_*1318insATAGATGTATCTATATATCTATATAGAGGTATCT ATATATCTATATAGAGGTATCTATATATCTATATAGATGTATCTATATAT CTATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		419		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881859	G G	GATACATC others(91): Show GATACATCTATATAGATATATAGATACCTCTATATAGATATATAGATACC TCTATATAGATATATAGATACCTCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0101 a0002c0003t0003g0101	1	423	0.0024	98	c.13 others(109): Show c.1317_*1318insATAGATGTATCTATATATCTATATAGAGGTATCT ATATATCTATATAGAGGTATCTATATATCTATATAGAGGTATCTATATAT CTATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		419		chr13	TogoVar
CFI_chr4_109735695_109806999	109756949	G G	GGAAGGAA others(91): Show GGAAGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGAAGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0300 a0002c0003t0001g0300	1	352	0.0028	98	c.904 others(113): Show c.904+813_904+814insTCTTTCTTTCTTTCTTTCTTTCTTCTTCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCTTCCTTC	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CHID1_chr11_862859_915810	888833	T T	TGCCAGTG others(91): Show TGCCAGTGCCTGCCCACTCGGCCTCGACTGGACCCCGGGCCCACACCAAC GCCAGTGCCTGCCCACTCGGCCTCGACTGGACCCCGGGCCCACACCAAC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0251 a0002c0002t0001g0251	1	384	0.0026	98	c.701 others(115): Show c.701+4593_701+4594insGTTGGTGTGGGCCCGGGGTCCAGTCGAG GCCGAGTGGGCAGGCACTGGCGTTGGTGTGGGCCCGGGGTCCAGTCGAGG CCGAGTGGGCAGGCACTGGC	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	8/12			chr11	TogoVar
CHL1_chr3_191763_414417	322653	T T	TATATATA others(91): Show TATATATATTTTATATATATATATATAAAATATATATATATATATTTTAT ATATATATATATAAAATATATATATATATATTTTATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0058 a0003c0003t0058	a0003c0003t0058g0208 a0003c0003t0058g0208	1	287	0.0035	98	c.91+ others(113): Show c.91+2794_91+2795insTTTATATATATATATATAAAATATATATAT ATATATTTTATATATATATATATAAAATATATATATATATATTTTATATA TATATATAAAATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRM2_chr7_136863652_137025213	136867851	T T	TATATATA others(91): Show TATATATATATATATATATATATATATATATATATATTCTGGATATATAT ATCCTGGACATATATATATATATATATTCTGGATATATATATCCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02622.hp2 NA18747.hp1 others(3): Show HG02055.hp2 HG02622.hp2 NA18747.hp1 NA18966.hp2 NA19012.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 a0001c0001t0051 a0002c0004t0002	a0001c0001t0002g0181 a0001c0001t0003g0239 a0001c0001t0025g0123 others(3): Show a0001c0001t0002g0181 a0001c0001t0003g0239 a0001c0001t0025g0123 a0001c0001t0051g0254 a0002c0004t0002g0165 a0002c0004t0002g0169	6	296	0.0203	98	c.-14 others(109): Show c.-1424_-1423insATATATATATATATATATATATATATATATATAT ATTCTGGATATATATATCCTGGACATATATATATATATATATTCTGGATA TATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		800		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867853	T T	TATATATA others(91): Show TATATATATATATATATATATATATATATATATATATTCTGGATATATAT ATCCTGGACATATATATATATATATATTCTGGATATATATATCCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01069.hp2 others(17): Show HG00558.hp2 HG00621.hp1 HG01069.hp2 HG01361.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02809.hp1 HG04115.hp2 NA18906.hp2 NA18941.hp1 NA18954.hp2 NA18963.hp1 NA18970.hp1 NA18982.hp2 NA18989.hp2 NA18991.hp2 NA19012.hp1 NA19063.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0007 a0001c0001 a0001c0005 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0030 a0001c0001t0042 a0001c0001t0054 a0001c0001t0055 a0001c0005t0006 a0003c0007t0001	a0001c0001t0001g0166 a0001c0001t0001g0189 a0001c0001t0002g0051 others(17): Show a0001c0001t0001g0166 a0001c0001t0001g0189 a0001c0001t0002g0051 a0001c0001t0002g0151 a0001c0001t0002g0161 a0001c0001t0002g0271 a0001c0001t0003g0250 a0001c0001t0004g0198 a0001c0001t0005g0173 a0001c0001t0006g0213 a0001c0001t0006g0229 a0001c0001t0007g0204 a0001c0001t0008g0131 a0001c0001t0017g0278 a0001c0001t0030g0129 a0001c0001t0042g0225 a0001c0001t0054g0253 a0001c0001t0055g0262 a0001c0005t0006g0280 a0003c0007t0001g0156	20	139	0.1439	98	c.-14 others(109): Show c.-1422_-1421insATATATATATATATATATATATATATATATATAT ATTCTGGATATATATATCCTGGACATATATATATATATATATTCTGGATA TATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		798		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867853	T T	TATATATA others(91): Show TATATATATATATATATATATATATATATATATATTCTGGATATATATAT CCTGGACATATATATATATATATATATTCTGGATATATATATCCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0134 a0001c0001t0059g0134	1	120	0.0083	98	c.-14 others(109): Show c.-1422_-1421insATATATATATATATATATATATATATATATATAT TCTGGATATATATATCCTGGACATATATATATATATATATATTCTGGATA TATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		798		chr7	TogoVar
CIBAR1_chr8_93695550_93736527	93697763	T T	TACATATA others(91): Show TACATATATATACATGTATATATATACATATATATACATGTATATATATA TACATATATATACATGTATATATATACATATATATACATGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02922.hp2 HG02615.hp1 HG02647.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0001t0003 a0001c0001t0015 a0001c0001t0016	a0001c0001t0003g0012 a0001c0001t0015g0086 a0001c0001t0016g0087 a0001c0001t0003g0012 a0001c0001t0015g0086 a0001c0001t0016g0087	3	171	0.0175	98	c.-28 others(109): Show c.-2885_-2884insACATATATATACATGTATATATATACATATATAT ACATGTATATATATATACATATATATACATGTATATATATACATATATAT ACATGTATATATAC	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2786		chr8	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(91): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG03927.hp1 HG02630.hp2 HG02647.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0049 a0001c0001t0015g0089 a0001c0001t0015g0049 a0001c0001t0015g0089	3	270	0.0111	98	c.21 others(107): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCT TTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLTCL1_chr22_19174473_19296719	19291846	G G	GCCCCCGC others(91): Show GCCCCCGCCTCTGCCCCGCCCCTGCCCCCGCCTCTGCCCCGCCCCTGCCC CCGCCTCTGCCCCGCCCCTGCCCCCCCGCCTCTGCCCCCCCGCCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0157 a0001c0003t0001g0157	1	307	0.0033	98	c.-20 others(107): Show c.-206_-205insGCAGGGGCGGGGGGGCAGAGGCGGGGGGGCAGGGGC GGGGCAGAGGCGGGGGCAGGGGCGGGGCAGAGGCGGGGGCAGGGGCGGGG CAGAGGCGGGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		128		chr22	TogoVar
CMTM4_chr16_66609750_66701743	66633104	T T	TATATATA others(91): Show TATATATATATAAATATATATATATAAATATATATATATAAATATATATA TATAAATATATATATATAAATATATATATATAAAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19060.hp1 HG02074.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0019 a0001c0001t0007g0018 a0001c0001t0007g0019	2	273	0.0073	98	c.363 others(115): Show c.363+3300_363+3301insTTATATATATATATTTTTATATATATAT ATTTATATATATATATTTATATATATATATTTATATATATATATTTATAT ATATATATTTATATATATAT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CMTM4_chr16_66609750_66701743	66633104	T T	TATATATA others(91): Show TATATATATATAAATATATATATATAAATATATATATATAAATATATATA TATAAATATATATATATAAATATATATATATATAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	272	0.0037	98	c.363 others(115): Show c.363+3300_363+3301insTTATATATATATATTTATATATATATAT ATTTATATATATATATTTATATATATATATTTATATATATATATTTATAT ATATATATTTATATATATAT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(91): Show GTGTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATATATAT ATATATATATATATATATATATATGTTTTTTTTTTTTTGAGACAGAGAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0147 a0001c0008t0001g0147	1	59	0.0169	98	c.432 others(117): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTGTATATAT ACATATATATATATATATATATATATATATATATATATATATATATGTTT TTTTTTTTTTGAGACAGAGATT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNIH4_chr1_224351879_224384452	224378516	A A	ACTGAGGC others(91): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01109.hp2 others(33): Show HG00733.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0039 a0001c0001t0054 a0001c0001t0055	a0001c0001t0004g0016 a0001c0001t0004g0023 a0001c0001t0004g0030 others(20): Show a0001c0001t0004g0016 a0001c0001t0004g0023 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0006g0009 a0001c0001t0006g0046 a0001c0001t0006g0048 a0001c0001t0006g0056 a0001c0001t0014g0013 a0001c0001t0014g0052 a0001c0001t0039g0062 a0001c0001t0054g0013 a0001c0001t0055g0013	36	51	0.7059	98	c.29 others(109): Show c.2996_*3093dupCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACAT CTGAATGCTGAGGC	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3094	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT3_chr19_54132762_54160681	54134145	C C	CCTCTCTC others(91): Show CCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	214	0.0047	98	c.-38 others(109): Show c.-3899_-3898insCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCTCTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3616		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54135640	G G	GTTCCTCA others(91): Show GTTCCTCAGGTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGACTGAGGCGAGCGGATCACCTGAACACCACAGACTGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	222	0.0045	98	c.-24 others(109): Show c.-2404_-2403insTTCCTCAGGTAGGCCAGGCGCAGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGACTGAGGCGAGCGGATCACCTGAACAC CACAGACTGTGAGT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		2121		chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(91): Show GACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0327 a0001c0001t0028g0327	1	75	0.0133	98	c.5+2 others(109): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(91): Show GACACACACACACACACACACACACACACACACACACACACACCCCGGAA CCTTCGCGCGCACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0297 a0001c0001t0004g0297	1	75	0.0133	98	c.5+2 others(109): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGCGCGCGAAGGTTCCGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNTN5_chr11_99015949_100363885	99369217	A A	AATATATA others(91): Show AATATATATATAATATATATAATATAACATATAATATATATTATATATAA TATATATATAATATATATAATATAACATATAATATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0055 a0002c0002t0021g0055	1	8	0.1250	98	c.-71 others(117): Show c.-71+43744_-71+43745insATATATATAATATAACATATAATATA TATTATATATAATATATATATAATATATATAATATAACATATAATATATA TTATATATAATATATATATATA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
COL23A1_chr5_178232618_178595393	178232828	T T	TCGCCCCG others(91): Show TCGCCCCGCAGGCCCCGCCCCGCAGGCCCCGCCCCGCAGGCCCCGCCCCG CAGGCCCCGCCCCGCAGGCCCCGCCCCGCAGGCCCCGCCCCGCAGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0208 a0003c0004t0005g0208	1	215	0.0047	98	c.58 others(109): Show c.5869_*5870insGGGCCTGCGGGGCGGGGCCTGCGGGGCGGGGCCT GCGGGGCGGGGCCTGCGGGGCGGGGCCTGCGGGGCGGGGCCTGCGGGGCG GGGCCTGCGGGGCG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding		4789		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178232828	T T	TCGCCGCG others(91): Show TCGCCGCGCAGGCCCCGCCGCGCAGGCCCCGCCCCGCAGGCCCCGCCCCG CAGGCCCCGCCCCGCAGGCCCCGCCCCGCAGGCCCCGCCCCGCAGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	215	0.0047	98	c.58 others(109): Show c.5869_*5870insGGGCCTGCGGGGCGGGGCCTGCGGGGCGGGGCCT GCGGGGCGGGGCCTGCGGGGCGGGGCCTGCGGGGCGGGGCCTGCGCGGCG GGGCCTGCGCGGCG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding		4789		chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255903	A A	AAGGGGGA others(91): Show AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0001 a0004c0025t0001	a0004c0025t0001g0020 a0004c0025t0001g0020	1	324	0.0031	98	c.85- others(115): Show c.85-13170_85-13169insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355452	G G	GGGGGAGG others(91): Show GGGGGAGGGCTGCACTAGCTCACTTGTGTGTGTGGGGGAGGGCTGCAGTA GCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0280 a0001c0001t0004g0280	1	370	0.0027	98	c.100 others(115): Show c.100-1998_100-1997insTTGTGTGTGTGGGGGAGGGCTGCAGTAG CTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGG GGAGGGCTGCACTAGCTCAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355680	G G	GGGGGAGG others(91): Show GGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0312 a0001c0011t0004g0312	1	323	0.0031	98	c.100 others(115): Show c.100-1790_100-1789insGGAGGGCTGCAGTAGCTCACCTGTGTGT GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGGA others(91): Show GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0104 a0001c0004t0005g0104	1	295	0.0034	98	c.100 others(115): Show c.100-1631_100-1630insTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGC TGTACAGCTCACCTGTGTGA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGGA others(91): Show GTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGGGAGGGCTGTAC TAGCTCACCTGTGTGTGGGGGTGGAGAGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0033 a0002c0107t0033	a0002c0107t0033g0174 a0002c0107t0033g0174	1	295	0.0034	98	c.100 others(115): Show c.100-1631_100-1630insTGGGGGAGGGCTGCAGTAGCTCACCTGT GTGTGGGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGGGGGTGGAGAGC TGTACAGCTCACCTGTGTGA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203362	C C	CATATATG others(91): Show CATATATGTGTGTATATATGTGTATACATATATGTGTGTATATATGTGTA TACATACATATATGTGTGTATATATGTGTATACATACATATATGTGTGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG04228.hp2 HG01975.hp2 HG04228.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0005 a0001c0001t0001 a0007c0006t0005	a0001c0001t0001g0154 a0007c0006t0005g0183 a0001c0001t0001g0154 a0007c0006t0005g0183	2	189	0.0106	98	c.88- others(115): Show c.88-34596_88-34595insGTATATATGTGTATACATATATGTGTGT ATATATGTGTATACATACATATATGTGTGTATATATGTGTATACATACAT ATATGTGTGTATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203362	C C	CATATATG others(91): Show CATATATGTGTGTATATATGTGTATACATATATGTGTGTATATATGTGTA TACATACATATATGTGTGTATATATGTGTATACATATATATATGTGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0181 a0003c0002t0003g0181	1	188	0.0053	98	c.88- others(115): Show c.88-34596_88-34595insGTATATATGTGTATACATATATGTGTGT ATATATGTGTATACATACATATATGTGTGTATATATGTGTATACATATAT ATATGTGTGTATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203483	A A	ACATATAT others(91): Show ACATATATGTGTCTATATATGTGTATACATACATATATGTGTGTATATAT GTGTATACATACATATATGTGTGTATATATGTGTATATATACATATATG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	129	0.0078	98	c.88- others(115): Show c.88-34485_88-34484insCATATATGTGTCTATATATGTGTATACA TACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATA TGTGTATATATACATATATG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203483	A A	ACATATAT others(91): Show ACATATATGTGTCTATATATGTGTATACATACATATATGTGTGTATATAT GTGTATATATACATATATGTGTGTATATATGTGTATATATACATATATG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	129	0.0078	98	c.88- others(115): Show c.88-34485_88-34484insCATATATGTGTCTATATATGTGTATACA TACATATATGTGTGTATATATGTGTATATATACATATATGTGTGTATATA TGTGTATATATACATATATG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203483	A A	ACATATAT others(91): Show ACATATATGTGTCTATATATGTGTATATATACATATATGTGTGTATATAT GTGTATATATACATATATGTGTGTATATATGTGTATATATACATATATG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18990.hp2 NA19007.hp2 NA18969.hp1 NA18990.hp2 NA19007.hp2	a0001 a0004 a0034 a0001 a0004 a0034	a0001c0001 a0004c0003 a0034c0053 a0001c0001 a0004c0003 a0034c0053	a0001c0001t0002 a0004c0003t0004 a0034c0053t0001 a0001c0001t0002 a0004c0003t0004 a0034c0053t0001	a0001c0001t0002g0287 a0004c0003t0004g0288 a0034c0053t0001g0086 a0001c0001t0002g0287 a0004c0003t0004g0288 a0034c0053t0001g0086	3	131	0.0229	98	c.88- others(115): Show c.88-34485_88-34484insCATATATGTGTCTATATATGTGTATATA TACATATATGTGTGTATATATGTGTATATATACATATATGTGTGTATATA TGTGTATATATACATATATG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203483	A A	ACATATAT others(91): Show ACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATAT GTGTATATATACATATATGTGTGTATATATGTGTATATATACATATATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03654.hp1 NA19007.hp1 HG01433.hp1 HG03654.hp1 NA19007.hp1	a0003 a0006 a0008 a0003 a0006 a0008	a0003c0002 a0006c0010 a0008c0009 a0003c0002 a0006c0010 a0008c0009	a0003c0002t0003 a0006c0010t0003 a0008c0009t0001 a0003c0002t0003 a0006c0010t0003 a0008c0009t0001	a0003c0002t0003g0197 a0006c0010t0003g0316 a0008c0009t0001g0029 a0003c0002t0003g0197 a0006c0010t0003g0316 a0008c0009t0001g0029	3	131	0.0229	98	c.88- others(115): Show c.88-34485_88-34484insCATATATGTGTGTATATATGTGTATACA TACATATATGTGTGTATATATGTGTATATATACATATATGTGTGTATATA TGTGTATATATACATATATG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203483	A A	ACATATAT others(91): Show ACATATATGTGTGTATATATGTGTATATATACATATATGTGTGTATATAT GTGTATATATACATATATGTGTGTATATATGTGTATATATACATATATG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03834.hp2 HG06807.hp1 others(7): Show HG02071.hp1 HG03834.hp2 HG06807.hp1 NA18950.hp2 NA18963.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18998.hp1 NA20752.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0012	a0001c0001 a0003c0002 a0004c0003 others(2): Show a0001c0001 a0003c0002 a0004c0003 a0009c0008 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0003c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0001 a0003c0002t0003 a0004c0003t0004 a0009c0008t0001 a0012c0017t0001	a0001c0001t0001g0018 a0001c0001t0001g0274 a0001c0001t0002g0165 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0274 a0001c0001t0002g0165 a0001c0001t0002g0250 a0001c0001t0002g0301 a0003c0002t0001g0229 a0003c0002t0003g0142 a0004c0003t0004g0317 a0009c0008t0001g0110 a0012c0017t0001g0166	10	138	0.0725	98	c.88- others(115): Show c.88-34485_88-34484insCATATATGTGTGTATATATGTGTATATA TACATATATGTGTGTATATATGTGTATATATACATATATGTGTGTATATA TGTGTATATATACATATATG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045808	A A	ATACACAT others(91): Show ATACACATATATATGTATATATATTTAGATAGTATATATAGTATATATAT GTATATGTATATATGTATATATTTATATATATGTATATATGTATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0197 a0006c0005t0004g0197	1	266	0.0038	98	c.328 others(117): Show c.3289+1666_3289+1667insAATATATACATATATACATATATATA AATATATACATATATACATATACATATATATACTATATATACTATCTAAA TATATATACATATATATGTGTA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COLEC11_chr2_3590112_3649644	3590749	A A	AGGCGGGG others(91): Show AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCGGGACGGGGCGGCTGGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00733.hp1 others(18): Show HG00323.hp1 HG00621.hp2 HG00733.hp1 HG02040.hp1 HG02074.hp1 HG02145.hp2 HG03669.hp2 HG04184.hp1 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18953.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0015 a0001c0001t0001g0283 a0001c0001t0001g0284 others(18): Show a0001c0001t0001g0015 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0002c0004t0001g0285	21	234	0.0897	98	c.-44 others(109): Show c.-4446_-4445insGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCGGGAC GGGGCGGCTGGCCG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4362		chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158497	C C	CCCCTCTC others(91): Show CCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCT CCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	184	0.0054	98	c.510 others(117): Show c.510+24324_510+24325insTCCTCTCTCTCTCCCTCTCCTCTCTC CCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCT CTCCCTCTCCTCTCTCTCCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPE_chr19_18894514_18924387	18902768	G G	GAAAGGAA others(91): Show GAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01071.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	3	249	0.0120	98	c.735 others(113): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT CCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTT CTTTCCTTTCTTTCCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAGGAA others(91): Show GAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	146	0.0068	98	c.735 others(113): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAA others(91): Show GAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	146	0.0068	98	c.735 others(113): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(91): Show GAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	146	0.0068	98	c.735 others(113): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CORO7_chr16_4349542_4421596	4359894	T T	TATCTCCC others(91): Show TATCTCCCCCCAACCCCTCACCCACCCCTCTATCCATCTCCCCACTACCC CCAAAACATCCCTCCATCTCCCCTACCCCCCTCACCCTCCCCTGCATCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp2 HG03486.hp2 HG02717.hp1 HG02896.hp2 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0002 a0003c0003t0001 a0001c0002t0002 a0003c0003t0001	a0001c0002t0002g0050 a0001c0002t0002g0123 a0003c0003t0001g0274 a0001c0002t0002g0050 a0001c0002t0002g0123 a0003c0003t0001g0274	3	296	0.0101	98	c.210 others(115): Show c.2108+286_2109-274dupGGATGCAGGGGAGGGTGAGGGGGGTAGG GGAGATGGAGGGATGTTTTGGGGGTAGTGGGGAGATGGATAGAGGGGTGG GTGAGGGGTTGGGGGGAGAT	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	21/27			chr16	TogoVar
COX7B_chrX_77894468_77912376	77910191	T T	TGATGCAC others(91): Show TGATGCACGTGAATTTCATGCTGGGCGAAGATGAACTATGTGGAAGATGA CTTATAAGGAGCTTTTATGTTACATCTTGGCAGTTAACACAGTCTAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	292	0.0034	98	c.49 others(109): Show c.4930_*4931insGATGCACGTGAATTTCATGCTGGGCGAAGATGAA CTATGTGGAAGATGACTTATAAGGAGCTTTTATGTTACATCTTGGCAGTT AACACAGTCTAACA	COX7B	ENSG00000131174.7	transcript	ENST00000650309.2	protein_coding		2816		chrX	TogoVar
CPAMD8_chr19_16887951_17031810	16967863	T T	TTGTATAT others(91): Show TTGTATATATGTGCATATATACACACACGTGTGTATATATGTGCATATAT ACACACACATGTGTGTGTATATATGTGCATATATACACACACATGTGTG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0118 a0118	a0118c0149 a0118c0149	a0118c0149t0001 a0118c0149t0001	a0118c0149t0001g0106 a0118c0149t0001g0106	1	117	0.0085	98	c.221 others(117): Show c.2213+3027_2213+3028insCACACATGTGTGTGTATATATGCACA TATATACACACACATGTGTGTGTATATATGCACATATATACACACGTGTG TGTATATATGCACATATATACA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPLX1_chr4_779957_831129	825979	G G	GCCGGGGC others(91): Show GCCGGGGCCGGCGGGAGAAGCGGGGAGAAGCGGCGGCCGGGGAGGAGACG CCGGGGCCGGCGGGAGAAGCGGGGAGAAGCCGGGGCCGGGGAGGAGAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	16	0.0625	98	c.-80 others(111): Show c.-80+66_-80+67insTTTCTCCTCCCCGGCCCCGGCTTCTCCCCGCT TCTCCCGCCGGCCCCGGCGTCTCCTCCCCGGCCGCCGCTTCTCCCCGCTT CTCCCGCCGGCCCCGG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	1/3			chr4	TogoVar
CPLX1_chr4_779957_831129	825979	G G	GCCGGGGC others(91): Show GCCGGGGCCGGCGGGAGAAGCGGGGAGAAGCGGGGGCCGGGGAGGAGACG CCGGGGCCGGCGGGAGAAGCGGGGAGAAGCCGGGGCCGGGGAGGAGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(96): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp1 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19080.hp1 NA19083.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027	a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0061 others(89): Show a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0082 a0001c0001t0004g0007 a0001c0001t0004g0080 a0001c0001t0004g0110 a0001c0001t0004g0124 a0001c0001t0005g0002 a0001c0001t0005g0004 a0001c0001t0005g0025 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0049 a0001c0001t0005g0057 a0001c0001t0005g0064 a0001c0001t0005g0070 a0001c0001t0005g0083 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0122 a0001c0001t0005g0125 a0001c0001t0006g0008 a0001c0001t0006g0043 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0001t0006g0075 a0001c0001t0006g0078 a0001c0001t0006g0090 a0001c0001t0006g0097 a0001c0001t0006g0102 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0007g0081 a0001c0001t0007g0106 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0123 a0001c0001t0008g0058 a0001c0001t0010g0087 a0001c0001t0010g0105 a0001c0001t0015g0047 a0001c0001t0015g0048 a0001c0001t0016g0100 a0001c0001t0025g0065 a0001c0001t0027g0042	99	114	0.8684	98	c.-80 others(111): Show c.-80+66_-80+67insTTTCTCCTCCCCGGCCCCGGCTTCTCCCCGCT TCTCCCGCCGGCCCCGGCGTCTCCTCCCCGGCCCCCGCTTCTCCCCGCTT CTCCCGCCGGCCCCGG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	1/3			chr4	TogoVar

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