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
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(23): Show TATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	198	0.0051	30	c.-12 others(51): Show c.-129+30483_-129+30484insTATATATATATATATATATATATA GAGAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(23): Show ATATATATTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	142	0.0070	30	c.-3- others(47): Show c.-3-16842_-3-16841insATATATTATATATATATATATATATATA TT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(23): Show ATATTATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	142	0.0070	30	c.-3- others(47): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATATT TT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	129	0.0078	30	c.-11 others(41): Show c.-1118_-1117insAAAATATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0085 a0002c0001t0001g0085	1	129	0.0078	30	c.-11 others(41): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	241	0.0041	30	c.148 others(47): Show c.148+2201_148+2202insAAAAAAAAAATATATATATATATATATA TA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(23): Show GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	144	0.0069	30	c.292 others(45): Show c.292+378_292+379insGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3605441	C C	CGTGGGTG others(23): Show CGTGGGTGCCGAGGAGGGGGAGGGGAGTCAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	144	0.0069	30	c.130 others(45): Show c.130+989_130+990insGAGGGGAGTCATGTGGGTGCCGAGGAGGGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01081.hp1 HG01192.hp2 others(29): Show HG00408.hp1 HG01081.hp1 HG01192.hp2 HG01516.hp1 HG02004.hp1 HG02273.hp1 HG02300.hp2 HG02572.hp2 HG02895.hp2 HG02897.hp2 HG03239.hp2 HG04204.hp1 NA18522.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18970.hp2 NA18975.hp2 NA18979.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18997.hp2 NA19002.hp2 NA19054.hp2 NA19066.hp2 NA19070.hp1 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0002c0007 a0002c0012 a0003c0002	a0001c0003t0003 a0001c0003t0007 a0001c0003t0011 others(19): Show a0001c0003t0003 a0001c0003t0007 a0001c0003t0011 a0001c0003t0026 a0001c0003t0069 a0001c0003t0084 a0001c0003t0085 a0001c0004t0016 a0001c0004t0110 a0001c0005t0072 a0002c0001t0039 a0002c0001t0121 a0002c0001t0147 a0002c0001t0171 a0002c0001t0182 a0002c0007t0026 a0002c0012t0115 a0002c0012t0116 a0003c0002t0002 a0003c0002t0021 a0003c0002t0043 a0003c0002t0142	a0001c0003t0003g0068 a0001c0003t0003g0074 a0001c0003t0003g0098 others(29): Show a0001c0003t0003g0068 a0001c0003t0003g0074 a0001c0003t0003g0098 a0001c0003t0003g0275 a0001c0003t0007g0019 a0001c0003t0011g0147 a0001c0003t0026g0092 a0001c0003t0069g0292 a0001c0003t0084g0159 a0001c0003t0085g0154 a0001c0004t0016g0093 a0001c0004t0016g0267 a0001c0004t0016g0314 a0001c0004t0110g0208 a0001c0005t0072g0202 a0002c0001t0039g0265 a0002c0001t0039g0282 a0002c0001t0121g0070 a0002c0001t0147g0309 a0002c0001t0171g0139 a0002c0001t0182g0166 a0002c0007t0026g0027 a0002c0012t0115g0326 a0002c0012t0116g0174 a0003c0002t0002g0076 a0003c0002t0002g0086 a0003c0002t0002g0222 a0003c0002t0002g0290 a0003c0002t0021g0225 a0003c0002t0043g0033 a0003c0002t0043g0034 a0003c0002t0142g0100	32	209	0.1531	30	c.78 others(41): Show c.7837_*7838insATATATATATATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COMMD10_chr5_116080025_116298287	116157799	G G	GTGTATAT others(23): Show GTGTATATAAGTTGTGATTGTTCTACATCAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	348	0.0029	30	c.510 others(49): Show c.510+23622_510+23651dupTGTATATAAGTTGTGATTGTTCTACA TCAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158482	T T	TCCCTCTC others(23): Show TCCCTCTCCCCTCTCCCCCTCTCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	334	0.0030	30	c.510 others(49): Show c.510+24312_510+24313insCCTCTCCCCCTCTCCCCTCTCCCCCT CTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158485	C C	CTCTCCTC others(23): Show CTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG01884.hp2 others(4): Show HG00738.hp2 HG01255.hp2 HG01884.hp2 NA18986.hp2 NA19009.hp1 NA19086.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0290 a0001c0001t0001g0294 others(4): Show a0001c0001t0001g0191 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0313	7	283	0.0247	30	c.510 others(49): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01943.hp1 HG02970.hp1 others(3): Show HG00621.hp1 HG01943.hp1 HG02970.hp1 HG04204.hp2 NA18964.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0235 others(3): Show a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0005t0001g0140	6	160	0.0375	30	c.510 others(49): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00673.hp1 others(18): Show HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG02015.hp1 HG02129.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG03239.hp1 HG03654.hp2 HG03669.hp1 HG04228.hp2 NA18943.hp1 NA18999.hp2 NA19057.hp1 NA19066.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 others(18): Show a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0252 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0103 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0139 a0001c0002t0001g0166	21	219	0.0959	30	c.510 others(49): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02809.hp1 others(7): Show HG02109.hp1 HG02622.hp2 HG02809.hp1 NA18944.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA19030.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0101 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0165 a0001c0001t0001g0221 a0001c0001t0001g0257 a0001c0003t0001g0272	10	33	0.3030	30	c.462 others(49): Show c.462+62887_462+62916dupATATATATATATATATATATATATAT ATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(18): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00639.hp1 HG02056.hp1 HG02129.hp1 HG02723.hp1 HG02735.hp2 HG03195.hp2 HG03471.hp2 HG03492.hp2 HG04199.hp2 HG04204.hp1 NA18952.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA19012.hp2 NA19054.hp1 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0061 others(18): Show a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0285 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0005t0001g0147	21	125	0.1680	30	c.463 others(49): Show c.463-40010_463-40009insATATATATATATATATATATATATAT ATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD7_chr20_32697699_32748467	32723125	C C	CCTCTCCC others(23): Show CCTCTCCCTCTCCCTCCCTCTCCGTCTCCGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0281 a0001c0001t0009g0281	1	398	0.0025	30	c.241 others(47): Show c.241+4767_241+4768insACGGAGACGGAGAGGGAGGGAGAGGGAG AG	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8			chr20	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02572.hp1 HG03942.hp1 others(5): Show HG00408.hp2 HG02572.hp1 HG03942.hp1 NA18612.hp1 NA18950.hp1 NA18961.hp1 NA18986.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0046 others(4): Show a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0179 a0001c0001t0003g0184 a0001c0001t0005g0114	8	47	0.1702	30	c.44 others(41): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(23): Show CTTTTTCTTTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03669.hp2 HG02615.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0170 a0001c0001t0001g0061 a0001c0001t0001g0170	2	218	0.0092	30	c.976 others(45): Show c.976-215_976-214insAAGAAAGAAAGAAAGAAAGAAAAAGAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03130.hp1 NA19005.hp1 others(2): Show HG02809.hp1 HG03130.hp1 NA19005.hp1 NA19056.hp1 NA19080.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0005 a0001c0001 a0001c0002 a0007c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0007c0005t0001	a0001c0001t0001g0067 a0001c0001t0001g0126 a0001c0001t0004g0279 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0126 a0001c0001t0004g0279 a0001c0002t0002g0011 a0007c0005t0001g0031	5	157	0.0318	30	c.213 others(49): Show c.2134-4199_2134-4198insATATATATATATATATATATATATAT ATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	9	0.1111	30	c.213 others(49): Show c.2134-8557_2134-8528dupTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176028696	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	14	0.0714	30	c.161 others(49): Show c.1613-1038_1613-1009dupATATATATATATATATATATATATAT ATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	14/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176209307	C C	CCCCCCAC others(23): Show CCCCCCACCCCCTTTTGTTTAAGAGATGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02735.hp1 HG02895.hp1 others(5): Show HG00099.hp1 HG02735.hp1 HG02895.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 NA18954.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002	a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 others(5): Show a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0002t0002g0028	8	265	0.0302	30	c.-23 others(41): Show c.-2330_-2329insCCCCATCTCTTAAACAAAAGGGGGTGGGGG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding		2022		chr1	TogoVar
COPG2_chr7_130501238_130673748	130513341	A A	ATATATAT others(23): Show ATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	30	c.215 others(49): Show c.2150-4683_2150-4682insCACACACATATATATATATATATATA TATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPZ2_chr17_48021167_48042797	48026119	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA20300.hp2 NA18522.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0099 a0002c0002t0002g0011 a0001c0001t0001g0099 a0002c0002t0002g0011	2	342	0.0058	30	c.30 others(39): Show c.308_*309insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		47		chr17	TogoVar
COQ10B_chr2_197448552_197480310	197473475	C C	CACGTATA others(23): Show CACGTATATATATGTATATACGTATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA19086.hp2 NA18985.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0158 a0001c0002t0002g0160	2	387	0.0052	30	c.550 others(45): Show c.550-269_550-240dupGTATATACGTATATATATACGTATATATAT	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ5_chr12_120498279_120534158	120499038	G G	GGAACAAG others(23): Show GGAACAAGTGTGAAACACTAGATCGCGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	386	0.0026	30	c.47 others(41): Show c.4745_*4746insAACACGCGATCTAGTGTTTCACACTTGTTC	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding		4240		chr12	TogoVar
COQ8A_chr1_226935294_226992544	226973984	C C	CTCACCCC others(23): Show CTCACCCCTGCCCTTAAGCACTTTTCACCCA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	410	0.0024	30	c.656 others(47): Show c.656-3464_656-3435dupTCACCCCTGCCCTTAAGCACTTTTCACC CA	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 NA19240.hp1 HG02258.hp1 HG02615.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0269 a0001c0002t0001g0293 a0001c0004t0001g0253 a0001c0002t0001g0269 a0001c0002t0001g0293 a0001c0004t0001g0253	3	72	0.0417	30	c.114 others(49): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(23): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02622.hp2 HG02976.hp1 others(1): Show HG00735.hp1 HG02622.hp2 HG02976.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0025 a0001c0002 a0001c0004 a0002c0025	a0001c0002t0001 a0001c0004t0001 a0002c0025t0001 a0001c0002t0001 a0001c0004t0001 a0002c0025t0001	a0001c0002t0001g0233 a0001c0004t0001g0250 a0001c0004t0001g0257 others(1): Show a0001c0002t0001g0233 a0001c0004t0001g0250 a0001c0004t0001g0257 a0002c0025t0001g0051	4	73	0.0548	30	c.114 others(49): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT ATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0246 a0001c0004t0001g0246	1	70	0.0143	30	c.114 others(49): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTAT ATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697874	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03669.hp2 HG01192.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0265 a0001c0004t0001g0266 a0001c0004t0001g0265 a0001c0004t0001g0266	2	389	0.0051	30	c.114 others(49): Show c.1144-1821_1144-1820insACTCTCTCTCTCTCTCTCTCTCTCTC TCTC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0335 a0001c0002t0001g0335	1	220	0.0045	30	c.114 others(49): Show c.1144-1822_1144-1821insGTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGGGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	220	0.0045	30	c.114 others(49): Show c.1144-1822_1144-1821insGTCTCTCTCCCTCTCTCTCTCTCTCT CTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CORO1C_chr12_108640109_108736518	108695851	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0321 a0001c0001t0021g0321	1	201	0.0050	30	c.195 others(47): Show c.195+5272_195+5273insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	2/10			chr12	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0108 a0001c0001t0020g0108	1	113	0.0088	30	c.201 others(47): Show c.201+3130_201+3131insTATATATATATATATATATATATATATA CA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO7_chr16_4349542_4421596	4378328	C C	CGGCCACA others(23): Show CGGCCACAGTGGTGGCCAGGCTGGCCAGGCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp2 HG01074.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0147 a0001c0002t0001g0148	2	296	0.0068	30	c.785 others(47): Show c.785+9628_785+9657dupAGCCTGGCCAGCCTGGCCACCACTGTGG CC	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	9/27			chr16	TogoVar
COX14_chr12_50107236_50125453	50112907	C C	CGTTATGT others(23): Show CGTTATGTTATGTTATGTTATGTTATGTTAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	17	0.0588	30	c.-9+ others(43): Show c.-9+617_-9+646dupGTTATGTTATGTTATGTTATGTTATGTTAT	COX14	ENSG00000178449.9	transcript	ENST00000550487.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
COX6B2_chr19_55344704_55359719	55359429	C C	CGGGATGG others(23): Show CGGGATGGAGCAGGTATGGCTGGGGCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01891.hp2 HG02572.hp1 others(5): Show HG00738.hp2 HG01891.hp2 HG02572.hp1 HG02886.hp1 HG02896.hp2 HG03540.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0005g0011 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0005g0011 a0001c0001t0005g0053	8	388	0.0206	30	c.-48 others(41): Show c.-4828_-4799dupAGAAGGCCCCAGCCATACCTGCTCCATCCC	COX6B2	ENSG00000160471.13	transcript	ENST00000326529.9	protein_coding		4711		chr19	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18945.hp1 HG02135.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	177	0.0113	30	c.-30 others(41): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7A2_chr6_75232787_75248801	75248081	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	369	0.0027	30	c.-43 others(41): Show c.-4348_-4347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COX7A2	ENSG00000112695.13	transcript	ENST00000684430.2	protein_coding		4281		chr6	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	73	0.0137	30	c.-49 others(49): Show c.-49-19486_-49-19485insTACATATATATATATATATATATATA TATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20905.hp2 HG02622.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0074 a0002c0002t0001g0032 a0002c0002t0001g0074	2	66	0.0303	30	c.193 others(49): Show c.193-42114_193-42113insATATATATATATATATATATATATAT ATAT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16926304	C C	CTTTATTT others(23): Show CTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19085.hp2 HG01891.hp2 NA19085.hp2	a0064 a0120 a0064 a0120	a0064c0068 a0120c0148 a0064c0068 a0120c0148	a0064c0068t0002 a0120c0148t0002 a0064c0068t0002 a0120c0148t0002	a0064c0068t0002g0159 a0120c0148t0002g0235 a0064c0068t0002g0159 a0120c0148t0002g0235	2	233	0.0086	30	c.337 others(47): Show c.3371-933_3371-932insATAAAATAAAATAAAATAAAATAAAATA AA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	25/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16967863	T T	TTGTATAT others(23): Show TTGTATATATGTGCATATATACACACACGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00741.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(50): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0026 a0028 a0033 a0034 a0035 a0039 a0040 a0043 a0044 a0047 a0048 a0049 a0050 a0051 a0053 a0066 a0067 a0070 a0071 a0074 a0083 a0086 a0088 a0091 a0096 a0097 a0098 a0103 a0104 a0109 a0113 a0114 a0119 a0120 a0124	a0001c0001 a0001c0007 a0001c0013 others(71): Show a0001c0001 a0001c0007 a0001c0013 a0001c0033 a0001c0102 a0002c0017 a0002c0019 a0002c0056 a0002c0058 a0002c0059 a0002c0062 a0002c0120 a0002c0176 a0003c0002 a0003c0045 a0003c0151 a0004c0014 a0004c0100 a0005c0015 a0005c0132 a0006c0003 a0007c0016 a0011c0012 a0011c0090 a0011c0091 a0013c0078 a0014c0027 a0015c0008 a0016c0155 a0017c0116 a0018c0037 a0018c0143 a0019c0146 a0020c0075 a0021c0035 a0023c0106 a0026c0125 a0028c0092 a0033c0070 a0033c0071 a0034c0026 a0035c0021 a0039c0041 a0040c0174 a0043c0166 a0043c0167 a0044c0022 a0047c0099 a0047c0109 a0048c0057 a0049c0087 a0050c0158 a0051c0085 a0053c0064 a0066c0133 a0067c0168 a0070c0061 a0071c0171 a0074c0178 a0083c0145 a0086c0079 a0088c0172 a0091c0098 a0096c0177 a0097c0163 a0098c0136 a0103c0110 a0104c0060 a0109c0124 a0113c0134 a0114c0152 a0119c0048 a0120c0148 a0124c0055	a0001c0001t0002 a0001c0007t0002 a0001c0013t0001 others(71): Show a0001c0001t0002 a0001c0007t0002 a0001c0013t0001 a0001c0033t0002 a0001c0102t0002 a0002c0017t0001 a0002c0019t0001 a0002c0056t0001 a0002c0058t0002 a0002c0059t0001 a0002c0062t0002 a0002c0120t0001 a0002c0176t0001 a0003c0002t0002 a0003c0045t0002 a0003c0151t0001 a0004c0014t0002 a0004c0100t0002 a0005c0015t0002 a0005c0132t0002 a0006c0003t0002 a0007c0016t0001 a0011c0012t0002 a0011c0090t0001 a0011c0091t0001 a0013c0078t0002 a0014c0027t0001 a0015c0008t0001 a0016c0155t0002 a0017c0116t0001 a0018c0037t0002 a0018c0143t0001 a0019c0146t0001 a0020c0075t0001 a0021c0035t0001 a0023c0106t0003 a0026c0125t0002 a0028c0092t0001 a0033c0070t0002 a0033c0071t0001 a0034c0026t0001 a0035c0021t0002 a0039c0041t0001 a0040c0174t0001 a0043c0166t0002 a0043c0167t0001 a0044c0022t0001 a0047c0099t0002 a0047c0109t0002 a0048c0057t0002 a0049c0087t0001 a0050c0158t0001 a0051c0085t0001 a0053c0064t0002 a0066c0133t0002 a0067c0168t0001 a0070c0061t0001 a0071c0171t0002 a0074c0178t0001 a0083c0145t0001 a0086c0079t0001 a0088c0172t0001 a0091c0098t0001 a0096c0177t0001 a0097c0163t0002 a0098c0136t0002 a0103c0110t0001 a0104c0060t0001 a0109c0124t0002 a0113c0134t0001 a0114c0152t0002 a0119c0048t0001 a0120c0148t0002 a0124c0055t0001	a0001c0001t0002g0048 a0001c0001t0002g0158 a0001c0001t0002g0185 others(88): Show a0001c0001t0002g0048 a0001c0001t0002g0158 a0001c0001t0002g0185 a0001c0001t0002g0266 a0001c0007t0002g0036 a0001c0007t0002g0053 a0001c0007t0002g0221 a0001c0007t0002g0245 a0001c0013t0001g0090 a0001c0033t0002g0002 a0001c0033t0002g0028 a0001c0102t0002g0079 a0002c0017t0001g0113 a0002c0017t0001g0162 a0002c0019t0001g0008 a0002c0019t0001g0139 a0002c0056t0001g0081 a0002c0058t0002g0149 a0002c0059t0001g0044 a0002c0062t0002g0176 a0002c0120t0001g0074 a0002c0176t0001g0014 a0003c0002t0002g0039 a0003c0002t0002g0105 a0003c0045t0002g0052 a0003c0045t0002g0220 a0003c0151t0001g0148 a0004c0014t0002g0038 a0004c0014t0002g0222 a0004c0014t0002g0223 a0004c0100t0002g0054 a0005c0015t0002g0132 a0005c0132t0002g0086 a0006c0003t0002g0125 a0006c0003t0002g0167 a0006c0003t0002g0236 a0007c0016t0001g0007 a0011c0012t0002g0209 a0011c0090t0001g0254 a0011c0091t0001g0179 a0013c0078t0002g0171 a0014c0027t0001g0180 a0015c0008t0001g0174 a0016c0155t0002g0217 a0017c0116t0001g0010 a0018c0037t0002g0190 a0018c0143t0001g0012 a0019c0146t0001g0198 a0020c0075t0001g0137 a0021c0035t0001g0172 a0023c0106t0003g0155 a0026c0125t0002g0034 a0028c0092t0001g0260 a0033c0070t0002g0091 a0033c0071t0001g0070 a0034c0026t0001g0233 a0034c0026t0001g0234 a0035c0021t0002g0269 a0039c0041t0001g0219 a0039c0041t0001g0252 a0040c0174t0001g0160 a0043c0166t0002g0059 a0043c0167t0001g0272 a0044c0022t0001g0232 a0047c0099t0002g0224 a0047c0109t0002g0165 a0048c0057t0002g0134 a0049c0087t0001g0225 a0050c0158t0001g0228 a0051c0085t0001g0047 a0053c0064t0002g0147 a0066c0133t0002g0241 a0067c0168t0001g0271 a0070c0061t0001g0168 a0071c0171t0002g0163 a0074c0178t0001g0103 a0083c0145t0001g0093 a0086c0079t0001g0080 a0088c0172t0001g0006 a0091c0098t0001g0065 a0096c0177t0001g0072 a0097c0163t0002g0107 a0098c0136t0002g0169 a0103c0110t0001g0055 a0104c0060t0001g0262 a0109c0124t0002g0050 a0113c0134t0001g0109 a0114c0152t0002g0030 a0119c0048t0001g0011 a0120c0148t0002g0235 a0124c0055t0001g0121	91	207	0.4396	30	c.221 others(49): Show c.2213+3027_2213+3028insCACGTGTGTGTATATATGCACATATA TACA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16967893	G G	GTGTGTAT others(23): Show GTGTGTATATATGCGCATATATACACACACA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19067.hp1 NA19065.hp2 NA19067.hp1	a0029 a0029	a0029c0034 a0029c0034	a0029c0034t0002 a0029c0034t0002	a0029c0034t0002g0032 a0029c0034t0002g0033 a0029c0034t0002g0032 a0029c0034t0002g0033	2	226	0.0088	30	c.221 others(49): Show c.2213+2997_2213+2998insTGTGTGTGTATATATGCGCATATATA CACA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16967893	G G	GTGTGTAT others(23): Show GTGTGTATATATGTGCATATATACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01168.hp2 others(35): Show HG01081.hp1 HG01099.hp2 HG01168.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp2 HG02895.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp2 NA19010.hp2 NA19043.hp1 NA19065.hp1 NA19070.hp1 NA19240.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0023 a0026 a0036 a0037 a0038 a0045 a0062 a0068 a0075 a0087 a0090 a0095 a0122	a0001c0001 a0002c0017 a0003c0002 others(28): Show a0001c0001 a0002c0017 a0003c0002 a0005c0006 a0005c0015 a0006c0003 a0006c0121 a0008c0009 a0008c0150 a0009c0004 a0011c0012 a0011c0084 a0012c0028 a0012c0083 a0013c0024 a0013c0049 a0014c0105 a0015c0008 a0023c0032 a0026c0067 a0036c0036 a0037c0107 a0038c0025 a0045c0023 a0062c0186 a0068c0153 a0075c0080 a0087c0184 a0090c0072 a0095c0162 a0122c0173	a0001c0001t0002 a0002c0017t0001 a0003c0002t0002 others(28): Show a0001c0001t0002 a0002c0017t0001 a0003c0002t0002 a0005c0006t0001 a0005c0015t0002 a0006c0003t0002 a0006c0121t0002 a0008c0009t0001 a0008c0150t0001 a0009c0004t0001 a0011c0012t0002 a0011c0084t0001 a0012c0028t0002 a0012c0083t0001 a0013c0024t0002 a0013c0049t0002 a0014c0105t0001 a0015c0008t0001 a0023c0032t0001 a0026c0067t0001 a0036c0036t0001 a0037c0107t0001 a0038c0025t0002 a0045c0023t0002 a0062c0186t0001 a0068c0153t0001 a0075c0080t0001 a0087c0184t0001 a0090c0072t0001 a0095c0162t0001 a0122c0173t0001	a0001c0001t0002g0275 a0002c0017t0001g0112 a0003c0002t0002g0196 others(35): Show a0001c0001t0002g0275 a0002c0017t0001g0112 a0003c0002t0002g0196 a0003c0002t0002g0201 a0005c0006t0001g0087 a0005c0006t0001g0131 a0005c0006t0001g0184 a0005c0006t0001g0205 a0005c0006t0001g0207 a0005c0015t0002g0110 a0006c0003t0002g0166 a0006c0121t0002g0267 a0008c0009t0001g0218 a0008c0150t0001g0273 a0009c0004t0001g0069 a0011c0012t0002g0212 a0011c0084t0001g0181 a0012c0028t0002g0177 a0012c0083t0001g0133 a0013c0024t0002g0178 a0013c0024t0002g0276 a0013c0049t0002g0170 a0014c0105t0001g0140 a0015c0008t0001g0005 a0023c0032t0001g0229 a0023c0032t0001g0230 a0026c0067t0001g0004 a0036c0036t0001g0206 a0037c0107t0001g0183 a0038c0025t0002g0264 a0045c0023t0002g0157 a0062c0186t0001g0049 a0068c0153t0001g0237 a0075c0080t0001g0082 a0087c0184t0001g0057 a0090c0072t0001g0094 a0095c0162t0001g0017 a0122c0173t0001g0164	38	262	0.1450	30	c.221 others(49): Show c.2213+2997_2213+2998insTGTGTGTGTATATATGCACATATATA CACA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	17013512	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01168.hp1 HG01169.hp1 others(26): Show HG00609.hp2 HG01168.hp1 HG01169.hp1 HG01978.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02683.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03486.hp1 HG03688.hp1 HG04199.hp1 HG04204.hp2 NA18971.hp2 NA18985.hp1 NA19002.hp2 NA19043.hp2 NA19066.hp1 NA19067.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0007 a0009 a0012 a0019 a0020 a0031 a0034 a0040 a0051 a0072 a0074 a0080 a0089 a0091 a0097	a0001c0001 a0002c0019 a0002c0058 others(20): Show a0001c0001 a0002c0019 a0002c0058 a0003c0002 a0004c0005 a0004c0014 a0004c0100 a0007c0016 a0007c0053 a0009c0004 a0012c0028 a0019c0039 a0020c0075 a0031c0040 a0034c0026 a0040c0175 a0051c0085 a0072c0179 a0074c0178 a0080c0161 a0089c0082 a0091c0098 a0097c0163	a0001c0001t0002 a0002c0019t0001 a0002c0058t0002 others(20): Show a0001c0001t0002 a0002c0019t0001 a0002c0058t0002 a0003c0002t0002 a0004c0005t0002 a0004c0014t0002 a0004c0100t0002 a0007c0016t0001 a0007c0053t0001 a0009c0004t0001 a0012c0028t0002 a0019c0039t0001 a0020c0075t0001 a0031c0040t0001 a0034c0026t0001 a0040c0175t0001 a0051c0085t0001 a0072c0179t0001 a0074c0178t0001 a0080c0161t0002 a0089c0082t0001 a0091c0098t0001 a0097c0163t0002	a0001c0001t0002g0185 a0002c0019t0001g0139 a0002c0058t0002g0149 others(26): Show a0001c0001t0002g0185 a0002c0019t0001g0139 a0002c0058t0002g0149 a0003c0002t0002g0092 a0003c0002t0002g0105 a0003c0002t0002g0201 a0004c0005t0002g0042 a0004c0005t0002g0188 a0004c0014t0002g0038 a0004c0100t0002g0054 a0007c0016t0001g0007 a0007c0053t0001g0156 a0009c0004t0001g0069 a0009c0004t0001g0200 a0012c0028t0002g0177 a0019c0039t0001g0227 a0019c0039t0001g0238 a0020c0075t0001g0137 a0031c0040t0001g0043 a0034c0026t0001g0233 a0034c0026t0001g0234 a0040c0175t0001g0075 a0051c0085t0001g0047 a0072c0179t0001g0102 a0074c0178t0001g0103 a0080c0161t0002g0187 a0089c0082t0001g0068 a0091c0098t0001g0065 a0097c0163t0002g0107	29	53	0.5472	30	c.268 others(47): Show c.268-1785_268-1756dupATTTTATTTTATTTTATTTTATTTTATT TT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	3/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	196	0.0051	30	c.981 others(47): Show c.981+1172_981+1173insGTGTGTGTGTGTATATATATATATATAT AT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01993.hp2 others(15): Show HG00609.hp2 HG00738.hp1 HG01993.hp2 HG02145.hp2 HG02523.hp2 HG02922.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03834.hp2 NA18951.hp1 NA18955.hp1 NA18968.hp1 NA18970.hp1 NA18985.hp1 NA19006.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0159 a0002c0002t0001g0110 a0002c0002t0002g0002 others(13): Show a0001c0001t0001g0159 a0002c0002t0001g0110 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0103 a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0138 a0002c0002t0002g0141 a0002c0002t0002g0145 a0002c0002t0002g0146	18	60	0.3000	30	c.-31 others(41): Show c.-3149_-3148insTATATATATATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar

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