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
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0013 a0001c0003t0007g0013	1	20	0.0500	33	c.540 others(48): Show c.540+692_540+724dupCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121087665	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0052 a0005c0011t0001g0052	1	22	0.0455	33	c.617 others(52): Show c.617-10033_617-10032insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00621.hp2 others(1): Show HG00140.hp2 HG00544.hp1 HG00621.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0090 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0090 a0001c0001t0001g0118 a0001c0001t0001g0291	4	152	0.0263	33	c.308 others(50): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAGAAAGAAAGAA AAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587973	G G	GCCCCCCG others(26): Show GCCCCCCGTGTCACCCCGTGTCACCCCCATAGCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	311	0.0032	33	c.928 others(48): Show c.928-697_928-696insCGTGTCACCCCGTGTCACCCCCATAGCACC CCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38902393	G G	GAAAGAAA others(26): Show GAAAGAAAAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02129.hp1 HG00423.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0312 a0001c0001t0001g0083 a0001c0001t0001g0312	2	180	0.0111	33	c.98+ others(48): Show c.98+3043_98+3044insTTCTTTCTTTCTTTCTCTTTCTTTCTTTTC TTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902393	G G	GAAAGAAA others(26): Show GAAAGAAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA20805.hp2 HG01934.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0309 a0001c0002t0002g0310	2	180	0.0111	33	c.98+ others(48): Show c.98+3043_98+3044insTTCTTTCTTTCTTTCTTTCTCTTTCTTTTC TTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(26): Show CTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	18	0.0556	33	c.850 others(52): Show c.850-39354_850-39353insCTCTTCCTCTTCTTCTTCTTCTTCTT CTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97022965	A A	ATATATAT others(26): Show ATATATATATACTGTATATAGTATATATATACAG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01981.hp1 HG02040.hp2 others(6): Show HG01975.hp2 HG01981.hp1 HG02040.hp2 NA18964.hp2 NA18990.hp2 NA19005.hp1 NA19012.hp2 NA19057.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0080 others(6): Show a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103	9	124	0.0726	33	c.962 others(50): Show c.962-6425_962-6393dupGTATATAGTATATATATACAGTATATAT ATACT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97022978	G G	GTATACAG others(26): Show GTATACAGTATATATATACAGTATATATATACTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0090 a0007c0012t0001g0090	1	121	0.0083	33	c.962 others(50): Show c.962-6421_962-6420insCAGTATATATATACAGTATATATATACT ATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97022978	G G	GTATATAG others(26): Show GTATATAGTATATATATACAGTATATATATACTA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	121	0.0083	33	c.962 others(50): Show c.962-6396_962-6364dupTACTATATATAGTATATATATACAGTAT ATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97022978	G G	GTATATAG others(26): Show GTATATAGTATATATATACTGTATATATATACTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp1 HG01884.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0002g0085 a0002c0003t0001g0008 a0001c0002t0002g0085 a0002c0003t0001g0008	2	122	0.0164	33	c.962 others(50): Show c.962-6407_962-6406insTGTATATATATACTATATATAGTATATA TATAC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97023016	T T	TAGTATAT others(26): Show TAGTATATATATACAGTATATATATACTATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00733.hp1 others(27): Show HG00099.hp1 HG00099.hp2 HG00733.hp1 HG00733.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02273.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02970.hp1 HG03453.hp1 HG03579.hp2 HG03927.hp2 HG04184.hp2 NA19009.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0001c0008t0001 a0002c0003t0001 a0005c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 others(27): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0002g0068 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0018 a0001c0002t0001g0040 a0001c0002t0001g0081 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0002g0082 a0001c0007t0001g0038 a0001c0008t0001g0116 a0002c0003t0001g0052 a0002c0003t0001g0087 a0002c0003t0001g0118 a0005c0009t0001g0063	30	108	0.2778	33	c.962 others(50): Show c.962-6364_962-6363insTACTATATACAGTATATATATACAGTAT ATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97023016	T T	TAGTATAT others(26): Show TAGTATATATATACTGTATATATATACTATATAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19066.hp2 NA18949.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0071 a0001c0001t0001g0079	2	80	0.0250	33	c.962 others(50): Show c.962-6374_962-6373insTGTATATATATACTATATACAGTATATA TATAC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02486.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0196 a0001c0003t0002g0104 a0001c0001t0002g0196 a0001c0003t0002g0104	2	162	0.0123	33	c.103 others(50): Show c.103+1490_103+1491insATATATATATATATATATATATATTTTT TTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1C_chr19_49686116_49718731	49702051	T T	TATAAATA others(26): Show TATAAATAAATATATATTTATTTATAATTTATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	283	0.0035	33	c.693 others(48): Show c.693+424_693+425insAATATATATTTATTTATAATTTATAAATAA ATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPTP_chr1_1319802_1333896	1324762	C C	CGGGCGAG others(26): Show CGGGCGAGGGCTGGGCGAGGGCTGGGCGAGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0006	1	369	0.0027	33	c.-41 others(42): Show c.-416_-415insGGGCGAGGGCTGGGCGAGGGCTGGGCGAGGGCT	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		39		chr1	TogoVar
CRB1_chr1_197263252_197483455	197319259	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	46	0.0217	33	c.71- others(48): Show c.71-9144_71-9143insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197453904	T T	TTAATATA others(26): Show TTAATATATATTATTGATATTATTATATTATTAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0177 a0001c0002t0001g0061 a0001c0002t0001g0177	2	43	0.0465	33	c.400 others(54): Show c.4005+11678_4005+11710dupATAATATATATTATTGATATTATT ATATTATTA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CREB3L1_chr11_46272662_46326409	46274080	G G	GTGTAAAC others(26): Show GTGTAAACACCAGCTTGCACCCTCCTGGAGGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	302	0.0033	33	c.-40 others(44): Show c.-4032_-4031insTGTAAACACCAGCTTGCACCCTCCTGGAGGCTC	CREB3L1	ENSG00000157613.11	transcript	ENST00000621158.5	protein_coding		3581		chr11	TogoVar
CREB3L3_chr19_4148631_4178054	4172439	A A	AGACAGAC others(26): Show AGACAGACAGACAGACACAGCCTGAAACAGACCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0159 a0001c0001t0013g0159	1	368	0.0027	33	c.47 others(42): Show c.472_*504dupACAGACAGACAGACACAGCCTGAAACAGACCCG	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	10/10	505	INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB5_chr7_28407518_28830894	28712524	T T	TTTATTAT others(26): Show TTTATTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02647.hp1 HG02809.hp1 others(4): Show HG00738.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG03654.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 others(4): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0001t0032 a0001c0001t0036 a0001c0001t0049	a0001c0001t0004g0010 a0001c0001t0009g0181 a0001c0001t0012g0154 others(4): Show a0001c0001t0004g0010 a0001c0001t0009g0181 a0001c0001t0012g0154 a0001c0001t0021g0090 a0001c0001t0032g0180 a0001c0001t0036g0179 a0001c0001t0049g0076	7	108	0.0648	33	c.465 others(50): Show c.465-6206_465-6205insATTATTATTATTATTATTATTATTATTA TTATT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28712524	T T	TTTTTTAT others(26): Show TTTTTTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01168.hp2 HG02698.hp1 others(1): Show HG00735.hp1 HG01168.hp2 HG02698.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0025	a0001c0001t0003g0186 a0001c0001t0006g0052 a0001c0001t0011g0003 others(1): Show a0001c0001t0003g0186 a0001c0001t0006g0052 a0001c0001t0011g0003 a0001c0001t0025g0080	4	105	0.0381	33	c.465 others(50): Show c.465-6227_465-6226insTTTATTATTATTATTATTATTATTATTA TTATT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3849452	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0273 a0001c0001t0005g0273	1	281	0.0036	33	c.798 others(48): Show c.798+812_798+844dupCACACACACACACACACACACACACACACA CAC	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBRF_chr5_173051352_173144284	173117579	C C	CTCCCTCC others(26): Show CTCCCTCCCTCCCCTCCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	158	0.0063	33	c.168 others(52): Show c.1681+5203_1681+5204insCTCCCTCCCCTCCCTCCTTCCTTCCT TCCTTCC	CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CREG2_chr2_101340550_101392503	101389906	T T	TAAGGGAG others(26): Show TAAGGGAGACATGAGACATCAATCAAAATACTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0048 a0001c0001t0022g0048	1	386	0.0026	33	c.-24 others(44): Show c.-2450_-2449insCAAGTATTTTGATTGATGTCTCATGTCTCCCTT	CREG2	ENSG00000175874.10	transcript	ENST00000324768.6	protein_coding		2404		chr2	TogoVar
CREG2_chr2_101340550_101392503	101389909	G G	GGGAGACA others(26): Show GGGAGACATGAGACATCAATCAAAATACTTGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00733.hp1 others(71): Show HG00099.hp2 HG00408.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01975.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02965.hp1 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18943.hp1 NA18949.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19055.hp1 NA19066.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0030 a0001c0001t0034 a0001c0001t0041 a0001c0001t0042 a0001c0001t0051 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0002c0002t0028 a0002c0002t0060	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0020 others(45): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0229 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0049 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0004g0003 a0001c0001t0004g0047 a0001c0001t0004g0216 a0001c0001t0015g0041 a0001c0001t0019g0043 a0001c0001t0022g0048 a0001c0001t0022g0253 a0001c0001t0030g0050 a0001c0001t0034g0124 a0001c0001t0041g0213 a0001c0001t0042g0138 a0001c0001t0051g0189 a0001c0001t0055g0262 a0001c0001t0056g0254 a0001c0001t0057g0270 a0001c0001t0058g0266 a0001c0001t0061g0271 a0002c0002t0028g0067 a0002c0002t0060g0242	74	385	0.1922	33	c.-24 others(44): Show c.-2453_-2452insTTACAAGTATTTTGATTGATGTCTCATGTCTCC	CREG2	ENSG00000175874.10	transcript	ENST00000324768.6	protein_coding		2407		chr2	TogoVar
CREM_chr10_35121846_35217953	35187176	T T	TATTTATA others(26): Show TATTTATATATTAATATATATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG02257.hp2 others(5): Show HG00738.hp2 HG01109.hp1 HG02257.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0108 a0001c0002t0004g0110 a0001c0002t0004g0111 others(5): Show a0001c0002t0004g0108 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0116 a0001c0002t0004g0117	8	291	0.0275	33	c.410 others(50): Show c.410-1024_410-1023insATTTATATATTAATATATATTATATATT ATATA	CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding	5/7			chr10	TogoVar
CREM_chr10_35121846_35217953	35214987	T T	TCTCCCCA others(26): Show TCTCCCCACACCCGGGCGTGTGGGATCCACAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03225.hp2 HG02280.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0039 a0001c0001t0007g0040	2	292	0.0068	33	c.35 others(44): Show c.3589_*3590insCTCCCCACACCCGGGCGTGTGGGATCCACAGCG	CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding		2035		chr10	TogoVar
CRKL_chr22_20912407_20958747	20927192	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02135.hp1 others(2): Show HG01257.hp1 HG01258.hp2 HG02135.hp1 NA18952.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012	a0001c0001t0003g0071 a0001c0001t0003g0092 a0001c0001t0010g0002 others(1): Show a0001c0001t0003g0071 a0001c0001t0003g0092 a0001c0001t0010g0002 a0001c0001t0012g0089	5	56	0.0893	33	c.312 others(50): Show c.312-6569_312-6568insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRLF2_chrX_1185490_1217649	1191312	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	164	0.0061	33	c.853 others(48): Show c.853-185_853-153dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	7/7			chrX	TogoVar
CRLF2_chrX_1185490_1217649	1204383	C C	CAAGCCCG others(26): Show CAAGCCCGGCTAATTATGTATTTTTAATAGAGAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0068 a0002c0004t0001g0068	1	165	0.0061	33	c.350 others(50): Show c.350-1881_350-1849dupATCTCTATTAAAAATACATAATTAGCCG GGCTT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	3/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240923837	C C	CCCCACAC others(26): Show CCCCACACTGACCCAGTCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp1 HG02559.hp2 HG03041.hp1	a0011 a0018 a0011 a0018	a0011c0042 a0018c0016 a0011c0042 a0018c0016	a0011c0042t0002 a0018c0016t0002 a0011c0042t0002 a0018c0016t0002	a0011c0042t0002g0268 a0018c0016t0002g0245 a0011c0042t0002g0268 a0018c0016t0002g0245	2	344	0.0058	33	c.488 others(50): Show c.488+1195_488+1196insACACTGACCCAGTCCCCACACTAACCCA GTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923855	C C	CCCCACAC others(26): Show CCCCACACTGACCCGGCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0006 a0002c0021t0006	a0002c0021t0006g0083 a0002c0021t0006g0086 a0002c0021t0006g0083 a0002c0021t0006g0086	2	339	0.0059	33	c.488 others(50): Show c.488+1213_488+1214insACACTGACCCGGCCCCCACACTAACCCA GTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924079	C C	CCCCCACA others(26): Show CCCCCACACTAACCCGGCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0203 a0010c0010t0001g0203	1	335	0.0030	33	c.488 others(50): Show c.488+1438_488+1439insACACTAACCCGGCCCCCACACTAACCCG GCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924185	C C	CCCCCACA others(26): Show CCCCCACACTAACCCGGCCCCCACACTGACCCGG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0003 a0010c0010t0003	a0010c0010t0003g0197 a0010c0010t0003g0197	1	287	0.0035	33	c.489 others(50): Show c.489-1535_489-1534insACACTAACCCGGCCCCCACACTGACCCG GCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924308	C C	CCCCACAC others(26): Show CCCCACACTGACCCAGCCCCCACACTAACCCTAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG01496.hp2 others(3): Show HG00735.hp2 HG01175.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02896.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0012 a0002c0033 others(1): Show a0001c0001 a0002c0012 a0002c0033 a0008c0008	a0001c0001t0004 a0002c0012t0002 a0002c0033t0002 others(1): Show a0001c0001t0004 a0002c0012t0002 a0002c0033t0002 a0008c0008t0002	a0001c0001t0004g0277 a0002c0012t0002g0284 a0002c0012t0002g0285 others(3): Show a0001c0001t0004g0277 a0002c0012t0002g0284 a0002c0012t0002g0285 a0002c0012t0002g0347 a0002c0033t0002g0283 a0008c0008t0002g0303	6	300	0.0200	33	c.489 others(50): Show c.489-1413_489-1412insACACTGACCCAGCCCCCACACTAACCCT AACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924567	C C	CCCCCACA others(26): Show CCCCCACACTAACCCAGCCCCCACACTGACCCGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG02080.hp1 others(9): Show HG00423.hp1 HG00621.hp1 HG02080.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 NA18960.hp1 NA18968.hp1 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19066.hp1	a0006 a0009 a0021 others(1): Show a0006 a0009 a0021 a0050	a0006c0006 a0009c0009 a0021c0018 others(1): Show a0006c0006 a0009c0009 a0021c0018 a0050c0040	a0006c0006t0003 a0006c0006t0009 a0009c0009t0001 others(4): Show a0006c0006t0003 a0006c0006t0009 a0009c0009t0001 a0009c0009t0002 a0021c0018t0001 a0021c0018t0003 a0050c0040t0001	a0006c0006t0003g0106 a0006c0006t0003g0112 a0006c0006t0003g0119 others(9): Show a0006c0006t0003g0106 a0006c0006t0003g0112 a0006c0006t0003g0119 a0006c0006t0009g0111 a0009c0009t0001g0074 a0009c0009t0001g0182 a0009c0009t0001g0206 a0009c0009t0001g0220 a0009c0009t0002g0002 a0021c0018t0001g0117 a0021c0018t0003g0070 a0050c0040t0001g0105	12	327	0.0367	33	c.489 others(50): Show c.489-1153_489-1152insACACTAACCCAGCCCCCACACTGACCCG GCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924567	C C	CCCCCACA others(26): Show CCCCCACACTAACCCGGCCCCCACACTAATCCGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0217 a0007c0007t0001g0217	1	316	0.0032	33	c.489 others(50): Show c.489-1153_489-1152insACACTAACCCGGCCCCCACACTAATCCG GCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924585	C C	CCCCCACA others(26): Show CCCCCACACTGACCCGGCCCCCACACTGACCCGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18522.hp1 HG06807.hp2 NA18522.hp1	a0051 a0052 a0051 a0052	a0051c0051 a0052c0053 a0051c0051 a0052c0053	a0051c0051t0001 a0052c0053t0001 a0051c0051t0001 a0052c0053t0001	a0051c0051t0001g0087 a0052c0053t0001g0085 a0051c0051t0001g0087 a0052c0053t0001g0085	2	348	0.0057	33	c.489 others(50): Show c.489-1135_489-1134insACACTGACCCGGCCCCCACACTGACCCG GCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924603	C C	CCCCCACA others(26): Show CCCCCACACTAACCCAGTCCCCACACTGACCCGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0115 a0006c0006t0003g0115	1	338	0.0030	33	c.489 others(50): Show c.489-1117_489-1116insACACTAACCCAGTCCCCACACTGACCCG GCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924638	C C	CCCCCACA others(26): Show CCCCCACACTAACCCGGCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0001 a0020c0026t0001	a0020c0026t0001g0031 a0020c0026t0001g0031	1	337	0.0030	33	c.489 others(50): Show c.489-1082_489-1081insACACTAACCCGGCCCCCACACTAACCCG GCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924657	C C	CCCCACAC others(26): Show CCCCACACTGACCCAGCCCCCACACTAACCCTAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01169.hp2 HG00099.hp1 HG01168.hp2 HG01169.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0002 a0008c0008t0002 a0002c0002t0002 a0008c0008t0002	a0002c0002t0002g0246 a0008c0008t0002g0269 a0008c0008t0002g0339 a0002c0002t0002g0246 a0008c0008t0002g0269 a0008c0008t0002g0339	3	312	0.0096	33	c.489 others(50): Show c.489-1064_489-1063insACACTGACCCAGCCCCCACACTAACCCT AACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647489	A A	ACACCTTG others(26): Show ACACCTTGTCCTCCTCCACACCCCTCCTCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0068 a0002c0002t0003g0068	1	273	0.0037	33	c.53 others(44): Show c.5349_*5350insCACCTTGTCCTCCTCCACACCCCTCCTCTGCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2145		chr15	TogoVar
CRYBG1_chr6_106355717_106577017	106361969	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19010.hp2 HG02258.hp1 NA19010.hp2	a0014 a0066 a0014 a0066	a0014c0018 a0066c0077 a0014c0018 a0066c0077	a0014c0018t0002 a0066c0077t0001 a0014c0018t0002 a0066c0077t0001	a0014c0018t0002g0205 a0066c0077t0001g0204 a0014c0018t0002g0205 a0066c0077t0001g0204	2	176	0.0114	33	c.173 others(48): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106361972	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0008 a0005c0006t0008	a0005c0006t0008g0175 a0005c0006t0008g0175	1	263	0.0038	33	c.173 others(48): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21			chr6	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(26): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	188	0.0053	33	c.17 others(44): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	3	0.3333	33	c.332 others(50): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSF1R_chr5_150048295_150091554	150084391	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0258 a0002c0003t0003g0258	1	403	0.0025	33	c.49+ others(48): Show c.49+1987_49+1988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSMD1_chr8_2930361_4999914	3926026	C C	CACACACA others(26): Show CACACACACACACACACACACACAAACACCATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18983.hp1 NA19060.hp1 HG01074.hp2 NA18983.hp1 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0001c0061 a0003c0056 a0001c0007 a0001c0061 a0003c0056	a0001c0007t0001 a0001c0061t0001 a0003c0056t0062 a0001c0007t0001 a0001c0061t0001 a0003c0056t0062	a0001c0007t0001g0035 a0001c0061t0001g0021 a0003c0056t0062g0072 a0001c0007t0001g0035 a0001c0061t0001g0021 a0003c0056t0062g0072	3	121	0.0248	33	c.818 others(52): Show c.818+71876_818+71877insATATGGTGTTTGTGTGTGTGTGTGTG TGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0011 a0012c0019t0011	a0012c0019t0011g0017 a0012c0019t0011g0017	1	38	0.0263	33	c.404 others(52): Show c.404+12048_404+12049insATATATATATATATTTTTTTTTTTTT TTTTTTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar

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