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
CFAP46_chr10_132803392_132947570	132887447	T T	TCTCTCTC others(26): Show TCTCTCTCCTCTCCCCTCTTCTCTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19066.hp1 NA19060.hp1 NA19066.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0058 a0003c0007t0002g0062 a0003c0007t0002g0058 a0003c0007t0002g0062	2	244	0.0082	33	c.330 others(52): Show c.3305-1521_3305-1489dupGAGAGGAGAGAGAGAAGAGGGGAGAG GAGAGAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCTGAGG others(26): Show CCCTGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02148.hp1 HG02451.hp2 HG00544.hp1 HG02148.hp1 HG02451.hp2	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0002 a0005c0039 a0011c0010 a0002c0002 a0005c0039 a0011c0010	a0002c0002t0001 a0005c0039t0001 a0011c0010t0001 a0002c0002t0001 a0005c0039t0001 a0011c0010t0001	a0002c0002t0001g0137 a0005c0039t0001g0139 a0011c0010t0001g0187 a0002c0002t0001g0137 a0005c0039t0001g0139 a0011c0010t0001g0187	3	173	0.0173	33	c.212 others(50): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914127	C C	CCCCGAGG others(26): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01175.hp1 HG01257.hp1 HG00597.hp1 HG01175.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0080 a0001c0001t0002g0087 a0001c0001t0002g0039 a0001c0001t0002g0080 a0001c0001t0002g0087	3	123	0.0244	33	c.212 others(50): Show c.2121-902_2121-870dupCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914193	G G	GCCCGAGG others(26): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0146 a0009c0018t0001g0146	1	239	0.0042	33	c.212 others(50): Show c.2121-936_2121-935insGCGGGGTGCAGTGTGGCTGGACACAGCC TCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914622	G G	GCCCGAGG others(26): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	242	0.0041	33	c.212 others(52): Show c.2121-1365_2121-1364insGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914754	G G	GCCCGAGG others(26): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0206 a0005c0006t0001g0206	1	241	0.0041	33	c.212 others(52): Show c.2121-1497_2121-1496insGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132917895	G G	GGACGCAC others(26): Show GGACGCACCTCAGCACCGATGAACCCCCCTCCAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0014 a0012c0025t0002g0014	1	242	0.0041	33	c.198 others(50): Show c.1986+497_1986+498insATGGAGGGGGGTTCATCGGTGCTGAGGT GCGTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132924172	T T	TCCTGCCT others(26): Show TCCTGCCTGCCATGGTCCACCCTGATGCCTGCCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0012 a0012	a0012c0076 a0012c0076	a0012c0076t0001 a0012c0076t0001	a0012c0076t0001g0131 a0012c0076t0001g0131	1	243	0.0041	33	c.125 others(50): Show c.1256+491_1256+523dupCGGCAGGCATCAGGGTGGACCATGGCAG GCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(26): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	78	0.0128	33	c.117 others(52): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA AGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631055	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	308	0.0032	33	c.117 others(52): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAG	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13			chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	51	0.0196	33	c.131 others(52): Show c.1316+1273_1316+1274insATATATATATATATATATATATATTT TTTTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01258.hp2 others(1): Show HG01109.hp1 HG01257.hp2 HG01258.hp2 NA19001.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0202 a0003c0003t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0202 a0003c0003t0001g0007	4	54	0.0741	33	c.131 others(52): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT ATTTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP61_chr20_20047532_20365698	20296320	T T	TTCCTTCC others(26): Show TTCCTTCCCTTGCTTCCTTGCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0054 a0001c0023t0003g0054	1	182	0.0055	33	c.321 others(52): Show c.3217-1851_3217-1850insGCTTCCTTGCTTCCTTCCTTCCCTCC TTCCCTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP70_chr10_73248762_73363864	73362980	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0011 a0003c0003t0002g0011	1	126	0.0079	33	c.-42 others(44): Show c.-4243_-4242insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding		4117		chr10	TogoVar
CFAP74_chr1_1916957_2008786	1928109	A A	AGGCAAAC others(26): Show AGGCAAACCCCTGGGAGGAAGCCAGGCCGGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp1 HG03486.hp1 HG00099.hp1 HG01243.hp1 HG03486.hp1	a0001 a0023 a0036 a0001 a0023 a0036	a0001c0003 a0023c0040 a0036c0045 a0001c0003 a0023c0040 a0036c0045	a0001c0003t0001 a0023c0040t0001 a0036c0045t0001 a0001c0003t0001 a0023c0040t0001 a0036c0045t0001	a0001c0003t0001g0220 a0023c0040t0001g0134 a0036c0045t0001g0034 a0001c0003t0001g0220 a0023c0040t0001g0134 a0036c0045t0001g0034	3	256	0.0117	33	c.338 others(50): Show c.3388-364_3388-363insCTTCCCGGCCTGGCTTCCTCCCAGGGGT TTGCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1928251	T T	TTGGGAGG others(26): Show TTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0035 a0035	a0035c0091 a0035c0091	a0035c0091t0004 a0035c0091t0004	a0035c0091t0004g0024 a0035c0091t0004g0024	1	138	0.0072	33	c.338 others(50): Show c.3388-506_3388-505insTGGGTTTGCCCTTCCCGGCCTGGCTTCC TCCCA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1928251	T T	TTGGGAGG others(26): Show TTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp1 HG01123.hp2 others(50): Show HG00558.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG02004.hp1 HG02040.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18947.hp2 NA18952.hp2 NA18971.hp2 NA18973.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0003 a0006 others(6): Show a0001 a0003 a0006 a0012 a0014 a0020 a0026 a0041 a0048	a0001c0017 a0001c0035 a0001c0097 others(16): Show a0001c0017 a0001c0035 a0001c0097 a0003c0004 a0003c0005 a0003c0008 a0003c0056 a0003c0057 a0003c0074 a0003c0076 a0003c0089 a0006c0026 a0012c0024 a0012c0061 a0014c0043 a0020c0028 a0026c0098 a0041c0099 a0048c0090	a0001c0017t0002 a0001c0035t0002 a0001c0097t0002 others(17): Show a0001c0017t0002 a0001c0035t0002 a0001c0097t0002 a0003c0004t0002 a0003c0005t0002 a0003c0008t0002 a0003c0008t0005 a0003c0056t0002 a0003c0057t0002 a0003c0074t0002 a0003c0076t0002 a0003c0089t0002 a0006c0026t0002 a0012c0024t0002 a0012c0061t0002 a0014c0043t0002 a0020c0028t0002 a0026c0098t0002 a0041c0099t0002 a0048c0090t0002	a0001c0017t0002g0026 a0001c0017t0002g0027 a0001c0017t0002g0073 others(50): Show a0001c0017t0002g0026 a0001c0017t0002g0027 a0001c0017t0002g0073 a0001c0017t0002g0225 a0001c0035t0002g0121 a0001c0097t0002g0085 a0003c0004t0002g0031 a0003c0004t0002g0032 a0003c0004t0002g0058 a0003c0004t0002g0065 a0003c0004t0002g0070 a0003c0004t0002g0074 a0003c0004t0002g0079 a0003c0004t0002g0146 a0003c0004t0002g0226 a0003c0004t0002g0244 a0003c0004t0002g0257 a0003c0004t0002g0259 a0003c0004t0002g0265 a0003c0005t0002g0017 a0003c0005t0002g0029 a0003c0005t0002g0061 a0003c0005t0002g0067 a0003c0005t0002g0078 a0003c0005t0002g0082 a0003c0005t0002g0083 a0003c0005t0002g0120 a0003c0005t0002g0124 a0003c0005t0002g0136 a0003c0005t0002g0212 a0003c0008t0002g0003 a0003c0008t0002g0054 a0003c0008t0002g0113 a0003c0008t0002g0114 a0003c0008t0002g0193 a0003c0008t0005g0167 a0003c0056t0002g0217 a0003c0057t0002g0060 a0003c0074t0002g0033 a0003c0076t0002g0069 a0003c0089t0002g0101 a0006c0026t0002g0011 a0006c0026t0002g0110 a0012c0024t0002g0004 a0012c0024t0002g0086 a0012c0024t0002g0126 a0012c0061t0002g0198 a0014c0043t0002g0274 a0020c0028t0002g0056 a0020c0028t0002g0248 a0026c0098t0002g0173 a0041c0099t0002g0144 a0048c0090t0002g0001	53	190	0.2789	33	c.338 others(50): Show c.3388-506_3388-505insCGGGTTTGCCCTTCCCGGCCTGGCTTCC TCCCA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1934323	T T	TTAGGTTG others(26): Show TTAGGTTGTAGGTACACAGGTGTATACGTGGGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0016 a0016	a0016c0033 a0016c0033	a0016c0033t0001 a0016c0033t0001	a0016c0033t0001g0007 a0016c0033t0001g0007	1	276	0.0036	33	c.301 others(52): Show c.3012-4020_3012-3988dupCACCCACGTATACACCTGTGTACCTA CAACCTA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0176 a0001c0002t0002g0176	1	217	0.0046	33	c.195 others(52): Show c.195+28076_195+28077insATATATATATATATATATATTTTTTT TTTTTTT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP91_chr3_119698022_119772102	119738332	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	13	0.0769	33	c.146 others(50): Show c.1461+852_1461+884dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP95_chr9_69815817_69911227	69843514	T T	TCCCCCCC others(26): Show TCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp2 NA18960.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0040 a0001c0002t0001g0041 a0001c0001t0001g0040 a0001c0002t0001g0041	2	333	0.0060	33	c.153 others(50): Show c.153-1001_153-1000insCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97_chr4_185154665_185209000	185192733	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0056 a0001c0004t0007g0056	1	230	0.0043	33	c.-16 others(50): Show c.-16-1522_-16-1521insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CFAP97	ENSG00000164323.15	transcript	ENST00000458385.7	protein_coding	1/4			chr4	TogoVar
CFAP99_chr4_2413955_2468002	2466647	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0009 a0003c0004t0001g0009	1	60	0.0167	33	c.37 others(44): Show c.3721_*3722insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	203	0.0049	33	c.651 others(52): Show c.651-44501_651-44500insATATATATATATATATATATATATAT ATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	121	0.0083	33	c.651 others(52): Show c.651-44503_651-44502insATATATATATATATATATATATATAT ATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19062.hp2 NA18990.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0094 a0001c0002t0001g0096	2	56	0.0357	33	c.651 others(52): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349690	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	13	0.0769	33	c.651 others(52): Show c.651-44509_651-44508insATATATATATATATATATATATATAT ATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp1 HG02004.hp2 others(3): Show HG00735.hp2 HG01884.hp1 HG02004.hp2 HG02895.hp2 HG02897.hp1 NA19068.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0005c0006t0033 others(1): Show a0001c0001t0001 a0001c0001t0002 a0005c0006t0033 a0005c0006t0035	a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 others(3): Show a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0002g0182 a0005c0006t0033g0037 a0005c0006t0035g0038	6	187	0.0321	33	c.-16 others(52): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(26): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02083.hp1 HG00544.hp1 HG02083.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0008 a0001c0005 a0002c0008	a0001c0005t0002 a0002c0008t0003 a0001c0005t0002 a0002c0008t0003	a0001c0005t0002g0214 a0002c0008t0003g0220 a0001c0005t0002g0214 a0002c0008t0003g0220	2	18	0.1111	33	c.169 others(50): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(26): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02622.hp2 HG02647.hp2 others(2): Show HG01928.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0077 a0001c0002t0002g0085 others(2): Show a0001c0002t0002g0002 a0001c0002t0002g0077 a0001c0002t0002g0085 a0001c0002t0002g0104 a0001c0002t0002g0105	5	199	0.0251	33	c.-12 others(50): Show c.-12+1922_-12+1923insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18991.hp2 NA18950.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0255 a0001c0002t0002g0115 a0001c0001t0001g0255 a0001c0002t0002g0115	2	314	0.0064	33	c.-12 others(50): Show c.-12+1921_-12+1922insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0342 a0003c0004t0002g0342	1	44	0.0227	33	c.104 others(48): Show c.104-412_104-411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36393646	G G	GTACTGTT others(26): Show GTACTGTTTATGAGTTATGTTCTCTTATTTTATC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	341	0.0029	33	c.378 others(48): Show c.378-900_378-899insACTGTTTATGAGTTATGTTCTCTTATTTTA TCT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD6_chr3_126699240_126965420	126863056	T T	TCCACCAT others(26): Show TCCACCATCACCACCTCCTCCTCCACCATCACCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	196	0.0051	33	c.495 others(52): Show c.495+10328_495+10329insACCATCACCACCTCCTCCTCCACCAT CACCACC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126865052	C C	CTCCTCCT others(26): Show CTCCTCCTCCTCCTTTTCCACCACCTCCACTTCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	214	0.0047	33	c.495 others(52): Show c.495+12336_495+12368dupTTTCCACCACCTCCACTTCTTCCTCC TCCTCCT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126865068	T T	TCCACCAC others(26): Show TCCACCACCTCCACTTCTTCCTCCTCCTCCTCCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	121	0.0083	33	c.495 others(52): Show c.495+12371_495+12403dupACCACCACCTCCACTTCTTCCTCCTC CTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0084 a0002c0002t0011g0084	1	119	0.0084	33	c.54- others(48): Show c.54-6049_54-6048insATATATATATATATATATATATATATATTT TTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(26): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01257.hp2 others(4): Show HG00438.hp2 HG00642.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG04115.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0020 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0120	7	106	0.0660	33	c.-36 others(44): Show c.-3694_-3693insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	27	0.0370	33	c.612 others(50): Show c.6127+921_6127+953dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	121	0.0083	33	c.853 others(50): Show c.853-4721_853-4720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0365 a0001c0002t0001g0365	1	103	0.0097	33	c.100 others(52): Show c.1009-1242_1009-1241insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14			chr22	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	113	0.0088	33	c.83 others(44): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85871320	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0208	1	232	0.0043	33	c.177 others(52): Show c.1770+1731_1770+1732insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86020624	T T	TATACATC others(26): Show TATACATCTGATATATATCTCCGATATATATGAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA20752.hp1 HG00642.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0017 a0001c0001t0001g0032	2	243	0.0082	33	c.116 others(50): Show c.116+6834_116+6866dupTTCATATATATCGGAGATATATATCAGA TGTAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHP2_chr16_23750026_23763935	23759423	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01361.hp2 HG01952.hp2 others(14): Show HG01167.hp1 HG01361.hp2 HG01952.hp2 HG01993.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02818.hp1 HG02818.hp2 HG03130.hp1 HG03516.hp1 NA18943.hp2 NA19043.hp1 NA19072.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0003g0002 a0002c0002t0001g0002 a0003c0003t0001g0002	17	311	0.0547	33	c.18 others(44): Show c.1840_*1841insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		489		chr16	TogoVar
CHRFAM7A_chr15_30355566_30398540	30360310	C C	CACTTCTA others(26): Show CACTTCTACTTGTTTCTAAAGACACTGTAACAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG02572.hp2 HG02735.hp2 others(2): Show HG01515.hp1 HG02572.hp2 HG02735.hp2 HG03579.hp1 HG03669.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0002c0010 a0002c0026 others(1): Show a0002c0008 a0002c0010 a0002c0026 a0003c0003	a0002c0008t0010 a0002c0010t0010 a0002c0026t0010 others(1): Show a0002c0008t0010 a0002c0010t0010 a0002c0026t0010 a0003c0003t0002	a0002c0008t0010g0117 a0002c0008t0010g0118 a0002c0010t0010g0121 others(2): Show a0002c0008t0010g0117 a0002c0008t0010g0118 a0002c0010t0010g0121 a0002c0026t0010g0119 a0003c0003t0002g0015	5	115	0.0435	33	c.19 others(44): Show c.1982_*1983insTCTGTTACAGTGTCTTTAGAAACAAGTAGAAGT	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		255		chr15	TogoVar
CHRM3_chr1_239381568_239920450	239385815	C C	CTCTCTTT others(26): Show CTCTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0078 a0001c0001t0013g0078	1	36	0.0278	33	c.-19 others(44): Show c.-1933_-1932insTCTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		752		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239385815	C C	CTCTCTTT others(26): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0012 a0001c0001t0057g0012	1	36	0.0278	33	c.-19 others(44): Show c.-1933_-1932insTCTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		752		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239385815	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0085 a0001c0001t0013g0085	1	36	0.0278	33	c.-19 others(44): Show c.-1933_-1932insTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		752		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239409979	G G	GCTTGGTA others(26): Show GCTTGGTAACCAGGAATTCAGTGAATACAGAATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	114	0.0088	33	c.-52 others(54): Show c.-521+22753_-521+22785dupCTTGGTAACCAGGAATTCAGTGAA TACAGAATT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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