Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CFAP54_chr12_96484577_96880555	96827763	T T	TTATATTA others(44): Show TTATATTATATATAGTTATATATAATATATAATTATATATAATACATAGT AA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0134 a0002c0007t0001g0134	1	265	0.0038	51	c.909 others(70): Show c.9097-1138_9097-1088dupATAGTTATATATAATATATAATTATA TATAATACATAGTAATATATTATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827788	T T	TATATAAT others(44): Show TATATAATTGTATATAATACATAGTAATATATTATATATAGTTATATATA AG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG01358.hp1 others(17): Show HG00544.hp2 HG01123.hp2 HG01358.hp1 HG01975.hp2 HG02148.hp1 NA18747.hp2 NA18947.hp2 NA18954.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18984.hp2 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19065.hp2 NA19081.hp1 NA19084.hp2 NA19091.hp1	a0005 a0055 a0057 a0005 a0055 a0057	a0005c0004 a0005c0015 a0005c0020 others(3): Show a0005c0004 a0005c0015 a0005c0020 a0005c0041 a0055c0089 a0057c0063	a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 others(3): Show a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 a0005c0041t0001 a0055c0089t0001 a0057c0063t0001	a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0012 others(17): Show a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0012 a0005c0004t0001g0013 a0005c0004t0001g0107 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0005c0004t0001g0113 a0005c0004t0001g0115 a0005c0004t0001g0116 a0005c0015t0001g0016 a0005c0015t0001g0034 a0005c0015t0001g0101 a0005c0020t0001g0144 a0005c0020t0001g0213 a0005c0020t0001g0249 a0005c0041t0001g0027 a0055c0089t0001g0142 a0057c0063t0001g0114	20	266	0.0752	51	c.909 others(70): Show c.9097-1218_9097-1217insGTATATAATACATAGTAATATATTAT ATATAGTTATATATAAGATATAATT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP65_chr2_218997846_219046516	219014918	G G	GAGCACGC others(44): Show GAGCACGCAACACACACCTGAGGAGAATGCATGCAACACACACCTGAGAG GA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp2 HG03579.hp2 HG01243.hp2 HG02647.hp2 HG03579.hp2	a0005 a0005	a0005c0043 a0005c0044 a0005c0045 a0005c0043 a0005c0044 a0005c0045	a0005c0043t0001 a0005c0044t0001 a0005c0045t0001 a0005c0043t0001 a0005c0044t0001 a0005c0045t0001	a0005c0043t0001g0056 a0005c0044t0001g0055 a0005c0045t0001g0163 a0005c0043t0001g0056 a0005c0044t0001g0055 a0005c0045t0001g0163	3	320	0.0094	51	c.360 others(68): Show c.3603-925_3603-875dupTCCTCTCAGGTGTGTGTTGCATGCATTC TCCTCAGGTGTGTGTTGCGTGCT	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	21/34			chr2	TogoVar
CFD_chr19_854664_868641	866551	A A	AGGCCTGC others(44): Show AGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCG CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02165.hp2 NA18947.hp2 others(2): Show HG00438.hp2 HG02165.hp2 NA18947.hp2 NA19012.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0001 a0001c0001t0001g0060 a0001c0001t0001g0061	5	270	0.0185	51	c.33 others(62): Show c.3313_*3314insGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTC CCCGTCCACCCGCCGCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2911		chr19	TogoVar
CFD_chr19_854664_868641	866580	C C	CTCCTCCC others(44): Show CTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 NA19080.hp1 HG01123.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	2	148	0.0135	51	c.33 others(62): Show c.3342_*3343insTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCC TCGCCAGCGCTCCCATG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2940		chr19	TogoVar
CFD_chr19_854664_868641	866617	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCGCAGGCCCGCACCCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	278	0.0036	51	c.33 others(62): Show c.3379_*3380insCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCG CAGGCCCGCACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2977		chr19	TogoVar
CFD_chr19_854664_868641	866617	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	278	0.0036	51	c.33 others(62): Show c.3379_*3380insCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCG CGGGCCTGCACCCCTCC	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2977		chr19	TogoVar
CFD_chr19_854664_868641	866668	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02300.hp1 HG03688.hp1 HG01978.hp2 HG02300.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0003	3	280	0.0107	51	c.34 others(62): Show c.3430_*3431insCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCG CAGGCCCGCACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3028		chr19	TogoVar
CFD_chr19_854664_868641	866688	C C	CCTGTCCG others(44): Show CCTGTCCGCCCGCCACGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02055.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	265	0.0075	51	c.34 others(62): Show c.3450_*3451insCTGTCCGCCCGCCACGGGCCTGCACCCCTCGCCA GCGCTCCCATCTCCTCT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3048		chr19	TogoVar
CFD_chr19_854664_868641	866709	T T	TGCACCCC others(44): Show TGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCGCGGGC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	202	0.0050	51	c.34 others(62): Show c.3471_*3472insGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGT CCACCCATCGCGGGCCC	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3069		chr19	TogoVar
CFD_chr19_854664_868641	866719	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCGCAGGCCCGCACCCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	273	0.0037	51	c.34 others(62): Show c.3481_*3482insCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCG CAGGCCCGCACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3079		chr19	TogoVar
CFD_chr19_854664_868641	866733	C C	CTCCTCCC others(44): Show CTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCCTCGCCAGCGCTCCCA TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02970.hp1 HG02258.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0023 a0001c0001t0003g0004 a0001c0001t0003g0023	2	244	0.0082	51	c.34 others(62): Show c.3495_*3496insTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCC TCGCCAGCGCTCCCATG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3093		chr19	TogoVar
CFD_chr19_854664_868641	866803	C C	CGCGGGCC others(44): Show CGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCA CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	272	0.0037	51	c.35 others(62): Show c.3565_*3566insGCGGGCCCACACCCCTCACCAGCGCTCCCATCTC CTCTCCGTCCGCCCACT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3163		chr19	TogoVar
CFD_chr19_854664_868641	866821	A A	ACCAGCGC others(44): Show ACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCT CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	262	0.0038	51	c.35 others(62): Show c.3583_*3584insCCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTG CGGGCCCGCACCCCTCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3181		chr19	TogoVar
CFD_chr19_854664_868641	866848	G G	GCCCACTG others(44): Show GCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA19066.hp2 NA18979.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	197	0.0102	51	c.36 others(62): Show c.3610_*3611insCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCC CATCTCCTCTCCGTCCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3208		chr19	TogoVar
CFD_chr19_854664_868641	866899	A A	ACCCACTG others(44): Show ACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	160	0.0063	51	c.36 others(62): Show c.3661_*3662insCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCC CATCTCCTCTCCGTCCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3259		chr19	TogoVar
CFD_chr19_854664_868641	866899	A A	ACCCGCCG others(44): Show ACCCGCCGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCCTCTCCGTC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	160	0.0063	51	c.36 others(62): Show c.3661_*3662insCCCGCCGCGGGCCCACACCCCTCACCAGCGCTCC CATCTCCTCTCCGTCCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3259		chr19	TogoVar
CFD_chr19_854664_868641	866923	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	279	0.0036	51	c.36 others(62): Show c.3685_*3686insCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCG CGGGCCCACACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3283		chr19	TogoVar
CFI_chr4_109735695_109806999	109753296	A A	AAATATTT others(44): Show AAATATTTATAATATATATTTATTATATAAATATTTATAATATATATTTA TT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	250	0.0040	51	c.905 others(66): Show c.905-794_905-793insAATAAATATATATTATAAATATTTATATAA TAAATATATATTATAAATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753296	A A	ATTTATTA others(44): Show ATTTATTATATAAATAAATATTTATAATATATATTTATAATATATTTATT AT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01109.hp2 others(18): Show HG00099.hp1 HG00639.hp1 HG01109.hp2 HG01255.hp2 HG02145.hp2 HG02165.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG03017.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03831.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18998.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0011 a0001c0001 a0001c0002 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0008c0011t0001	a0001c0001t0001g0011 a0001c0001t0001g0264 a0001c0001t0001g0266 others(17): Show a0001c0001t0001g0011 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0293 a0001c0001t0001g0321 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0133 a0001c0002t0001g0142 a0001c0002t0001g0281 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0126 a0008c0011t0001g0108	21	270	0.0778	51	c.905 others(66): Show c.905-794_905-793insATAATAAATATATTATAAATATATATTATA AATATTTATTTATATAATAAA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753355	A A	AAATATTT others(44): Show AAATATTTATAATATATATTTATTATAAATATTTATAATATATATTTATT AT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp1 NA19030.hp2 others(1): Show HG02723.hp2 HG03098.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150	4	337	0.0119	51	c.905 others(66): Show c.905-853_905-852insATAATAAATATATATTATAAATATTTATAA TAAATATATATTATAAATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753355	A A	ATTTATTA others(44): Show ATTTATTATATAAATAAATATTTATAATATATATTTATAATATATTTATT AT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0248 a0002c0003t0001g0248	1	334	0.0030	51	c.905 others(66): Show c.905-853_905-852insATAATAAATATATTATAAATATATATTATA AATATTTATTTATATAATAAA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CGNL1_chr15_57371505_57555717	57480248	G G	GAGCTCAC others(44): Show GAGCTCACGCCTGTAATCTTAGCACTTTGGGAGGTCGAGGTGGGTGGATC AC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG00735.hp1 others(32): Show HG00438.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01975.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03669.hp1 HG04199.hp2 NA18951.hp2 NA18994.hp2 NA19004.hp1 NA19030.hp1 NA19060.hp2 NA19068.hp2 NA19084.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0013 a0014 a0021 a0026	a0001c0001 a0001c0005 a0001c0015 others(13): Show a0001c0001 a0001c0005 a0001c0015 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0009c0014 a0010c0012 a0011c0013 a0012c0018 a0013c0019 a0014c0016 a0021c0035 a0026c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0005t0001 a0001c0015t0001 a0002c0002t0008 a0002c0002t0040 a0003c0003t0001 a0003c0003t0004 a0004c0004t0001 a0004c0004t0030 a0005c0006t0003 a0006c0007t0009 a0009c0014t0006 a0010c0012t0020 a0011c0013t0009 a0012c0018t0031 a0013c0019t0006 a0014c0016t0001 a0021c0035t0012 a0026c0023t0006	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 others(32): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0139 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0226 a0001c0001t0001g0247 a0001c0001t0001g0272 a0001c0001t0002g0070 a0001c0001t0004g0057 a0001c0001t0019g0160 a0001c0005t0001g0097 a0001c0005t0001g0222 a0001c0015t0001g0019 a0002c0002t0008g0039 a0002c0002t0040g0159 a0003c0003t0001g0178 a0003c0003t0004g0290 a0004c0004t0001g0011 a0004c0004t0001g0115 a0004c0004t0001g0205 a0004c0004t0030g0137 a0005c0006t0003g0176 a0006c0007t0009g0288 a0009c0014t0006g0096 a0009c0014t0006g0292 a0010c0012t0020g0024 a0011c0013t0009g0012 a0012c0018t0031g0264 a0013c0019t0006g0158 a0014c0016t0001g0008 a0021c0035t0012g0284 a0026c0023t0006g0184	35	292	0.1199	51	c.240 others(72): Show c.2403+18357_2403+18407dupAGCTCACGCCTGTAATCTTAGCAC TTTGGGAGGTCGAGGTGGGTGGATCAC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHCHD3_chr7_132779870_133087090	132983985	C C	CTCTCCCT others(44): Show CTCTCCCTCTCCCCACGGTCTCCCTCTCCCCACGGTCTCCCTCTCCCCAC GG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp2 HG01496.hp1 others(13): Show HG00280.hp2 HG01243.hp2 HG01496.hp1 HG02273.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03453.hp2 HG03579.hp1 NA19010.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0182 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0265 a0001c0001t0001g0302 a0001c0004t0002g0041	16	111	0.1441	51	c.252 others(68): Show c.252-8750_252-8700dupCCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGACCGTGGGGAGAGGGAGA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126862912	T T	TCCTCCTC others(44): Show TCCTCCTCCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCATCAC CA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	212	0.0047	51	c.495 others(70): Show c.495+10193_495+10194insTCCACCATCATCACCTCCTCCTCCTC CTCCACCATCACCACCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862993	A A	ACCATTAC others(44): Show ACCATTACAACCGCCTCCTCCACCATCATCACCACCTCCTCCTCCTCCTC CT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01361.hp2 HG01433.hp2 others(11): Show HG01168.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02145.hp1 HG02273.hp2 HG02683.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG04204.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0001 a0002c0002t0001 a0004c0005t0001	a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 others(11): Show a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0004c0005t0001g0051	14	213	0.0657	51	c.495 others(70): Show c.495+10267_495+10268insTACAACCGCCTCCTCCACCATCATCA CCACCTCCTCCTCCTCCTCCTCCAT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD3_chr17_7883789_7917755	7885304	T T	TCCGCCGC others(44): Show TCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	359	0.0028	51	c.-36 others(62): Show c.-3697_-3696insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3484		chr17	TogoVar
CHI3L1_chr1_203173931_203191704	203174246	G G	GCCCCCCC others(44): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	465	0.0022	51	c.51 others(62): Show c.5198_*5199insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGG	CHI3L1	ENSG00000133048.13	transcript	ENST00000255409.8	protein_coding		4684		chr1	TogoVar
CHL1_chr3_191763_414417	226374	T T	TTATATAT others(44): Show TTATATATATATATATACTTATATATTATATATTATATAATAGAATATTT TA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0241 a0001c0001t0013g0241	1	86	0.0116	51	c.-17 others(72): Show c.-174-18227_-174-18226insTATACTTATATATTATATATTATA TAATAGAATATTTTATATATATATATA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRM3_chr1_239381568_239920450	239662893	C C	CTCCTCTT others(44): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03710.hp2 HG01496.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0066 a0001c0001t0010g0103 a0001c0001t0003g0066 a0001c0001t0010g0103	2	8	0.2500	51	c.-24 others(72): Show c.-249-15291_-249-15290insCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239732284	T T	TATACCTA others(44): Show TATACCTAATATCTCACTTAGATAAGTATACCTAATATCTCACTTAGATA AG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03195.hp1 NA19000.hp1 HG01106.hp2 HG03195.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0056 a0001c0001t0001 a0001c0001t0018 a0001c0001t0056	a0001c0001t0001g0054 a0001c0001t0018g0022 a0001c0001t0056g0084 a0001c0001t0001g0054 a0001c0001t0018g0022 a0001c0001t0056g0084	3	114	0.0263	51	c.-14 others(72): Show c.-147+53997_-147+54047dupATACCTAATATCTCACTTAGATAA GTATACCTAATATCTCACTTAGATAAG	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA3_chr15_78590309_78625996	78613851	T T	TAGGGAAG others(44): Show TAGGGAAGACTTTATCATTGGACGGCGCAACCGGCCTAACGGGCCGCTCT CA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0113 a0001c0008t0004g0113	1	408	0.0025	51	c.377 others(68): Show c.377+3172_377+3173insTGAGAGCGGCCCGTTAGGCCGGTTGCGC CGTCCAATGATAAAGTCTTCCCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	4/5			chr15	TogoVar
CLDN8_chr21_30209006_30221097	30210286	T T	TATATATA others(44): Show TATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGT AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	461	0.0022	51	c.49 others(62): Show c.4961_*4962insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3719		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210290	T T	TATATATA others(44): Show TATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGT AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	3	461	0.0065	51	c.49 others(62): Show c.4957_*4958insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3715		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210422	T T	TATATATA others(44): Show TATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGT AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0000 a0005c0004t0004g0000	1	461	0.0022	51	c.48 others(62): Show c.4825_*4826insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3583		chr21	TogoVar
CLMN_chr14_95176940_95324908	95319909	G G	GGCGGGCG others(44): Show GGCGGGCGCGGGCGGGGCGCGGGCGCGGGCGGGGCGCGGGCGCGGGCGGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02735.hp2 HG03041.hp1 others(2): Show HG02300.hp2 HG02735.hp2 HG03041.hp1 HG03491.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0026 a0002c0004t0008	a0001c0001t0001g0094 a0001c0001t0003g0088 a0001c0001t0004g0089 others(2): Show a0001c0001t0001g0094 a0001c0001t0003g0088 a0001c0001t0004g0089 a0001c0001t0026g0082 a0002c0004t0008g0157	5	166	0.0301	51	c.-11 others(60): Show c.-118_-117insGCCCCGCCCGCGCCCGCGCCCCGCCCGCGCCCGCGC CCCGCCCGCGCCCGC	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding		2		chr14	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(44): Show CCTTCCTTCCTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0231 a0001c0001t0042g0231	1	15	0.0667	51	c.602 others(68): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAAGAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CMC1_chr3_28236619_28330142	28278044	C C	CTGATTGT others(44): Show CTGATTGTGTGATTGATGTGATTGTGTGATTGATGTGATTGTGTGATTGA TG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0251 a0001c0001t0018g0251	1	239	0.0042	51	c.109 others(70): Show c.109+14704_109+14705insTGTGATTGATGTGATTGTGTGATTGA TGTGATTGTGTGATTGATGTGATTG	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNNM2_chr10_102913294_103095222	102992397	T T	TGAGCAGC others(44): Show TGAGCAGCTGGGATTTACAGGCATCTGCCACCAAGCCCTGCTAATTTTTG TA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	268	0.0037	51	c.162 others(72): Show c.1622-57309_1622-57259dupGAGCAGCTGGGATTTACAGGCATC TGCCACCAAGCCCTGCTAATTTTTGTA	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTN6_chr3_1088024_1409217	1122389	A A	AGGAGGAA others(44): Show AGGAGGAAGGAAGGAAGGGAGGGAGGAATGAAGGAGGAAAGAAGGAAGGG AG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0188 a0001c0005t0001g0188	1	224	0.0045	51	c.-82 others(70): Show c.-82-25531_-82-25530insGGAAGGAAGGGAGGGAGGAATGAAGG AGGAAAGAAGGAAGGGAGGGAGGAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP4_chr16_76272401_76565757	76470497	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0143 a0004c0010t0002g0143	1	270	0.0037	51	c.165 others(70): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATATATATATATATATATATATAT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23			chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124707036	A A	AAGAAGAA others(44): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGA GG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0058 a0001c0002t0008g0058	1	56	0.0179	51	c.207 others(72): Show c.2078-40188_2078-40187insAAGAAGAAGAAGAAGAAGAAGAAG GAGGAGGAGGAGGAGGAGGAGGAGAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COG3_chr13_45459939_45541701	45540162	T T	TCAGGGTT others(44): Show TCAGGGTTGGAGAGAGCCTCTGGGGCTGTGCAGGAAGCGTGTGGGATCCA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02486.hp1 HG03453.hp2 HG01975.hp1 HG02486.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0005 a0001c0002 a0002c0003 a0002c0005	a0001c0002t0001 a0002c0003t0002 a0002c0005t0013 a0001c0002t0001 a0002c0003t0002 a0002c0005t0013	a0001c0002t0001g0321 a0002c0003t0002g0210 a0002c0005t0013g0154 a0001c0002t0001g0321 a0002c0003t0002g0210 a0002c0005t0013g0154	3	334	0.0090	51	c.54 others(62): Show c.5431_*5432insCAGGGTTGGAGAGAGCCTCTGGGGCTGTGCAGGA AGCGTGTGGGATCCAGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding		3462		chr13	TogoVar
COL26A1_chr7_101357875_101564024	101489756	C C	CTCTTTCT others(44): Show CTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	123	0.0081	51	c.385 others(70): Show c.385+41989_385+41990insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(44): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAG GG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	180	0.0056	51	c.85- others(68): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT TT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18947.hp2 NA18960.hp1 HG02258.hp2 NA18947.hp2 NA18960.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0003 a0005c0005 a0001c0001 a0004c0003 a0005c0005	a0001c0001t0001 a0004c0003t0003 a0005c0005t0007 a0001c0001t0001 a0004c0003t0003 a0005c0005t0007	a0001c0001t0001g0138 a0004c0003t0003g0283 a0005c0005t0007g0139 a0001c0001t0001g0138 a0004c0003t0003g0283 a0005c0005t0007g0139	3	58	0.0517	51	c.546 others(66): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18955.hp2 NA21309.hp2 HG01975.hp2 NA18955.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0039 a0001c0001 a0003c0039	a0001c0001t0001 a0001c0001t0002 a0003c0039t0010 a0001c0001t0001 a0001c0001t0002 a0003c0039t0010	a0001c0001t0001g0154 a0001c0001t0002g0298 a0003c0039t0010g0005 a0001c0001t0001g0154 a0001c0001t0002g0298 a0003c0039t0010g0005	3	58	0.0517	51	c.546 others(66): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02055.hp2 NA18962.hp2 others(2): Show HG01358.hp2 HG02055.hp2 NA18962.hp2 NA18971.hp1 NA18972.hp2	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0001c0047 a0005c0005 others(1): Show a0001c0001 a0001c0047 a0005c0005 a0012c0022	a0001c0001t0001 a0001c0001t0002 a0001c0047t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0047t0002 a0005c0005t0007 a0012c0022t0001	a0001c0001t0001g0200 a0001c0001t0002g0172 a0001c0047t0002g0026 others(2): Show a0001c0001t0001g0200 a0001c0001t0002g0172 a0001c0047t0002g0026 a0005c0005t0007g0163 a0012c0022t0001g0004	5	60	0.0833	51	c.546 others(66): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0119 a0005c0005t0002g0119	1	56	0.0179	51	c.546 others(66): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA19078.hp1 NA18946.hp2 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0042 a0001c0002t0001g0007 a0001c0002t0001g0042	2	130	0.0154	51	c.-11 others(62): Show c.-1118_-1117insAAAAAAAAAAAAAAATATATATATATATATATAT ATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar

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