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
BRINP1_chr9_119161629_119374435	119249853	A A	AGGAAGGA others(30): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0197 a0001c0005t0001g0197	1	226	0.0044	37	c.219 others(52): Show c.219-704_219-703insCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCC	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRINP3_chr1_190092658_190482864	190482388	C C	CATATATA others(30): Show CATATATATACGTGTATATATGTGTATATATATATGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA21309.hp1 HG03490.hp2 HG03492.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0184 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0184	3	221	0.0136	37	c.-49 others(48): Show c.-4992_-4991insTGCATATATATATACACATATATACACGTATATA TAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding		4525		chr1	TogoVar
BRSK1_chr19_55278997_55317562	55285015	A A	AGGGTCTG others(30): Show AGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02683.hp2 HG03098.hp1 others(10): Show HG02258.hp2 HG02683.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp2 NA18943.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0004t0003 a0001c0018t0001	a0001c0001t0001g0013 a0001c0001t0001g0273 a0001c0001t0001g0279 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0002g0013 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0281 a0001c0001t0006g0276 a0001c0001t0030g0013 a0001c0002t0001g0278 a0001c0002t0002g0280 a0001c0004t0003g0274 a0001c0018t0001g0275	13	336	0.0387	37	c.136 others(52): Show c.136+457_136+493dupCTGGGGGTCTGGACTTCTGGGTCTGAGGGA GGAGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55286026	A A	AAGGGAGG others(30): Show AAGGGAGGAGGGGCTGGGGTCTGGAAGTGCTGTGTCTG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0262 a0001c0002t0019g0262	1	323	0.0031	37	c.137 others(52): Show c.137-963_137-962insTCTGGAAGTGCTGTGTCTGAGGGAGGAGGG GCTGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRWD3_chrX_80664503_80814877	80726273	T T	TTATATGT others(30): Show TTATATGTCTGTATAACATATAACACGTTTACATGTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0116 a0001c0001t0037g0116	1	253	0.0040	37	c.138 others(56): Show c.1387-1207_1387-1206insTAACATGTAAACGTGTTATATGTTAT ACAGACATATA	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	14/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80754987	A A	AACAGAGC others(30): Show AACAGAGCGAAACTCCGTCTCAAATTAAAAAAAAAAGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0172 a0001c0001t0075g0172	1	263	0.0038	37	c.431 others(54): Show c.431-9295_431-9259dupCCTTTTTTTTTTAATTTGAGACGGAGTT TCGCTCTGT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	6/40			chrX	TogoVar
BSG_chr19_567596_588493	570588	T T	TGGAGGGG others(30): Show TGGAGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	254	0.0039	37	c.-20 others(48): Show c.-2047_-2046insGGAGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGG TTG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2007		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03579.hp2 HG02622.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0221 a0001c0001t0253 a0001c0001t0221 a0001c0001t0253	a0001c0001t0221g0068 a0001c0001t0253g0067 a0001c0001t0221g0068 a0001c0001t0253g0067	2	279	0.0072	37	c.-23 others(48): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BTAF1_chr10_91918770_92036437	92012243	C C	CCCTCTAT others(30): Show CCCTCTATCTCCTCCCCTCTCCCCTCCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	23	0.0435	37	c.431 others(54): Show c.4311+830_4311+831insTCTATCTCCTCCCCTCTCCCCTCCCCCC CTCCCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565436	A A	ATATTATA others(30): Show ATATTATATATAATATATATTATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	216	0.0046	37	c.314 others(56): Show c.314-51498_314-51497insATATATATAATATATATAATATATAT TATATATAATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C12orf40_chr12_39621183_39726914	39653585	C C	CTTCTTTT others(30): Show CTTCTTTTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp2 HG02135.hp2 others(4): Show HG00621.hp1 HG02027.hp2 HG02135.hp2 HG03225.hp2 HG03486.hp1 HG06807.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0046 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0080	7	121	0.0579	37	c.686 others(54): Show c.686+3236_686+3237insTTTCTTCTTCTTCTTCTTTCTTCTTCTT CTTTTTCTT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308972	A A	AAAGAAAG others(30): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	291	0.0034	37	c.968 others(54): Show c.968+3706_968+3707insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12			chr12	TogoVar
C17orf78_chr17_37370985_37397708	37390247	T T	TATAATTA others(30): Show TATAATTATATATAATATATTATATATAATTATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18952.hp2 NA18941.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	2	435	0.0046	37	c.750 others(52): Show c.750+888_750+889insATTATATATAATATATTATATATAATTATA TATAATA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(30): Show TTTTATATATATATATATTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00639.hp2 others(12): Show HG00140.hp1 HG00639.hp1 HG00639.hp2 HG01099.hp1 HG01123.hp1 HG01243.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02135.hp2 HG03491.hp1 HG03492.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0041 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0256 a0001c0001t0001g0294	15	296	0.0507	37	c.750 others(52): Show c.750+943_750+944insTTATATATATATATATTATATATATATATA TATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(30): Show TTTTATATATATATATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	282	0.0035	37	c.750 others(52): Show c.750+943_750+944insTTATATATATATATTATATATATATATATA TATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C1QTNF9_chr13_24304580_24327531	24309306	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	459	0.0022	37	c.-33 others(46): Show c.-333_-332insATATATATATATATATATATATATATATATATATAT A	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		273		chr13	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTTATATA others(30): Show TTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0422 a0001c0001t0002g0422	1	133	0.0075	37	c.57- others(52): Show c.57-2039_57-2038insTATATATATATATATATATATATATATATA TATATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410626	T T	TATATATA others(30): Show TATATATAATATATATATATATTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0157 a0001c0001t0015g0157	1	213	0.0047	37	c.-12 others(58): Show c.-125+23265_-125+23266insATATATATATATATTATATATATA TATATAATATATA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG03927.hp2 NA19090.hp2 HG01175.hp1 HG03927.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0098 a0002c0002t0001g0127 a0002c0002t0001g0028 a0002c0002t0001g0098 a0002c0002t0001g0127	3	173	0.0173	37	c.35 others(48): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C21orf62_chr21_32785673_32818703	32803508	G G	GCAGTGTG others(30): Show GCAGTGTGAGGGCTTTAGCTGTAGGACCTTGAAATGCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0241 a0001c0001t0011g0241	1	302	0.0033	37	c.-65 others(54): Show c.-65+4097_-65+4133dupAGCATTTCAAGGTCCTACAGCTAAAGCC CTCACACTG	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	3/3			chr21	TogoVar
C22orf42_chr22_32144006_32164303	32146043	G G	GAATATAT others(30): Show GAATATATATTAGATAATATATTAGATAATATATAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02630.hp1 others(3): Show HG02145.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0007t0002 a0002c0002t0002 a0002c0007t0002	a0002c0002t0002g0029 a0002c0002t0002g0087 a0002c0007t0002g0011 others(2): Show a0002c0002t0002g0029 a0002c0002t0002g0087 a0002c0007t0002g0011 a0002c0007t0002g0045 a0002c0007t0002g0046	6	249	0.0241	37	c.34 others(48): Show c.3496_*3497insTCTTATATATTATCTAATATATTATCTAATATAT ATT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2962		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32146150	T T	TTATTATA others(30): Show TTATTATATAATATAACATATTATATATTAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02155.hp1 HG00438.hp2 HG02155.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0031 a0002c0006t0002g0031	2	387	0.0052	37	c.33 others(48): Show c.3389_*3390insTTATATATTAATATATAATATGTTATATTATATA ATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2855		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0011 a0002c0007t0002g0011	1	114	0.0088	37	c.16 others(48): Show c.1637_*1638insAAAAAAAAATATATATATATATATATATATATAT ATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0257 a0001c0003t0037g0257	1	239	0.0042	37	c.280 others(54): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD4C_chr19_400445_414147	404061	T T	TGGGGGGG others(30): Show TGGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	197	0.0051	37	c.30 others(48): Show c.3034_*3035insCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCC CCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1383		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(30): Show GTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0031 a0001c0001t0034g0031	1	237	0.0042	37	c.-17 others(48): Show c.-1799_-1798insTCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCA GGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(30): Show GTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0089 a0001c0001t0109g0089	1	237	0.0042	37	c.-17 others(48): Show c.-1799_-1798insTCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCA GGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(30): Show GTCCTGGGGGTCTGTCCACCGTCACTGCTGGGCACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA18906.hp1 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0030 a0001c0001t0032g0030	2	238	0.0084	37	c.-17 others(48): Show c.-1799_-1798insTCCGTGCCCAGCAGTGACGGTGGACAGACCCCCA GGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(30): Show GTCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0042 a0001c0001t0030g0042	1	237	0.0042	37	c.-17 others(48): Show c.-1799_-1798insTCCGGGCCCAGCAGTGACGGTGGACAGACCCCCA GGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410782	T T	TGCCCCTG others(30): Show TGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	87	0.0115	37	c.-18 others(48): Show c.-1818_-1817insGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGG GGC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1636		chr19	TogoVar
C2CD4C_chr19_400445_414147	410783	G G	GTCTCTGC others(30): Show GTCTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0036 a0001c0001t0043g0036	1	319	0.0031	37	c.-18 others(48): Show c.-1819_-1818insTGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG AGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1637		chr19	TogoVar
C2CD4C_chr19_400445_414147	410786	C C	CCTGCTGG others(30): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	266	0.0038	37	c.-18 others(48): Show c.-1822_-1821insTGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1640		chr19	TogoVar
C2CD4C_chr19_400445_414147	410786	C C	CCTGCTGG others(30): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03471.hp2 HG02970.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0034 a0001c0001t0041g0034	2	267	0.0075	37	c.-18 others(48): Show c.-1822_-1821insTGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1640		chr19	TogoVar
C2CD4C_chr19_400445_414147	410833	A A	ACGGATCC others(30): Show ACGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0077 a0001c0001t0094g0077	1	172	0.0058	37	c.-18 others(48): Show c.-1869_-1868insGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGAT CCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1687		chr19	TogoVar
C2CD4C_chr19_400445_414147	410860	A A	ACTGCTGG others(30): Show ACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0036 a0001c0001t0043g0036	1	97	0.0103	37	c.-18 others(48): Show c.-1896_-1895insAGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1714		chr19	TogoVar
C2CD4C_chr19_400445_414147	410971	C C	CCTGCTGG others(30): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	283	0.0035	37	c.-20 others(48): Show c.-2007_-2006insTGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1825		chr19	TogoVar
C2CD4C_chr19_400445_414147	411008	C C	CCTGCTGG others(30): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	261	0.0038	37	c.-20 others(48): Show c.-2044_-2043insTGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1862		chr19	TogoVar
C2CD4C_chr19_400445_414147	411045	C C	CCTGCTGG others(30): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0098 a0001c0001t0019g0098	1	194	0.0052	37	c.-20 others(48): Show c.-2081_-2080insTGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1899		chr19	TogoVar
C2CD4C_chr19_400445_414147	411082	C C	CCTGCTGG others(30): Show CCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	290	0.0034	37	c.-21 others(48): Show c.-2118_-2117insTGACGGTGGACAGATCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1936		chr19	TogoVar
C2CD4C_chr19_400445_414147	411119	C C	CCTGCTGG others(30): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02148.hp1 HG01981.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0137 a0001c0001t0042 a0001c0001t0137	a0001c0001t0042g0035 a0001c0001t0137g0110 a0001c0001t0042g0035 a0001c0001t0137g0110	2	183	0.0109	37	c.-21 others(48): Show c.-2155_-2154insAGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1973		chr19	TogoVar
C2CD4C_chr19_400445_414147	411207	A A	ATCCTGGG others(30): Show ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0155 a0001c0001t0049g0155	1	313	0.0032	37	c.-22 others(48): Show c.-2243_-2242insCCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCA GGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2061		chr19	TogoVar
C2CD4C_chr19_400445_414147	411302	T T	TCACTGCT others(30): Show TCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA19000.hp2 HG02083.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0039 a0001c0001t0020 a0001c0001t0039	a0001c0001t0020g0020 a0001c0001t0039g0102 a0001c0001t0020g0020 a0001c0001t0039g0102	2	172	0.0116	37	c.-23 others(48): Show c.-2338_-2337insGTGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GTG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2156		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(30): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG03225.hp2 HG02622.hp1 HG02630.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0142 a0001c0001t0004 a0001c0001t0142	a0001c0001t0004g0013 a0001c0001t0142g0050 a0001c0001t0004g0013 a0001c0001t0142g0050	3	110	0.0273	37	c.-23 others(48): Show c.-2340_-2339insGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(30): Show TCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02886.hp1 others(2): Show HG02258.hp1 HG02572.hp2 HG02886.hp1 HG02922.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0015 a0001c0001t0043 a0001c0001t0114 others(2): Show a0001c0001t0015 a0001c0001t0043 a0001c0001t0114 a0001c0004t0004 a0002c0003t0095	a0001c0001t0015g0010 a0001c0001t0043g0036 a0001c0001t0114g0093 others(2): Show a0001c0001t0015g0010 a0001c0001t0043g0036 a0001c0001t0114g0093 a0001c0004t0004g0004 a0002c0003t0095g0116	5	112	0.0446	37	c.-23 others(48): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(30): Show TCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	108	0.0093	37	c.-23 others(48): Show c.-2340_-2339insGGGCGGTGGACAGACCCCAAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(30): Show TCTGCTGGGCCTGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01361.hp2 others(4): Show HG00642.hp1 HG00733.hp1 HG01361.hp2 HG02080.hp2 HG03490.hp1 HG03492.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0028 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0028 a0001c0002t0060	a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0002t0028g0037 others(1): Show a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0002t0028g0037 a0001c0002t0060g0124	7	114	0.0614	37	c.-23 others(48): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCAGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411314	C C	CCGGATCC others(30): Show CCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0088 a0001c0001t0107g0088	1	312	0.0032	37	c.-23 others(48): Show c.-2350_-2349insTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2168		chr19	TogoVar
C2orf69_chr2_199906293_199933273	199913184	T T	TATATATA others(30): Show TATATATATTCTATATAATATATAATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	400	0.0025	37	c.333 others(54): Show c.333+1422_333+1423insCTATATAATATATAATATATTATATATA ATATATATT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf78_chr2_73779183_73822148	73810568	G G	GTATATTT others(30): Show GTATATTTTATGTATATTATATATATACATAAAATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	210	0.0048	37	c.98- others(52): Show c.98-2898_98-2862dupGTATATTATATATATACATAAAATATATAT ATTTTAT	C2orf78	ENSG00000187833.8	transcript	ENST00000409561.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7orf50_chr7_992006_1143247	1016877	C C	CGCCAGCA others(30): Show CGCCAGCACACAGCAGCGCACGCCAGCACACAGCAGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02965.hp1 HG01167.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0250 a0001c0001t0008g0155 a0001c0001t0005g0250 a0001c0001t0008g0155	2	324	0.0062	37	c.130 others(54): Show c.130-6735_130-6734insTCCTGCTGTGTGCTGGCGTGCGCTGCTG TGTGCTGGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar

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