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
CCDC171_chr9_15548043_15979037	15882992	G G	GCCTGCCT others(93): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	139	0.0072	100	c.360 others(119): Show c.3600+8332_3600+8333insGCCTGCCTGCCTGCCTGCCTGCCTGC CTGCCTGCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15882992	G G	GCCTGCCT others(93): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG00735.hp1 others(11): Show HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01106.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG02273.hp1 HG02970.hp1 HG03471.hp1 HG03516.hp2 HG04199.hp2 NA18993.hp1 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0003c0003t0001	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0169 others(11): Show a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0004g0148 a0001c0001t0004g0150 a0001c0001t0004g0192 a0001c0001t0010g0221 a0001c0001t0012g0211 a0003c0003t0001g0140	14	152	0.0921	100	c.360 others(119): Show c.3600+8332_3600+8333insGCCTGCCTGCCTGCCTGCCTGCCTGC CTGCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15882992	G G	GCCTGCCT others(93): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	139	0.0072	100	c.360 others(119): Show c.3600+8332_3600+8333insGCCTGCCTGCCTGCCTGCCTGCCTGC CTGCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC73_chr11_32597721_32799662	32755857	G G	GTATATAT others(93): Show GTATATATCTCCATATATATCTATATATATCTCCATATATATATCTATAT ATATATCTCCATATATATATCTATATATATATCTCCATATATATATCTAT A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01517.hp1 HG00738.hp2 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0162 a0001c0003t0001g0164 a0001c0003t0001g0162 a0001c0003t0001g0164	2	92	0.0217	100	c.135 others(117): Show c.135+4251_135+4252insTATAGATATATATATGGAGATATATATA TAGATATATATATGGAGATATATATATAGATATATATATGGAGATATATA TAGATATATATGGAGATATATA	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAATATA others(93): Show AAAATATATATATATATATATATATATATATATATACTCATATATATATA TATACTCATATATATATATATACTCATATATATATATATTCATATATATT C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02148.hp2 HG01975.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0269 a0001c0001t0001g0212 a0001c0001t0001g0269	2	219	0.0091	100	c.232 others(121): Show c.2326-11614_2326-11613insAATATATATATATATATATATATA TATATATATACTCATATATATATATATACTCATATATATATATATACTCA TATATATATATATTCATATATATTCA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AATATATA others(93): Show AATATATATATATATATATATATATATATATATACTCATATATATATATA TACTCATATATATATATATACTCATATATATATATATTCATATATATTCA T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0267 a0001c0001t0023g0267	1	218	0.0046	100	c.232 others(121): Show c.2326-11590_2326-11589insTATATATACTCATATATATATATA TACTCATATATATATATATACTCATATATATATATATTCATATATATTCA TATATATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AATATATA others(93): Show AATATATATATATATATATATATATATATATATATACTCATATATATATA TATACTCATATATATATATATACTCATATATATATATATTCATATATATT C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01928.hp1 HG02293.hp2 others(2): Show HG00621.hp2 HG01928.hp1 HG02293.hp2 NA18944.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0264 others(2): Show a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0264 a0001c0001t0001g0313 a0001c0001t0001g0314	5	222	0.0225	100	c.232 others(121): Show c.2326-11590_2326-11589insTATATATATACTCATATATATATA TATACTCATATATATATATATACTCATATATATATATATTCATATATATT CATATATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD36_chr7_80633642_80684274	80683384	A A	ATGTGTAT others(93): Show ATGTGTATATATGTATATATGTATATATACATATGTGTATATATGTATAT ATGTATATATACATATGTGTATATATGTATATATGTATATATACATATAT G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	384	0.0026	100	c.70 others(111): Show c.7001_*7002insTGTGTATATATGTATATATGTATATATACATATG TGTATATATGTATATATGTATATATACATATGTGTATATATGTATATATG TATATATACATATATG	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		4111		chr7	TogoVar
CDC73_chr1_193117031_193259815	193162213	T T	TTATATAT others(93): Show TTATATATTTATTATATTGTATATAATATATATTATATATTATCTATTAT ATTGTATATAATATATATTATATATTATCTATTATATTGTATATAATATA A	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18998.hp1 NA19003.hp1 others(2): Show HG01109.hp2 NA18998.hp1 NA19003.hp1 NA19067.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0162 a0001c0001t0001g0164 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0230	5	193	0.0259	100	c.972 others(117): Show c.972+9777_972+9778insTATTATATTGTATATAATATATATTATA TATTATCTATTATATTGTATATAATATATATTATATATTATCTATTATAT TGTATATAATATAATATATATT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH4_chr20_61247261_61945617	61714023	T T	TTTATGTT others(93): Show TTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT GTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0103 a0002c0005t0005g0103	1	92	0.0109	100	c.170 others(119): Show c.170-29536_170-29535insGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61723936	A A	AGGTCCCC others(93): Show AGGTCCCCATGCAGGGGGCACAGGATGGAGGCTCCATGTGGCAGGGGGGT AGGTCCCCATGCAGGGGGCACAGGATGGAGGCTCCATGTGGCAGGGGGGT G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02148.hp2 HG02451.hp2 others(15): Show HG02145.hp1 HG02148.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0012 a0001c0023 a0002c0004 a0003c0018	a0001c0001t0001 a0001c0001t0015 a0001c0001t0017 others(13): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0017 a0001c0001t0028 a0001c0003t0001 a0001c0003t0038 a0001c0003t0040 a0001c0003t0041 a0001c0006t0045 a0001c0007t0009 a0001c0012t0001 a0001c0023t0042 a0002c0004t0001 a0002c0004t0012 a0002c0004t0033 a0003c0018t0043	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0015g0083 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0015g0083 a0001c0001t0017g0039 a0001c0001t0028g0092 a0001c0003t0001g0015 a0001c0003t0001g0037 a0001c0003t0038g0081 a0001c0003t0040g0073 a0001c0003t0041g0086 a0001c0006t0045g0070 a0001c0007t0009g0038 a0001c0012t0001g0008 a0001c0023t0042g0084 a0002c0004t0001g0033 a0002c0004t0012g0016 a0002c0004t0033g0095 a0003c0018t0043g0052	18	58	0.3103	100	c.170 others(119): Show c.170-19528_170-19527insGGGTCCCCATGCAGGGGGCACAGGAT GGAGGCTCCATGTGGCAGGGGGGTAGGTCCCCATGCAGGGGGCACAGGAT GGAGGCTCCATGTGGCAGGGGGGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61944446	C C	CTGCACCG others(93): Show CTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0055 a0001c0001t0037g0055	1	106	0.0094	100	c.75 others(111): Show c.7503_*7504insTGCACCGTGGCCGCCCCTTCTCACCGACGACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAG GAGCATTGCGACTGTA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3830		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944830	G G	GCACTGAG others(93): Show GCACTGAGACTGACTGCACTGTGGCCGCCCCTTCTCACCAATGATGAGGA ACATTGAGACTGTCTGCACCATGGCTGCCCCTTCTCCCCAACAATGAGGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0017 a0001c0007t0009g0017	1	106	0.0094	100	c.78 others(111): Show c.7887_*7888insCACTGAGACTGACTGCACTGTGGCCGCCCCTTCT CACCAATGATGAGGAACATTGAGACTGTCTGCACCATGGCTGCCCCTTCT CCCCAACAATGAGGAA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4214		chr20	TogoVar
CDYL_chr6_4771404_4960544	4895385	G G	GCGCATAT others(93): Show GCGCATATATGCATGTATGTATATATGCGCATATATGCATGTATGTATAT ATGCGCATATATGCATGTATGTATATATGCATATATGCATGTATGTATAT A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02572.hp1 HG02723.hp2 others(1): Show HG00609.hp2 HG02572.hp1 HG02723.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0001t0001 a0001c0001t0002 a0001c0005t0002	a0001c0001t0001g0182 a0001c0001t0002g0044 a0001c0005t0002g0162 others(1): Show a0001c0001t0001g0182 a0001c0001t0002g0044 a0001c0005t0002g0162 a0001c0005t0002g0166	4	186	0.0215	100	c.691 others(117): Show c.691+3006_691+3007insCGCATATATGCATGTATGTATATATGCG CATATATGCATGTATGTATATATGCGCATATATGCATGTATGTATATATG CATATATGCATGTATGTATATA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6			chr6	TogoVar
CEACAM3_chr19_41791587_41816554	41803738	T T	TGCAGCTG others(93): Show TGCAGCTGTCCAATGACAAGAGGACCCTCACTCTACTCAGTGTCACAAGG AATGACACAGGACCCTATGAGTGTGAAATACCGAACCCAGTGGGTGCCAG C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(172): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03130.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0036 a0001c0001t0001g0120 a0001c0001t0002g0002 others(51): Show a0001c0001t0001g0036 a0001c0001t0001g0120 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0057 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0028 a0001c0002t0002g0058 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140	175	414	0.4227	100	c.425 others(117): Show c.425-5075_425-5074insGCAGCTGTCCAATGACAAGAGGACCCTC ACTCTACTCAGTGTCACAAGGAATGACACAGGACCCTATGAGTGTGAAAT ACCGAACCCAGTGGGTGCCAGC	CEACAM3	ENSG00000170956.17	transcript	ENST00000357396.8	protein_coding	2/6			chr19	TogoVar
CELSR1_chr22_46356174_46542620	46414495	G G	GCCCGCCT others(93): Show GCCCGCCTCTCGGCGAGTGTGGGTTTAACGCGCAGGCTAACCGTCCACTC TCCCGCCTCTCGGCGAGTGTGGGTTTAACGCGCAGGCTAACCGTCCACTC T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02486.hp1 HG02615.hp1	a0020 a0021 a0020 a0021	a0020c0010 a0021c0036 a0020c0010 a0021c0036	a0020c0010t0001 a0021c0036t0006 a0020c0010t0001 a0021c0036t0006	a0020c0010t0001g0007 a0021c0036t0006g0002 a0020c0010t0001g0007 a0021c0036t0006g0002	2	70	0.0286	100	c.461 others(119): Show c.4612-2737_4612-2736insAGAGTGGACGGTTAGCCTGCGCGTTA AACCCACACTCGCCGAGAGGCGGGAGAGTGGACGGTTAGCCTGCGCGTTA AACCCACACTCGCCGAGAGGCGGG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/34			chr22	TogoVar
CENPJ_chr13_24877279_24927861	24881816	C C	CTATATAG others(93): Show CTATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATAT AGATGCATCTATATAGATATATAATCTATATAGATATATAATCTATATAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0232 a0001c0002t0007g0232	1	395	0.0025	100	c.13 others(111): Show c.1360_*1361insTCTATATAGATTATATATCTATATAGATTATATA TCTATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATA TAGATGCATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		462		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881827	C C	CATCTATA others(93): Show CATCTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTA TATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01109.hp2 HG00558.hp1 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0260 a0001c0002t0007g0228 a0001c0002t0001g0260 a0001c0002t0007g0228	2	434	0.0046	100	c.13 others(111): Show c.1349_*1350insTATATATCTATATAGATTATATATCTATATAGAT GCATCTATATATCTATATAGATGCATCTATATATCTATATAGATGCATCT ATATATCTATATAGAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		451		chr13	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAGAT others(93): Show AAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGTATATGGG TGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTACTATAA T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02451.hp2 HG02683.hp2 others(2): Show HG01257.hp1 HG02451.hp2 HG02683.hp2 HG02976.hp2 HG04204.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0004 a0002c0002t0002 a0003c0003t0006 a0001c0001t0004 a0002c0002t0002 a0003c0003t0006	a0001c0001t0004g0017 a0001c0001t0004g0042 a0002c0002t0002g0225 others(1): Show a0001c0001t0004g0017 a0001c0001t0004g0042 a0002c0002t0002g0225 a0003c0003t0006g0172	5	12	0.4167	100	c.478 others(117): Show c.478-1176_478-1175insGATGGTCCTGAGTTGATAATTGAAACTG GCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTG TTTGAAATTTACTATAATAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP72_chr5_607340_658553	649788	C C	CTGTGAGG others(93): Show CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGGGTGT GAGGTGTGACTGTGAGGCGTGGACTGAGGTGTGACTGTGAGGCGTGGACT G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	70	0.0143	100	c.177 others(119): Show c.1778+1874_1778+1875insTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGTGTGACTGTGGGTGTGAGGTGTGACTGTGAGGCGTGGACTGAGG TGTGACTGTGAGGCGTGGACTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP276_chr1_109100951_109117747	109113405	A A	AGAGAGAG others(93): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACCCTGTCAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	397	0.0025	100	c.-72 others(109): Show c.-727_-726insCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTGACAGGGTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		659		chr1	TogoVar
CFAP299_chr4_80330730_80968750	80800530	T T	TAATATAT others(93): Show TAATATATTAATATAAATATATAATATATAATATATTAATATAAATATAT AATATATAATATATTAATATAAATATATAATATATAATATATTAATATAA A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	94	0.0106	100	c.334 others(119): Show c.334-69463_334-69462insAATATATTAATATAAATATATAATAT ATAATATATTAATATAAATATATAATATATAATATATTAATATAAATATA TAATATATAATATATTAATATAAA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP47_chrX_35914734_36390317	35924200	T T	TGTACGCC others(93): Show TGTACGCCTATGTGTATAGGCGTACATATATGTGTACATATGTACGCCTA TGTGTATAGGCGTACATATATGTGTACATATGTACGCCTATGTGTATAGG C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp1 HG02886.hp2 HG03041.hp1	a0010 a0017 a0010 a0017	a0010c0051 a0017c0016 a0010c0051 a0017c0016	a0010c0051t0001 a0017c0016t0001 a0010c0051t0001 a0017c0016t0001	a0010c0051t0001g0191 a0017c0016t0001g0192 a0010c0051t0001g0191 a0017c0016t0001g0192	2	214	0.0093	100	c.250 others(117): Show c.250-1816_250-1815insTACGCCTATGTGTATAGGCGTACATATA TGTGTACATATGTACGCCTATGTGTATAGGCGTACATATATGTGTACATA TGTACGCCTATGTGTATAGGCG	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP61_chr20_20047532_20365698	20337286	A A	ATGGATGG others(93): Show ATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGATGGATAAATGGATGGATGGATGGATGGATAGATGGGTGG G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01071.hp2 others(14): Show HG00140.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01256.hp2 HG01258.hp2 HG01993.hp1 HG01993.hp2 HG02109.hp1 HG02148.hp2 HG02602.hp2 HG02647.hp1 HG03486.hp1 HG03540.hp2 NA19003.hp2 NA19030.hp1 NA19090.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0006 a0010c0017t0002	a0001c0001t0001g0208 a0001c0001t0002g0198 a0001c0003t0001g0165 others(14): Show a0001c0001t0001g0208 a0001c0001t0002g0198 a0001c0003t0001g0165 a0001c0007t0002g0231 a0001c0007t0002g0232 a0002c0002t0001g0143 a0002c0002t0002g0081 a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0118 a0002c0004t0001g0205 a0002c0004t0001g0215 a0002c0004t0001g0219 a0002c0004t0002g0209 a0002c0004t0004g0017 a0002c0004t0006g0020 a0010c0017t0002g0121	17	217	0.0783	100	c.342 others(119): Show c.3423-4540_3423-4539insGGATGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGATGGATAAATGGATGGATGGAT GGATGGATAGATGGGTGGGTGGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337374	A A	ATGGATGG others(93): Show ATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGAT GGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	173	0.0058	100	c.342 others(119): Show c.3423-4440_3423-4439insAGATGGGTGGGTGGATGGATGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1948934	T T	TCCCTCCC others(93): Show TCCCTCCCTTCTTTCCTTCCCTTTCCCTCCCTCCCTTCCTTCCTCTTTCC TTCCTTCCTCTCCCTTACTCCTTCCTTCCTTCCCTTCCCCTTCCTTCTCT C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18522.hp1 NA20300.hp2 HG02965.hp1 NA18522.hp1 NA20300.hp2	a0003 a0038 a0003 a0038	a0003c0005 a0038c0075 a0003c0005 a0038c0075	a0003c0005t0002 a0038c0075t0001 a0003c0005t0002 a0038c0075t0001	a0003c0005t0002g0083 a0003c0005t0002g0136 a0038c0075t0001g0084 a0003c0005t0002g0083 a0003c0005t0002g0136 a0038c0075t0001g0084	3	57	0.0526	100	c.217 others(119): Show c.2177-1881_2177-1880insGAGAGAAGGAAGGGGAAGGGAAGGAA GGAAGGAGTAAGGGAGAGGAAGGAAGGAAAGAGGAAGGAAGGGAGGGAGG GAAAGGGAAGGAAAGAAGGGAGGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1949040	T T	TTCCCTCC others(93): Show TTCCCTCCTTTCCTTCCTTCCTTTCCTTTCCCTCCTTCCTCCCTCCCTCC TTTCCTTCATTCCCTTCCTTCCCCTTCCCCTTCCTTCCTTCTCTCCCTCC C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0190 a0001c0003t0001g0190	1	276	0.0036	100	c.217 others(119): Show c.2177-1987_2177-1986insGGGAGGGAGAGAAGGAAGGAAGGGGA AGGGGAAGGAAGGGAATGAAGGAAAGGAGGGAGGGAGGAAGGAGGGAAAG GAAAGGAAGGAAGGAAAGGAGGGA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFI_chr4_109735695_109806999	109753216	T T	TTATATAA others(93): Show TTATATAAATAAATATTTATAATATATATTTATTATATAAATAAATATTT ATAATATATATTTATTATATAAATAAATATTATATAAATAAATATTTATA A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18979.hp2 NA18952.hp1 NA18979.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0308 a0002c0003t0001g0310 a0002c0003t0001g0308 a0002c0003t0001g0310	2	312	0.0064	100	c.905 others(115): Show c.905-714_905-713insTTATAAATATTTATTTATATAATATTTATT TATATAATAAATATATATTATAAATATTTATTTATATAATAAATATATAT TATAAATATTTATTTATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753310	A A	AATAAATA others(93): Show AATAAATATTTATAACATATATTTATTATATAAATAAATATTTATAATAT ATATTTATTATATATTTATTATATAAATAAATATTTATAATATATATTTA T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0299 a0002c0003t0001g0299	1	351	0.0028	100	c.905 others(115): Show c.905-808_905-807insATAAATATATATTATAAATATTTATTTATA TAATAAATATATAATAAATATATATTATAAATATTTATTTATATAATAAA TATATGTTATAAATATTTAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CHM_chrX_85856180_86052558	85911164	T T	TATATATA others(93): Show TATATATATATATGAATATATATATATGAATATATATATGAATATATATA TGAATATATATATGAATATATATATGAATATATATATGAATATATATATG A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	56	0.0179	100	c.124 others(115): Show c.1244+96_1244+97insTCATATATATATTCATATATATATTCATAT ATATATTCATATATATATTCATATATATATTCATATATATATTCATATAT ATATATTCATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86021176	A A	ATATATAT others(93): Show ATATATATATATATATATATATATATATACGTATATACACATATATATAC GTATATATATGTGTATATATATGTGTGTATATATATGTGTATATATATGT G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0230 a0001c0001t0016g0230	1	243	0.0041	100	c.116 others(117): Show c.116+6314_116+6315insCACATATATATACACATATATATACACA CATATATATACACATATATATACGTATATATATGTGTATATACGTATATA TATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHRM2_chr7_136863652_137025213	136867851	T T	TATATATA others(93): Show TATATATATATATATATATATATATATATATATATATATTCTGGATATAT ATATCCTGGACATATATATATATATATATTCTGGATATATATATCCTGGA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02615.hp2 others(4): Show HG01884.hp2 HG02280.hp1 HG02615.hp2 NA18945.hp2 NA18956.hp1 NA18971.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0047 a0001c0001t0053 a0001c0001t0065	a0001c0001t0002g0160 a0001c0001t0002g0176 a0001c0001t0006g0277 others(4): Show a0001c0001t0002g0160 a0001c0001t0002g0176 a0001c0001t0006g0277 a0001c0001t0016g0256 a0001c0001t0047g0122 a0001c0001t0053g0264 a0001c0001t0065g0175	7	297	0.0236	100	c.-14 others(111): Show c.-1424_-1423insATATATATATATATATATATATATATATATATAT ATATTCTGGATATATATATCCTGGACATATATATATATATATATTCTGGA TATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		800		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867853	T T	TATATATA others(93): Show TATATATATATATATATATATATATATATATATATATATTCTGGATATAT ATATCCTGGACATATATATATATATATATTCTGGATATATATATCCTGGA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG02896.hp1 HG02922.hp1 others(13): Show HG01943.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03492.hp2 NA18946.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA19007.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0022 a0001c0001t0069 a0001c0001t0082 a0001c0002t0017	a0001c0001t0001g0207 a0001c0001t0002g0174 a0001c0001t0005g0149 others(12): Show a0001c0001t0001g0207 a0001c0001t0002g0174 a0001c0001t0005g0149 a0001c0001t0005g0270 a0001c0001t0006g0276 a0001c0001t0006g0279 a0001c0001t0007g0132 a0001c0001t0011g0002 a0001c0001t0011g0211 a0001c0001t0015g0263 a0001c0001t0022g0125 a0001c0001t0069g0163 a0001c0001t0082g0159 a0001c0002t0017g0240 a0001c0002t0017g0241	16	135	0.1185	100	c.-14 others(111): Show c.-1422_-1421insATATATATATATATATATATATATATATATATAT ATATTCTGGATATATATATCCTGGACATATATATATATATATATTCTGGA TATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		798		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867855	T T	TATATATA others(93): Show TATATATATATATATATATATATATATATATATATATTCTGGATATATAT ATCCTGGACATATATATATATATATATATTCTGGATATATATATCCTGGA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0245 a0001c0001t0072g0245	1	281	0.0036	100	c.-14 others(111): Show c.-1420_-1419insATATATATATATATATATATATATATATATATAT ATTCTGGATATATATATCCTGGACATATATATATATATATATATTCTGGA TATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		796		chr7	TogoVar
CHST15_chr10_124002668_124098598	124034707	A A	AGGGACCC others(93): Show AGGGACCCCGGCTCCACCCCCTAACGGGGACCCCGGCTCCACCCCCTAAC GGGGACGCCGGCTCCACCCCCTAACGGGGACGCCGGCTCCACCCCCTAAC G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0105 a0001c0001t0024g0105	1	390	0.0026	100	c.119 others(119): Show c.1190+3807_1190+3808insCGTTAGGGGGTGGAGCCGGCGTCCCC GTTAGGGGGTGGAGCCGGCGTCCCCGTTAGGGGGTGGAGCCGGGGTCCCC GTTAGGGGGTGGAGCCGGGGTCCC	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(93): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	204	0.0049	100	c.894 others(115): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CKAP2L_chr2_112731349_112769609	112732316	G G	GCAGGGGC others(93): Show GCAGGGGCAGGTTCTCCAGTAAATCCCAGGTCTCACTGGCCTGTGTCTTT ACAGGGGCAGGTTCTCCAGTAAATCCCAGGTCTCACTGGCCTGTGTCTTT A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	123	0.0081	100	c.64 others(111): Show c.6407_*6506dupTAAAGACACAGGCCAGTGAGACCTGGGATTTACT GGAGAACCTGCCCCTGTAAAGACACAGGCCAGTGAGACCTGGGATTTACT GGAGAACCTGCCCCTG	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		4032		chr2	TogoVar
CLCN7_chr16_1439935_1480028	1457457	A A	ATGCTCAG others(93): Show ATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0118 a0001c0001t0032g0118	1	343	0.0029	100	c.738 others(115): Show c.738+137_739-121dupCCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCA	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24			chr16	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0103 a0001c0001t0052g0103	1	268	0.0037	100	c.21 others(109): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0185 a0001c0001t0046g0185	1	268	0.0037	100	c.21 others(109): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTT CTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAAGAA others(93): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAA G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	122	0.0082	100	c.424 others(113): Show c.424-67_424-66insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAAAAGAAGAAAGAGA AAGAAAGAAAAGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(93): Show GTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATATATATAT ATATATATATATATATATATATATATGTTTTTTTTTTTTTGAGACAGAGA T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	59	0.0169	100	c.432 others(119): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTATATATAC ATATATATATATATATATATATATATATATATATATATATATATATATGT TTTTTTTTTTTTGAGACAGAGATT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(93): Show GTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATATATATAT ATATATATATATATATATATATATATGTTTTTTTTTTTTTGAGACAGAGT T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	59	0.0169	100	c.432 others(119): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTATATATAC ATATATATATATATATATATATATATATATATATATATATATATATATGT TTTTTTTTTTTTGAGACAGAGTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(93): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATAT ATATATATATATATATATATATATATGTTTTTTTTTTTTTGAGACAGAGT T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	59	0.0169	100	c.432 others(119): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTGTGTGTAT ATATACATATATATATATATATATATATATATATATATATATATATATGT TTTTTTTTTTTTGAGACAGAGTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT3_chr19_54132762_54160681	54133764	T T	TCTCTTCC others(93): Show TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	218	0.0046	100	c.-42 others(111): Show c.-4280_-4279insCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3997		chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(93): Show GACACACACACACACACACACACACACACACACACACACACACACCCCGG AACCTTCGCGCACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0300 a0001c0001t0004g0301	2	76	0.0263	100	c.5+2 others(111): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGCGCGAAGGTTCCGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(93): Show GACACACACACACACACACACACACACACACACACACACACACCCCGGAA CCTTCGCGCGCGCACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0298 a0001c0001t0004g0298	1	75	0.0133	100	c.5+2 others(111): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGCGCGCGCGAAGGTTCCGGGGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(93): Show GACACACACACACACACACACACACACACACACACACACACCCCGGAACC TTCGCGCGCGCACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0302 a0001c0001t0004g0302	1	75	0.0133	100	c.5+2 others(111): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGCGCGCGCGAAGGTTCCGGGGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNR2_chr1_23865515_23918362	23899843	A A	AAAGAAAG others(93): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	122	0.0082	100	c.-46 others(119): Show c.-46+13402_-46+13403insCCTTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCTTTCTTTCTTTCTTTCTTTCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899907	G G	GAAGAAAG others(93): Show GAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0247 a0001c0001t0005g0247	1	40	0.0250	100	c.-46 others(119): Show c.-46+13338_-46+13339insTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTTCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar

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