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
CLIC5_chr6_45893456_46020860	45958443	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02486.hp2 others(4): Show HG01884.hp2 HG02055.hp1 HG02486.hp2 HG03516.hp1 HG03540.hp2 HG03942.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0048 a0004c0004t0044	a0001c0001t0001g0001 a0001c0001t0003g0258 a0001c0001t0016g0039 others(3): Show a0001c0001t0001g0001 a0001c0001t0003g0258 a0001c0001t0016g0039 a0001c0001t0016g0120 a0001c0001t0048g0331 a0004c0004t0044g0007	7	210	0.0333	30	c.64- others(45): Show c.64-3200_64-3199insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958443	T T	TATATACA others(23): Show TATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00558.hp1 others(17): Show HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG02257.hp1 HG02523.hp2 HG02738.hp1 HG03139.hp1 HG03579.hp2 NA18612.hp2 NA18948.hp2 NA18950.hp1 NA18965.hp1 NA18967.hp1 NA18999.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(17): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0088 a0001c0001t0001g0129 a0001c0001t0001g0327 a0001c0001t0002g0023 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0114 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0219 a0001c0001t0002g0315 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0134 a0001c0001t0010g0261	20	223	0.0897	30	c.64- others(45): Show c.64-3200_64-3199insGTGTGTGTGTGTGTGTGTGTGTGTGTATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958445	T T	TATACACA others(23): Show TATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01346.hp2 others(8): Show HG00738.hp2 HG01071.hp2 HG01346.hp2 HG01358.hp2 HG01981.hp2 HG02109.hp2 HG02965.hp2 HG03540.hp1 NA18973.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0029 a0001c0001t0033	a0001c0001t0001g0053 a0001c0001t0001g0137 a0001c0001t0001g0189 others(8): Show a0001c0001t0001g0053 a0001c0001t0001g0137 a0001c0001t0001g0189 a0001c0001t0002g0016 a0001c0001t0002g0230 a0001c0001t0002g0311 a0001c0001t0003g0228 a0001c0001t0009g0302 a0001c0001t0010g0241 a0001c0001t0029g0094 a0001c0001t0033g0089	11	251	0.0438	30	c.64- others(45): Show c.64-3202_64-3201insGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	46005980	G G	GTATATAT others(23): Show GTATATATATATATATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0277 a0001c0001t0004g0277	1	309	0.0032	30	c.63+ others(45): Show c.63+9499_63+9500insTATATATAAATATATATATATATATATATA	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIP1_chr12_122266469_122427669	122293002	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	152	0.0066	30	c.359 others(49): Show c.3595-4462_3595-4461insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	20/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122379943	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18960.hp2 HG01496.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0184 a0001c0001t0002g0186	2	139	0.0144	30	c.85+ others(43): Show c.85+424_85+425insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	2/25			chr12	TogoVar
CLMN_chr14_95176940_95324908	95245178	A A	ATATATAT others(23): Show ATATATATATATATATAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	272	0.0037	30	c.83- others(47): Show c.83-15075_83-15046dupATATATATATATATTATATATATATATA TA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123093595	A A	ACCCAAAG others(23): Show ACCCAAAGTGCTAGTATTATACTTTGGGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00642.hp1 others(68): Show HG00140.hp2 HG00609.hp1 HG00642.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG04115.hp2 NA18906.hp2 NA18954.hp1 NA18960.hp1 NA18983.hp1 NA18990.hp1 NA18992.hp2 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19083.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0001t0046 a0001c0001t0050	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 others(68): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0002g0191 a0001c0001t0002g0228 a0001c0001t0002g0238 a0001c0001t0002g0248 a0001c0001t0003g0114 a0001c0001t0003g0124 a0001c0001t0003g0139 a0001c0001t0004g0020 a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0067 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0086 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0110 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0173 a0001c0001t0007g0187 a0001c0001t0008g0211 a0001c0001t0008g0220 a0001c0001t0008g0230 a0001c0001t0008g0233 a0001c0001t0008g0237 a0001c0001t0008g0244 a0001c0001t0008g0247 a0001c0001t0012g0186 a0001c0001t0013g0167 a0001c0001t0013g0178 a0001c0001t0014g0116 a0001c0001t0014g0126 a0001c0001t0014g0135 a0001c0001t0014g0182 a0001c0001t0017g0120 a0001c0001t0017g0121 a0001c0001t0017g0168 a0001c0001t0019g0188 a0001c0001t0019g0210 a0001c0001t0019g0214 a0001c0001t0020g0227 a0001c0001t0020g0246 a0001c0001t0020g0250 a0001c0001t0023g0016 a0001c0001t0023g0062 a0001c0001t0024g0009 a0001c0001t0024g0074 a0001c0001t0028g0222 a0001c0001t0028g0239 a0001c0001t0031g0096 a0001c0001t0035g0150 a0001c0001t0036g0115 a0001c0001t0043g0189 a0001c0001t0046g0208 a0001c0001t0050g0253	71	252	0.2817	30	c.186 others(47): Show c.186+4170_186+4199dupAGGCCCAAAGTATAATACTAGCACTTTG GG	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	2/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123113305	T T	TTGTCTTT others(23): Show TTGTCTTTTGTGTATCAAGAGATCACAATCA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0007 a0002c0002t0015g0007	1	252	0.0040	30	c.29- others(47): Show c.29-15383_29-15354dupTGATTGTGATCTCTTGATACACAAAAGA CA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(23): Show AAAGAAAGAAAGAAAGAAGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0227 a0001c0001t0020g0227	1	125	0.0080	30	c.28+ others(47): Show c.28+44432_28+44433insCCTTCCTTCCTTCTTCTTTCTTTCTTTC TT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN6_chr15_68201992_68234728	68229762	A A	AGCGGGGC others(23): Show AGCGGGGCGGAGCGGGGCGGAGCGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02523.hp1 NA18989.hp1 HG02273.hp1 HG02523.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032	3	320	0.0094	30	c.-17 others(39): Show c.-179_-178insCTCCCTCCGCTCCGCCCCGCTCCGCCCCGC	CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding		35		chr15	TogoVar
CLN6_chr15_68201992_68234728	68229767	A A	AGCGGAGC others(23): Show AGCGGAGCGGAGCGGAGCGGAGGGAGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01934.hp1 HG01981.hp1 others(2): Show HG00733.hp1 HG01934.hp1 HG01981.hp1 NA18983.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0153 a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0153	5	149	0.0336	30	c.-18 others(39): Show c.-184_-183insCCCGCCTCCCTCCGCTCCGCTCCGCTCCGC	CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding		40		chr15	TogoVar
CLN6_chr15_68201992_68234728	68229767	A A	AGCGGAGC others(23): Show AGCGGAGCGGGGCGGAGCGGAGGGAGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02015.hp1 HG02015.hp2 others(4): Show HG01167.hp2 HG02015.hp1 HG02015.hp2 NA18966.hp2 NA18970.hp1 NA18994.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0106 a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0019g0147	7	151	0.0464	30	c.-18 others(39): Show c.-184_-183insCCCGCCTCCCTCCGCTCCGCCCCGCTCCGC	CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding		40		chr15	TogoVar
CLN6_chr15_68201992_68234728	68229767	A A	AGGGAGGC others(23): Show AGGGAGGCGGGGCGGAGCGGAGGGAGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG03239.hp1 others(1): Show HG01081.hp1 HG01192.hp1 HG03239.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0107 a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0107	4	148	0.0270	30	c.-18 others(39): Show c.-184_-183insCCCGCCTCCCTCCGCTCCGCCCCGCCTCCC	CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding		40		chr15	TogoVar
CLNK_chr4_10481395_10689768	10535264	A A	AAAGAAAG others(23): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0014 a0001c0001t0019g0014	1	313	0.0032	30	c.603 others(47): Show c.603-2982_603-2981insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654384	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02897.hp1 HG02074.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0034 a0001c0001t0013 a0001c0001t0034	a0001c0001t0013g0255 a0001c0001t0034g0194 a0001c0001t0013g0255 a0001c0001t0034g0194	2	223	0.0090	30	c.11+ others(47): Show c.11+13474_11+13475insATATATATATATATATATATATATATAT AT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654389	A A	ATATATAT others(23): Show ATATATATATATATATTTATATATTTATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(25): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00642.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02735.hp2 HG03239.hp2 HG03688.hp2 HG03927.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18966.hp2 NA18969.hp2 NA18988.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0056 a0001c0008t0055 a0002c0002t0006	a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0293 others(25): Show a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0002g0046 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0003g0090 a0001c0001t0003g0308 a0001c0001t0004g0290 a0001c0001t0005g0309 a0001c0001t0006g0010 a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0301 a0001c0001t0007g0311 a0001c0001t0008g0299 a0001c0001t0010g0313 a0001c0001t0011g0285 a0001c0001t0014g0287 a0001c0001t0056g0021 a0001c0008t0055g0317 a0002c0002t0006g0047	28	294	0.0952	30	c.11+ others(47): Show c.11+13469_11+13470insAATATAAATATATAAATATATATATATA TA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLOCK_chr4_55422903_55551909	55445582	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0158 a0001c0001t0013g0158	1	96	0.0104	30	c.154 others(47): Show c.1540-798_1540-797insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	18/22			chr4	TogoVar
CLSTN1_chr1_9723926_9828965	9778223	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0009 a0001c0003t0005g0009	1	36	0.0278	30	c.92- others(45): Show c.92-4859_92-4830dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	1/18			chr1	TogoVar
CLSTN2_chr3_139930185_140582397	139998336	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02970.hp1 HG01496.hp1 HG02970.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0087 a0003c0011t0002g0101 a0003c0011t0002g0087 a0003c0011t0002g0101	2	6	0.3333	30	c.109 others(49): Show c.109+62873_109+62874insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140251584	G G	GTTCCTTT others(23): Show GTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG02145.hp1 others(5): Show HG00738.hp1 HG01167.hp2 HG02145.hp1 HG02280.hp1 HG02615.hp2 HG03209.hp1 HG03704.hp2 NA19043.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007 a0005c0013 a0007c0020	a0001c0001t0006 a0001c0001t0013 a0001c0003t0019 others(5): Show a0001c0001t0006 a0001c0001t0013 a0001c0003t0019 a0001c0003t0020 a0002c0002t0040 a0002c0007t0003 a0005c0013t0008 a0007c0020t0034	a0001c0001t0006g0040 a0001c0001t0013g0090 a0001c0003t0019g0062 others(5): Show a0001c0001t0006g0040 a0001c0001t0013g0090 a0001c0003t0019g0062 a0001c0003t0020g0009 a0002c0002t0040g0078 a0002c0007t0003g0083 a0005c0013t0008g0099 a0007c0020t0034g0102	8	24	0.3333	30	c.232 others(49): Show c.232+75537_232+75566dupTTCCTTTCCTTTCCTTTCCTTTCCTT TCCT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140353220	A A	AATATATA others(23): Show AATATATATATGTATGTTTACACATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0085 a0002c0004t0007g0085	1	110	0.0091	30	c.233 others(49): Show c.233-50398_233-50369dupGTATGTTTACACATATATATATATAT ATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140419650	C C	CACGTATA others(23): Show CACGTATATATACATATATGAATATGTATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0082 a0001c0001t0035g0082	1	30	0.0333	30	c.638 others(47): Show c.638-1462_638-1433dupATATATGAATATGTATATACGTATATAT AC	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLTA_chr9_36185921_36217059	36216327	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGCGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA19091.hp2 NA18984.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	127	0.0157	30	c.45 others(41): Show c.4553_*4554insTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding		4269		chr9	TogoVar
CLTA_chr9_36185921_36217059	36216327	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03540.hp1 HG02735.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0007 a0001c0002t0003g0003 a0001c0001t0001g0007 a0001c0002t0003g0003	2	127	0.0157	30	c.45 others(41): Show c.4553_*4554insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding		4269		chr9	TogoVar
CLTCL1_chr22_19174473_19296719	19190596	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19084.hp2 HG02622.hp1 NA19084.hp2	a0001 a0017 a0001 a0017	a0001c0004 a0017c0022 a0001c0004 a0017c0022	a0001c0004t0003 a0017c0022t0003 a0001c0004t0003 a0017c0022t0003	a0001c0004t0003g0181 a0017c0022t0003g0311 a0001c0004t0003g0181 a0017c0022t0003g0311	2	37	0.0541	30	c.432 others(47): Show c.4323+707_4323+708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	27/32			chr22	TogoVar
CLUL1_chr18_591988_655182	627009	A A	AAGAGAGA others(23): Show AAGAGAGAGAAAGAAAGAGAAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01192.hp2 others(2): Show HG00323.hp2 HG01081.hp1 HG01192.hp2 NA18994.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0189 a0001c0001t0001g0194 others(2): Show a0001c0001t0001g0087 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0219 a0001c0001t0001g0389	5	336	0.0149	30	c.424 others(43): Show c.424-85_424-84insGAGAGAAAGAAAGAGAAAAGAAGAAAGAGA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627009	A A	AAGAGAGA others(23): Show AAGAGAGAGAAGGAAAGAGAAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0316 a0002c0006t0002g0316	1	332	0.0030	30	c.424 others(43): Show c.424-85_424-84insGAGAGAAGGAAAGAGAAAAGAAGAAAGAGA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627013	A A	AAGAGAGA others(23): Show AAGAGAGAGAAAGAAAGAGAAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 NA18946.hp2 HG00597.hp2 HG00733.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0286 a0001c0001t0001g0322 a0001c0001t0001g0226 a0001c0001t0001g0286 a0001c0001t0001g0322	3	349	0.0086	30	c.424 others(43): Show c.424-81_424-80insGAGAGAAAGAAAGAGAAAAGAAGAAAGAGA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AAGAAGAA others(23): Show AAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03492.hp2 NA18957.hp1 others(2): Show HG02148.hp1 HG03492.hp2 NA18957.hp1 NA19005.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0200 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0200 a0001c0001t0001g0333 a0001c0001t0001g0396	5	126	0.0397	30	c.424 others(43): Show c.424-63_424-62insGAAAGAGAAAGAAAGAAAAGAAAAAGAGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLU_chr8_27591917_27619700	27593372	A A	AGTTACGT others(23): Show AGTTACGTTACGTTACGTTACGTTACGTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA19081.hp1 HG02071.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0002g0191 a0001c0001t0001g0026 a0001c0001t0002g0191	2	49	0.0408	30	c.48 others(41): Show c.4868_*4869insGTAACGTAACGTAACGTAACGTAACGTAAC	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding		3544		chr8	TogoVar
CLVS2_chr6_122991235_123077925	123040769	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18972.hp2 NA18998.hp1 others(4): Show NA18906.hp2 NA18972.hp2 NA18998.hp1 NA18999.hp2 NA19030.hp1 NA19076.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0043	a0001c0001t0001g0084 a0001c0001t0002g0229 a0001c0001t0012g0051 others(4): Show a0001c0001t0001g0084 a0001c0001t0002g0229 a0001c0001t0012g0051 a0001c0001t0012g0058 a0001c0001t0012g0059 a0001c0001t0043g0202 a0001c0001t0043g0234	7	163	0.0429	30	c.565 others(47): Show c.565-7845_565-7816dupAAGAAAAGAAAAGAAAAGAAAAGAAAAG AA	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CMC1_chr3_28236619_28330142	28258060	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0256 a0001c0001t0010g0256	1	82	0.0122	30	c.20- others(45): Show c.20-5205_20-5204insTATATATATATATATATATATATATATATA	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80971599	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02145.hp1 others(8): Show HG01167.hp2 HG01169.hp2 HG02145.hp1 HG02630.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0022 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0022 a0001c0001t0041 a0001c0001t0051	a0001c0001t0002g0049 a0001c0001t0002g0245 a0001c0001t0002g0262 others(5): Show a0001c0001t0002g0049 a0001c0001t0002g0245 a0001c0001t0002g0262 a0001c0001t0007g0006 a0001c0001t0007g0025 a0001c0001t0022g0232 a0001c0001t0041g0178 a0001c0001t0051g0060	11	375	0.0293	30	c.44 others(41): Show c.4493_*4494insATATATATATATATATATATATATATATAT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4493		chr16	TogoVar
CMIP_chr16_81439808_81716762	81667799	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0043 a0001c0005t0043	a0001c0005t0043g0252 a0001c0005t0043g0252	1	119	0.0084	30	c.826 others(47): Show c.826-2342_826-2341insAGAGAGAGAGAGAGAGAGAGAGTGTGTG TG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667799	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	119	0.0084	30	c.826 others(47): Show c.826-2342_826-2341insAGAGAGAGAGAGAGAGAGTGTGTGTGTG TG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMSS1_chr3_99812862_100186732	100117878	T T	TATATATA others(23): Show TATATATATACACATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	134	0.0075	30	c.65- others(47): Show c.65-29094_65-29093insTATATATACACATATATATATATATATA CA	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM4_chr16_66609750_66701743	66683189	A A	ATACGTAT others(23): Show ATACGTATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	315	0.0032	30	c.186 others(49): Show c.186+13150_186+13151insCGTATATATATATATATATATATATA CGTA	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/3			chr16	TogoVar
CMTM7_chr3_32386853_32460528	32430681	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	169	0.0059	30	c.160 others(49): Show c.160-11154_160-11125dupTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	59	0.0169	30	c.148 others(49): Show c.148-38298_148-38297insATATATATATATATATATATATATTT TTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	59	0.0169	30	c.148 others(49): Show c.148-38298_148-38297insATATATATATATATATATATATTTTT TTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	59	0.0169	30	c.148 others(49): Show c.148-38298_148-38297insATATATATATATATATATTTTTTTTT TTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	59	0.0169	30	c.148 others(49): Show c.148-38298_148-38297insATATATATATATATTTTTTTTTTTTT TTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNBD1_chr8_86861415_87387859	87129069	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19002.hp1 HG02809.hp2 NA19002.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0053 a0004c0004t0001g0148 a0001c0001t0001g0053 a0004c0004t0001g0148	2	4	0.5000	30	c.432 others(49): Show c.432-76902_432-76901insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87190877	A A	ATACATGT others(23): Show ATACATGTACCTATATCTATTTAGATATAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00741.hp2 others(33): Show HG00099.hp2 HG00140.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01981.hp2 HG02055.hp1 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03688.hp1 HG04204.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 a0001c0008t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0003g0134 a0001c0006t0001g0040 a0001c0006t0001g0098 a0001c0008t0001g0147 a0002c0002t0001g0080 a0002c0002t0001g0090 a0004c0004t0001g0148	36	120	0.3000	30	c.432 others(49): Show c.432-15107_432-15106insCTATATCTATTTAGATATAGGTACAT GTAC	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNDP1_chr18_74529500_74592212	74590360	G G	GCCCCCCC others(23): Show GCCCCCCCCCTCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0016 a0001c0001t0031g0016	1	388	0.0026	30	c.57 others(41): Show c.5798_*5799insCCCCCCCCCTCCCCCCCCCCCCCCCCCCCC	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding		3149		chr18	TogoVar
CNGA2_chrX_151729746_151750564	151743041	T T	TGTGTGTG others(23): Show TGTGTGTGTATACACACACACATATATATAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	208	0.0048	30	c.590 others(43): Show c.590-52_590-51insGTGTGTGTATACACACACACATATATATAC	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6			chrX	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTCTTT others(23): Show CTTTCTTTTTCTTTCTTTCCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0335 a0001c0015t0001g0335	1	227	0.0044	30	c.43 others(41): Show c.4364_*4365insAAAGAAAGAAAGGAAAGAAAGAAAAAGAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTTTCT others(23): Show CTTTTTCTTTCTTTCCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0306 a0001c0013t0001g0306	1	227	0.0044	30	c.43 others(41): Show c.4364_*4365insAAAGAAAGAAAGAAAGGAAAGAAAGAAAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57885557	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0009 a0009	a0009c0032 a0009c0032	a0009c0032t0002 a0009c0032t0002	a0009c0032t0002g0269 a0009c0032t0002g0269	1	236	0.0042	30	c.346 others(49): Show c.3463-1101_3463-1100insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32			chr16	TogoVar

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