Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CAPN11_chr6_44153820_44189401	44181441	C C	CATACAGA others(168): Show CATACAGACACAACCACACCACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACTCACATACAGACACA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0089 a0003c0003t0002g0089	1	460	0.0022	175	c.193 others(192): Show c.1938+122_1938+123insTACAGACACAACCACACCACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACTCACATACAGACACAA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735937	G G	GGGGGCGG others(168): Show GGGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCGG GGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCG GGGCGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG GCGGGGCGGGGCGGGGCGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0038 a0003c0005t0004g0038	1	342	0.0029	175	c.158 others(192): Show c.1583+172_1583+173insGCCCCGCCCGCCCCGCCCCGCCCCGCCC GCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCGCCCCG CCCCGCCCGCCCCGCCCCGCCCCGCCCGCCCCGCCCGCCCCGCCCGCCCC GCCCGCCCCGCCCGCCCCGCCCCGCCCGCCCCGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735937	G G	GGGGGCGG others(168): Show GGGGGCGGGGCGGGGCGGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCG GGGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGGCGGGGC GGGCGGGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGGCGG GCGGGGCGGGGCGGGGCGGGCGGGGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0027 a0003c0005t0004g0027	1	342	0.0029	175	c.158 others(192): Show c.1583+172_1583+173insACCCCGCCCGCCCCGCCCCGCCCCGCCC GCCCCGCCCCGCCCCGCCCCGCCCGCCCCGCCCGCCCCGCCCCCGCCCGC CCCGCCCCGCCCCGCCCGCCCCGCCCGCCCCGCCCGCCCCGCCCGCCCCG CCCGCCCCGCCCGCCCCGCCCCGCCCGCCCCCGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CCDC141_chr2_178824757_179055137	179015551	C C	CATATATC others(168): Show CATATATCTCATATATATGATATATATCTCATATATCTCATATATATGAT ATATATATCTCATATATCTCATATATATAATATATATATCTCATATATCT CATATATATGATATATATCTCATATATCTCATATATATGATATATATATC TCATATATATGATATATATATCTCAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0227 a0002c0003t0016g0227	1	274	0.0037	175	c.225 others(194): Show c.225+31732_225+31733insATGAGATATATATATCATATATATGA GATATATATATCATATATATGAGATATATGAGATATATATCATATATATG AGATATATGAGATATATATATTATATATATGAGATATATGAGATATATAT ATCATATATATGAGATATATGAGATATATATCATATATATGAGATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	179015551	C C	CATATATC others(168): Show CATATATCTCATATATATGATATATATCTCATATATCTCATATATATGAT ATATATCTCATATATCTCATATATATGATATATATATCTCATATATCTCA TATATATGATATATATATCTCATATATCTCATATATATGATATATATATC TCATATATATGATATATATATCTCAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0074 a0001c0001t0012g0074	1	274	0.0037	175	c.225 others(194): Show c.225+31732_225+31733insATGAGATATATATATCATATATATGA GATATATATATCATATATATGAGATATATGAGATATATATATCATATATA TGAGATATATGAGATATATATATCATATATATGAGATATATGAGATATAT ATCATATATATGAGATATATGAGATATATATCATATATATGAGATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(168): Show CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCTCCTCCCACCAC CCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTC CCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	410	0.0024	175	c.-22 others(186): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(168): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTGCCCTG CCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCCCTCCCCTCCCCTC CTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCTC CCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0113 a0001c0001t0010g0113	1	410	0.0024	175	c.-22 others(186): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGGAGGAGGAGGGGAG GGGAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC88A_chr2_55282842_55424856	55297340	T T	TTATATAT others(168): Show TTATATATTATATATAATATATATTATATATATTATATATAAATATATAT AATATATATTATATATAATATATATAATATATATTATATATAATATATAT TATATATAAATATATATAATATATATTATATATAATATATATTATATATA ATATATATAATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0200 a0001c0001t0015g0200	1	316	0.0032	175	c.482 others(192): Show c.4826-818_4826-817insTTATATATAATATATATTATATATATTA TATATAATATATATTATATATAATATATATTATATATATTTATATATAAT ATATATTATATATAATATATATTATATATATTATATATAATATATATTAT ATATATTTATATATAATATATATAATATATATTATATATAATATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(168): Show TTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTAT TTAAATACTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG03486.hp1 HG02055.hp1 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0002g0100 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0002g0100	3	384	0.0078	175	c.125 others(192): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATACTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATT TAAATAGTATTTAAATACTATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(168): Show TTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAA TAGTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAATAGTAT TTAAATACTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAAT ACTATTTAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	384	0.0026	175	c.125 others(192): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAATAGTATTTAAATACTATTTAAATACTATT TAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(168): Show TTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTAT TTAAATAGTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAAT ACTATTTAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	384	0.0026	175	c.125 others(192): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAAT ACTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAATACTATT TAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(168): Show TTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTAT TTAAATAGTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAAT ACTATTTAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	384	0.0026	175	c.125 others(192): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAAT AGTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATT TAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(168): Show TTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTAT TTAAATACTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAAT ACTATTTAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	384	0.0026	175	c.125 others(192): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATT TAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CTCCTTCC others(168): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTC TTCTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	424	0.0024	175	c.774 others(190): Show c.774+864_774+865insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TTCTTTCTTTCTTTCTTTCTTCTCTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6			chr17	TogoVar
CDC34_chr19_526760_547087	534852	C C	CCCCCGAG others(168): Show CCCCCGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCG AGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCC CTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCGCCCT GTCCAGACCTCGCCCACAATCCAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	328	0.0031	175	c.178 others(190): Show c.178-981_178-980insGAGTGCCCTCCCTGTCCAGACCTCGCCCAC GATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCA AGACCCCCGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCC CCGAGTGCCCGCCCTGTCCAGACCTCGCCCACAATCCAAGACCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERK_chr22_46679410_46743252	46680586	C C	CCATCCAC others(168): Show CCATCCACCCACCCACCCACCCATTCATCAATCCATCCGTCCTTCCATCC ATCCATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACCCAC CCATCCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCCATCC ATCCATCCATCCACCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0231 a0001c0001t0012g0231	1	340	0.0029	175	c.65 others(186): Show c.6547_*6548insAATGGGTGGGTGGTGGATGGATGGATGGATGGGT GGATGGATGGATGGACGGATGGATTGATGGATGGATGGATGGGTGGGTAG GTGGATGGATGGATGAATGGGTGGATGGGTGGGTGGATGGATGGATGGAA GGACGGATGGATTGATGAATGGGTGGGTGGGTGGGTGGATG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3823		chr22	TogoVar
CFAP46_chr10_132803392_132947570	132864622	T T	TTGCACAC others(168): Show TTGCACACACCTGTCCCCCTGCCTGAGACCTGCACACACCTGTCCCCAAT GCCCAAGACCTGCACACACCTGTCCCCCGCCTGAGACCTGCACACACCTG TCCCCAGTGCCCGAGACCTGCACACACCTGTCCCCCACCTGAGACCTGCA CACACCTGTCCCCAGTGCCCGAGACC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0012 a0072 a0012 a0072	a0012c0076 a0072c0075 a0012c0076 a0072c0075	a0012c0076t0001 a0072c0075t0001 a0012c0076t0001 a0072c0075t0001	a0012c0076t0001g0131 a0072c0075t0001g0235 a0012c0076t0001g0131 a0072c0075t0001g0235	2	246	0.0081	175	c.489 others(194): Show c.4890+1402_4890+1403insGGTCTCGGGCACTGGGGACAGGTGTG TGCAGGTCTCAGGTGGGGGACAGGTGTGTGCAGGTCTCGGGCACTGGGGA CAGGTGTGTGCAGGTCTCAGGCGGGGGACAGGTGTGTGCAGGTCTTGGGC ATTGGGGACAGGTGTGTGCAGGTCTCAGGCAGGGGGACAGGTGTGTGCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	35/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132864622	T T	TTGCACAC others(168): Show TTGCACACACCTGTCCCCCTGCCTGAGACCTGCACACACCTGTCCCCAAT GCCCGAGACCTGCACACACCTGTCCCCCGCCTGAGACCTGCACACACCTG TCCCCAGTGCCCGAGACCTGCACACACCTGTCCCCCACCTGAGACCTGCA CACACCTGTCCCCAGTGCCCGAGACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(92): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02809.hp2 HG02886.hp1 HG03017.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19090.hp2 NA20805.hp1 NA20905.hp1	a0002 a0003 a0004 others(20): Show a0002 a0003 a0004 a0005 a0010 a0012 a0016 a0025 a0030 a0031 a0033 a0036 a0038 a0040 a0042 a0044 a0047 a0052 a0061 a0064 a0065 a0067 a0070	a0002c0002 a0002c0003 a0002c0023 others(31): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0003c0007 a0003c0012 a0003c0080 a0004c0005 a0004c0019 a0004c0038 a0004c0052 a0005c0013 a0010c0011 a0010c0072 a0012c0025 a0016c0031 a0016c0095 a0025c0033 a0030c0066 a0031c0065 a0033c0048 a0036c0051 a0038c0037 a0040c0050 a0042c0053 a0044c0055 a0047c0035 a0052c0067 a0061c0092 a0064c0101 a0065c0102 a0067c0069 a0070c0074	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(33): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0080t0002 a0004c0005t0001 a0004c0005t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0005c0013t0001 a0010c0011t0001 a0010c0072t0002 a0012c0025t0002 a0016c0031t0002 a0016c0095t0002 a0025c0033t0001 a0025c0033t0003 a0030c0066t0001 a0031c0065t0001 a0033c0048t0001 a0036c0051t0001 a0038c0037t0001 a0040c0050t0001 a0042c0053t0001 a0044c0055t0001 a0047c0035t0001 a0052c0067t0002 a0061c0092t0001 a0064c0101t0002 a0065c0102t0002 a0067c0069t0002 a0070c0074t0002	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 others(91): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0003c0007t0002g0056 a0003c0007t0002g0057 a0003c0007t0002g0058 a0003c0007t0002g0059 a0003c0007t0002g0060 a0003c0007t0002g0062 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0080t0002g0074 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0010c0072t0002g0004 a0012c0025t0002g0007 a0012c0025t0002g0014 a0016c0031t0002g0030 a0016c0031t0002g0072 a0016c0095t0002g0114 a0025c0033t0001g0238 a0025c0033t0003g0237 a0030c0066t0001g0231 a0031c0065t0001g0232 a0033c0048t0001g0224 a0036c0051t0001g0180 a0038c0037t0001g0230 a0040c0050t0001g0178 a0042c0053t0001g0191 a0044c0055t0001g0183 a0047c0035t0001g0161 a0052c0067t0002g0013 a0061c0092t0001g0125 a0064c0101t0002g0022 a0065c0102t0002g0018 a0067c0069t0002g0015 a0070c0074t0002g0006	95	246	0.3862	175	c.489 others(194): Show c.4890+1402_4890+1403insGGTCTCGGGCACTGGGGACAGGTGTG TGCAGGTCTCAGGTGGGGGACAGGTGTGTGCAGGTCTCGGGCACTGGGGA CAGGTGTGTGCAGGTCTCAGGCGGGGGACAGGTGTGTGCAGGTCTCGGGC ATTGGGGACAGGTGTGTGCAGGTCTCAGGCAGGGGGACAGGTGTGTGCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	35/57			chr10	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGGGAG others(168): Show GAGGGGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGG GGAGGGGGGGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGGG GAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGAGAAGA GGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	384	0.0026	175	c.319 others(192): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCCCCTCCCC TCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CLDN8_chr21_30209006_30221097	30210363	T T	TATATATA others(168): Show TATATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAG GTATATATATATATATATATAGTCTCCCTAATTGTAATTCAAGGTACGTA TGTATATATATATATATATATATATATATATATATATATATATATATATA GTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0000 a0002c0002t0015g0000	1	466	0.0022	175	c.48 others(186): Show c.4884_*4885insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATATATATATATATATATATATATATACATACGTACC TTGAATTACAATTAGGGAGACTATATATATATATATATATACCTTGAATT AGAATTAGGGAGACTATATATATATATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3642		chr21	TogoVar
CLPTM1L_chr5_1312752_1350099	1333458	T T	TGAGGATA others(168): Show TGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGG ACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACA CCGGATGAGGACAAGCGGGAACTACTGTATACACACCGGAAGAGGATAAG GGGGGACTACTGTATACACACCGCAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02486.hp1 others(12): Show HG01891.hp1 HG02109.hp1 HG02486.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03516.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0322 a0001c0001t0001g0327 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0002t0001g0018 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341	15	370	0.0405	175	c.891 others(190): Show c.891+830_891+831insTTGCGGTGTGTATACAGTAGTCCCCCCTTA TCCTCTTCCGGTGTGTATACAGTAGTTCCCGCTTGTCCTCATCCGGTGTG TCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333643	G G	GACTACTG others(168): Show GACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACAC ACGGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAA GGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTA GACACACCGGATGAGGACAAGCGGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	370	0.0027	175	c.891 others(190): Show c.891+645_891+646insTCCCGCTTGTCCTCATCCGGTGTGTCTACA GTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTAT CCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGT ATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(168): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGACAAG CGGGAACTACTGTATACACACCGGAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02809.hp2 others(2): Show HG01109.hp2 HG02280.hp2 HG02809.hp2 HG03540.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0167 others(2): Show a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0167 a0001c0001t0006g0347 a0001c0001t0006g0348	5	370	0.0135	175	c.891 others(190): Show c.891+624_891+625insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCC CCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(168): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCGGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGACAAG CGGGAACTACTGTATACACACCGGAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	370	0.0027	175	c.891 others(190): Show c.891+624_891+625insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCC CCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNBD1_chr8_86861415_87387859	87136840	A A	AAATATAA others(168): Show AAATATAAATATATATATTTATATTAAATATAAATATATATATTTATATT ATATATAAATATATATATTTATATTATATATAAATATATATATTTATATT ATATATAAATATATATATTTATATTAAATATAAATATATATATTTATATT CTATATAAATTATATAATTTATATTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03195.hp1 HG03540.hp2 others(2): Show HG01167.hp2 HG03195.hp1 HG03540.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0003 a0001c0001 a0002c0005 a0004c0003	a0001c0001t0001 a0002c0005t0001 a0004c0003t0002 a0001c0001t0001 a0002c0005t0001 a0004c0003t0002	a0001c0001t0001g0039 a0002c0005t0001g0082 a0002c0005t0001g0084 others(2): Show a0001c0001t0001g0039 a0002c0005t0001g0082 a0002c0005t0001g0084 a0002c0005t0001g0086 a0004c0003t0002g0007	5	152	0.0329	175	c.432 others(194): Show c.432-69153_432-69152insAATATAAATATATATATTTATATTAA ATATAAATATATATATTTATATTATATATAAATATATATATTTATATTAT ATATAAATATATATATTTATATTATATATAAATATATATATTTATATTAA ATATAAATATATATATTTATATTCTATATAAATTATATAATTTATATTC	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10			chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136869	A A	AAATATAA others(168): Show AAATATAAATATATATATTTATATTAAATATAAATATATATATTTATATT ATATATAAATATATATATTTATATTTAATATAAATATATATATTTATATT CTATATAAATATATATATTTATATTCTATATAAATATATATATTTATATT CTATATAAATTATATAATTTATATTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	152	0.0066	175	c.432 others(194): Show c.432-69124_432-69123insAATATAAATATATATATTTATATTAA ATATAAATATATATATTTATATTATATATAAATATATATATTTATATTTA ATATAAATATATATATTTATATTCTATATAAATATATATATTTATATTCT ATATAAATATATATATTTATATTCTATATAAATTATATAATTTATATTC	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10			chr8	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAAGAAA others(168): Show GAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAGAAAGAAAAGA AAGAAAGAGGGAAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0173 a0003c0003t0004g0173	1	268	0.0037	175	c.-46 others(194): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAAGGAA others(168): Show GAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAGAAAGAAAAGA AAGAAAGAGGGAAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	268	0.0037	175	c.-46 others(194): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899946	G G	GGAAGGAA others(168): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGGAAGAAGGAAGAGGAAGAAGGAAAGAAGGAAAGAAGGAAAGAA AGAAGAAAGAAAGAAGAAAGAAAGAAAAAAAAGAAAGAAAAGAAAGAAAG AGGAAGGAAGGAAAAGAGAAGAGAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	268	0.0037	175	c.-46 others(194): Show c.-46+13299_-46+13300insTTTCTCTTCTCTTTTCCTTCCTTCCT CTTTCTTTCTTTTCTTTCTTTTTTTTCTTTCTTTCTTCTTTCTTTCTTCT TTCTTTCCTTCTTTCCTTCTTTCCTTCTTCCTCTTCCTTCTTCCTTCTTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL6A1_chr21_45976770_46010048	45990459	A A	AGGAGGGA others(168): Show AGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA GGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTG GACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTG ACCAGGGGAAGGACGGGGAGGGACGG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	128	0.0078	175	c.100 others(190): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAA GGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGG GGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGG ACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COPS3_chr17_17241616_17286246	17252362	A A	AGGGTACA others(168): Show AGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCCTGGGTACAGATAACG CTTTGGTGTGTGGGCTGTCCAGGGTACAGATAACACTTTGGTGTGTGGGC TGTCCTGGGTACAGATAACGCTTTGGTGTGTGGGCTCTCCTGGGTACAGA TAACGCTTTGGTGTGTGGGCTGTCCT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	352	0.0028	175	c.102 others(194): Show c.1023+2496_1023+2497insAGGACAGCCCACACACCAAAGCGTTA TCTGTACCCAGGAGAGCCCACACACCAAAGCGTTATCTGTACCCAGGACA GCCCACACACCAAAGTGTTATCTGTACCCTGGACAGCCCACACACCAAAG CGTTATCTGTACCCAGGACAGCCCACACACCAAAGCGTTATCTGTACCC	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	9/11			chr17	TogoVar
COPS3_chr17_17241616_17286246	17252362	A A	AGGGTACA others(168): Show AGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCCTGGGTACAGATAACG CTTTGGTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGC TGTCCTGGGTACAGATAACGCTTTGGTGTGTGGGCTCTCCTGGGTACAGA TAACGCTTTGGTGTGTGGGCTGTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(55): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01952.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03490.hp1 HG03927.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18953.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18974.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19009.hp1 NA19058.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19081.hp2 NA19085.hp1 NA19090.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(43): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096	58	352	0.1648	175	c.102 others(194): Show c.1023+2496_1023+2497insAGGACAGCCCACACACCAAAGCGTTA TCTGTACCCAGGAGAGCCCACACACCAAAGCGTTATCTGTACCCAGGACA GCCCACACACCAAAGCGTTATCTGTACCCTGGACAGCCCACACACCAAAG CGTTATCTGTACCCAGGACAGCCCACACACCAAAGCGTTATCTGTACCC	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	9/11			chr17	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(168): Show GCCCCGCCCATCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCTCCCTGCCC CCTCAGTCTGTGGCCCCGCCCCGCCCCGCCCCCTCAGTCCGTGACCCCGC CCCCTCCACACCGGGACCCGCCCCCCGCCCACCCGGAGGAGGAACCAGGC CAGATACCTGGAGTCCCCCCCGCCGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 NA18942.hp2 others(3): Show HG00609.hp2 HG00642.hp2 NA18942.hp2 NA18952.hp1 NA18959.hp2 NA18998.hp2	a0002 a0011 a0002 a0011	a0002c0003 a0002c0017 a0011c0016 a0002c0003 a0002c0017 a0011c0016	a0002c0003t0003 a0002c0017t0003 a0011c0016t0003 a0002c0003t0003 a0002c0017t0003 a0011c0016t0003	a0002c0003t0003g0113 a0002c0003t0003g0114 a0002c0003t0003g0135 others(3): Show a0002c0003t0003g0113 a0002c0003t0003g0114 a0002c0003t0003g0135 a0002c0003t0003g0137 a0002c0017t0003g0136 a0011c0016t0003g0112	6	348	0.0172	175	c.927 others(190): Show c.927+236_927+237insATCCCCGCCCCCTCAGTCCGTGGCCCCGCC CCTCCCTGCCCCCTCAGTCTGTGGCCCCGCCCCGCCCCGCCCCCTCAGTC CGTGACCCCGCCCCCTCCACACCGGGACCCGCCCCCCGCCCACCCGGAGG AGGAACCAGGCCAGATACCTGGAGTCCCCCCCGCCGCCCCCGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF1_chr8_144388231_144414335	144398288	C C	CCTCCCCA others(168): Show CCTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGC CCAGGGCCCAACCACCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCCC AGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCACCTACCTCCTTCCA GCAGGCAGATGCCCAGGGCCCAACCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	350	0.0029	175	c.189 others(190): Show c.1894+13_1894+14insTGGTTGGGCCCTGGGCATCTGCCTGCTGGA AGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGTTGGGCCCTGGGC ATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTGGGCCCTGGGCAT CCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGTGGGGAG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CPSF1_chr8_144388231_144414335	144398288	C C	CCTCCCCA others(168): Show CCTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGC CCAGGGCCCAACCACCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCCC AGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCACCTACCTCCTTCCA GCAGGCGGATGCCCAGGGCCCAACCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(125): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18940.hp1 NA18947.hp2 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0011 a0013	a0001c0001 a0001c0008 a0001c0009 others(10): Show a0001c0001 a0001c0008 a0001c0009 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0001c0032 a0002c0004 a0006c0012 a0007c0020 a0011c0017 a0013c0022	a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 others(10): Show a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 a0001c0016t0001 a0001c0018t0001 a0001c0019t0001 a0001c0021t0001 a0001c0032t0001 a0002c0004t0001 a0006c0012t0001 a0007c0020t0001 a0011c0017t0001 a0013c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0008t0001g0133 a0001c0008t0001g0134 a0001c0009t0001g0047 a0001c0009t0001g0050 a0001c0016t0001g0148 a0001c0018t0001g0062 a0001c0019t0001g0149 a0001c0021t0001g0039 a0001c0032t0001g0153 a0002c0004t0001g0028 a0002c0004t0001g0122 a0006c0012t0001g0160 a0007c0020t0001g0048 a0011c0017t0001g0115 a0013c0022t0001g0116	128	350	0.3657	175	c.189 others(190): Show c.1894+13_1894+14insTGGTTGGGCCCTGGGCATCCGCCTGCTGGA AGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGTTGGGCCCTGGGC ATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTGGGCCCTGGGCAT CCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGTGGGGAG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CPSF1_chr8_144388231_144414335	144398288	C C	CCTCCCCA others(168): Show CCTCCCCACCACCGTTCCCACCCACCTACCTCCTTCCAGCAGGCGGATGC CCAGGGCCCAACCACCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCCC AGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCACCTACCTCCTTCCA GCAGGCGGATGCCCAGGGCCCAACCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	350	0.0029	175	c.189 others(190): Show c.1894+13_1894+14insTGGTTGGGCCCTGGGCATCCGCCTGCTGGA AGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGTTGGGCCCTGGGC ATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTGGGCCCTGGGCAT CCGCCTGCTGGAAGGAGGTAGGTGGGTGGGAACGGTGGTGGGGAG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461481	A A	AGGACCTA others(168): Show AGGACCTATCCACACAGCAGCCACATTCACCATGGGGGCTGTATCCGCAC AGCACACACATTCACCGTGGAGGGCGTATCCGCACAGCGGCCACATTCAC CATGGAGGGCCTATCCACACAGCGGCCACATTCACCATGGGGGGCGTATC CGCACAGCGGCCACATTCACCATGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	238	0.0042	175	c.635 others(192): Show c.635-2840_635-2839insCCCATGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGTGGATAGGCCCTCCATGGT GAATGTGGCCGCTGTGCGGATACGCCCTCCACGGTGAATGTGTGTGCTGT GCGGATACAGCCCCCATGGTGAATGTGGCTGCTGTGTGGATAGGTCC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461499	A A	AGCCACAT others(168): Show AGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCAT GGAGGGCCTATCCGCACAGCAGCCACATTCACCATGGAGGGCCTATCCGC ACAGCGGCCACATTCACCATGGGGGGCGTATCCACACAGCGGCCACATTC ACCATGGGGGGCGTATCCGCACAGCG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp2 HG03471.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0078 a0002c0003t0020g0101 a0002c0003t0020g0078 a0002c0003t0020g0101	2	238	0.0084	175	c.635 others(192): Show c.635-2858_635-2857insCGCTGTGCGGATACGCCCCCCATGGTGA ATGTGGCCGCTGTGTGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGC GGATAGGCCCTCCATGGTGAATGTGGCTGCTGTGCGGATAGGCCCTCCAT GGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CST8_chr20_23486117_23501010	23490304	A A	AAATATAA others(168): Show AAATATAACAAAATATAATACTTATATATATATTAATTAATATATATAAT ATATATATAAATTATCTATATATTAATTATATATATAAAAATATATATAA AATTATATATATAAAATATATATAATTTATATATATAAATTATATATAAA ATATATATAATTATATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	440	0.0023	175	c.-11 others(186): Show c.-1182_-1181insAATATAACAAAATATAATACTTATATATATATTA ATTAATATATATAATATATATATAAATTATCTATATATTAATTATATATA TAAAAATATATATAAAATTATATATATAAAATATATATAATTTATATATA TAAATTATATATAAAATATATATAATTATATATATATAAAT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		812		chr20	TogoVar
CTBP1_chr4_1206445_1254130	1237641	C C	CGTGTCCA others(168): Show CGTGTCCACCTCCTGATGGGGCTCAGGACAAACCCCGTGTCCACCTCCTG ATGGGGCTCAGGACAAACCCCGTGTCCACCTCCTGATGGGGCTCAGGGAA AACCCCGTGTCCACCTCCTGATGGGGCTCAGGACAAACCCCGTGTCCACC TCCTGATGGGGCACAGGGCAAAACGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	422	0.0024	175	c.162 others(190): Show c.162+367_162+541dupTCGTTTTGCCCTGTGCCCCATCAGGAGGTG GACACGGGGTTTGTCCTGAGCCCCATCAGGAGGTGGACACGGGGTTTTCC CTGAGCCCCATCAGGAGGTGGACACGGGGTTTGTCCTGAGCCCCATCAGG AGGTGGACACGGGGTTTGTCCTGAGCCCCATCAGGAGGTGGACAC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTSS_chr1_150725188_150770778	150743643	A A	ATATATGT others(168): Show ATATATGTATATTATGTATACATAATATATTATATATGTATATTATGTAT ACATAATATATTATATATTATATGTATATTATGTATACATAATATATTAT ATATTATATGTATATTATGTATACATAATATATTATATATTATATGTATA TTATGTATACATAATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0039 a0002c0002t0004g0039	1	344	0.0029	175	c.896 others(192): Show c.896+4133_896+4134insATATATAATATATTATGTATACATAATA TACATATAATATATAATATATTATGTATACATAATATACATATAATATAT AATATATTATGTATACATAATATACATATAATATATAATATATTATGTAT ACATAATATACATATATAATATATTATGTATACATAATATACATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUX2_chr12_111029165_111355554	111325710	G G	GTTTTGTT others(168): Show GTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTG TTGGGGTGGGGGAGGGGTGGGTTTGTTTATCGTGTTGGGGTGGGGGAGGG GTGGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTAT AGTGTTGTGGTGGGGGAGGGGTGGGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG03579.hp2 others(1): Show HG02976.hp1 HG03098.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0011 a0001c0001 a0001c0007 a0001c0011	a0001c0001t0002 a0001c0007t0001 a0001c0011t0001 a0001c0001t0002 a0001c0007t0001 a0001c0011t0001	a0001c0001t0002g0016 a0001c0001t0002g0062 a0001c0007t0001g0021 others(1): Show a0001c0001t0002g0016 a0001c0001t0002g0062 a0001c0007t0001g0021 a0001c0011t0001g0001	4	100	0.0400	175	c.292 others(194): Show c.2926+3133_2926+3134insTGTTTATAGTGTTGTGGTGGGGGAGG GGTGGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTGTTTAT CGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGGGGTGGGG GAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(168): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCC TCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCC CCTCCCCTCCTCCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	292	0.0034	175	c.165 others(190): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGGG AGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGG AGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TTCTTTCT others(168): Show TTCTTTCTTTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTTCCTTC CTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTCTC TCTTTCTCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0085 a0001c0001t0036g0085	1	424	0.0024	175	c.918 others(190): Show c.918+556_918+557insCTTTCTTTCTCTCTTTCTTTCTTTCTCTTT CTTTCTTTCTTTTCCTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCT TTCTTCTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTTCCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(168): Show TATTATATAATATATATAATATATATATTATATATAATATATAATATATT ATATATATTATAAATTATATAATATATATAATATATATATTATATATAAT ATATTATATATTATATAATATATAATATATATAATATATAATATATTATA TATAATATATTATATATTATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03195.hp1 NA19043.hp1 HG02922.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0027 a0001c0001t0001g0155 a0001c0001t0001g0156	3	240	0.0125	175	c.36 others(186): Show c.3650_*3651insTATTATATAATATATAATATATTATATATAATAT ATTATATATTATATATATTATATATTATATAATATATAATATATTATATA TAATATATATATTATATATATTATATAATTTATAATATATATAATATATT ATATATTATATATAATATATATATTATATATATTATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(168): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0021 a0001c0002t0007g0021	1	380	0.0026	175	c.-11 others(186): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCBLD2_chr3_98790941_98906695	98837212	C C	CCCTCCCG others(168): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGCCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGCAGGGGGGCTGACCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0044 a0003c0006t0044	a0003c0006t0044g0158 a0003c0006t0044g0158	1	330	0.0030	175	c.572 others(194): Show c.572-11847_572-11846insTGGGGGGGGGTCAGCCCCCCTGCCCG GCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCT ACTGGGAAGTGAGGAGGCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCDC2C_chr2_3698575_3853008	3725406	A A	AGAGGGAG others(168): Show AGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAG GTGGATCCCGGAGGGAGATGAGCAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0060 a0001c0001t0009g0060	1	324	0.0031	175	c.340 others(192): Show c.340-1594_340-1593insGGAGGAGGCTGCCCGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGACCGCCAG AGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132135674	C C	CCCCGAGT others(168): Show CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC AGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCCAGTGCCCGCTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCACTCCTCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02683.hp1 HG01069.hp2 HG01071.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	334	0.0090	175	c.35 others(186): Show c.3597_*3598insAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGG GGAGGTGGGAGGAGCGGGCACTGGGGCACACTCGGGAGGTGGGAGGAGCG GGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACTGGGGCACA CTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		919		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149270	C C	CACCACAC others(168): Show CACCACACCCCAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0019 a0005c0007t0011g0019	1	334	0.0030	175	c.-49 others(186): Show c.-4975_-4974insAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGCGAGGCGGCGGCACTCACCGAGGGGATTGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4952		chr12	TogoVar

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