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
CR1L_chr1_207640133_207728703	207682960	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0327 a0006c0006t0001g0327	1	249	0.0040	40	c.378 others(55): Show c.378-881_378-880insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207683010	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTTTCTTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0289 a0004c0004t0001g0289	1	229	0.0044	40	c.378 others(55): Show c.378-861_378-860insCTTTCTTTCTTTCTTTCTTTTTCTTTTTTT CTTTCTTTCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207581305	C C	CACGTATA others(33): Show CACGTATATGTATACGTATACATGTACATGTGTATATGTAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0081 a0004c0004t0001g0081	1	358	0.0028	40	c.521 others(57): Show c.5217-605_5217-566dupTGTATACGTATACATGTACATGTGTATA TGTATACGTATA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	31/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0202 a0007c0012t0001g0203 a0007c0012t0001g0202 a0007c0012t0001g0203	2	78	0.0256	40	c.689 others(57): Show c.6890-563_6890-562insATATATATATATATATATATATATATAT ATATGTGTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACD_chr4_56044098_56335609	56183235	A A	AAAAATAA others(33): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0098 a0001c0001t0029g0098	1	37	0.0270	40	c.-18 others(59): Show c.-189+3820_-189+3859dupTAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56214681	C C	CTCTCTCT others(33): Show CTCTCTCTCTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0246 a0002c0002t0002g0246	1	15	0.0667	40	c.-18 others(61): Show c.-189+35252_-189+35253insCTCTCTCTATATATATATATATAT ATATATATATATATAT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3643862	T T	TATATATA others(33): Show TATATATATTATATATTATATATATTTATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02602.hp2 HG02970.hp1 others(11): Show HG02486.hp2 HG02602.hp2 HG02970.hp1 HG02976.hp1 NA18946.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18979.hp1 NA18982.hp1 NA19007.hp1 NA19012.hp1	a0001 a0004 a0016 others(1): Show a0001 a0004 a0016 a0021	a0001c0001 a0004c0004 a0016c0014 others(1): Show a0001c0001 a0004c0004 a0016c0014 a0021c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0004t0002 a0016c0014t0001 a0021c0031t0002	a0001c0001t0001g0155 a0001c0001t0001g0191 a0001c0001t0001g0213 others(11): Show a0001c0001t0001g0155 a0001c0001t0001g0191 a0001c0001t0001g0213 a0001c0001t0001g0236 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0002g0305 a0001c0001t0003g0018 a0004c0004t0002g0033 a0016c0014t0001g0029 a0021c0031t0002g0112	14	318	0.0440	40	c.116 others(57): Show c.1164+732_1164+733insTATATATATAATATAAATATATATAATA TATAATATATAT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	12/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745780	A A	AAAAATAA others(33): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01517.hp1 HG02129.hp1 others(5): Show HG00738.hp2 HG01517.hp1 HG02129.hp1 HG02165.hp2 HG03540.hp2 HG03704.hp2 NA18612.hp1 NA18946.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0006c0006t0001 a0001c0001t0001 a0001c0001t0003 a0006c0006t0001	a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0130 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0130 a0001c0001t0001g0172 a0001c0001t0001g0273 a0001c0001t0003g0014 a0001c0001t0003g0015 a0006c0006t0001g0272	8	137	0.0584	40	c.-38 others(59): Show c.-387+7195_-387+7234dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRAMP1_chr16_1607360_1682908	1661423	A A	AGGGGGGC others(33): Show AGGGGGGCCGGGTGAGGGGTCCTGGCCTCCTGGGTGACGGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	330	0.0030	40	c.241 others(59): Show c.2414-1101_2414-1062dupGCCGGGTGAGGGGTCCTGGCCTCCTG GGTGACGGAGGGGG	CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREB3L2_chr7_137869979_138007086	137899096	A A	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0204 a0002c0002t0005g0204	1	155	0.0065	40	c.104 others(59): Show c.1043+2218_1043+2257dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	8/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137899168	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	286	0.0035	40	c.104 others(59): Show c.1043+2185_1043+2186insGTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	8/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946856	C C	CTATATAT others(33): Show CTATATATAGTTATATATATAGTTATCTATATATAGTTATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0085 a0001c0001t0012g0085	1	226	0.0044	40	c.103 others(59): Show c.103-18491_103-18490insTATAACTATATATAGATAACTATATA TATAACTATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946900	T T	TTATCTAT others(33): Show TTATCTATATAGTTATATATATATAGTTATCTATATAGTTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0061 a0003c0003t0061	a0003c0003t0061g0172 a0003c0003t0061g0172	1	121	0.0083	40	c.103 others(59): Show c.103-18535_103-18534insTAACTATATAGATAACTATATATATA TAACTATATAGATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L3_chr19_4148631_4178054	4163351	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02165.hp2 HG02683.hp2 others(1): Show HG01358.hp1 HG02165.hp2 HG02683.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0011 a0001c0001t0001 a0001c0001t0002 a0001c0002t0011	a0001c0001t0001g0008 a0001c0001t0001g0102 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0102 a0001c0001t0002g0002 a0001c0002t0011g0112	4	245	0.0163	40	c.577 others(57): Show c.577-1149_577-1148insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGGAA	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB3L3_chr19_4148631_4178054	4163351	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	242	0.0041	40	c.577 others(57): Show c.577-1149_577-1148insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGAAGGAA	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03017.hp2 HG03041.hp1 others(3): Show HG01884.hp2 HG03017.hp2 HG03041.hp1 HG03516.hp1 HG04184.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0029	a0001c0001t0001g0083 a0001c0001t0001g0109 a0001c0001t0004g0022 others(3): Show a0001c0001t0001g0083 a0001c0001t0001g0109 a0001c0001t0004g0022 a0001c0001t0010g0144 a0001c0001t0012g0119 a0001c0001t0029g0110	6	43	0.1395	40	c.4-1 others(53): Show c.4-1482_4-1481insATATATATATATATATATATATATATATATAT ATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28658963	A A	ATATATAT others(33): Show ATATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04228.hp1 HG03239.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0001 a0001c0001t0050	a0001c0001t0001g0060 a0001c0001t0050g0032 a0001c0001t0001g0060 a0001c0001t0050g0032	2	174	0.0115	40	c.465 others(59): Show c.465-59777_465-59776insGTATATATATATATATATATATATAT GTATATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28775543	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	56	0.0179	40	c.703 others(59): Show c.703-28634_703-28633insATATATATATATATATATATATATAT ATATATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBRF_chr5_173051352_173144284	173117579	C C	CTCCCTCC others(33): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03540.hp1 HG01243.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0020 a0001c0001t0011g0021 a0001c0001t0011g0020 a0001c0001t0011g0021	2	159	0.0126	40	c.168 others(59): Show c.1681+5203_1681+5204insCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCC	CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CREBRF_chr5_173051352_173144284	173117579	C C	CTCCCTCC others(33): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01934.hp1 HG01516.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0282 a0001c0001t0002g0215 a0001c0001t0002g0282	2	159	0.0126	40	c.168 others(59): Show c.1681+5203_1681+5204insCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCC	CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CRELD1_chr3_9928834_9950406	9940050	G G	GCTCCTCA others(33): Show GCTCCTCACTTCTCAGACTGGGCGGCTGCCAGGCGGAGGGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01952.hp1 HG01975.hp2 others(9): Show HG00558.hp1 HG01952.hp1 HG01975.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG03239.hp1 HG03688.hp1 NA18747.hp2 NA18967.hp1 NA18971.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0179 a0001c0001t0001g0180 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186	12	231	0.0519	40	c.461 others(55): Show c.461-783_461-782insTGGGCGGCTGCCAGGCGGAGGGTCTCCTCA CTTCTCAGAC	CRELD1	ENSG00000163703.20	transcript	ENST00000452070.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CRIP2_chr14_105469821_105485162	105474918	C C	CCGCTCCC others(33): Show CCGCTCCCGGCCCGCTCGGTGCATCCCGCCGCCCTTCGCGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	314	0.0032	40	c.43+ others(51): Show c.43+15_43+54dupGCTCCCGGCCCGCTCGGTGCATCCCGCCGCCCTT CGCGGC	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0022 a0004c0005t0022	a0004c0005t0022g0211 a0004c0005t0022g0211	1	10	0.1000	40	c.684 others(59): Show c.684+33309_684+33310insATATATATATATATATATATATATAT TTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	303	0.0033	40	c.301 others(55): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218820	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	355	0.0028	40	c.-87 others(49): Show c.-873_-872insAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAG	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		818		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361953	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp2 HG01496.hp1 others(13): Show HG01070.hp1 HG01106.hp2 HG01496.hp1 HG01516.hp1 HG02572.hp2 HG02976.hp2 HG03225.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG04199.hp1 NA18747.hp1 NA18950.hp1 NA19080.hp2 NA20752.hp2 NA20805.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0008 a0015 a0016 a0059	a0001c0001 a0001c0009 a0003c0002 others(9): Show a0001c0001 a0001c0009 a0003c0002 a0004c0004 a0004c0057 a0004c0069 a0005c0008 a0006c0005 a0008c0010 a0015c0017 a0016c0016 a0059c0071	a0001c0001t0001 a0001c0001t0004 a0001c0009t0001 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0009t0001 a0001c0009t0004 a0003c0002t0005 a0004c0004t0002 a0004c0057t0002 a0004c0069t0002 a0005c0008t0003 a0006c0005t0003 a0006c0005t0004 a0008c0010t0004 a0015c0017t0007 a0016c0016t0001 a0059c0071t0004	a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0004g0158 others(13): Show a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0004g0158 a0001c0009t0001g0162 a0001c0009t0004g0154 a0003c0002t0005g0167 a0004c0004t0002g0166 a0004c0057t0002g0161 a0004c0069t0002g0156 a0005c0008t0003g0165 a0006c0005t0003g0160 a0006c0005t0004g0169 a0008c0010t0004g0168 a0015c0017t0007g0159 a0016c0016t0001g0164 a0059c0071t0004g0157	16	198	0.0808	40	c.173 others(55): Show c.173+875_173+876insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18948.hp2 HG03540.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0004 a0001c0001t0001 a0001c0009t0004	a0001c0001t0001g0163 a0001c0009t0004g0081 a0001c0001t0001g0163 a0001c0009t0004g0081	2	221	0.0090	40	c.173 others(59): Show c.173+16567_173+16568insATATATATATATATATATATATATAT ATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG3_chr3_97817011_97949984	97946586	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0155 a0016c0019t0001g0155	1	116	0.0086	40	c.32 others(51): Show c.3272_*3273insTATATATATATATATATATATATATATATATATA TATATA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1603		chr3	TogoVar
CRYM_chr16_21253521_21283290	21281159	T T	TATATGTA others(33): Show TATATGTATATACATATATACGTATCTATGTATCTATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 NA18944.hp2 NA18993.hp1 others(2): Show HG03225.hp2 NA18944.hp2 NA18993.hp1 NA19057.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0031 a0001c0002t0001g0029 a0001c0002t0001g0146 a0001c0001t0001g0031 a0001c0002t0001g0029 a0001c0002t0001g0146	5	392	0.0128	40	c.-29 others(51): Show c.-2948_-2909dupCTATATAGATACATAGATACGTATATATGTATAT ACATAT	CRYM	ENSG00000103316.12	transcript	ENST00000572914.2	protein_coding		2870		chr16	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18953.hp2 HG03139.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0003 a0001c0001t0002 a0001c0006t0003	a0001c0001t0002g0239 a0001c0006t0003g0188 a0001c0001t0002g0239 a0001c0006t0003g0188	2	295	0.0068	40	c.49+ others(55): Show c.49+1996_49+2035dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02300.hp2 NA19079.hp2 HG01346.hp1 HG02300.hp2 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0013 a0002c0003 a0002c0013	a0002c0003t0001 a0002c0013t0003 a0002c0003t0001 a0002c0013t0003	a0002c0003t0001g0265 a0002c0003t0001g0315 a0002c0013t0003g0266 a0002c0003t0001g0265 a0002c0003t0001g0315 a0002c0013t0003g0266	3	296	0.0101	40	c.49+ others(55): Show c.49+2035_49+2036insCTTTCTTTCTTTCTTTCTTTCTCTCTTTCT TTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19001.hp2 NA18982.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0308 a0001c0001t0007g0098 a0001c0001t0002g0308 a0001c0001t0007g0098	2	306	0.0065	40	c.49+ others(55): Show c.49+1988_49+1989insCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18906.hp2 NA18964.hp2 HG02165.hp2 NA18906.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0004t0001 a0001c0005t0004 a0001c0002t0001 a0001c0004t0001 a0001c0005t0004	a0001c0002t0001g0149 a0001c0004t0001g0164 a0001c0005t0004g0293 a0001c0002t0001g0149 a0001c0004t0001g0164 a0001c0005t0004g0293	3	307	0.0098	40	c.49+ others(55): Show c.49+1988_49+1989insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1307517	G G	GACCTTCG others(33): Show GACCTTCGACTGATTAGATGAAGCCCACCATTCTCCTTTAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02897.hp1 others(3): Show HG02257.hp2 HG02622.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03453.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0004c0010	a0001c0001t0002 a0001c0001t0012 a0002c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0012 a0002c0003t0002 a0002c0004t0007 a0004c0010t0006	a0001c0001t0002g0032 a0001c0001t0012g0004 a0002c0003t0002g0142 others(3): Show a0001c0001t0002g0032 a0001c0001t0012g0004 a0002c0003t0002g0142 a0002c0003t0002g0146 a0002c0004t0007g0153 a0004c0010t0006g0031	6	153	0.0392	40	c.112 others(59): Show c.1126-1880_1126-1879insCGACTGATTAGATGAAGCCCACCATT CTCCTTTATACCTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0169 a0001c0002t0022g0169	1	141	0.0071	40	c.-29 others(61): Show c.-296-47491_-296-47490insATATATATATATATATATATATAT ATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667027	G G	GAAAGAAA others(33): Show GAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAACA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0056 a0001c0002t0009g0056	1	224	0.0045	40	c.-39 others(61): Show c.-391-65163_-391-65162insTGTTTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898087	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	381	0.0026	40	c.-15 others(51): Show c.-1577_-1576insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1514		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(33): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18995.hp2 NA18984.hp1 NA18995.hp2	a0001 a0037 a0001 a0037	a0001c0059 a0037c0009 a0001c0059 a0037c0009	a0001c0059t0001 a0037c0009t0001 a0001c0059t0001 a0037c0009t0001	a0001c0059t0001g0036 a0037c0009t0001g0002 a0001c0059t0001g0036 a0037c0009t0001g0002	2	10	0.2000	40	c.562 others(59): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC ACACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558369	G G	GTGCCTCA others(33): Show GTGCCTCAATGGTACCCCGTGTCCACTCCTCCAATGATGAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03669.hp1 HG02683.hp1 HG03669.hp1	a0001 a0001	a0001c0006 a0001c0021 a0001c0006 a0001c0021	a0001c0006t0002 a0001c0021t0005 a0001c0006t0002 a0001c0021t0005	a0001c0006t0002g0109 a0001c0021t0005g0012 a0001c0006t0002g0109 a0001c0021t0005g0012	2	122	0.0164	40	c.134 others(61): Show c.1344+16575_1344+16576insTTCATCATTGGAGGAGTGGACACG GGGTACCATTGAGGCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558379	A A	ACCCCGTG others(33): Show ACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp2 HG03195.hp1 others(1): Show HG02723.hp1 HG02922.hp2 HG03195.hp1 NA18522.hp1	a0002 a0021 a0023 others(1): Show a0002 a0021 a0023 a0035	a0002c0054 a0021c0038 a0023c0069 others(1): Show a0002c0054 a0021c0038 a0023c0069 a0035c0023	a0002c0054t0079 a0021c0038t0075 a0023c0069t0043 others(1): Show a0002c0054t0079 a0021c0038t0075 a0023c0069t0043 a0035c0023t0001	a0002c0054t0079g0096 a0021c0038t0075g0067 a0023c0069t0043g0100 others(1): Show a0002c0054t0079g0096 a0021c0038t0075g0067 a0023c0069t0043g0100 a0035c0023t0001g0052	4	70	0.0571	40	c.134 others(61): Show c.1344+16565_1344+16566insCATTGAGGCACCATTCATCATTGG AGGAGTGGACACGGGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(33): Show TTATATATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0103 a0001c0103	a0001c0103t0033 a0001c0103t0033	a0001c0103t0033g0028 a0001c0103t0033g0028	1	9	0.1111	40	c.818 others(61): Show c.818+104563_818+104564insTATATATATATATATATATATATA TATATATACATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926108	C C	CACAAACA others(33): Show CACAAACACCATATATACACACACACACACACAAACACCAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02647.hp2 HG02922.hp1 others(2): Show HG01123.hp1 HG02647.hp2 HG02922.hp1 HG03516.hp1 NA18522.hp1	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0022 a0035	a0002c0084 a0004c0014 a0006c0008 others(2): Show a0002c0084 a0004c0014 a0006c0008 a0022c0062 a0035c0023	a0002c0084t0017 a0004c0014t0055 a0006c0008t0082 others(2): Show a0002c0084t0017 a0004c0014t0055 a0006c0008t0082 a0022c0062t0057 a0035c0023t0001	a0002c0084t0017g0087 a0004c0014t0055g0056 a0006c0008t0082g0126 others(2): Show a0002c0084t0017g0087 a0004c0014t0055g0056 a0006c0008t0082g0126 a0022c0062t0057g0062 a0035c0023t0001g0052	5	85	0.0588	40	c.818 others(59): Show c.818+71794_818+71795insATGGTGTTTGTGTGTGTGTGTGTGTA TATATGGTGTTTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112410614	A A	ATGTATAT others(33): Show ATGTATATATATATGTGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG01255.hp2 others(4): Show HG00423.hp1 HG01175.hp1 HG01255.hp2 HG02735.hp2 HG03490.hp1 HG03688.hp2 NA19063.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0007 a0002c0005 a0002c0011 others(1): Show a0001c0007 a0002c0005 a0002c0011 a0010c0030	a0001c0007t0001 a0002c0005t0001 a0002c0011t0001 others(1): Show a0001c0007t0001 a0002c0005t0001 a0002c0011t0001 a0010c0030t0001	a0001c0007t0001g0012 a0002c0005t0001g0027 a0002c0005t0001g0033 others(4): Show a0001c0007t0001g0012 a0002c0005t0001g0027 a0002c0005t0001g0033 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0011t0001g0001 a0010c0030t0001g0030	7	61	0.1148	40	c.539 others(59): Show c.5396-1583_5396-1582insCATATATATATACATATATATATACA CATATATATATACA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153125	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	76	0.0132	40	c.709 others(59): Show c.709+20596_709+20597insTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153126	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	66	0.0152	40	c.709 others(59): Show c.709+20595_709+20596insCTTCTTTCTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSNK1G1_chr15_64160525_64361173	64231491	T T	TGTTCACT others(33): Show TGTTCACTACTGTATCCCTAAGACTTAGCTTAGAATAGTAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	174	0.0057	40	c.293 others(59): Show c.293-14818_293-14779dupGTACTATTCTAAGCTAAGTCTTAGGG ATACAGTAGTGAAC	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19010.hp1 HG02071.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0115 a0001c0003t0001g0237 a0001c0001t0001g0115 a0001c0003t0001g0237	2	270	0.0074	40	c.429 others(57): Show c.429+2492_429+2493insATATATATATATATATATATATATATAT ATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSRNP3_chr2_165464698_165694407	165477483	A A	AATATATA others(33): Show AATATATATATATATAATACAAATATATATATATATGAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0231	1	149	0.0067	40	c.-28 others(59): Show c.-283+7778_-283+7779insGAAATATATATATATATATAATACAA ATATATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRP3_chr11_19177030_19206983	19197501	C C	CTCTTTCG others(33): Show CTCTTTCGTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	116	0.0086	40	c.-29 others(57): Show c.-29+4452_-29+4453insAAGAAAGAAAGAAAGAAAGAAAGAAGGA AAGAACGAAAGA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CST7_chr20_24944269_24964928	24957026	G G	GAGGGGGC others(33): Show GAGGGGGCAGGTGAGGGAGAACAGGTGAGGGGGGCAGGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp2 HG02965.hp2 others(1): Show HG02572.hp1 HG02886.hp2 HG02965.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0012 a0001c0002t0002 a0001c0001t0010 a0001c0001t0012 a0001c0002t0002	a0001c0001t0010g0096 a0001c0001t0010g0097 a0001c0001t0012g0098 others(1): Show a0001c0001t0010g0096 a0001c0001t0010g0097 a0001c0001t0012g0098 a0001c0002t0002g0091	4	331	0.0121	40	c.71- others(53): Show c.71-261_71-260insAGGGGGCAGGTGAGGGAGAACAGGTGAGGGGG GCAGGTGA	CST7	ENSG00000077984.6	transcript	ENST00000480798.2	protein_coding	1/3			chr20	TogoVar

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