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
C18orf63_chr18_74310839_74364189	74361802	A A	AATTTATA others(38): Show AATTTATAATTATATATTTACATATAATTTATAATTATATATTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01981.hp1 HG01496.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0002 a0001c0001t0032g0052 a0001c0001t0001g0002 a0001c0001t0032g0052	2	345	0.0058	45	c.53 others(56): Show c.5355_*5356insATTTATAATTATATATTTACATATAATTTATAAT TATATATTTAC	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2614		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74361832	A A	AATTTATA others(38): Show AATTTATAATTATATATTTACATATAATTTATAATTATATATTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	268	0.0037	45	c.53 others(56): Show c.5385_*5386insATTTATAATTATATATTTACATATAATTTATAAT TATATATTTAC	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2644		chr18	TogoVar
C1GALT1C1_chrX_120620674_120635054	120632168	T T	TAAAATAA others(38): Show TAAAATAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	284	0.0035	45	c.-22 others(56): Show c.-2258_-2257insTTTTATTATTTTATTTTATTTTATTTTATTTTAT TTTATTATTTT	C1GALT1C1	ENSG00000171155.8	transcript	ENST00000304661.6	protein_coding		2115		chrX	TogoVar
C1QTNF12_chr1_1237453_1251722	1240648	T T	TCATTCAC others(38): Show TCATTCACCCCGGCCGTGGTCCCTGCCCCAGCCCCCCGCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	82	0.0122	45	c.18 others(56): Show c.1899_*1900insGGGGGCGGCGGGGGGCTGGGGCAGGGACCACGGC CGGGGTGAATG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		1804		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1244797	T T	TCCCCCAC others(38): Show TCCCCCACTCCTCATCCCACTCCTTCCCCCACTCATCTCCCTCCTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	321	0.0031	45	c.178 others(60): Show c.178-345_178-301dupGAGGAGGGAGATGAGTGGGGGAAGGAGTGG GATGAGGAGTGGGGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C22orf42_chr22_32144006_32164303	32146145	A A	ATAATATA others(38): Show ATAATATATATTATATTATTATATAATATAACATATTATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp1 others(8): Show HG00099.hp1 HG00323.hp2 HG00639.hp1 HG00738.hp2 HG01952.hp1 HG01981.hp2 HG02486.hp2 HG02735.hp1 HG03834.hp2 HG04199.hp2 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0026 a0002c0004t0003g0047 others(1): Show a0002c0004t0003g0008 a0002c0004t0003g0026 a0002c0004t0003g0047 a0002c0004t0003g0048	11	395	0.0278	45	c.33 others(56): Show c.3394_*3395insATAATATATAATATGTTATATTATATAATAATAT AATATATATTA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2860		chr22	TogoVar
C2orf69_chr2_199906293_199933273	199913420	T T	TATAATAT others(38): Show TATAATATATTCTATTATGATATATAATATATAATAACATATATTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00621.hp2 others(34): Show HG00323.hp1 HG00408.hp1 HG00621.hp2 HG01109.hp2 HG01168.hp2 HG01256.hp1 HG01346.hp1 HG01884.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02083.hp1 HG02135.hp1 HG02523.hp1 HG02735.hp1 HG02976.hp2 HG03209.hp1 HG03492.hp1 HG03834.hp1 NA18941.hp2 NA18961.hp2 NA18971.hp2 NA18978.hp1 NA18980.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0006c0006t0001	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0026 others(23): Show a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0005g0059 a0001c0001t0008g0025 a0001c0001t0008g0151 a0001c0001t0012g0061 a0001c0001t0013g0212 a0001c0001t0013g0213 a0006c0006t0001g0060	37	406	0.0911	45	c.333 others(62): Show c.333+1649_333+1650insATAATATATTCTATTATGATATATAATA TATAATAACATATATTA	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1			chr2	TogoVar
C3orf70_chr3_185071838_185158060	185134125	A A	ATATATAT others(38): Show ATATATATATATATATATATATATTATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0360 a0001c0001t0089g0360	1	371	0.0027	45	c.196 others(64): Show c.196+18502_196+18503insAATATATATATATATATATATAATAT ATATATATATATATATATA	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C4BPB_chr1_207083860_207104993	207085624	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	385	0.0026	45	c.-33 others(56): Show c.-3373_-3372insTATATATATATATATATATATATATATATATATA TATATATATAT	C4BPB	ENSG00000123843.13	transcript	ENST00000367078.8	protein_coding		3235		chr1	TogoVar
C4orf50_chr4_5954375_6023431	6004089	A A	ATGATGGT others(38): Show ATGATGGTGATGATGGTGATGGTGATGATGGTGATAGTGATGATGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0107 a0107	a0107c0117 a0107c0117	a0107c0117t0001 a0107c0117t0001	a0107c0117t0001g0019 a0107c0117t0001g0019	1	344	0.0029	45	c.963 others(62): Show c.963+3862_963+3906dupCCATCATCACTATCACCATCATCACCAT CACCATCATCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C7orf50_chr7_992006_1143247	1016422	C C	CCAGCGCA others(38): Show CCAGCGCACGCCAGCGCACAGCAGCACAGCAGCGCACGCCAGCGCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	260	0.0038	45	c.130 others(62): Show c.130-6280_130-6279insTGCGCTGGCGTGCGCTGCTGTGCTGCTG TGCGCTGGCGTGCGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016422	C C	CCAGCGCA others(38): Show CCAGCGCATGCCAGCGCACAGCAGCACAGCAGCGCACGCCAGCGCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp2 others(44): Show HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01255.hp1 HG01361.hp2 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp1 HG02080.hp2 HG02273.hp2 HG02300.hp1 HG02965.hp2 HG03486.hp2 HG04204.hp2 NA18940.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19079.hp2 NA19082.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0004 a0001c0001 a0007c0004	a0001c0001t0002 a0001c0001t0013 a0001c0001t0025 others(4): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0007c0004t0002	a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 others(44): Show a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0298 a0001c0001t0002g0315 a0001c0001t0013g0010 a0001c0001t0013g0012 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0025g0163 a0001c0001t0027g0193 a0001c0001t0029g0225 a0001c0001t0030g0326 a0007c0004t0002g0235	47	306	0.1536	45	c.130 others(62): Show c.130-6280_130-6279insTGCGCTGGCGTGCGCTGCTGTGCTGCTG TGCGCTGGCATGCGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016422	C C	CCAGCGCA others(38): Show CCAGCGCATGCCAGTGCACAGCAGCACAGCAGCGCACGCCAGCGCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show HG01243.hp1 HG02572.hp1 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0005g0250 others(1): Show a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0005g0250 a0001c0001t0005g0287	4	263	0.0152	45	c.130 others(62): Show c.130-6280_130-6279insTGCGCTGGCGTGCGCTGCTGTGCTGCTG TGCACTGGCATGCGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1133011	C C	CAAGCGGT others(38): Show CAAGCGGTGGAAACAACCTCCGTGTCTGTGCATCCATGGACGAAGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0201 a0001c0001t0028g0201	1	324	0.0031	45	c.-2+ others(60): Show c.-2+4259_-2+4303dupCCTTCGTCCATGGATGCACAGACACGGAGG TTGTTTCCACCGCTT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68504304	G G	GTATGCCA others(38): Show GTATGCCACATTTTCTTATTCATCAGTTGACGGATCTTTGAGTTGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0034 a0002c0003t0001g0034	1	126	0.0079	45	c.765 others(64): Show c.765+16255_765+16299dupATGCCACATTTTCTTATTCATCAGTT GACGGATCTTTGAGTTGTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531241	A A	AGCGAGCA others(38): Show AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 NA18960.hp2 NA18998.hp2 HG01981.hp2 NA18960.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0006	3	385	0.0078	45	c.-23 others(56): Show c.-2326_-2325insCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCAC CTGCTGCTCGC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2131		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531831	A A	AGCGAGCA others(38): Show AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	396	0.0025	45	c.-29 others(56): Show c.-2916_-2915insCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCAC CTGCTGCTCGC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2721		chr8	TogoVar
C9orf152_chr9_110194561_110213159	110209892	A A	AAAGAGAA others(38): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0158 a0001c0001t0047g0158	1	62	0.0161	45	c.-23 others(56): Show c.-2314_-2313insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTCTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1734		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209936	A A	AGAAGAGA others(38): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0051 a0001c0002t0022g0051	1	458	0.0022	45	c.-23 others(56): Show c.-2358_-2357insGCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTC	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1778		chr9	TogoVar
CA10_chr17_51625320_52163714	51839504	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAGCAAGACTCCTTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp1 NA19240.hp1 HG01081.hp2 HG02258.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0002g0050 a0001c0001t0004g0009 a0001c0003t0001g0010 a0001c0001t0002g0050 a0001c0001t0004g0009 a0001c0003t0001g0010	3	154	0.0195	45	c.279 others(64): Show c.279+91485_279+91486insGAGAAGGAGTCTTGCTTCCTTTTTTT TTTTTTTTTTTTTTTTTTT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(38): Show GATATATATATATATATATATGCTAGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp1 HG02622.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0284 a0001c0001t0001g0065 a0001c0001t0001g0284	2	164	0.0122	45	c.565 others(62): Show c.565-1863_565-1862insATATATATATATATATATATCTAGCATA TATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CABLES2_chr20_62383634_62412285	62398288	A A	ATGGTGGC others(38): Show ATGGTGGCGATGGTGATGACGGTGGTGATGGCAGTGGTGGTGACGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0207 a0001c0001t0018g0207	1	397	0.0025	45	c.363 others(62): Show c.363-1697_363-1696insCCGTCACCACCACTGCCATCACCACCGT CATCACCATCGCCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398320	A A	AGTGGTGG others(38): Show AGTGGTGGTGACGGTGGTGGTGATGGTGATGACGGTGGTGATGGCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02615.hp1 others(2): Show HG02257.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp2 HG03139.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0003 a0001c0001t0005 a0005c0009t0023 a0001c0001t0003 a0001c0001t0005 a0005c0009t0023	a0001c0001t0003g0046 a0001c0001t0003g0171 a0001c0001t0005g0163 others(1): Show a0001c0001t0003g0046 a0001c0001t0003g0171 a0001c0001t0005g0163 a0005c0009t0023g0060	5	378	0.0132	45	c.363 others(62): Show c.363-1729_363-1728insCGCCATCACCACCGTCATCACCATCACC ACCACCGTCACCACCAC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398333	A A	ATGGTGGT others(38): Show ATGGTGGTGATGGTGATGACGGTGGTGATGGCGGTGGTGGTGACGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0132	1	223	0.0045	45	c.363 others(62): Show c.363-1742_363-1741insCCGTCACCACCACCGCCATCACCACCGT CATCACCATCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(38): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01978.hp2 HG02300.hp2 HG00738.hp2 HG01978.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	3	336	0.0089	45	c.121 others(60): Show c.121+298_121+299insGGCGGCGGGGGCGGGGGGGGGGCGGGGGGG CGGCGGGGGCGGGGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2275767	A A	AGGAAACC others(38): Show AGGAAACCATCGTTAGGGCACGGAAGCATAGGTGGGAGAAGACAGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03486.hp2 HG02922.hp2 HG03486.hp2	a0001 a0001	a0001c0033 a0001c0036 a0001c0033 a0001c0036	a0001c0033t0020 a0001c0036t0007 a0001c0033t0020 a0001c0036t0007	a0001c0033t0020g0075 a0001c0036t0007g0100 a0001c0033t0020g0075 a0001c0036t0007g0100	2	104	0.0192	45	c.477 others(66): Show c.477+155337_477+155338insGGAAACCATCGTTAGGGCACGGAA GCATAGGTGGGAGAAGACAGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46			chr12	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(38): Show AATATATATATATATATATTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0192 a0003c0003t0005g0192	1	125	0.0080	45	c.620 others(62): Show c.6208+741_6208+742insTATATATATATATATATATATATATATA TATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1I_chr22_39565753_39694735	39596464	C C	CGGAGGGA others(38): Show CGGAGGGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0135 a0001c0009t0007g0135	1	228	0.0044	45	c.237 others(62): Show c.237-1683_237-1682insGGAGATGGGGGGGCAGGGCGGAGGGAGA TGGGGGGCAGGGTGGAG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNB1_chr17_39168453_39202669	39183337	A A	AAAGAAGA others(38): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18979.hp1 NA18967.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0086 a0001c0002t0006g0217 a0001c0002t0006g0086 a0001c0002t0006g0217	2	355	0.0056	45	c.105 others(62): Show c.1050+375_1050+376insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	CACNB1	ENSG00000067191.17	transcript	ENST00000394303.8	protein_coding	11/13			chr17	TogoVar
CACNB2_chr10_18135424_18548557	18181562	T T	TTTTTATT others(38): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	33	0.0303	45	c.213 others(64): Show c.213+30612_213+30656dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(38): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0125 a0001c0001t0066g0125	1	139	0.0072	45	c.-11 others(56): Show c.-1185_-1184insAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(38): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0140 a0001c0001t0008g0140	1	139	0.0072	45	c.-11 others(56): Show c.-1185_-1184insAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(38): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02572.hp1 HG03834.hp1 HG02004.hp1 HG02572.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0095 a0001c0001t0005 a0001c0001t0095	a0001c0001t0005g0120 a0001c0001t0005g0126 a0001c0001t0095g0199 a0001c0001t0005g0120 a0001c0001t0005g0126 a0001c0001t0095g0199	3	46	0.0652	45	c.-36 others(56): Show c.-3651_-3650insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2475		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706233	T T	TCTTCTTC others(38): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG03491.hp2 HG02027.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0078 a0001c0001t0024 a0001c0001t0078	a0001c0001t0024g0164 a0001c0001t0078g0159 a0001c0001t0024g0164 a0001c0001t0078g0159	2	178	0.0112	45	c.-36 others(56): Show c.-3658_-3657insGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2482		chr22	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18947.hp1 HG02083.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0066 a0001c0001t0009g0071 a0001c0001t0006g0066 a0001c0001t0009g0071	2	174	0.0115	45	c.545 others(60): Show c.545-745_545-744insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG02630.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0233 a0001c0001t0007g0236 a0001c0001t0003g0233 a0001c0001t0007g0236	2	174	0.0115	45	c.545 others(60): Show c.545-745_545-744insAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906078	C C	CCTTCTTC others(38): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03130.hp1 HG02451.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0072 a0001c0001t0007g0075 a0001c0001t0007g0072 a0001c0001t0007g0075	2	319	0.0063	45	c.-34 others(56): Show c.-3469_-3468insCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3199		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(38): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	1	124	0.0081	45	c.-34 others(56): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTC TTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(38): Show CCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	124	0.0081	45	c.-34 others(56): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTC TTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(38): Show CCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	124	0.0081	45	c.-34 others(56): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTC TTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(38): Show CCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	124	0.0081	45	c.-34 others(56): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTTC others(38): Show CCTCCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	124	0.0081	45	c.-34 others(56): Show c.-3463_-3462insCTCCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTC TTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0207 a0003c0002t0001g0207	1	33	0.0303	45	c.912 others(62): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATATTTTTTTT	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(38): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0173 a0003c0002t0004g0173	1	33	0.0303	45	c.912 others(62): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	AAATAGAA others(38): Show AAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	62	0.0161	45	c.100 others(64): Show c.1008+1887_1008+1888insAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALN1_chr7_71774491_72417338	71847743	G G	GAAGAAAG others(38): Show GAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAGAAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	118	0.0085	45	c.502 others(64): Show c.502-37252_502-37251insTCTTCTTCTTTCTTCTTCTTTCTTCT TTCTTCTTTCTTCTTTCTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72114243	T T	TGAAGGGA others(38): Show TGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0117 a0001c0001t0013g0117	1	49	0.0204	45	c.245 others(62): Show c.245-7994_245-7950dupCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12387445	T T	TTATATAT others(38): Show TTATATATTTTATATATTATATATATTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02559.hp1 HG01069.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0045 a0001c0001t0013g0155 a0001c0001t0003g0045 a0001c0001t0013g0155	2	72	0.0278	45	c.92+ others(62): Show c.92+37542_92+37543insTTTATATATTATATATATTTTATATATA TATATATATATATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44589118	C C	CGTCCGGG others(38): Show CGTCCGGGAGGGAGGCGCGAGGGGGGGGGGGTCGGCCAGCCGCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp1 others(7): Show HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02630.hp2 HG02970.hp1 HG03139.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0119 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169	10	196	0.0510	45	c.377 others(66): Show c.377-115162_377-115161insCGGGAGGGAGGCGCGAGGGGGGGG GGGTCGGCCAGCCGCCCTGTC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44589118	C C	CGTCCGGG others(38): Show CGTCCGGGAGGGAGGCGCGGGGGGGGGGGGGTCGGCCAGCCGCCCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	187	0.0053	45	c.377 others(66): Show c.377-115162_377-115161insCGGGAGGGAGGCGCGGGGGGGGGG GGGTCGGCCAGCCGCCCTGTC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar

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