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
ATP5ME_chr4_667436_679276	669053	TGCTATTC others(67): Show TGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTA CCCCATGCTGCTCCCACTACCCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00741.hp2 others(63): Show HG00099.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025	66	394	0.1675	-74	c.33 others(85): Show c.3373_*3446delGTGGGGTAGTGGGAGCAGCATGGGGTAGGGGAAT AGCGTGGGGTAGTGGGAGCAGCATGGGGTAGGGGAATAGC	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3382		chr4	TogoVar
ATP5ME_chr4_667436_679276	669123	CCCACGCT others(67): Show CCCACGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCC CCTACCCCATGCTATTCCCGCTATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG01358.hp2 others(2): Show HG00642.hp1 HG01261.hp1 HG01358.hp2 HG02622.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	5	394	0.0127	-74	c.33 others(85): Show c.3303_*3376delCATAGCGGGAATAGCATGGGGTAGGGGAATAGCG TGGGGTAGTGGGAGCAGCATGGGGTAGGGGAATAGCGTGG	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3312		chr4	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(67): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	446	0.0022	-74	c.287 others(89): Show c.287+665_287+738delACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GALT1_chr2_167288001_167879045	167876009	ATATATAT others(67): Show ATATATATACGTATATATATATATACGTATATATATATATATACGTATAT ATATATATGTATATATATATATACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG03540.hp2 HG01496.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0027 a0001c0001t0022 a0001c0001t0027	a0001c0001t0022g0047 a0001c0001t0027g0006 a0001c0001t0022g0047 a0001c0001t0027g0006	2	118	0.0170	-74	c.59 others(85): Show c.5990_*6063delTATATATACGTATATATATATATACGTATATATA TATATATACGTATATATATATATGTATATATATATATACG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1965		chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	83039304	CTTCTAGA others(67): Show CTTCTAGACACACTGCTGGGCGCCCGCCGCCCGCCCCTCTTCTAGACACT GCTGGGCGCCCGCCGCCCGCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02559.hp2 others(3): Show HG00639.hp2 HG01243.hp1 HG02559.hp2 HG03209.hp2 HG03516.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0037 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0037 a0001c0001t0039 a0002c0005t0007	a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0005g0256 others(3): Show a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0005g0256 a0001c0001t0037g0259 a0001c0001t0039g0260 a0002c0005t0007g0261	6	266	0.0226	-74	c.233 others(91): Show c.233-4279_233-4206delCAGGGGCGGGCGGCGGGCGCCCAGCAGT GTCTAGAAGAGGGGCGGGCGGCGGGCGCCCAGCAGTGTGTCTAGAA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
BAZ2B_chr2_159313979_159621548	159325032	TTATATAT others(67): Show TTATATATATATTATATATATATATATATTATATATATATATATATTATA TATATATATATTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0001 a0019c0017t0001	a0019c0017t0001g0006 a0019c0017t0001g0006	1	216	0.0046	-74	c.621 others(90): Show c.6210-152_6210-79delTATATATATATATAATATATATATATATA ATATATATATATATATAATATATATATATATATAATATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BDP1_chr5_71450651_71572820	71491478	CTTGCTGT others(67): Show CTTGCTGTGTGTGTGTGTGTTTTTAAATTTTATTTTGTAATATAAAATCA TGAGATTTACCCTCAATAGATTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0021 a0021	a0021c0020 a0021c0020	a0021c0020t0023 a0021c0020t0023	a0021c0020t0023g0119 a0021c0020t0023g0119	1	325	0.0031	-74	c.164 others(91): Show c.1640+349_1640+422delTGCTGTGTGTGTGTGTGTTTTTAAATTT TATTTTGTAATATAAAATCATGAGATTTACCCTCAATAGATTTTTT	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	11/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BICD1_chr12_32101847_32388633	32346583	CGTGTATA others(67): Show CGTGTATATATATATATATATATATATATACGTGTATATATATATATATA TACGTGTATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02040.hp1 NA19060.hp2 others(1): Show HG02027.hp1 HG02040.hp1 NA19060.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0190 a0001c0002t0001g0222 a0001c0002t0001g0231 others(1): Show a0001c0002t0001g0190 a0001c0002t0001g0222 a0001c0002t0001g0231 a0001c0004t0001g0196	4	290	0.0138	-74	c.276 others(93): Show c.2764+7605_2764+7678delGTGTATATATATATATATATATATAT ATACGTGTATATATATATATATATACGTGTATATATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9			chr12	TogoVar
BRSK1_chr19_55278997_55317562	55285972	CCTGGAGT others(67): Show CCTGGAGTGCTGGGTCTGAGGGAGGAGGAACTGGGGGTCTGGAGTGCTGA GTCTAAGGGAGGAGGGGCTGGGGGT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0264 a0001c0001t0004g0264	1	338	0.0030	-74	c.137 others(90): Show c.137-1007_137-934delAACTGGGGGTCTGGAGTGCTGAGTCTAAG GGAGGAGGGGCTGGGGGTCTGGAGTGCTGGGTCTGAGGGAGGAGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55286026	AAGGGAGG others(67): Show AAGGGAGGAGGGGCTGGGGGTCTGGAGTGCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGAGTGCTGGGTCTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG03041.hp1 others(4): Show HG02257.hp1 HG02258.hp1 HG03041.hp1 HG03486.hp2 NA18906.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0004t0003 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0004t0003 a0001c0004t0005	a0001c0001t0003g0032 a0001c0001t0004g0033 a0001c0004t0003g0276 others(4): Show a0001c0001t0003g0032 a0001c0001t0004g0033 a0001c0004t0003g0276 a0001c0004t0005g0034 a0001c0004t0005g0035 a0001c0004t0005g0038 a0001c0004t0005g0039	7	338	0.0207	-74	c.137 others(89): Show c.137-961_137-888delTCTGGAGTGCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGAGTGCTGGGTCTGAGGGAGGAGGGGCTGGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	GTCCTGGG others(67): Show GTCCTGGGGGTCTGTCCACTGCCCCTGCTGGGCCCGGATCCTGGGGATCT GTCCACCGCCCCTGCTGGGCACGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0096 a0001c0001t0118g0096	1	322	0.0031	-74	c.-18 others(85): Show c.-1872_-1799delTCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCA GGATCCGGGCCCAGCAGGGGCAGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410786	CCTGCTGG others(67): Show CCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCACG GATCCTGGGGGTCTGTCCACCGTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01358.hp2 HG01361.hp1 others(23): Show HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02074.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp2 HG03041.hp1 HG03704.hp2 NA18944.hp1 NA18950.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18973.hp2 NA18980.hp1 NA19010.hp1 NA19056.hp1 NA19067.hp2 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0002c0018 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0001t0035 a0001c0001t0055 a0001c0001t0075 a0001c0002t0007 a0001c0002t0062 a0002c0005t0023 a0002c0018t0007 a0004c0014t0017	a0001c0001t0001g0001 a0001c0001t0001g0177 a0001c0001t0002g0033 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0177 a0001c0001t0002g0033 a0001c0001t0016g0014 a0001c0001t0017g0018 a0001c0001t0035g0081 a0001c0001t0055g0068 a0001c0001t0075g0072 a0001c0002t0007g0012 a0001c0002t0062g0125 a0002c0005t0023g0145 a0002c0018t0007g0148 a0004c0014t0017g0122	26	322	0.0808	-74	c.-18 others(85): Show c.-1895_-1822delTGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1640		chr19	TogoVar
C2CD4C_chr19_400445_414147	410809	ATCTGTCC others(67): Show ATCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGT CACTGCTGGGCCCGGATCCTGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0012 a0001c0002t0007g0012	1	322	0.0031	-74	c.-19 others(85): Show c.-1918_-1845delCCCCCAGGATCCGGGCCCAGCAGTGACGGTGGAC AGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1663		chr19	TogoVar
C2CD4C_chr19_400445_414147	413217	AGCTGATT others(67): Show AGCTGATTCCCGGGGCATCCTGGCCCCTCCACGGCACCAGCTGATTCCCG GGGATCCTGGCCCTCTATGGCACCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02148.hp2 HG02273.hp2 others(1): Show HG01943.hp2 HG02148.hp2 HG02273.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0036 a0001c0001t0055 a0001c0001t0016 a0001c0001t0036 a0001c0001t0055	a0001c0001t0016g0014 a0001c0001t0036g0086 a0001c0001t0055g0068 a0001c0001t0016g0014 a0001c0001t0036g0086 a0001c0001t0055g0068	4	322	0.0124	-74	c.-43 others(85): Show c.-4326_-4253delCGGTGCCATAGAGGGCCAGGATCCCCGGGAATCA GCTGGTGCCGTGGAGGGGCCAGGATGCCCCGGGAATCAGC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4071		chr19	TogoVar
CAB39L_chr13_49303650_49449064	49318483	AGGGAAAG others(67): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18963.hp1 NA18953.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0317 a0001c0002t0002g0242 a0001c0001t0002g0317 a0001c0002t0002g0242	2	324	0.0062	-74	c.835 others(91): Show c.835-7564_835-7491delCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(67): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01256.hp1 others(23): Show HG00609.hp2 HG00673.hp2 HG01256.hp1 HG01891.hp2 HG01943.hp1 HG02074.hp1 HG02109.hp2 HG02280.hp1 HG02647.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03688.hp1 HG04228.hp1 NA18906.hp2 NA18960.hp1 NA18971.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp2 NA19002.hp2 NA19011.hp1	a0001 a0005 a0007 others(3): Show a0001 a0005 a0007 a0009 a0017 a0018	a0001c0002 a0001c0003 a0001c0005 others(12): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0012 a0001c0013 a0001c0018 a0001c0041 a0001c0048 a0005c0038 a0005c0039 a0007c0016 a0009c0021 a0017c0047 a0018c0046	a0001c0002t0001 a0001c0002t0008 a0001c0002t0037 others(16): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0037 a0001c0003t0005 a0001c0003t0034 a0001c0005t0004 a0001c0007t0003 a0001c0012t0001 a0001c0012t0002 a0001c0013t0009 a0001c0018t0009 a0001c0041t0001 a0001c0048t0006 a0005c0038t0023 a0005c0039t0032 a0007c0016t0007 a0009c0021t0010 a0017c0047t0006 a0018c0046t0016	a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0064 others(23): Show a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0064 a0001c0002t0001g0103 a0001c0002t0008g0053 a0001c0002t0008g0065 a0001c0002t0037g0242 a0001c0003t0005g0130 a0001c0003t0034g0109 a0001c0005t0004g0082 a0001c0005t0004g0086 a0001c0005t0004g0091 a0001c0007t0003g0037 a0001c0012t0001g0032 a0001c0012t0001g0051 a0001c0012t0002g0050 a0001c0013t0009g0203 a0001c0018t0009g0029 a0001c0041t0001g0182 a0001c0048t0006g0101 a0005c0038t0023g0020 a0005c0039t0032g0079 a0007c0016t0007g0205 a0009c0021t0010g0004 a0017c0047t0006g0116 a0018c0046t0016g0110	26	248	0.1048	-74	c.226 others(93): Show c.2267+4699_2267+4772delCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(67): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0020 a0020	a0020c0052 a0020c0052	a0020c0052t0006 a0020c0052t0006	a0020c0052t0006g0115 a0020c0052t0006g0115	1	248	0.0040	-74	c.226 others(93): Show c.2268-3479_2268-3406delCAGTTAGGCCACCTGCCCTGATGGAA GTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNB2_chr10_18135424_18548557	18442912	ATATATAT others(67): Show ATATATATATATATGTATATATATATATATGTGTATATATATATATGTAT ATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01074.hp2 others(47): Show HG00642.hp1 HG00741.hp2 HG01074.hp2 HG01167.hp1 HG01358.hp2 HG01516.hp1 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG04228.hp1 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18983.hp2 NA18994.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19070.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0001t0048 a0001c0001t0054 a0001c0002t0002 a0001c0002t0005 a0001c0002t0057 a0001c0004t0010 a0001c0004t0038 a0001c0005t0022 a0002c0003t0024 a0002c0003t0052	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0003g0026 a0001c0001t0003g0081 a0001c0001t0003g0172 a0001c0001t0003g0199 a0001c0001t0004g0149 a0001c0001t0004g0161 a0001c0001t0004g0167 a0001c0001t0006g0023 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0008g0180 a0001c0001t0011g0125 a0001c0001t0012g0003 a0001c0001t0012g0198 a0001c0001t0016g0006 a0001c0001t0016g0089 a0001c0001t0016g0181 a0001c0001t0019g0126 a0001c0001t0028g0013 a0001c0001t0029g0009 a0001c0001t0035g0086 a0001c0001t0036g0176 a0001c0001t0040g0021 a0001c0001t0048g0195 a0001c0001t0054g0162 a0001c0002t0002g0004 a0001c0002t0002g0050 a0001c0002t0002g0065 a0001c0002t0002g0091 a0001c0002t0002g0112 a0001c0002t0002g0129 a0001c0002t0002g0147 a0001c0002t0002g0178 a0001c0002t0005g0051 a0001c0002t0057g0151 a0001c0004t0010g0084 a0001c0004t0010g0085 a0001c0004t0038g0139 a0001c0005t0022g0090 a0001c0005t0022g0186 a0002c0003t0024g0110 a0002c0003t0052g0024	50	200	0.2500	-74	c.333 others(93): Show c.333+40881_333+40954delATGTATATATATATATATGTGTATAT ATATATATGTATATATATATGTGTATATATATATATGTATATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442912	ATATATAT others(67): Show ATATATATATATATGTATATATATATATATGTGTATATATATATATGTAT ATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00639.hp1 others(62): Show HG00099.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01167.hp1 HG01358.hp2 HG01891.hp2 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18943.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18975.hp1 NA18983.hp1 NA18994.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19070.hp1 NA19080.hp2 NA19086.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0031 a0001c0001t0045 a0001c0001t0061 a0001c0002t0002 a0001c0002t0004 a0001c0002t0042 a0001c0002t0043 a0001c0004t0008 a0001c0004t0027 a0001c0004t0028 a0001c0005t0021 a0002c0003t0023 a0002c0003t0035 a0002c0003t0070	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0149 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0003g0127 a0001c0001t0003g0181 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0249 a0001c0001t0007g0003 a0001c0001t0007g0252 a0001c0001t0010g0287 a0001c0001t0010g0289 a0001c0001t0012g0182 a0001c0001t0012g0184 a0001c0001t0015g0111 a0001c0001t0016g0224 a0001c0001t0016g0238 a0001c0001t0016g0273 a0001c0001t0025g0241 a0001c0001t0031g0232 a0001c0001t0045g0205 a0001c0001t0061g0180 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0138 a0001c0002t0002g0145 a0001c0002t0002g0203 a0001c0002t0002g0210 a0001c0002t0002g0217 a0001c0002t0002g0255 a0001c0002t0002g0288 a0001c0002t0002g0290 a0001c0002t0004g0048 a0001c0002t0004g0107 a0001c0002t0004g0114 a0001c0002t0004g0119 a0001c0002t0042g0212 a0001c0002t0043g0222 a0001c0004t0008g0201 a0001c0004t0008g0202 a0001c0004t0027g0043 a0001c0004t0028g0187 a0001c0005t0021g0207 a0001c0005t0021g0276 a0002c0003t0023g0239 a0002c0003t0035g0275 a0002c0003t0070g0185	65	302	0.2152	-74	c.171 others(93): Show c.171+40881_171+40954delATGTATATATATATATATGTGTATAT ATATATATGTATATATATATGTGTATATATATATATGTATATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG3_chr16_24251335_24367412	24317574	GAAAGAAA others(67): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGACAGACAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 NA19090.hp1 others(1): Show HG01884.hp2 HG02109.hp2 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0189 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0189 a0001c0001t0001g0240 a0001c0001t0002g0251	4	366	0.0109	-74	c.212 others(93): Show c.212-29106_212-29033delCAGACAGAAAGAAAGAAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALML5_chr10_5493697_5504570	5503302	CATGTGTG others(67): Show CATGTGTGTGTGGGTTTGAGTTTGTGTGTGCATGTGAGCACAAGTTTGCA TGTGTGTGCAAGTGTGCATGCATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(60): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01934.hp2 HG02083.hp1 HG02300.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18961.hp1 NA18964.hp1 NA18979.hp2 NA18983.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0002c0002t0001g0000 a0003c0003t0001g0000	63	444	0.1419	-74	c.-39 others(85): Show c.-3938_-3865delACATGCATGCACACTTGCACACACATGCAAACTT GTGCTCACATGCACACACAAACTCAAACCCACACACACAT	CALML5	ENSG00000178372.8	transcript	ENST00000380332.5	protein_coding		3733		chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227055	GGGACAGA others(67): Show GGGACAGAAGGGGTCATGGGGGATGGGGGTGCGTGAGGGGACCAAGGTGG ATGTGGGGGACAGAGGGAGTGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	242	0.0041	-74	c.146 others(91): Show c.1469-485_1469-412delTCCACACTCCCTCTGTCCCCCACATCCA CCTTGGTCCCCTCACGCACCCCCATCCCCCATGACCCCTTCTGTCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44409109	ATATATAT others(67): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG02486.hp1 others(3): Show HG00738.hp1 HG00741.hp1 HG02486.hp1 HG02965.hp2 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0036 a0001c0001t0002g0042 others(3): Show a0001c0001t0001g0037 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045	6	198	0.0303	-74	c.376 others(93): Show c.376+18810_376+18883delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATGTATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN11_chr6_44153820_44189401	44181787	ACACACAC others(67): Show ACACACACATACACACTCACATACAGACACAACCACACCACACACACACA CACTCACATACAGACACAACCACAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0382 a0003c0003t0002g0382	1	460	0.0022	-74	c.193 others(91): Show c.1938+476_1938+549delTACACACTCACATACAGACACAACCACA CCACACACACACACACTCACATACAGACACAACCACACCACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CBFA2T3_chr16_88869858_88982207	88961618	ACTGGGCA others(67): Show ACTGGGCATTCCCACTCCATAGTAACCGACACTCAGCGCTGGGCATTCCC ACTCCATAGTAACCGACACTCAGCG	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0176 a0001c0001t0022g0176	1	284	0.0035	-74	c.151 others(93): Show c.151+14965_151+15038delCGCTGAGTGTCGGTTACTATGGAGTG GGAATGCCCAGCGCTGAGTGTCGGTTACTATGGAGTGGGAATGCCCAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBLB_chr3_105650461_105874012	105662941	GGAGAGTT others(67): Show GGAGAGTTACTACTGTTACTACTTGAGACCTTCACTACAACAGTTACTGC TGTTACTACTTGAGACCGTCACTAC	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18962.hp1 NA18987.hp1 others(1): Show NA18959.hp1 NA18962.hp1 NA18987.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0056 a0001c0001t0003g0143 a0001c0001t0003g0144 others(1): Show a0001c0001t0001g0056 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145	4	380	0.0105	-74	c.269 others(93): Show c.2690-3786_2690-3713delGTAGTGACGGTCTCAAGTAGTAACAG CAGTAACTGTTGTAGTGAAGGTCTCAAGTAGTAACAGTAGTAACTCTC	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CCDC77_chr12_396644_447642	419532	TAAACACA others(67): Show TAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00544.hp1 others(58): Show HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01358.hp2 HG01975.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02293.hp2 HG02809.hp1 HG03017.hp2 HG03195.hp2 HG03471.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 NA18945.hp1 NA18945.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19088.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006	a0001c0001t0002 a0001c0001t0016 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0016 a0002c0002t0001 a0003c0003t0002 a0003c0003t0015 a0006c0006t0012	a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0056 others(54): Show a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0161 a0001c0001t0002g0197 a0001c0001t0002g0279 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0400 a0001c0001t0016g0078 a0002c0002t0001g0271 a0003c0003t0002g0001 a0003c0003t0002g0006 a0003c0003t0002g0007 a0003c0003t0002g0155 a0003c0003t0002g0173 a0003c0003t0002g0174 a0003c0003t0002g0175 a0003c0003t0002g0176 a0003c0003t0002g0180 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0002g0199 a0003c0003t0002g0200 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0210 a0003c0003t0002g0285 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0315 a0003c0003t0002g0343 a0003c0003t0002g0368 a0003c0003t0002g0369 a0003c0003t0002g0376 a0003c0003t0015g0290 a0006c0006t0012g0104 a0006c0006t0012g0105	61	432	0.1412	-74	c.413 others(90): Show c.413+974_413+1047delCACACATAGCAGCACCCTCCATGCTCCAT TACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	419633	CTCCATTA others(67): Show CTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACACTCCATGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG03225.hp2 HG02965.hp2 HG02976.hp1 HG03225.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0004 a0007c0007t0005 a0001c0001t0004 a0007c0007t0005	a0001c0001t0004g0092 a0001c0001t0004g0399 a0007c0007t0005g0328 a0001c0001t0004g0092 a0001c0001t0004g0399 a0007c0007t0005g0328	3	432	0.0069	-74	c.413 others(91): Show c.413+1011_413+1084delTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420125	ACACACAT others(67): Show ACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0295 a0002c0002t0001g0295	1	432	0.0023	-74	c.413 others(91): Show c.413+1490_413+1563delCACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar
CCDC77_chr12_396644_447642	420861	TAAACACA others(67): Show TAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0296 a0002c0002t0001g0296	1	432	0.0023	-74	c.413 others(91): Show c.413+2252_413+2325delTTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421693	CCTCCATG others(67): Show CCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAAATACACATAGCAGCACA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0325 a0001c0001t0004g0325	1	432	0.0023	-74	c.413 others(91): Show c.413+3115_413+3188delATACACATAGCAGCACACTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCM2_chr7_44995201_45081453	44995686	CTTTAGAA others(67): Show CTTTAGAATGGGAGAAAATATTTGCAAACTATTCATGCGGCAAGGGACTA ATATCCAGAATATACAAGGAACTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0041 a0002c0005t0002g0041	1	316	0.0032	-74	c.-46 others(85): Show c.-4647_-4574delTTTAGAATGGGAGAAAATATTTGCAAACTATTCA TGCGGCAAGGGACTAATATCCAGAATATACAAGGAACTCA	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		4514		chr7	TogoVar
CCRL2_chr3_46402259_46414523	46413673	GATCCACC others(67): Show GATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CTGCACCTGGCCCGGAACTAGTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	416	0.0024	-74	c.45 others(85): Show c.4560_*4633delATCCACCCACCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACTGCACCTGGCCCGGAACTAGTTTT	CCRL2	ENSG00000121797.10	transcript	ENST00000399036.4	protein_coding		4151		chr3	TogoVar
CD101_chr1_116996760_117041552	117029139	GAAAGAAA others(67): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0253 a0002c0004t0001g0253	1	426	0.0024	-74	c.282 others(93): Show c.2824+3297_2824+3370delAAGAAAAGAAAGAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CD177_chr19_43348686_43368172	43353171	GGGGGCCT others(67): Show GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGTCTGGACT CCTGGGTCGGAGGGAGGAGGGCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 NA18982.hp1 NA19083.hp1 HG01993.hp2 NA18982.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0097 a0002c0002t0002g0102 a0002c0002t0002g0089 a0002c0002t0002g0097 a0002c0002t0002g0102	3	466	0.0064	-74	c.-54 others(83): Show c.-543_-470delGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGCCT GGGGGTCTGGACTCCTGGGTCGGAGGGAGGAGGGCCTC	CD177	ENSG00000204936.10	transcript	ENST00000618265.5	protein_coding		514		chr19	TogoVar
CD247_chr1_167425640_167523529	167435022	TCCTCCAG others(67): Show TCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTT CCTCCGGAGCCCTCCTCCAGCCCTA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	374	0.0027	-74	c.336 others(89): Show c.336+303_336+376delTAGGGCTGGAGGAGGGCTCCGGAGGAAGGG CTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGG	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD247_chr1_167425640_167523529	167435096	ACCTCCAG others(67): Show ACCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTT CCTCCGGAGCCCTCCTCCAGCCCTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02280.hp1 others(6): Show HG01884.hp1 HG02055.hp2 HG02280.hp1 HG02572.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0036 a0001c0001t0002g0051 a0001c0001t0002g0065 others(6): Show a0001c0001t0002g0036 a0001c0001t0002g0051 a0001c0001t0002g0065 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0110 a0001c0001t0002g0272 a0001c0001t0002g0353 a0001c0001t0007g0083	9	374	0.0241	-74	c.336 others(89): Show c.336+229_336+302delAAGGGCTGGAGGAGGGCTCCGGAGGAAGGG CTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGG	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDC42EP5_chr19_54460026_54478296	54471908	ACCCCCAG others(67): Show ACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGAC	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	421	0.0024	-74	c.-14 others(91): Show c.-141-297_-141-224delGTCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54471919	CTCCTCCC others(67): Show CTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGAC CCAGGAGTCCAGACCCCCCAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(161): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0008 a0001c0001 a0003c0004 a0007c0008	a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 others(1): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 a0007c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(79): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0003c0004t0001g0018 a0003c0004t0001g0050 a0003c0004t0001g0188 a0003c0004t0001g0190 a0003c0004t0002g0167 a0007c0008t0001g0169	164	421	0.3896	-74	c.-14 others(91): Show c.-141-308_-141-235delAGGGCTGGGGGGTCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54471945	ACCCCAGC others(67): Show ACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCCAGCCCTT CCTCCCTCAGACCCAGGAGTCCAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02109.hp2 others(14): Show HG01109.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0040 a0001c0001t0001g0116 a0001c0001t0001g0127 others(10): Show a0001c0001t0001g0040 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0002g0126 a0001c0001t0003g0020 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0208 a0001c0001t0004g0058 a0001c0001t0005g0056	17	421	0.0404	-74	c.-14 others(91): Show c.-141-334_-141-261delCCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54472802	ACCCCCAG others(67): Show ACCCCCAGCCCCTTCTTCCTCAGACCCAGGAGTCAAGACCCCCCAGCCCC TCCTCCCTCAGACCAGGAGTCCAGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	421	0.0024	-74	c.-14 others(91): Show c.-142+188_-142+261delCCTGGACTCCTGGTCTGAGGGAGGAGGG GCTGGGGGGTCTTGACTCCTGGGTCTGAGGAAGAAGGGGCTGGGGG	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDH12_chr5_21745673_22858344	21833134	AAATATAT others(67): Show AAATATATATTATATAACATATAATATATATTATATTATAAATATATATT ATATAACATATAATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG02809.hp1 others(4): Show HG02559.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG03209.hp2 HG03579.hp1 HG06807.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0007c0012	a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 others(3): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0023 a0003c0005t0001 a0007c0012t0002	a0001c0001t0002g0028 a0001c0002t0003g0052 a0001c0002t0006g0030 others(4): Show a0001c0001t0002g0028 a0001c0002t0003g0052 a0001c0002t0006g0030 a0001c0002t0023g0046 a0003c0005t0001g0054 a0003c0005t0001g0056 a0007c0012t0002g0048	7	60	0.1167	-74	c.814 others(91): Show c.814+8953_814+9026delATAATATATATATTATATGTTATATAAT ATATATTTATAATATAATATATATTATATGTTATATAATATATATT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	8/14			chr5	TogoVar
CDH4_chr20_61247261_61945617	61565303	GCTCTTGG others(67): Show GCTCTTGGTGGTGGCGGTGCTCTTGGTGATGGTGGTAGTGGTCCTCTTGG TGATGGGGTGATGGTGGTGGTGGTC	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0055 a0001c0001t0040g0055	1	106	0.0094	-74	c.170 others(95): Show c.170-178250_170-178177delGTGGCGGTGCTCTTGGTGATGGTG GTAGTGGTCCTCTTGGTGATGGGGTGATGGTGGTGGTGGTCCTCTTGGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDKL4_chr2_39170646_39248970	39185167	TATATATA others(67): Show TATATATATACATATGTGTATATACATATATATACACATACGTATATATA CATATATACACATACGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp1 HG01496.hp2 others(10): Show HG01106.hp2 HG01361.hp1 HG01496.hp2 HG02109.hp1 HG02630.hp1 HG02717.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp2 HG06807.hp1 NA19000.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0180 a0001c0001t0001g0185	13	290	0.0448	-74	c.736 others(89): Show c.736-594_736-521delGTATATATACGTATGTGTATATATGTATAT ATACGTATGTGTATATATATGTATATACACATATGTATATATAT	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	7/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39185184	GTATATAC others(67): Show GTATATACATATATATACACATACGTATATATACATATATACACATACGT ATATATACATATATACACATATGTA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	290	0.0035	-74	c.736 others(89): Show c.736-611_736-538delTACATATGTGTATATATGTATATATACGTA TGTGTATATATGTATATATACGTATGTGTATATATATGTATATA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	7/9			chr2	TogoVar
CECR2_chr22_17364460_17563151	17419496	GAAGAGGA others(67): Show GAAGAGGAAGAGGAGGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGA AGAGGAGGAGGAGGAGGAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00621.hp2 others(22): Show HG00099.hp2 HG00558.hp2 HG00621.hp2 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG02738.hp2 HG02895.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18939.hp1 NA18944.hp1 NA18957.hp1 NA18968.hp1 NA18978.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19074.hp2 NA19088.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0010c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0030 a0001c0001t0038 a0001c0001t0081 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0012 a0002c0002t0066 a0004c0004t0006 a0010c0020t0004	a0001c0001t0001g0035 a0001c0001t0001g0125 a0001c0001t0001g0227 others(22): Show a0001c0001t0001g0035 a0001c0001t0001g0125 a0001c0001t0001g0227 a0001c0001t0002g0055 a0001c0001t0002g0160 a0001c0001t0002g0231 a0001c0001t0003g0109 a0001c0001t0003g0170 a0001c0001t0004g0177 a0001c0001t0004g0258 a0001c0001t0011g0136 a0001c0001t0011g0172 a0001c0001t0030g0204 a0001c0001t0038g0293 a0001c0001t0081g0164 a0002c0002t0001g0162 a0002c0002t0003g0018 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0005g0060 a0002c0002t0006g0004 a0002c0002t0012g0031 a0002c0002t0066g0030 a0004c0004t0006g0197 a0010c0020t0004g0240	25	324	0.0772	-74	c.126 others(93): Show c.126+49592_126+49665delGGAAGAGGAGGAAGAAGAAGAAGAAG AAGAGGAAGAGGAAGAGGAAGAGGAGGAGGAGGAGGAGGAAGAAAAGA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71728223	CTCTCTCT others(67): Show CTCTCTCTCTATATATATATATATATATGTATATACACGTATATATATAT ATATATATGTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0015 a0008c0011t0015	a0008c0011t0015g0007 a0008c0011t0015g0007	1	320	0.0031	-74	c.204 others(93): Show c.2049+1548_2049+1621delTATATATATATATATACATATATATA TATATATATACGTGTATATACATATATATATATATATATAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEP76_chr18_12667625_12707723	12669049	TTTTTTTT others(67): Show TTTTTTTTTTGAGACAGAGTTTCACTGTTTCCCAAGCTGGAGTGCAGTGG TGTGATCTCAGCTCACGGCAACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	380	0.0026	-74	c.42 others(85): Show c.4242_*4315delGAGGTTGCCGTGAGCTGAGATCACACCACTGCAC TCCAGCTTGGGAAACAGTGAAACTCTGTCTCAAAAAAAAA	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		3575		chr18	TogoVar
CERCAM_chr9_128415857_128442347	128437888	CACATACA others(67): Show CACATACACGTATATACACGTATATACACATACACGTATATACACGTATA TACACACACGTATATACACGTATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01934.hp2 others(1): Show HG00423.hp1 HG00597.hp2 HG01934.hp2 NA18975.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0021 a0001c0001 a0008c0021	a0001c0001t0001 a0008c0021t0001 a0001c0001t0001 a0008c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0130 a0001c0001t0001g0165 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0130 a0001c0001t0001g0165 a0008c0021t0001g0126	4	400	0.0100	-74	c.10 others(85): Show c.1041_*1114delACATACACGTATATACACGTATATACACATACAC GTATATACACGTATATACACACACGTATATACACGTATAT	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		542		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437892	TACACGTA others(67): Show TACACGTATATACACGTATATACACATACACGTATATACACGTATATACA CACACGTATATACACGTATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA19007.hp1 NA19079.hp1 NA18983.hp2 NA19007.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	3	400	0.0075	-74	c.10 others(85): Show c.1045_*1118delACACGTATATACACGTATATACACATACACGTAT ATACACGTATATACACACACGTATATACACGTATATACAC	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		546		chr9	TogoVar

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