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
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0049 a0001c0001t0006g0050	2	95	0.0211	34	c.254 others(51): Show c.2540+474_2540+475insTATATATATAGAGAGAGAGAGAGAGAGA GAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORO1A_chr16_30178602_30194076	30190144	A A	ATATATAT others(27): Show ATATATATTTTAATATATAAATATATTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02145.hp1 HG02559.hp1 others(1): Show HG01943.hp1 HG02145.hp1 HG02559.hp1 NA18945.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0001 a0003c0006t0001 a0001c0002t0001 a0003c0006t0001	a0001c0002t0001g0001 a0003c0006t0001g0001 a0001c0002t0001g0001 a0003c0006t0001g0001	4	330	0.0121	34	c.11 others(45): Show c.1180_*1181insTATATATTTTAATATATAAATATATTATATATAT	CORO1A	ENSG00000102879.17	transcript	ENST00000219150.10	protein_coding		1069		chr16	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	113	0.0088	34	c.201 others(51): Show c.201+3130_201+3131insTATATATATATATATATATATATATATA TATACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154352	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0290	1	112	0.0089	34	c.201 others(51): Show c.201+3107_201+3108insGTATATATATATATATATATATATATAT ATATAT	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
COX19_chr7_959852_980549	964118	T T	TCCCCCCA others(27): Show TCCCCCCAAGAGCCTGCCGAGGCGGGAAACGGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp2 others(34): Show HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG02004.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 HG06807.hp2 NA18747.hp2 NA18955.hp1 NA19004.hp1 NA19010.hp1 NA19043.hp2 NA19054.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 others(6): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0038 a0001c0001t0080 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085	a0001c0001t0005g0005 a0001c0001t0005g0066 a0001c0001t0005g0144 others(18): Show a0001c0001t0005g0005 a0001c0001t0005g0066 a0001c0001t0005g0144 a0001c0001t0005g0158 a0001c0001t0009g0009 a0001c0001t0009g0141 a0001c0001t0009g0155 a0001c0001t0012g0074 a0001c0001t0012g0148 a0001c0001t0012g0153 a0001c0001t0012g0154 a0001c0001t0012g0156 a0001c0001t0018g0053 a0001c0001t0018g0054 a0001c0001t0018g0157 a0001c0001t0038g0145 a0001c0001t0038g0152 a0001c0001t0080g0149 a0001c0001t0083g0146 a0001c0001t0084g0150 a0001c0001t0085g0151	37	424	0.0873	34	c.52 others(45): Show c.5259_*5260insGAACCGTTTCCCGCCTCGGCAGGCTCTTGGGGGG	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		733		chr7	TogoVar
COX6A2_chr16_31422731_31433360	31427922	G G	GCGCCCCG others(27): Show GCGCCCCGCGCGCACCCCCCCCCCCGCAGCACCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	20	0.0500	34	c.211 others(47): Show c.211-66_211-65insGGGGTGCTGCGGGGGGGGGGGTGCGCGCGGGG CG	COX6A2	ENSG00000156885.6	transcript	ENST00000287490.5	protein_coding	2/2			chr16	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	73	0.0137	34	c.-49 others(53): Show c.-49-19486_-49-19485insTATATATATATATATATATATATATA TATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 NA18972.hp2 HG01069.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0111 a0002c0002t0002g0018 a0002c0002t0002g0111	2	44	0.0455	34	c.-31 others(45): Show c.-3149_-3148insTATATATATATATATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPD_chr17_30373927_30474989	30470256	C C	CACACGTG others(27): Show CACACGTGTGTGTATGTATATGTATATACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(124): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03239.hp2 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18965.hp1 NA18972.hp2 NA18974.hp2 NA18983.hp1 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0010	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0003c0016 a0003c0017 a0004c0007 a0007c0010 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0003t0001 a0001c0005t0001 a0001c0009t0001 a0003c0016t0001 a0003c0017t0016 a0004c0007t0001 a0007c0010t0001 a0010c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(119): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0204 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0074 a0001c0001t0004g0114 a0001c0001t0011g0087 a0001c0001t0011g0103 a0001c0001t0011g0120 a0001c0001t0013g0132 a0001c0001t0013g0133 a0001c0001t0022g0131 a0001c0001t0023g0085 a0001c0001t0024g0112 a0001c0001t0025g0044 a0001c0001t0027g0027 a0001c0003t0001g0007 a0001c0003t0001g0009 a0001c0003t0001g0040 a0001c0003t0001g0055 a0001c0003t0001g0138 a0001c0005t0001g0007 a0001c0005t0001g0008 a0001c0009t0001g0108 a0003c0016t0001g0053 a0003c0017t0016g0051 a0004c0007t0001g0125 a0007c0010t0001g0002 a0010c0012t0001g0077	127	279	0.4552	34	c.54 others(45): Show c.5442_*5443insACACGTGTGTGTATGTATATGTATATACATACAT	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding		268		chr17	TogoVar
CPED1_chr7_120983711_121302442	121087665	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0079 a0005c0012t0001g0079	1	22	0.0455	34	c.617 others(53): Show c.617-10033_617-10032insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121117077	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0007 a0002c0002t0005g0007	1	36	0.0278	34	c.919 others(51): Show c.919-7232_919-7231insTATAAATATATATATATATATATATATA TATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02071.hp1 HG01070.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0136 a0001c0001t0002g0288 a0001c0001t0001g0136 a0001c0001t0002g0288	2	150	0.0133	34	c.308 others(51): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAGAAAGAAAGA AAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPHXL_chr16_75709131_75731490	75722419	G G	GGGATATC others(27): Show GGGATATCATCACTGATCCCACAGAAATACAAACT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp1 HG01358.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	386	0.0052	34	c.25+ others(49): Show c.25+3965_26-3962dupAGTTTGTATTTCTGTGGGATCAGTGATGAT ATCC	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02074.hp2 NA18961.hp2 others(2): Show HG01081.hp1 HG02074.hp2 NA18961.hp2 NA18970.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015	a0001c0001t0002g0015 a0001c0001t0003g0010 a0001c0001t0003g0025 others(2): Show a0001c0001t0002g0015 a0001c0001t0003g0010 a0001c0001t0003g0025 a0001c0001t0008g0002 a0001c0001t0015g0002	5	303	0.0165	34	c.-38 others(43): Show c.-384_-383insGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01928.hp1 HG00280.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0038 a0001c0001t0003g0003 a0001c0001t0003g0038	2	64	0.0313	34	c.-36 others(43): Show c.-361_-360insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG02896.hp2 others(12): Show HG01884.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03490.hp1 NA18947.hp1 NA18963.hp1 NA18982.hp1 NA19006.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0002c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0056 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0056 a0001c0004t0005 a0001c0004t0021 a0002c0003t0006 a0002c0005t0012 a0002c0005t0015 a0002c0009t0002	a0001c0001t0001g0082 a0001c0001t0001g0163 a0001c0001t0001g0168 others(12): Show a0001c0001t0001g0082 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0002t0001g0094 a0001c0002t0056g0113 a0001c0004t0005g0151 a0001c0004t0021g0053 a0002c0003t0006g0027 a0002c0005t0012g0014 a0002c0005t0012g0018 a0002c0005t0012g0019 a0002c0005t0015g0007 a0002c0005t0015g0008 a0002c0009t0002g0030	15	180	0.0833	34	c.92 others(45): Show c.9240_*9241insTATATATATATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPNE4_chr3_131528569_132040014	131743962	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0094 a0001c0002t0011g0094	1	19	0.0526	34	c.181 others(53): Show c.181-20338_181-20337insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36744017	T T	TGGGGCCT others(27): Show TGGGGCCTCCTCCCCACAGCCTTGGGATGTGGGTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	378	0.0026	34	c.148 others(51): Show c.1489+217_1489+250dupCACCCACATCCCAAGGCTGTGGGGAGGA GGCCCC	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	19/20			chr6	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(27): Show GTATATATATGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01496.hp2 NA18975.hp1 others(6): Show HG00280.hp2 HG01496.hp2 NA18975.hp1 NA18979.hp1 NA18993.hp2 NA19006.hp1 NA19010.hp1 NA19065.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016	a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0055 others(6): Show a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0071 a0001c0002t0002g0294 a0001c0002t0008g0008 a0001c0002t0016g0081 a0001c0002t0016g0082	9	159	0.0566	34	c.915 others(51): Show c.915-1906_915-1905insTATATATATATATATATATATACACATA TATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717427	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0306 a0001c0001t0004g0306	1	212	0.0047	34	c.914 others(51): Show c.914+6344_914+6345insTATATATATATATATATATATATATATA TATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	135	0.0074	34	c.722 others(49): Show c.722+411_722+412insTATATATATATATATATATATATATATATA TACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902370	A A	AAAGAAAG others(27): Show AAAGAAAGAGAAAGAAAGAAAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0316 a0001c0002t0002g0316	1	321	0.0031	34	c.98+ others(49): Show c.98+3066_98+3067insCTTTCTTTTCTTTCTTTCTTTCTTTCTCTT TCTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902381	A A	AAAGAAAG others(27): Show AAAGAAAGAAAGAAAGAAAGAAAAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	247	0.0040	34	c.98+ others(49): Show c.98+3055_98+3056insCTTTCTCTTTCTTTTCTTTCTTTCTTTCTT TCTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPO_chr2_206934518_206974474	206943686	A A	AGATAGAT others(27): Show AGATAGATAGATAGATAGATAGATGATGGATAGAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	418	0.0024	34	c.68+ others(49): Show c.68+4042_68+4043insGATGGATAGATGATAGATAGATAGATAGAT AGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(27): Show TATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0087 a0004c0004t0009g0087	1	248	0.0040	34	c.289 others(53): Show c.289+14928_289+14929insCTCTCTCTCTCTCTCTCTATATATAT ATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(27): Show TATATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0051 a0004c0004t0051	a0004c0004t0051g0006 a0004c0004t0051g0006	1	248	0.0040	34	c.289 others(53): Show c.289+14928_289+14929insCTCTCTCTATATATATATATATATAT ATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0092 a0004c0004t0007g0092	1	248	0.0040	34	c.289 others(53): Show c.289+14928_289+14929insCTCTCTATATATATATATATATATAT ATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96737355	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03927.hp1 HG02004.hp2 HG03927.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0110 a0006c0010t0001g0045 a0001c0001t0001g0110 a0006c0010t0001g0045	2	54	0.0370	34	c.-34 others(53): Show c.-34-47495_-34-47494insATATATATATATATATATATATATAT ATATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92173344	T T	TACACACG others(27): Show TACACACGTATATATATATGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG02135.hp2 others(10): Show HG00438.hp1 HG00621.hp2 HG02135.hp2 HG02155.hp2 HG02698.hp1 HG03831.hp2 HG04199.hp1 NA18612.hp2 NA18953.hp1 NA18964.hp1 NA19057.hp1 NA19075.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0075 a0001c0001t0081	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0156 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0008g0037 a0001c0001t0008g0180 a0001c0001t0009g0003 a0001c0001t0009g0158 a0001c0001t0023g0003 a0001c0001t0038g0013 a0001c0001t0039g0003 a0001c0001t0075g0013 a0001c0001t0081g0013	13	356	0.0365	34	c.11 others(47): Show c.11600_*11601insACACACGTATATATATATGTATATATATATAT AC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1200		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173347	A A	ATATATAT others(27): Show ATATATATACATATATATATACGTATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0040 a0001c0001t0052g0040	1	384	0.0026	34	c.11 others(47): Show c.11603_*11604insTATATATACATATATATATACGTATATATATA CG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1203		chr14	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	161	0.0062	34	c.103 others(51): Show c.103+1490_103+1491insATATATATATATATATATATATATATTT TTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(27): Show ATATATATATATATATATATATATGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01069.hp2 others(9): Show HG00323.hp1 HG00639.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01123.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG03540.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0047 others(8): Show a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066	12	172	0.0698	34	c.103 others(51): Show c.103+1490_103+1491insATATATATATATATATATATATGTTTTT TTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0305 a0002c0002t0001g0305	1	77	0.0130	34	c.689 others(51): Show c.6890-563_6890-562insATATATATATATATATATATATATATAT ATGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18984.hp2 NA18944.hp2 NA18984.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0035 a0002c0002 a0004c0035	a0002c0002t0001 a0004c0035t0001 a0002c0002t0001 a0004c0035t0001	a0002c0002t0001g0208 a0004c0035t0001g0097 a0002c0002t0001g0208 a0004c0035t0001g0097	2	78	0.0256	34	c.689 others(51): Show c.6890-563_6890-562insATATATATATATATATATATATATATAT GTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp1 HG01167.hp2 others(1): Show HG00140.hp1 HG01167.hp1 HG01167.hp2 HG03239.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0009 a0004c0015 a0002c0002 a0004c0009 a0004c0015	a0002c0002t0001 a0002c0002t0002 a0004c0009t0002 others(1): Show a0002c0002t0001 a0002c0002t0002 a0004c0009t0002 a0004c0015t0002	a0002c0002t0001g0009 a0002c0002t0002g0011 a0004c0009t0002g0094 others(1): Show a0002c0002t0001g0009 a0002c0002t0002g0011 a0004c0009t0002g0094 a0004c0015t0002g0190	4	80	0.0500	34	c.689 others(51): Show c.6890-563_6890-562insATATATATATATATATATATATATATGT GTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0309 a0002c0002t0001g0309	1	77	0.0130	34	c.689 others(51): Show c.6890-563_6890-562insATATATATATATATATATATATATGTGT GTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458073	C C	CACACACA others(27): Show CACACACACACACACACACATACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	369	0.0027	34	c.58+ others(49): Show c.58+3616_58+3617insTACACACACACACATACACACACACACACA CACA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACR2A_chr12_3610328_3758109	3639457	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03834.hp2 HG02523.hp1 HG03834.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0195 a0009c0010t0001g0168 a0001c0001t0001g0195 a0009c0010t0001g0168	2	77	0.0260	34	c.127 others(53): Show c.1272-1004_1272-1003insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	13/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745825	T T	TAAAATAA others(27): Show TAAAATAAAATAAAATAAAATAAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0262	1	6	0.1667	34	c.-38 others(53): Show c.-387+7189_-387+7190insCTTTCTTTTCTTTTATTTTATTTTAT TTTATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745825	T T	TAAAATAA others(27): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01346.hp2 HG02622.hp2 others(3): Show HG01256.hp1 HG01346.hp2 HG02622.hp2 HG03471.hp1 HG04228.hp2 NA18906.hp2	a0001 a0004 a0030 a0001 a0004 a0030	a0001c0001 a0004c0004 a0030c0029 a0001c0001 a0004c0004 a0030c0029	a0001c0001t0001 a0004c0004t0001 a0030c0029t0001 a0001c0001t0001 a0004c0004t0001 a0030c0029t0001	a0001c0001t0001g0030 a0001c0001t0001g0170 a0001c0001t0001g0220 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0170 a0001c0001t0001g0220 a0001c0001t0001g0281 a0004c0004t0001g0104 a0030c0029t0001g0117	6	11	0.5455	34	c.-38 others(53): Show c.-387+7189_-387+7190insCTTTATTTTATTTTATTTTATTTTAT TTTATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CREB3L3_chr19_4148631_4178054	4172439	A A	AGACAGAC others(27): Show AGACAGACAGACAGACACAGCCTGAAACAGACCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp1 others(31): Show HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG02056.hp1 HG02074.hp2 HG02148.hp1 HG02735.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG04184.hp2 HG04204.hp1 NA18940.hp1 NA18969.hp1 NA18978.hp1 NA18993.hp1 NA18999.hp1 NA19054.hp2 NA19067.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0004 a0001c0003t0004 a0001c0009t0004 a0001c0001t0004 a0001c0003t0004 a0001c0009t0004	a0001c0001t0004g0022 a0001c0001t0004g0039 a0001c0001t0004g0040 others(26): Show a0001c0001t0004g0022 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0004g0081 a0001c0001t0004g0088 a0001c0001t0004g0098 a0001c0001t0004g0150 a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0195 a0001c0001t0004g0207 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0003t0004g0015 a0001c0003t0004g0124 a0001c0003t0004g0128 a0001c0003t0004g0129 a0001c0003t0004g0132 a0001c0003t0004g0137 a0001c0003t0004g0139 a0001c0009t0004g0039	34	401	0.0848	34	c.57 others(43): Show c.571_*604dupCGGACAGACAGACAGACACAGCCTGAAACAGACC	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	10/10	605	INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02523.hp1 HG02970.hp1 others(5): Show HG01168.hp2 HG02523.hp1 HG02970.hp1 HG03688.hp1 HG04204.hp1 HG04204.hp2 NA19000.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0033 a0001c0001t0045	a0001c0001t0001g0020 a0001c0001t0003g0186 a0001c0001t0005g0159 others(5): Show a0001c0001t0001g0020 a0001c0001t0003g0186 a0001c0001t0005g0159 a0001c0001t0017g0115 a0001c0001t0018g0108 a0001c0001t0027g0147 a0001c0001t0033g0068 a0001c0001t0045g0046	8	45	0.1778	34	c.4-1 others(47): Show c.4-1482_4-1481insATATATATATATATATATATATATATATATAT AT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560873	C C	CGCGTGCG others(27): Show CGCGTGCGTGTGTGCGCGTGCGTGTGTGCGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	176	0.0057	34	c.292 others(51): Show c.292-9483_292-9482insTGTGCGCGTGCGTGTGTGCGTGTGTGCG TGCGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560931	T T	TGTGCGTG others(27): Show TGTGCGTGCGTGTGCGTGCGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp2 NA19062.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0019 a0001c0001t0007g0075 a0001c0001t0001g0019 a0001c0001t0007g0075	2	179	0.0112	34	c.292 others(51): Show c.292-9431_292-9430insCGTGCGTGTGCGTGCGTGTGTGTGTGTG CGCGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560967	T T	TGCGTGCG others(27): Show TGCGTGCGTGCGCGTGCGTGTGTGCGCGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	170	0.0059	34	c.292 others(51): Show c.292-9397_292-9396insCGTGCGTGCGCGTGCGTGTGTGCGCGTG TGTGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560973	C C	CGCGTGCG others(27): Show CGCGTGCGCGTGCGTGCGCGTGCGTGTGTGCGCGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	171	0.0058	34	c.292 others(51): Show c.292-9391_292-9390insCGTGCGCGTGCGTGCGCGTGCGTGTGTG CGCGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28561025	C C	CGTGCGTG others(27): Show CGTGCGTGCGTGTGTGCGTGCGTGCGTGTGCGTGT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0115 a0001c0001t0017g0115	1	128	0.0078	34	c.292 others(51): Show c.292-9337_292-9336insCGTGCGTGTGTGCGTGCGTGCGTGTGCG TGTGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28775543	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0068 a0001c0001t0033g0068	1	56	0.0179	34	c.703 others(53): Show c.703-28634_703-28633insATATATATATATATATATATATATAT ATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRIP2_chr14_105469821_105485162	105472953	T T	TTCTGGCA others(27): Show TTCTGGCAGGGCTGGGGACCTTGGGGCAGGTGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	314	0.0032	34	c.-19 others(45): Show c.-1910_-1909insTCTGGCAGGGCTGGGGACCTTGGGGCAGGTGGTC	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding		1867		chr14	TogoVar
CRKL_chr22_20912407_20958747	20916635	A A	AAAAGAAA others(27): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0247 a0001c0001t0007g0247	1	153	0.0065	34	c.-13 others(45): Show c.-1300_-1299insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		771		chr22	TogoVar

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