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
C1RL_chr12_7089554_7114214	7100303	A A	AAATTTAA others(24): Show AAATTTAAAATGCAAATATTTTTTAAACCTAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0168 a0002c0002t0022g0168	1	436	0.0023	31	c.491 others(46): Show c.491-278_491-277insGTAGGTTTAAAAAATATTTGCATTTTAAAT T	C1RL	ENSG00000139178.12	transcript	ENST00000266542.9	protein_coding	3/5			chr12	TogoVar
C1orf159_chr1_1076823_1121089	1078985	A A	AGGCTGAG others(24): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	313	0.0032	31	c.39 others(42): Show c.3907_*3908insACCCCCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2837		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1079327	T T	TGGGGACT others(24): Show TGGGGACTCCGTGCCGGGAGGCTGAGGCTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0192 a0002c0003t0002g0192	1	324	0.0031	31	c.35 others(42): Show c.3565_*3566insCATAGCCTCAGCCTCCCGGCACGGAGTCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2495		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080695	C C	CCCTGTCT others(24): Show CCCTGTCTCCTTCCCTCCGCCCCCACCTCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	324	0.0031	31	c.21 others(42): Show c.2197_*2198insACCGAGGTGGGGGCGGAGGGAAGGAGACAGG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1127		chr1	TogoVar
C1orf162_chr1_111468984_111483512	111481158	T T	TGAGCCCC others(24): Show TGAGCCCCAAAATTTGAGACCAGTCTGGCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	474	0.0021	31	c.30 others(42): Show c.3035_*3036insGAGCCCCAAAATTTGAGACCAGTCTGGCATA	C1orf162	ENSG00000143110.12	transcript	ENST00000369718.4	protein_coding		2647		chr1	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01123.hp1 HG02015.hp2 others(16): Show HG01070.hp2 HG01123.hp1 HG02015.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02717.hp2 HG02735.hp1 HG03516.hp2 HG03831.hp2 HG04199.hp2 NA18951.hp1 NA18965.hp1 NA19060.hp1 NA19065.hp2 NA19081.hp1 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0001 a0002c0002t0009	a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0019 others(15): Show a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0028 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0126 a0002c0002t0001g0131 a0002c0002t0001g0145 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0180 a0002c0002t0001g0206 a0002c0002t0001g0292 a0002c0002t0009g0077 a0002c0002t0009g0078	19	189	0.1005	31	c.35 others(42): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0008	1	114	0.0088	31	c.16 others(42): Show c.1637_*1638insAAATATATATATATATATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0059 a0003c0003t0002g0059	1	114	0.0088	31	c.16 others(42): Show c.1637_*1638insAAAAAAAAAAAAAAAAATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(24): Show TTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0004 a0004c0016t0004	a0004c0016t0004g0135 a0004c0016t0004g0135	1	239	0.0042	31	c.280 others(48): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGGAG AGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(24): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03942.hp1 HG00735.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0316 a0001c0002t0002g0119 a0001c0001t0002g0316 a0001c0002t0002g0119	2	117	0.0171	31	c.280 others(48): Show c.280-4893_280-4892insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74139909	T T	TAATGTCC others(24): Show TAATGTCCCCCATTCCCTAGAGGATTGTAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02258.hp2 others(7): Show HG01884.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03486.hp2 NA19043.hp1	a0003 a0006 a0033 a0003 a0006 a0033	a0003c0034 a0006c0008 a0006c0012 others(1): Show a0003c0034 a0006c0008 a0006c0012 a0033c0035	a0003c0034t0001 a0006c0008t0001 a0006c0012t0001 others(1): Show a0003c0034t0001 a0006c0008t0001 a0006c0012t0001 a0033c0035t0001	a0003c0034t0001g0185 a0006c0008t0001g0229 a0006c0008t0001g0230 others(7): Show a0003c0034t0001g0185 a0006c0008t0001g0229 a0006c0008t0001g0230 a0006c0008t0001g0236 a0006c0008t0001g0237 a0006c0008t0001g0238 a0006c0008t0001g0239 a0006c0008t0001g0240 a0006c0012t0001g0235 a0033c0035t0001g0228	10	238	0.0420	31	c.484 others(44): Show c.484-82_484-81insCCTTACAATCCTCTAGGGAATGGGGGACATT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74139959	G G	GAGGATTG others(24): Show GAGGATTGTAAGGAATGTCCCCCATTCCCTAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03516.hp2 NA18522.hp2 others(1): Show HG02055.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp1	a0013 a0032 a0013 a0032	a0013c0013 a0032c0046 a0013c0013 a0032c0046	a0013c0013t0001 a0032c0046t0002 a0013c0013t0001 a0032c0046t0002	a0013c0013t0001g0225 a0013c0013t0001g0226 a0013c0013t0001g0227 others(1): Show a0013c0013t0001g0225 a0013c0013t0001g0226 a0013c0013t0001g0227 a0032c0046t0002g0309	4	218	0.0183	31	c.484 others(46): Show c.484-132_484-131insGTAGGGAATGGGGGACATTCCTTACAATCC T	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	400639	A A	AGGGGTCC others(24): Show AGGGGTCCCCAGGCCCACCCTCACTCTTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp2 HG02080.hp1 others(4): Show HG01981.hp1 HG01981.hp2 HG02080.hp1 HG02886.hp1 NA19043.hp1 NA19064.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0036 others(4): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0135 a0001c0001t0137	a0001c0001t0008g0016 a0001c0001t0015g0010 a0001c0001t0036g0086 others(4): Show a0001c0001t0008g0016 a0001c0001t0015g0010 a0001c0001t0036g0086 a0001c0001t0038g0099 a0001c0001t0042g0035 a0001c0001t0135g0108 a0001c0001t0137g0110	7	305	0.0230	31	c.64 others(42): Show c.6456_*6457insCTGGAAGAGTGAGGGTGGGCCTGGGGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4805		chr19	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(24): Show TGGGGGGGACAGGGTCCTGCCCTGAGGGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02071.hp1 HG02698.hp1 others(7): Show HG00673.hp1 HG02071.hp1 HG02698.hp1 HG04184.hp1 NA18960.hp2 NA18966.hp2 NA18995.hp1 NA19007.hp2 NA19070.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 others(6): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0020 a0001c0001t0035 a0001c0001t0109 a0001c0001t0115 a0001c0001t0117 a0001c0001t0120	a0001c0001t0007g0019 a0001c0001t0009g0011 a0001c0001t0014g0009 others(6): Show a0001c0001t0007g0019 a0001c0001t0009g0011 a0001c0001t0014g0009 a0001c0001t0020g0020 a0001c0001t0035g0081 a0001c0001t0109g0089 a0001c0001t0115g0094 a0001c0001t0117g0165 a0001c0001t0120g0097	10	174	0.0575	31	c.30 others(42): Show c.3065_*3066insTCACCCCTCAGGGCAGGACCCTGTCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
C2CD4C_chr19_400445_414147	404080	C C	CCCTGAGG others(24): Show CCCTGAGGGGTGTGGGGGGGACGGGGTCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0159 a0001c0001t0053g0159	1	299	0.0033	31	c.30 others(42): Show c.3015_*3016insACAGGACCCCGTCCCCCCCACACCCCTCAGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1364		chr19	TogoVar
C2CD4C_chr19_400445_414147	404188	G G	GGGGGGGA others(24): Show GGGGGGGACGGGTCCTGCCCTGAGGGGTCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	320	0.0031	31	c.29 others(42): Show c.2907_*2908insTCAGACCCCTCAGGGCAGGACCCGTCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1256		chr19	TogoVar
C2CD4C_chr19_400445_414147	404189	G G	GGGGGGGA others(24): Show GGGGGGGACGGGTCCTGCCCTGAGGGGTCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	217	0.0046	31	c.29 others(42): Show c.2906_*2907insTCAGACCCCTCAGGGCAGGACCCGTCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1255		chr19	TogoVar
C2CD4C_chr19_400445_414147	404284	G G	GGGGGGGA others(24): Show GGGGGGGACGGGTCCTGCCCCGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02965.hp1 others(2): Show HG01884.hp1 HG02145.hp2 HG02965.hp1 HG02965.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0012 a0001c0001t0112 a0001c0001t0125 others(2): Show a0001c0001t0012 a0001c0001t0112 a0001c0001t0125 a0001c0002t0067 a0001c0004t0004	a0001c0001t0012g0029 a0001c0001t0112g0092 a0001c0001t0125g0100 others(2): Show a0001c0001t0012g0029 a0001c0001t0112g0092 a0001c0001t0125g0100 a0001c0002t0067g0128 a0001c0004t0004g0004	5	305	0.0164	31	c.28 others(42): Show c.2811_*2812insTCACACCCCTCGGGGCAGGACCCGTCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1160		chr19	TogoVar
C2CD4C_chr19_400445_414147	404381	A A	AGGGGGTA others(24): Show AGGGGGTACGGGGTCCTGCCTTGAGGGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01943.hp2 HG01934.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0063 a0001c0001t0016 a0001c0002t0063	a0001c0001t0016g0014 a0001c0002t0063g0126 a0001c0001t0016g0014 a0001c0002t0063g0126	2	195	0.0103	31	c.27 others(42): Show c.2714_*2715insCACACCCCTCAAGGCAGGACCCCGTACCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1063		chr19	TogoVar
C2CD4C_chr19_400445_414147	404382	G G	GGGGGGGA others(24): Show GGGGGGGACGGGTCCTGCCCCGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01943.hp1 HG02622.hp2 others(4): Show HG01891.hp1 HG01943.hp1 HG02622.hp2 HG02895.hp1 HG02970.hp1 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0041 a0001c0001t0090 others(3): Show a0001c0001t0015 a0001c0001t0041 a0001c0001t0090 a0001c0001t0133 a0001c0002t0059 a0001c0002t0082	a0001c0001t0015g0010 a0001c0001t0041g0034 a0001c0001t0090g0049 others(3): Show a0001c0001t0015g0010 a0001c0001t0041g0034 a0001c0001t0090g0049 a0001c0001t0133g0106 a0001c0002t0059g0123 a0001c0002t0082g0055	7	308	0.0227	31	c.27 others(42): Show c.2713_*2714insTCACACCCCTCGGGGCAGGACCCGTCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1062		chr19	TogoVar
C2CD4C_chr19_400445_414147	404445	G G	GGGGGGAC others(24): Show GGGGGGACGGGGTCCTGCCCTGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0094 a0001c0001t0115g0094	1	270	0.0037	31	c.26 others(42): Show c.2650_*2651insTCACACCCCTCAGGGCAGGACCCCGTCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		999		chr19	TogoVar
C2CD4C_chr19_400445_414147	404765	G G	GAGGGGGG others(24): Show GAGGGGGGATGGGGTCCTGCCCTGAGGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0084 a0001c0001t0104g0084	1	279	0.0036	31	c.23 others(42): Show c.2330_*2331insACACCCCTCAGGGCAGGACCCCATCCCCCCT	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		679		chr19	TogoVar
C2CD4C_chr19_400445_414147	404833	G G	GGGGAACG others(24): Show GGGGAACGGGGTCCTGCCCTGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	293	0.0034	31	c.22 others(42): Show c.2262_*2263insTCCACACCCCTCAGGGCAGGACCCCGTTCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		611		chr19	TogoVar
C2CD4C_chr19_400445_414147	404833	G G	GGGGGACG others(24): Show GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp1 others(8): Show HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01167.hp2 HG01346.hp2 HG01358.hp2 HG02148.hp2 HG02273.hp2 HG02300.hp2 HG02970.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0001t0026 others(4): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0026 a0001c0001t0033 a0001c0001t0055 a0001c0002t0012 a0001c0002t0143	a0001c0001t0001g0001 a0001c0001t0016g0014 a0001c0001t0026g0028 others(4): Show a0001c0001t0001g0001 a0001c0001t0016g0014 a0001c0001t0026g0028 a0001c0001t0033g0040 a0001c0001t0055g0068 a0001c0002t0012g0025 a0001c0002t0143g0142	11	303	0.0363	31	c.22 others(42): Show c.2262_*2263insTCCACACCCCTCAGGGCAGGACCCCGTCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		611		chr19	TogoVar
C2CD4C_chr19_400445_414147	404899	G G	GGGGGACG others(24): Show GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0083 a0001c0001t0103g0083	1	286	0.0035	31	c.21 others(42): Show c.2196_*2197insTCCACACCCCTCAGGGCAGGACCCCGTCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		545		chr19	TogoVar
C2orf69_chr2_199906293_199933273	199917105	G G	GCTTGCAC others(24): Show GCTTGCACACTCTGAAGCACACTAGATCGCGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	410	0.0024	31	c.333 others(48): Show c.333+5334_333+5335insCTTGCACACTCTGAAGCACACTAGATCG CGT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1			chr2	TogoVar
C2orf72_chr2_231032523_231054719	231047635	C C	CCTGACAT others(24): Show CCTGACATCAAGTGGCATCCCATGTGCAGAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0106 a0001c0002t0018g0106	1	458	0.0022	31	c.61 others(40): Show c.614_*615insCTGACATCAAGTGGCATCCCATGTGCAGAAG	C2orf72	ENSG00000204128.6	transcript	ENST00000373640.5	protein_coding	3/3	615		chr2	TogoVar
C3orf70_chr3_185071838_185158060	185073970	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	125	0.0080	31	c.90 others(42): Show c.9036_*9037insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding		2867		chr3	TogoVar
C3orf70_chr3_185071838_185158060	185120033	A A	AAAAAAAA others(24): Show AAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03041.hp2 NA18522.hp2 HG00735.hp1 HG03041.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0020 a0003c0004t0016g0021 a0003c0004t0016g0342 a0003c0004t0016g0020 a0003c0004t0016g0021 a0003c0004t0016g0342	3	42	0.0714	31	c.196 others(50): Show c.196+32594_196+32595insCTTTCTTTTTTTTTCTTTTTCTTTTT TTTTT	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C3orf80_chr3_160220422_160233213	160223765	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	121	0.0083	31	c.-18 others(42): Show c.-1871_-1870insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C3orf80	ENSG00000180044.6	transcript	ENST00000326474.5	protein_coding		1656		chr3	TogoVar
C4BPA_chr1_207099233_207149972	207106493	G G	GCGGTGGT others(24): Show GCGGTGGTGCAATCTCTGCTCACTGCAAGCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00597.hp2 others(66): Show HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01168.hp1 HG01169.hp2 HG01257.hp1 HG01496.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02258.hp2 HG02451.hp1 HG02523.hp1 HG02622.hp1 HG02630.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18966.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18980.hp2 NA18988.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19006.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19065.hp1 NA19066.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0002c0003 a0005c0008	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0002c0002t0001 a0002c0003t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0004t0001g0010 a0001c0004t0001g0080 a0001c0006t0001g0035 a0001c0006t0001g0043 a0001c0006t0001g0079 a0002c0002t0001g0044 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0102 a0002c0003t0001g0011 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0077 a0002c0003t0001g0085 a0002c0003t0001g0087 a0002c0003t0001g0092 a0005c0008t0001g0046	69	340	0.2029	31	c.-26 others(48): Show c.-26+2066_-26+2096dupGTGGTGCAATCTCTGCTCACTGCAAGCT CCG	C4BPA	ENSG00000123838.11	transcript	ENST00000367070.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
C4orf19_chr4_37448925_37598510	37508683	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01934.hp1 others(3): Show HG01167.hp1 HG01169.hp2 HG01934.hp1 HG03654.hp1 HG03942.hp2 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0002c0002t0008	a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0006g0086 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0006g0086 a0001c0001t0012g0032 a0001c0001t0018g0010 a0002c0002t0008g0085	6	145	0.0414	31	c.-72 others(50): Show c.-72-49336_-72-49335insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0152 a0002c0002t0004g0152	1	173	0.0058	31	c.57 others(42): Show c.5736_*5737insTATATATATATATATATATATATATATATAT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596737	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	304	0.0033	31	c.57 others(42): Show c.5737_*5738insATATATATATATATATATATATATATATATA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3228		chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	55	0.0182	31	c.715 others(48): Show c.715-1621_715-1620insATATATATATATATATATATTTTTTTTT TTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C7_chr5_40904497_40989643	40978873	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0234 a0003c0003t0003g0234	1	113	0.0088	31	c.216 others(48): Show c.2166-828_2166-827insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1059883	G G	GTAGTGAG others(24): Show GTAGTGAGGCGGGTCCGTAGTGAGGCGGGTCT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18971.hp1 NA19005.hp2 others(1): Show NA18944.hp2 NA18971.hp1 NA19005.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0188 a0001c0001t0004g0189 others(1): Show a0001c0001t0004g0184 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190	4	298	0.0134	31	c.130 others(50): Show c.130-49741_130-49740insAGACCCGCCTCACTACGGACCCGCCT CACTA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1060034	G G	GTAGTGAA others(24): Show GTAGTGAAGCGGGTCCGTAGTGAGGCGGGTCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0005 a0009c0006t0005	a0009c0006t0005g0296 a0009c0006t0005g0296	1	186	0.0054	31	c.130 others(50): Show c.130-49892_130-49891insAGACCCGCCTCACTACGGACCCGCTT CACTA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051809	T T	TCCTTCCT others(24): Show TCCTTCCTTCCTTCCTTTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0035 a0002c0001t0002g0035	1	373	0.0027	31	c.606 others(46): Show c.606-891_606-890insCCTTCCTTCCTTCCTTTTCTCTTCTCTTCT C	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051821	T T	TCTCTTCT others(24): Show TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02083.hp1 HG00738.hp2 HG02083.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0002c0001t0002 a0001c0002t0004 a0002c0001t0002	a0001c0002t0004g0073 a0002c0001t0002g0113 a0001c0002t0004g0073 a0002c0001t0002g0113	2	304	0.0066	31	c.606 others(46): Show c.606-879_606-878insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT C	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68794506	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp2 HG03209.hp2 others(1): Show HG02965.hp1 HG02970.hp2 HG03209.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0002c0004t0001g0094	4	111	0.0360	31	c.154 others(50): Show c.1549+6970_1549+6971insATATATATATATATATATATATATAT ATACA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13			chr8	TogoVar
C9orf50_chr9_129607225_129626101	129618463	A A	AGGGTCTG others(24): Show AGGGTCTGAATAGAACTGAACTATGAATGTAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	408	0.0025	31	c.716 others(48): Show c.716+1026_716+1056dupATACATTCATAGTTCAGTTCTATTCAGA CCC	C9orf50	ENSG00000179058.8	transcript	ENST00000372478.5	protein_coding	3/6			chr9	TogoVar
CA5A_chr16_87883013_87941529	87937800	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	393	0.0025	31	c.-13 others(42): Show c.-1351_-1350insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1272		chr16	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp2 HG02055.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0273 a0001c0001t0001g0174 a0001c0001t0001g0273	2	168	0.0119	31	c.565 others(48): Show c.565-1883_565-1882insGATATATATATATATATATATATATATA TAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CABCOCO1_chr10_61657929_61771766	61680478	A A	ATATATAT others(24): Show ATATATATAACATATTATATGTTATATTATGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG01168.hp1 others(21): Show HG00323.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG02055.hp1 HG02486.hp1 HG02486.hp2 HG02647.hp2 HG02818.hp2 HG02896.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG04184.hp1 HG06807.hp2 NA18991.hp2 NA19068.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0004c0009	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0002t0006 a0001c0008t0002 a0004c0009t0008	a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0094 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0211 a0001c0001t0001g0253 a0001c0001t0001g0296 a0001c0001t0007g0262 a0001c0002t0002g0018 a0001c0002t0002g0024 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0006g0019 a0001c0002t0006g0020 a0001c0002t0006g0021 a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0006g0030 a0001c0008t0002g0025 a0004c0009t0008g0263	24	201	0.1194	31	c.165 others(46): Show c.165-619_165-589dupTATATGTTATATTATGTTATATATAACATA T	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61680478	A A	ATATATAT others(24): Show ATATATATAACATATTATGTGTTATATTATGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	178	0.0056	31	c.165 others(46): Show c.165-648_165-647insGTGTTATATTATGTTATATATAACATATTA T	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABP1_chr12_120635626_120672324	120671073	G G	GGGGGGGG others(24): Show GGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	416	0.0024	31	c.41 others(42): Show c.4173_*4174insGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGA	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		3750		chr12	TogoVar
CACNA1A_chr19_13201442_13511479	13336640	A A	AGAGAGAG others(24): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0116 a0014c0027t0001g0116	1	211	0.0047	31	c.979 others(46): Show c.979-732_979-731insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413881	G G	GAAAAGAA others(24): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0135 a0001c0005t0001g0135	1	199	0.0050	31	c.539 others(50): Show c.539+38994_539+38995insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13464543	A A	ATTGTTTT others(24): Show ATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0005 a0005	a0005c0102 a0005c0102	a0005c0102t0002 a0005c0102t0002	a0005c0102t0002g0122 a0005c0102t0002g0122	1	105	0.0095	31	c.294 others(48): Show c.294-9332_294-9331insAAAAAAAAAAAAAAAAAAAAAAAAAAAA CAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar

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