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
CADM2_chr3_84953989_86079429	85568473	C C	CTCTCTTT others(27): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	53	0.0189	34	c.62- others(53): Show c.62-158046_62-158045insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85657777	C C	CAGATATA others(27): Show CAGATATATATATATACACAGATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG01516.hp1 others(20): Show HG01099.hp2 HG01243.hp2 HG01516.hp1 HG01517.hp1 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG03195.hp2 HG03239.hp2 HG03540.hp1 HG04115.hp2 HG04204.hp2 NA18949.hp2 NA18982.hp2 NA18989.hp1 NA19003.hp2 NA19060.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0001c0001t0025 a0001c0001t0038 a0001c0001t0039 a0001c0001t0047 a0001c0002t0007 a0001c0002t0016 a0001c0002t0034 a0001c0002t0046 a0001c0002t0051	a0001c0001t0001g0016 a0001c0001t0001g0070 a0001c0001t0001g0084 others(20): Show a0001c0001t0001g0016 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0083 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0007g0059 a0001c0001t0020g0043 a0001c0001t0025g0132 a0001c0001t0038g0142 a0001c0001t0039g0072 a0001c0001t0047g0038 a0001c0002t0007g0095 a0001c0002t0016g0048 a0001c0002t0016g0098 a0001c0002t0034g0046 a0001c0002t0046g0139 a0001c0002t0051g0005	23	77	0.2987	34	c.62- others(51): Show c.62-68744_62-68743insGATATATATATATACACAGATATATATA TATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122366672	T T	TATATATA others(27): Show TATATATATATACGTATATATATATATACGTATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG01109.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0040 a0001c0002t0001g0124 a0001c0001t0001g0040 a0001c0002t0001g0124	2	124	0.0161	34	c.338 others(53): Show c.3388-5693_3388-5660dupGTATACGTATATATATATATACGTAT ATATATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	25/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122447543	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0032 a0001c0003t0002g0032	1	30	0.0333	34	c.228 others(53): Show c.2288+3830_2288+3831insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	15/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122645367	G G	GTATACAC others(27): Show GTATACACACATATGTACATGTGTATATATGTACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20905.hp2 HG02486.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0065 a0001c0002t0001g0044 a0001c0002t0001g0065	2	22	0.0909	34	c.787 others(53): Show c.787-16040_787-16039insTGTACATATATACACATGTACATATG TGTGTATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122645387	G G	GTGTGTAT others(27): Show GTGTGTATATATGTACATATACACACATATGTACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01255.hp1 others(14): Show HG01175.hp2 HG01243.hp1 HG01255.hp1 HG02280.hp1 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0004c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0053 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0002g0006 a0001c0002t0001g0012 a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0004t0002g0049 a0004c0008t0001g0092	17	123	0.1382	34	c.787 others(53): Show c.787-16060_787-16059insTGTACATATGTGTGTATATGTACATA TATACACA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122645404	C C	CATATACA others(27): Show CATATACACACATGTATATGTGTGTATATATGTAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0092 a0004c0008t0001g0092	1	122	0.0082	34	c.787 others(53): Show c.787-16110_787-16077dupATACATATATACACACATATACATGT GTGTATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29			chr7	TogoVar
CAGE1_chr6_7321659_7394742	7358027	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	131	0.0076	34	c.219 others(53): Show c.2194-1932_2194-1899dupATATATATATATATATATATATATAT ATATATAT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71382139	A A	AGAAGGAA others(27): Show AGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	329	0.0030	34	c.343 others(49): Show c.343-561_343-560insGGAAGGAAAGAAAAGGAAGGAAGGAAGGAA AGAA	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALB2_chr16_71353723_71395433	71382139	A A	AGAAGGAA others(27): Show AGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(88): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp2 HG02258.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA18985.hp2 NA18992.hp2 NA18997.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(61): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0206 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0019 a0001c0001t0002g0163 a0001c0001t0002g0184 a0002c0002t0001g0179	91	419	0.2172	34	c.343 others(49): Show c.343-561_343-560insGGAAGGAAGGAAAAGGAAGGAAGGAAGGAA AGAA	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18984.hp1 NA18906.hp2 NA18984.hp1	a0002 a0003 a0002 a0003	a0002c0006 a0003c0002 a0002c0006 a0003c0002	a0002c0006t0015 a0003c0002t0001 a0002c0006t0015 a0003c0002t0001	a0002c0006t0015g0012 a0003c0002t0001g0193 a0002c0006t0015g0012 a0003c0002t0001g0193	2	34	0.0588	34	c.912 others(51): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0071 a0003c0002t0001g0071	1	33	0.0303	34	c.912 others(51): Show c.912+1385_912+1386insATATATATATATATATATATATTTTTTT TTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48867569	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAACACACACACAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0076 a0004c0004t0012g0076	1	276	0.0036	34	c.45 others(45): Show c.4564_*4565insAAAAAAAAAAAAAAAAAAAACACACACACAAAAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding		2325		chr17	TogoVar
CALCR_chr7_93419486_93579724	93460575	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0272 a0001c0001t0011g0272	1	290	0.0034	34	c.648 others(49): Show c.648+245_648+246insCACATATATATATATATATATATATATATA TATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93554769	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG02451.hp1 others(6): Show HG00741.hp2 HG01168.hp1 HG02451.hp1 HG03710.hp2 NA18960.hp1 NA18964.hp1 NA18984.hp1 NA18991.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0103 a0001c0001t0003g0079 a0001c0001t0003g0102 others(6): Show a0001c0001t0001g0103 a0001c0001t0003g0079 a0001c0001t0003g0102 a0001c0001t0003g0127 a0001c0001t0004g0117 a0001c0001t0010g0136 a0002c0002t0001g0130 a0002c0002t0001g0251 a0002c0004t0001g0286	9	63	0.1429	34	c.-27 others(53): Show c.-27+19519_-27+19520insTATATATATATATATATATATATATA TATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALM2_chr2_47155084_47181511	47167693	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	48	0.0208	34	c.34+ others(49): Show c.34+3007_34+3040dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01358.hp2 HG02486.hp2 others(3): Show HG00621.hp2 HG01358.hp2 HG02486.hp2 HG02976.hp1 HG04199.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0072 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0091	6	67	0.0896	34	c.34+ others(49): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALML3_chr10_5519961_5531771	5521223	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02015.hp2 HG04204.hp1 others(1): Show HG00558.hp1 HG02015.hp2 HG04204.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0001t0001g0000 a0001c0002t0002g0000	4	235	0.0170	34	c.-38 others(45): Show c.-3863_-3862insTATATATATATATATATATATATATATATATATA	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3737		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521223	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	232	0.0043	34	c.-38 others(45): Show c.-3863_-3862insTGTATATATATATATATATATATATATATATATA	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3737		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01346.hp2 NA18952.hp2 others(3): Show HG01167.hp2 HG01346.hp2 NA18952.hp2 NA18984.hp2 NA18998.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0001t0001 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0002t0002g0000 a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0002t0002g0000	6	331	0.0181	34	c.-38 others(45): Show c.-3847_-3846insTATATATATATATATATATATATATATATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18973.hp2 NA18994.hp1 others(1): Show NA18952.hp1 NA18973.hp2 NA18994.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	329	0.0122	34	c.-38 others(45): Show c.-3847_-3846insTATATATATATATATATATATATATATATGTATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521241	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	366	0.0027	34	c.-38 others(45): Show c.-3845_-3844insTATATATATATATATATATATATATATATATGTG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3719		chr10	TogoVar
CALN1_chr7_71774491_72417338	71806262	A A	ACACGCAC others(27): Show ACACGCACACACACAAACAAACAAACACACACATG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0030 a0001c0001t0039g0030	1	83	0.0120	34	c.658 others(51): Show c.658+4073_658+4074insCATGTGTGTGTTTGTTTGTTTGTGTGTG TGCGTG	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72016998	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0093 a0001c0001t0020g0093	1	69	0.0145	34	c.501 others(51): Show c.501+6658_501+6659insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72054528	C C	CATATATA others(27): Show CATATATATACATATATATACATATATATACATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA19240.hp2 HG01433.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0039 a0001c0001t0008 a0001c0001t0039	a0001c0001t0008g0027 a0001c0001t0039g0030 a0001c0001t0008g0027 a0001c0001t0039g0030	2	139	0.0144	34	c.389 others(53): Show c.389-30760_389-30759insATATGTATATATATGTATATATATGT ATATATAT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72081417	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02630.hp2 HG02896.hp2 others(3): Show HG01255.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG03139.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0021 others(2): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0021 a0001c0001t0052 a0001c0001t0056	a0001c0001t0004g0081 a0001c0001t0004g0088 a0001c0001t0013g0117 others(3): Show a0001c0001t0004g0081 a0001c0001t0004g0088 a0001c0001t0013g0117 a0001c0001t0021g0083 a0001c0001t0052g0133 a0001c0001t0056g0137	6	35	0.1714	34	c.388 others(53): Show c.388+24733_388+24734insGACACACACACACACACACACACACA CACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAAATATA others(27): Show AAAATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	52	0.0192	34	c.244 others(53): Show c.244+73134_244+73135insATATATATATATATATATATATATGT ATATATTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	14	0.0714	34	c.244 others(51): Show c.244+7110_244+7111insATATATATATATATTTTTTTTTTTTTTT TTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72314418	C C	CACATATA others(27): Show CACATATATATACATATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01346.hp1 HG02129.hp2 others(1): Show HG00438.hp1 HG01346.hp1 HG02129.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0044 a0001c0001t0001 a0001c0001t0005 a0001c0001t0044	a0001c0001t0001g0047 a0001c0001t0001g0110 a0001c0001t0005g0009 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0110 a0001c0001t0005g0009 a0001c0001t0044g0098	4	109	0.0367	34	c.120 others(53): Show c.120-35609_120-35608insATATATATATGTGTATATATATGTAT ATATATGT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALY_chr10_133319072_133341896	133329392	C C	CTTCTTCT others(27): Show CTTCTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0164 a0001c0001t0009g0164	1	108	0.0093	34	c.-20 others(49): Show c.-20-384_-20-383insAAAAAAAAAAAAAAAAAAAAAAGAAGAAGA AGAA	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12547682	T T	TCTCTCTC others(27): Show TCTCTCTCTCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02559.hp2 others(4): Show HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02922.hp2 HG03209.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0013 a0001c0001t0035 others(4): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0035 a0001c0001t0102 a0001c0002t0010 a0001c0002t0025 a0001c0002t0026	a0001c0001t0002g0032 a0001c0001t0013g0107 a0001c0001t0035g0106 others(4): Show a0001c0001t0002g0032 a0001c0001t0013g0107 a0001c0001t0035g0106 a0001c0001t0102g0010 a0001c0002t0010g0007 a0001c0002t0025g0146 a0001c0002t0026g0165	7	95	0.0737	34	c.93- others(49): Show c.93-5542_93-5541insTCTCTCTCACACACACACACACACACACAC ACAC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12547682	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0009	1	89	0.0112	34	c.93- others(49): Show c.93-5542_93-5541insTCTCTCTCTCACACACACACACACACACAC ACAC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12595342	G G	GAAAAAAA others(27): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	56	0.0179	34	c.224 others(53): Show c.224+42008_224+42009insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12694365	T T	TATATATA others(27): Show TATATATAAAATATAAAATATATATGTTATATATC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02280.hp1 HG02559.hp2 others(4): Show HG02083.hp1 HG02280.hp1 HG02559.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0039 a0001c0001t0091 a0001c0001t0102 a0001c0002t0010	a0001c0001t0002g0032 a0001c0001t0006g0177 a0001c0001t0011g0017 others(4): Show a0001c0001t0002g0032 a0001c0001t0006g0177 a0001c0001t0011g0017 a0001c0001t0039g0157 a0001c0001t0091g0030 a0001c0001t0102g0010 a0001c0002t0010g0079	7	114	0.0614	34	c.299 others(53): Show c.299+27603_299+27636dupAAAATATATATGTTATATATCATATA TAAAATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227713	G G	GGGTGTGG others(27): Show GGGTGTGGGGGACAGAGGGGGTGTGGAAGACAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0088 a0001c0002t0004g0088	1	240	0.0042	34	c.146 others(53): Show c.1469-1070_1469-1069insTCCTGTCTTCCACACCCCCTCTGTCC CCCACACC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(27): Show GATATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0186 a0001c0001t0029g0186	1	53	0.0189	34	c.161 others(53): Show c.161-47975_161-47974insATATATATATATATATATATATATAT GTATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02970.hp1 NA18963.hp2 others(1): Show HG02897.hp1 HG02970.hp1 NA18963.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0044	a0001c0001t0002g0250 a0001c0001t0006g0261 a0001c0001t0009g0236 others(1): Show a0001c0001t0002g0250 a0001c0001t0006g0261 a0001c0001t0009g0236 a0001c0001t0044g0038	4	56	0.0714	34	c.161 others(53): Show c.161-48008_161-47975dupATATATATATATATATATATATATAT ATATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113765389	T T	TAAAAGAA others(27): Show TAAAAGAATTGCAGTAGGAAGGTACATTAAATAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0092 a0001c0001t0013g0092	1	276	0.0036	34	c.-43 others(45): Show c.-4322_-4321insCTTATTTAATGTACCTTCCTACTGCAATTCTTTT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding		3652		chr4	TogoVar
CAMKK2_chr12_121232692_121301709	121268083	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG03225.hp1 others(1): Show HG01515.hp1 HG01517.hp2 HG03225.hp1 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0002t0003 a0002c0006t0004 a0002c0002t0001 a0002c0002t0003 a0002c0006t0004	a0002c0002t0001g0309 a0002c0002t0003g0001 a0002c0006t0004g0287 a0002c0002t0001g0309 a0002c0002t0003g0001 a0002c0006t0004g0287	4	149	0.0268	34	c.625 others(49): Show c.625+554_625+555insATATATATATATATATATATATATATATAT ATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44410231	G G	GTATATAT others(27): Show GTATATATATATAGTCTATAGACTATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03831.hp1 NA18952.hp1 others(1): Show HG03098.hp2 HG03831.hp1 NA18952.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0056 a0001c0001t0001g0088 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0003g0030	4	101	0.0396	34	c.376 others(53): Show c.376+19938_376+19939insGTCTATAGACTATATATATATATATA TATATATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44410231	G G	GTATATAT others(27): Show GTATATATATATAGTCTATAGGCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 HG02976.hp1 HG01884.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0108 a0001c0001t0002g0109 a0001c0002t0002g0028 a0001c0001t0001g0108 a0001c0001t0002g0109 a0001c0002t0002g0028	3	100	0.0300	34	c.376 others(53): Show c.376+19938_376+19939insGTCTATAGGCTATATATATATATATA TATATATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44410247	A A	AGACTATA others(27): Show AGACTATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	105	0.0095	34	c.376 others(53): Show c.376+19942_376+19943insGACTATATATATATATATATATATAT ATATTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200817191	T T	TATAAGTG others(27): Show TATAAGTGTGTGTGTATACACACACACACATATAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	33	0.0303	34	c.645 others(51): Show c.645+1547_645+1548insATAAGTGTGTGTGTATACACACACACAC ATATAA	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16			chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	13	0.0769	34	c.438 others(53): Show c.438+26678_438+26679insATATATATATATATATATATATATAT TTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0043 a0001c0015t0006g0043	1	13	0.0769	34	c.438 others(53): Show c.438+26678_438+26679insATATATATATATATATATATATATTT TTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	13	0.0769	34	c.438 others(53): Show c.438+26678_438+26679insATATATATATATATATATATATTTTT TTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP2_chr6_17388595_17562780	17500340	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	17	0.0588	34	c.301 others(51): Show c.301-6818_301-6785dupATATATATATATATATATATATATATAT ATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPRIN1_chr11_34046731_34107610	34103735	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	43	0.0233	34	c.43 others(45): Show c.4368_*4369insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding		1126		chr11	TogoVar
CAPS2_chr12_75270979_75335324	75274085	A A	ACCATTTC others(27): Show ACCATTTCAGTATTTTATATTAAAATACTGTCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18612.hp1 NA18972.hp2 others(2): Show NA18522.hp2 NA18612.hp1 NA18972.hp2 NA19075.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 a0002c0002t0001	a0001c0001t0001g0120 a0001c0001t0004g0223 a0001c0001t0027g0060 others(2): Show a0001c0001t0001g0120 a0001c0001t0004g0223 a0001c0001t0027g0060 a0002c0002t0001g0006 a0002c0002t0001g0199	5	362	0.0138	34	c.48 others(45): Show c.4804_*4805insAATGACAGTATTTTAATATAAAATACTGAAATGG	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding		1893		chr12	TogoVar
CAPZA2_chr7_116857587_116927049	116904969	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0326 a0001c0002t0016g0326	1	222	0.0045	34	c.426 others(49): Show c.426+606_426+607insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar

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