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
CAMKK2_chr12_121232692_121301709	121247110	ACCCAGTG others(8): Show ACCCAGTGTGTTAGCC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 NA21309.hp2 HG02572.hp1 HG02622.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0117 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0117	3	328	0.0091	-15	c.145 others(34): Show c.1452+1481_1452+1495delGGCTAACACACTGGG	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	14/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121295935	AATGCTGA others(8): Show AATGCTGAGAGGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp1 HG02074.hp1 others(12): Show HG01123.hp2 HG01358.hp1 HG02074.hp1 HG02148.hp2 HG02280.hp1 HG02647.hp1 HG02735.hp1 HG02738.hp2 HG02922.hp2 HG03225.hp1 HG03491.hp2 HG03579.hp1 HG03704.hp2 NA18970.hp1 NA19007.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0002c0027 a0003c0003 a0007c0022	a0001c0001t0001 a0001c0001t0002 a0001c0008t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0008 a0002c0002t0001 a0002c0002t0009 a0002c0027t0003 a0003c0003t0001 a0003c0003t0019 a0007c0022t0002	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0002g0318 others(12): Show a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0002g0318 a0001c0008t0008g0320 a0002c0002t0001g0309 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0319 a0002c0002t0001g0321 a0002c0002t0009g0315 a0002c0027t0003g0311 a0003c0003t0001g0310 a0003c0003t0001g0317 a0003c0003t0019g0316 a0007c0022t0002g0314	15	328	0.0457	-15	c.-60 others(30): Show c.-60+688_-60+702delAGCCCCTCTCAGCAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	1/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44445645	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp1 HG06807.hp2 HG02630.hp1 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0198 a0001c0001t0002g0001 a0001c0001t0001g0004 a0001c0001t0001g0198 a0001c0001t0002g0001	3	11	0.2727	-15	c.376 others(34): Show c.376+55374_376+55388delTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44764499	CAGCGAGG others(8): Show CAGCGAGGATGGGTTA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0101 a0001c0001t0005g0101	1	198	0.0051	-15	c.763 others(32): Show c.763-1928_763-1914delCGAGGATGGGTTAAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200761687	ATCATGCC others(8): Show ATCATGCCACTGCACT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	364	0.0027	-15	c.399 others(30): Show c.399+590_399+604delTCATGCCACTGCACT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	2/16			chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200773887	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01069.hp1 others(76): Show HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01258.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02738.hp2 HG02809.hp2 HG02976.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18955.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA19000.hp2 NA19030.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0002t0002 a0003c0004t0008 a0007c0009t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0184 others(74): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0317 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0005g0186 a0001c0001t0006g0206 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0214 a0001c0001t0017g0112 a0001c0001t0021g0259 a0001c0001t0025g0067 a0001c0002t0002g0101 a0003c0004t0008g0192 a0003c0004t0008g0193 a0003c0004t0008g0194 a0007c0009t0003g0032	79	121	0.6529	-15	c.399 others(34): Show c.399+12843_399+12857delATAAAATAAAATAAA	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP3_chr19_7590863_7623304	7595877	AGCGGCGG others(8): Show AGCGGCGGCGGCGGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01515.hp2 HG01257.hp2 HG01515.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0004 a0005c0015t0004 a0001c0001t0004 a0005c0015t0004	a0001c0001t0004g0292 a0005c0015t0004g0204 a0001c0001t0004g0292 a0005c0015t0004g0204	2	259	0.0077	-15	c.-11 others(24): Show c.-117_-103delGGCGGCGGCGGCGGC	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/17	103	INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	7089532	CCCCATCC others(8): Show CCCCATCCCATCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02280.hp1 HG02280.hp2 others(9): Show HG02004.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02622.hp1 HG02630.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0015 a0002c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 others(9): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0001c0003t0008 a0001c0003t0010 a0001c0006t0001 a0001c0015t0006 a0002c0004t0017	a0001c0001t0004g0034 a0001c0001t0005g0038 a0001c0001t0011g0058 others(9): Show a0001c0001t0004g0034 a0001c0001t0005g0038 a0001c0001t0011g0058 a0001c0001t0012g0019 a0001c0002t0003g0025 a0001c0002t0006g0008 a0001c0003t0001g0004 a0001c0003t0008g0032 a0001c0003t0010g0035 a0001c0006t0001g0055 a0001c0015t0006g0043 a0002c0004t0017g0042	12	29	0.4138	-15	c.235 others(32): Show c.235-1729_235-1715delCATCCCATCCCATCC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7196672	TGCTAAGG others(8): Show TGCTAAGGGTTGTTGA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	58	0.0172	-15	c.303 others(34): Show c.303-52816_303-52802delTAAGGGTTGTTGAGC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7284171	CTTCTTCT others(8): Show CTTCTTCTTATTATTA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0026 a0001c0017t0026	a0001c0017t0026g0027 a0001c0017t0026g0027	1	55	0.0182	-15	c.438 others(34): Show c.438+34548_438+34562delCTTCTTATTATTATT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7310632	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	58	0.0172	-15	c.438 others(34): Show c.438+61022_438+61036delTTTCTTTCTTTCTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7690132	CAGCCTAG others(8): Show CAGCCTAGGCAACAAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp1 HG03453.hp2 HG02280.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0008 a0001c0002t0006 a0001c0003t0008 a0001c0001t0008 a0001c0002t0006 a0001c0003t0008	a0001c0001t0008g0003 a0001c0002t0006g0008 a0001c0003t0008g0032 a0001c0001t0008g0003 a0001c0002t0006g0008 a0001c0003t0008g0032	3	58	0.0517	-15	c.291 others(36): Show c.2914+12403_2914+12417delCTAGGCAACAAGAGC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND1_chr12_67264358_67324953	67268480	TACTAAGG others(8): Show TACTAAGGTCCTGCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02965.hp1 HG02976.hp1 others(1): Show HG02886.hp1 HG02965.hp1 HG02976.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0037 a0001c0001t0007 a0001c0001t0037	a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0064 others(1): Show a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0064 a0001c0001t0037g0063	4	326	0.0123	-15	c.-12 others(26): Show c.-1237_-1223delACTAAGGTCCTGCTG	CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding		877		chr12	TogoVar
CANT1_chr17_78986716_79014764	79003997	GGAGGGGA others(8): Show GGAGGGGAGTTAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	392	0.0026	-15	c.-14 others(34): Show c.-147+5652_-147+5666delTTCCTAACTCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004097	GGAGGGGA others(8): Show GGAGGGGAGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02559.hp2 others(7): Show HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0105 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0002t0002g0033	10	388	0.0258	-15	c.-14 others(34): Show c.-147+5552_-147+5566delTCCCTAACTCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004171	GGTTAGGG others(8): Show GGTTAGGGAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp1 HG02970.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0172 a0001c0002t0003g0177 a0001c0002t0003g0172 a0001c0002t0003g0177	2	385	0.0052	-15	c.-14 others(34): Show c.-147+5478_-147+5492delTCCCCTCTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004207	GGAGGGGA others(8): Show GGAGGGGAGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG01175.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0004g0203 a0001c0001t0001g0015 a0001c0001t0004g0203	2	392	0.0051	-15	c.-14 others(34): Show c.-147+5442_-147+5456delTCCCTAACTCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004243	GAGCTAGG others(8): Show GAGCTAGGGAGAGGAC	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0198 a0001c0002t0009g0198	1	392	0.0026	-15	c.-14 others(34): Show c.-147+5406_-147+5420delGTCCTCTCCCTAGCT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004343	AGTTAGGG others(8): Show AGTTAGGGAGAGGGGG	A A	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	379	0.0026	-15	c.-14 others(34): Show c.-147+5306_-147+5320delCCCCCTCTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004465	GGAGGGGA others(8): Show GGAGGGGAGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	383	0.0026	-15	c.-14 others(34): Show c.-147+5184_-147+5198delTCCCTAACTCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004482	AGGGGAGT others(8): Show AGGGGAGTTAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02965.hp2 others(2): Show HG01243.hp1 HG01891.hp2 HG02965.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0005 a0001c0001t0004 a0001c0002t0005	a0001c0001t0004g0203 a0001c0002t0005g0043 a0001c0002t0005g0152 others(1): Show a0001c0001t0004g0203 a0001c0002t0005g0043 a0001c0002t0005g0152 a0001c0002t0005g0154	5	380	0.0132	-15	c.-14 others(34): Show c.-147+5167_-147+5181delCCTCCCTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004555	AGGGGAGT others(8): Show AGGGGAGTTAGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	387	0.0026	-15	c.-14 others(34): Show c.-147+5094_-147+5108delCCTCCCTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004609	GGAGGGGA others(8): Show GGAGGGGAGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG02723.hp1 others(3): Show HG00639.hp1 HG01243.hp1 HG02723.hp1 HG02965.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0005 a0001c0001t0004 a0001c0002t0005	a0001c0001t0004g0053 a0001c0002t0005g0043 a0001c0002t0005g0152 others(1): Show a0001c0001t0004g0053 a0001c0002t0005g0043 a0001c0002t0005g0152 a0001c0002t0005g0154	6	388	0.0155	-15	c.-14 others(34): Show c.-147+5040_-147+5054delTCCCTAACTCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004683	GGGGAGTT others(8): Show GGGGAGTTAGGGAGAT	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	385	0.0026	-15	c.-14 others(34): Show c.-147+4966_-147+4980delATCTCCCTAACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004741	GGGGAGTT others(8): Show GGGGAGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	392	0.0026	-15	c.-14 others(34): Show c.-147+4908_-147+4922delTTCTCCCTAACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005012	GGGGAGTT others(8): Show GGGGAGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0170 a0001c0002t0003g0170	1	343	0.0029	-15	c.-14 others(34): Show c.-147+4637_-147+4651delTTCTCCCTAACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005027	AGGGAGTT others(8): Show AGGGAGTTAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00544.hp2 others(35): Show HG00323.hp2 HG00423.hp2 HG00544.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02257.hp1 HG02280.hp1 HG02683.hp1 HG02735.hp1 HG03540.hp2 HG03669.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 NA18941.hp1 NA18947.hp1 NA18959.hp2 NA18967.hp1 NA18969.hp1 NA18982.hp2 NA18990.hp1 NA18997.hp2 NA19054.hp2 NA19055.hp2 NA19068.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0001t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0002t0002g0037 a0001c0002t0005g0132	38	318	0.1195	-15	c.-14 others(34): Show c.-147+4622_-147+4636delCTCTCCCTAACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005046	AGCTAGGG others(8): Show AGCTAGGGAGAGGGGG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0168 a0001c0002t0003g0168	1	325	0.0031	-15	c.-14 others(34): Show c.-147+4603_-147+4617delCCCCCTCTCCCTAGC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005201	GGGGAGTT others(8): Show GGGGAGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03041.hp2 HG01123.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0201 a0001c0002t0011g0217 a0001c0002t0011g0201 a0001c0002t0011g0217	2	391	0.0051	-15	c.-14 others(34): Show c.-147+4448_-147+4462delTTCTCCCTAACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005215	AAGGGAGT others(8): Show AAGGGAGTTAGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	391	0.0026	-15	c.-14 others(34): Show c.-147+4434_-147+4448delCCTCCCTAACTCCCT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005245	GTGAGAGT others(8): Show GTGAGAGTTAAAGAGC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp1 HG02559.hp1 others(5): Show HG02015.hp2 HG02132.hp1 HG02559.hp1 HG03669.hp1 HG03927.hp2 NA18906.hp2 NA19002.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010	a0001c0003t0002g0030 a0001c0003t0002g0090 a0001c0003t0002g0091 others(3): Show a0001c0003t0002g0030 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0006g0054 a0001c0003t0010g0089 a0001c0003t0010g0092	8	392	0.0204	-15	c.-14 others(34): Show c.-147+4404_-147+4418delGCTCTTTAACTCTCA	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAP2_chr6_17388595_17562780	17482507	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01884.hp2 others(11): Show HG00735.hp2 HG01109.hp2 HG01884.hp2 HG01891.hp1 HG02486.hp2 HG02615.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp2 NA18522.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0003t0002 a0002c0004t0001 a0002c0012t0001	a0001c0001t0001g0069 a0001c0001t0001g0091 a0001c0001t0001g0196 others(11): Show a0001c0001t0001g0069 a0001c0001t0001g0091 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0002g0003 a0001c0001t0002g0199 a0001c0001t0005g0200 a0001c0001t0007g0201 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0003t0002g0048 a0001c0003t0002g0131 a0002c0004t0001g0073 a0002c0012t0001g0014	14	35	0.4000	-15	c.300 others(34): Show c.300+19452_300+19466delAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38728410	GCTCCTCC others(8): Show GCTCCTCCTCCTCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03579.hp1 HG02970.hp2 HG03579.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0022 a0001c0001 a0017c0022	a0001c0001t0001 a0017c0022t0001 a0001c0001t0001 a0017c0022t0001	a0001c0001t0001g0229 a0017c0022t0001g0228 a0001c0001t0001g0229 a0017c0022t0001g0228	2	192	0.0104	-15	c.24 others(26): Show c.2427_*2441delGAGGAGGAGGAGGAG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		1781		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735732	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG02071.hp2 others(13): Show HG00558.hp2 HG00639.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02922.hp1 HG03927.hp1 NA18612.hp1 NA18953.hp1 NA18961.hp1 NA18966.hp1 NA18975.hp1 NA18993.hp2 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0002g0165 others(10): Show a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0002g0165 a0001c0002t0002g0170 a0001c0002t0002g0177 a0001c0002t0002g0180 a0001c0002t0002g0186 a0001c0002t0002g0188 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0233 a0001c0003t0002g0159	16	335	0.0478	-15	c.158 others(32): Show c.1584-203_1584-189delCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735752	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01891.hp2 HG02055.hp1 others(22): Show HG00642.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA18940.hp1 NA19240.hp1 NA21309.hp1	a0001 a0014 a0018 a0001 a0014 a0018	a0001c0002 a0001c0003 a0014c0037 others(1): Show a0001c0002 a0001c0003 a0014c0037 a0018c0015	a0001c0002t0002 a0001c0003t0002 a0014c0037t0002 others(1): Show a0001c0002t0002 a0001c0003t0002 a0014c0037t0002 a0018c0015t0002	a0001c0002t0002g0203 a0001c0003t0002g0008 a0001c0003t0002g0010 others(14): Show a0001c0002t0002g0203 a0001c0003t0002g0008 a0001c0003t0002g0010 a0001c0003t0002g0011 a0001c0003t0002g0018 a0001c0003t0002g0149 a0001c0003t0002g0154 a0001c0003t0002g0172 a0001c0003t0002g0185 a0001c0003t0002g0193 a0001c0003t0002g0205 a0001c0003t0002g0211 a0001c0003t0002g0213 a0001c0003t0002g0224 a0001c0003t0002g0226 a0014c0037t0002g0158 a0018c0015t0002g0047	25	339	0.0737	-15	c.158 others(32): Show c.1584-223_1584-209delCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735777	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0008 a0004c0008t0008	a0004c0008t0008g0246 a0004c0008t0008g0246	1	338	0.0030	-15	c.158 others(32): Show c.1584-248_1584-234delCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735822	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01123.hp1 HG01884.hp1 others(9): Show HG00438.hp1 HG01123.hp1 HG01884.hp1 HG02145.hp2 HG03540.hp2 NA18945.hp2 NA18953.hp2 NA18990.hp2 NA19030.hp2 NA19063.hp1 NA19083.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0013 a0004c0008 a0001c0001 a0001c0013 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 a0004c0008t0001	a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0003g0009 others(6): Show a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0003g0009 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0013t0001g0235 a0004c0008t0001g0142	12	339	0.0354	-15	c.158 others(32): Show c.1583+273_1584-279delCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735853	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0239 a0001c0001t0006g0239	1	339	0.0029	-15	c.158 others(32): Show c.1583+242_1583+256delGCAGAACCACCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735867	GCGGGCGG others(8): Show GCGGGCGGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03669.hp2 HG02602.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0110 a0002c0004t0001g0060 a0001c0001t0001g0110 a0002c0004t0001g0060	2	325	0.0062	-15	c.158 others(32): Show c.1583+228_1583+242delGCCCCGCCCCGCCCG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735868	CGGGCGGG others(8): Show CGGGCGGGGCGGGGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(63): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG02027.hp1 HG02145.hp2 HG02523.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18953.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18967.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0006 a0001c0013 others(3): Show a0001c0001 a0001c0006 a0001c0013 a0002c0004 a0004c0008 a0007c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 a0001c0006t0001 a0001c0006t0004 a0001c0013t0001 a0002c0004t0001 a0004c0008t0001 a0007c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0215 a0001c0001t0003g0009 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0010g0264 a0001c0001t0010g0267 a0001c0001t0017g0128 a0001c0006t0001g0002 a0001c0006t0001g0093 a0001c0006t0001g0094 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0006t0001g0126 a0001c0006t0001g0127 a0001c0006t0001g0141 a0001c0006t0004g0026 a0001c0013t0001g0235 a0002c0004t0001g0074 a0004c0008t0001g0142 a0004c0008t0001g0147 a0007c0012t0001g0013	66	227	0.2907	-15	c.158 others(32): Show c.1583+227_1583+241delCGCCCCGCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735922	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03490.hp1 HG00735.hp2 HG03490.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0063 a0002c0004t0001g0070 a0002c0004t0001g0063 a0002c0004t0001g0070	2	333	0.0060	-15	c.158 others(32): Show c.1583+173_1583+187delCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN13_chr2_30717771_30812446	30728414	AATAATAT others(8): Show AATAATATGGGAACCC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0371 a0002c0003t0001g0371	1	382	0.0026	-15	c.30 others(32): Show c.30+2301_*30+2315delGGGTTCCCATATTAT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	22/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30759054	CCCTCCCT others(8): Show CCCTCCCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(125): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 NA18522.hp1 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18999.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0014 a0016	a0001c0001 a0001c0002 a0001c0013 others(10): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0003c0004 a0003c0010 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0008c0014 a0014c0011 a0016c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0013t0002 a0002c0003t0001 a0002c0003t0002 a0003c0004t0002 a0003c0004t0005 a0003c0010t0002 a0004c0005t0001 a0005c0006t0001 a0005c0006t0004 a0006c0007t0005 a0007c0008t0001 a0008c0014t0002 a0014c0011t0002 a0016c0019t0001	a0001c0001t0001g0078 a0001c0001t0001g0129 a0001c0001t0001g0131 others(121): Show a0001c0001t0001g0078 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0285 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0128 a0001c0001t0002g0168 a0001c0001t0002g0185 a0001c0001t0002g0216 a0001c0001t0002g0223 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0244 a0001c0001t0003g0014 a0001c0001t0003g0036 a0001c0001t0003g0045 a0001c0001t0003g0083 a0001c0001t0003g0097 a0001c0001t0003g0107 a0001c0001t0003g0116 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0187 a0001c0001t0003g0245 a0001c0001t0003g0323 a0001c0001t0003g0325 a0001c0001t0003g0335 a0001c0001t0003g0372 a0001c0001t0004g0095 a0001c0001t0005g0202 a0001c0001t0005g0291 a0001c0001t0006g0046 a0001c0001t0006g0304 a0001c0001t0006g0343 a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0021 a0001c0002t0001g0049 a0001c0002t0001g0063 a0001c0002t0001g0184 a0001c0002t0001g0249 a0001c0002t0001g0292 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0310 a0001c0002t0002g0013 a0001c0002t0002g0084 a0001c0002t0002g0208 a0001c0002t0002g0259 a0001c0002t0002g0284 a0001c0002t0002g0364 a0001c0002t0003g0031 a0001c0002t0003g0033 a0001c0002t0004g0040 a0001c0002t0004g0073 a0001c0002t0005g0017 a0001c0002t0005g0053 a0001c0002t0005g0114 a0001c0002t0005g0314 a0001c0002t0005g0336 a0001c0002t0005g0346 a0001c0002t0006g0179 a0001c0002t0010g0358 a0001c0013t0002g0093 a0002c0003t0001g0022 a0002c0003t0001g0099 a0002c0003t0001g0301 a0002c0003t0001g0317 a0002c0003t0001g0327 a0002c0003t0002g0018 a0003c0004t0002g0004 a0003c0004t0002g0035 a0003c0004t0002g0055 a0003c0004t0002g0060 a0003c0004t0002g0066 a0003c0004t0002g0075 a0003c0004t0002g0098 a0003c0004t0002g0100 a0003c0004t0002g0101 a0003c0004t0002g0102 a0003c0004t0002g0133 a0003c0004t0002g0136 a0003c0004t0002g0164 a0003c0004t0002g0165 a0003c0004t0002g0176 a0003c0004t0002g0206 a0003c0004t0002g0207 a0003c0004t0002g0220 a0003c0004t0002g0251 a0003c0004t0002g0253 a0003c0004t0002g0256 a0003c0004t0002g0262 a0003c0004t0002g0293 a0003c0004t0002g0329 a0003c0004t0005g0118 a0003c0004t0005g0367 a0003c0010t0002g0059 a0004c0005t0001g0105 a0005c0006t0001g0069 a0005c0006t0001g0070 a0005c0006t0001g0111 a0005c0006t0001g0212 a0005c0006t0001g0266 a0005c0006t0001g0267 a0005c0006t0001g0307 a0005c0006t0004g0152 a0006c0007t0005g0263 a0006c0007t0005g0264 a0007c0008t0001g0277 a0007c0008t0001g0281 a0008c0014t0002g0058 a0014c0011t0002g0132 a0016c0019t0001g0139	128	382	0.3351	-15	c.775 others(30): Show c.775-932_775-918delAGGGAGGGAGGGAGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800149	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0277 a0007c0008t0001g0277	1	379	0.0026	-15	c.-33 others(32): Show c.-33+7138_-33+7152delCTTTCTTTCTTTCTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN15_chr16_522712_559636	542056	TGGACGTG others(8): Show TGGACGTGGGGCCACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00741.hp2 others(47): Show HG00280.hp1 HG00323.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp2 HG01981.hp2 HG02074.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG06807.hp2 NA18522.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18975.hp1 NA18984.hp2 NA18986.hp2 NA19003.hp1 NA19004.hp1 NA19077.hp1 NA19087.hp1 NA19240.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0011 a0019	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0064 a0002c0015 a0003c0010 a0003c0011 a0003c0039 a0003c0040 a0004c0018 a0004c0019 a0005c0038 a0008c0024 a0011c0066 a0019c0075	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0019 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0006t0003 a0001c0064t0001 a0002c0015t0004 a0003c0010t0001 a0003c0011t0001 a0003c0039t0001 a0003c0040t0001 a0004c0018t0001 a0004c0018t0014 a0004c0019t0003 a0005c0038t0001 a0008c0024t0001 a0008c0024t0002 a0011c0066t0001 a0019c0075t0001	a0001c0001t0001g0249 a0001c0001t0001g0382 a0001c0001t0002g0295 others(43): Show a0001c0001t0001g0249 a0001c0001t0001g0382 a0001c0001t0002g0295 a0001c0001t0003g0254 a0001c0002t0001g0248 a0001c0002t0003g0212 a0001c0002t0003g0299 a0001c0002t0004g0253 a0001c0002t0004g0255 a0001c0002t0004g0256 a0001c0002t0019g0396 a0001c0003t0001g0235 a0001c0003t0001g0297 a0001c0003t0003g0004 a0001c0004t0001g0216 a0001c0004t0001g0268 a0001c0004t0003g0009 a0001c0004t0003g0043 a0001c0004t0003g0296 a0001c0004t0003g0376 a0001c0004t0003g0377 a0001c0004t0003g0378 a0001c0004t0003g0379 a0001c0004t0003g0380 a0001c0005t0001g0021 a0001c0005t0001g0030 a0001c0006t0003g0007 a0001c0006t0003g0269 a0001c0006t0003g0276 a0001c0064t0001g0029 a0002c0015t0004g0252 a0003c0010t0001g0022 a0003c0010t0001g0032 a0003c0010t0001g0033 a0003c0010t0001g0034 a0003c0011t0001g0039 a0003c0039t0001g0031 a0003c0040t0001g0301 a0004c0018t0001g0273 a0004c0018t0014g0008 a0004c0019t0003g0274 a0005c0038t0001g0035 a0008c0024t0001g0386 a0008c0024t0002g0293 a0011c0066t0001g0247 a0019c0075t0001g0028	50	408	0.1225	-15	c.-22 others(32): Show c.-22-4748_-22-4734delACAGGACGTGGGGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN1_chr11_65176928_65217006	65200932	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02559.hp1 others(5): Show HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02965.hp2 HG03225.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 others(5): Show a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0011t0001g0278	8	155	0.0516	-15	c.116 others(34): Show c.1166-3735_1166-3721delTTTTTTTTTTTTTTT	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN3_chr15_42354501_42417317	42370878	TCATAACA others(8): Show TCATAACATCAGAGCA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG02055.hp1 others(20): Show HG00642.hp1 HG01168.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03195.hp1 HG03486.hp1 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG06807.hp1 NA18906.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0010 a0012 a0016	a0001c0020 a0002c0006 a0002c0010 others(6): Show a0001c0020 a0002c0006 a0002c0010 a0003c0005 a0005c0008 a0007c0016 a0010c0018 a0012c0017 a0016c0019	a0001c0020t0001 a0002c0006t0001 a0002c0010t0001 others(6): Show a0001c0020t0001 a0002c0006t0001 a0002c0010t0001 a0003c0005t0001 a0005c0008t0001 a0007c0016t0001 a0010c0018t0003 a0012c0017t0003 a0016c0019t0003	a0001c0020t0001g0034 a0002c0006t0001g0002 a0002c0006t0001g0053 others(19): Show a0001c0020t0001g0034 a0002c0006t0001g0002 a0002c0006t0001g0053 a0002c0006t0001g0054 a0002c0010t0001g0031 a0002c0010t0001g0032 a0002c0010t0001g0033 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0016 a0003c0005t0001g0017 a0003c0005t0001g0018 a0003c0005t0001g0019 a0005c0008t0001g0199 a0005c0008t0001g0200 a0005c0008t0001g0203 a0005c0008t0001g0204 a0007c0016t0001g0201 a0007c0016t0001g0202 a0010c0018t0003g0013 a0012c0017t0003g0012 a0016c0019t0003g0011	23	304	0.0757	-15	c.309 others(34): Show c.309+10782_309+10796delTAACATCAGAGCACA	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN3_chr15_42354501_42417317	42394687	GGGAACAG others(8): Show GGGAACAGTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02080.hp1 HG02071.hp2 HG02080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0174 a0002c0002t0001g0128 a0001c0001t0001g0174 a0002c0002t0001g0128	2	304	0.0066	-15	c.111 others(32): Show c.1115+348_1115+362delGAACAGTATTATTAG	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN5_chr11_77061971_77131155	77093583	AGTCTGTG others(8): Show AGTCTGTGTCTGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG00673.hp2 others(75): Show HG00423.hp2 HG00639.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 NA18522.hp2 NA18942.hp1 NA18945.hp1 NA18956.hp2 NA18966.hp1 NA18968.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18997.hp2 NA18999.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0003c0009 a0004c0005 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0052 a0001c0001t0055 a0001c0002t0014 a0001c0007t0026 a0002c0003t0001 a0002c0003t0007 a0002c0003t0011 a0003c0009t0029 a0004c0005t0040 a0013c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0045 a0001c0001t0001g0060 others(73): Show a0001c0001t0001g0006 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0174 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0277 a0001c0001t0001g0299 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0002g0024 a0001c0001t0002g0052 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0003g0015 a0001c0001t0003g0040 a0001c0001t0003g0123 a0001c0001t0003g0180 a0001c0001t0003g0267 a0001c0001t0004g0083 a0001c0001t0004g0294 a0001c0001t0005g0171 a0001c0001t0006g0043 a0001c0001t0006g0182 a0001c0001t0006g0205 a0001c0001t0006g0218 a0001c0001t0006g0226 a0001c0001t0006g0342 a0001c0001t0007g0241 a0001c0001t0007g0282 a0001c0001t0007g0283 a0001c0001t0008g0148 a0001c0001t0008g0343 a0001c0001t0010g0034 a0001c0001t0010g0264 a0001c0001t0011g0232 a0001c0001t0011g0295 a0001c0001t0011g0297 a0001c0001t0015g0341 a0001c0001t0016g0244 a0001c0001t0017g0231 a0001c0001t0029g0361 a0001c0001t0034g0317 a0001c0001t0035g0312 a0001c0001t0037g0109 a0001c0001t0038g0131 a0001c0001t0039g0158 a0001c0001t0052g0362 a0001c0001t0055g0066 a0001c0002t0014g0183 a0001c0002t0014g0211 a0001c0002t0014g0220 a0001c0007t0026g0017 a0001c0007t0026g0018 a0002c0003t0001g0210 a0002c0003t0007g0296 a0002c0003t0011g0233 a0003c0009t0029g0359 a0004c0005t0040g0076 a0013c0010t0001g0310	78	377	0.2069	-15	c.166 others(28): Show c.166-84_166-70delCGTCTGTGTCTGTCA	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77093598	CGTCTGTG others(8): Show CGTCTGTGTCTGTCAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG03139.hp2 HG01496.hp2 HG02258.hp1 HG03139.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0005c0006t0011 a0001c0001t0001 a0001c0001t0002 a0005c0006t0011	a0001c0001t0001g0214 a0001c0001t0002g0315 a0005c0006t0011g0355 a0001c0001t0001g0214 a0001c0001t0002g0315 a0005c0006t0011g0355	3	378	0.0079	-15	c.166 others(28): Show c.166-79_166-65delGTGTCTGTCATGTCT	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar

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