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
CAMK1D_chr10_12344547_12840545	12734443	CATATGTG others(21): Show CATATGTGTATATATACACATACACATAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0145 a0001c0001t0035g0145	1	212	0.0047	-28	c.300 others(47): Show c.300-26504_300-26477delATATGTGTATATATACACATACACAT AT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMK4_chr5_111219384_111499886	111266192	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	2	0.5000	-28	c.161 others(47): Show c.161+41571_161+41598delCACACACACACACACACACACACACA CA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKMT_chr2_44356947_44777592	44445645	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01192.hp2 others(13): Show HG00741.hp2 HG01109.hp1 HG01192.hp2 HG02015.hp1 HG02258.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03704.hp2 HG03927.hp1 NA18522.hp1 NA19054.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0119 a0001c0001t0001g0120 others(13): Show a0001c0001t0001g0046 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0002g0173 a0001c0001t0002g0181	16	24	0.6667	-28	c.376 others(47): Show c.376+55361_376+55388delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44673496	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	198	0.0051	-28	c.377 others(47): Show c.377-30777_377-30750delGAAGGAAGGAAGGAAGGAGGGAAGGA AG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200816935	CGTGTGTA others(21): Show CGTGTGTATGTGTGTACACACACACGCGT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	360	0.0028	-28	c.645 others(45): Show c.645+1296_645+1323delGTATGTGTGTACACACACACGCGTGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816942	ATGTGTGT others(21): Show ATGTGTGTACACACACACGCGTGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0186 a0001c0001t0005g0186	1	360	0.0028	-28	c.645 others(45): Show c.645+1302_645+1329delGTGTACACACACACGCGTGTGTATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	6926438	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	16	0.0625	-28	c.234 others(49): Show c.234+101252_234+101279delTTCTTTCTTTCTTTCTTTCTTTCT TTCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79004179	AGAGGGGA others(21): Show AGAGGGGAGTTAGGGAGAGGGAGGTTAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp1 HG01891.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0078 a0001c0002t0005g0079 a0001c0002t0005g0078 a0001c0002t0005g0079	2	392	0.0051	-28	c.-14 others(47): Show c.-147+5457_-147+5484delCCTAACCTCCCTCTCCCTAACTCCCC TC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004308	AGAGGGGA others(21): Show AGAGGGGAGTTAGGGAGAGGGAGGTTAGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-28	c.-14 others(47): Show c.-147+5328_-147+5355delCCTAACCTCCCTCTCCCTAACTCCCC TC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004384	AGGGAGTT others(21): Show AGGGAGTTAGGGAGGGGAGTTAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18981.hp1 NA19079.hp2 NA18943.hp1 NA18981.hp1 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0026 a0001c0003t0002g0067 a0001c0003t0002g0026 a0001c0003t0002g0067	3	364	0.0082	-28	c.-14 others(47): Show c.-147+5252_-147+5279delCTCTCCCTAACTCCCCTCCCTAACTC CC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004449	AGGAGAGG others(21): Show AGGAGAGGGGAGTTAGGGAGGGGAGTTAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	341	0.0029	-28	c.-14 others(47): Show c.-147+5187_-147+5214delCTAACTCCCCTCCCTAACTCCCCTCT CC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004717	GGTTAGGG others(21): Show GGTTAGGGAGAGGGGAGTTAGGGAGGGGA	G G	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0159 a0001c0002t0005g0159	1	356	0.0028	-28	c.-14 others(47): Show c.-147+4919_-147+4946delTCCCCTCCCTAACTCCCCTCTCCCTA AC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004728	GGGGAGTT others(21): Show GGGGAGTTAGGGAGGGGAGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00621.hp2 others(36): Show HG00140.hp1 HG00609.hp1 HG00621.hp2 HG01433.hp2 HG01515.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02135.hp1 HG03017.hp2 HG03491.hp1 HG03831.hp2 HG04184.hp2 NA18747.hp1 NA18906.hp1 NA18946.hp1 NA18947.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18977.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19056.hp1 NA19058.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0002 a0001c0002t0006 a0001c0003t0002 others(1): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0002 a0001c0006t0002	a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0031 others(18): Show a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0138 a0001c0002t0006g0051 a0001c0002t0006g0189 a0001c0003t0002g0006 a0001c0003t0002g0025 a0001c0003t0002g0058 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0066 a0001c0003t0002g0068 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0006t0002g0065	39	384	0.1016	-28	c.-14 others(47): Show c.-147+4908_-147+4935delTTCTCCCTAACTCCCCTCCCTAACTC CC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004811	GGAGGGGA others(21): Show GGAGGGGAGTTAGGGAGGGGAGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20805.hp1 HG01361.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0009 a0001c0002t0007 a0001c0002t0009	a0001c0002t0007g0114 a0001c0002t0009g0202 a0001c0002t0007g0114 a0001c0002t0009g0202	2	380	0.0053	-28	c.-14 others(47): Show c.-147+4825_-147+4852delTCCCTAACTCCCCTCCCTAACTCCCC TC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004988	GGTTAGGG others(21): Show GGTTAGGGAGAGGGGAGTTAGGGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01516.hp1 HG01517.hp2 others(31): Show HG01109.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02135.hp2 HG02300.hp1 HG02602.hp1 HG02630.hp2 HG02735.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp2 HG03471.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp1 NA18522.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp1 NA19004.hp1 NA19005.hp1 NA19056.hp2 NA19066.hp1 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0082 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0023 a0001c0002t0003g0052 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0190 a0001c0002t0005g0027 a0001c0002t0005g0078 a0001c0002t0005g0079 a0001c0002t0005g0084 a0001c0002t0005g0085 a0001c0002t0012g0048	34	341	0.0997	-28	c.-14 others(47): Show c.-147+4648_-147+4675delTCCCCTCCCTAACTCCCCTCTCCCTA AC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAP1_chr1_40035729_40077648	40048314	ATTACAGG others(21): Show ATTACAGGCATGAGCCATTGCACCTGGCC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01071.hp1 others(86): Show HG00408.hp2 HG00597.hp2 HG01071.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG02015.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18981.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 others(10): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0008t0001	a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0020 others(65): Show a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0008g0018 a0001c0001t0008g0220 a0001c0001t0011g0013 a0001c0001t0011g0054 a0001c0001t0012g0183 a0001c0001t0012g0192 a0001c0001t0012g0229 a0001c0001t0018g0225 a0001c0001t0019g0231 a0001c0001t0020g0195 a0001c0001t0021g0184 a0001c0001t0023g0053 a0001c0002t0010g0045 a0001c0002t0010g0046 a0001c0002t0013g0047 a0001c0002t0013g0227 a0001c0002t0015g0044 a0001c0008t0001g0188	89	376	0.2367	-28	c.-11 others(45): Show c.-11+7543_-11+7570delTACAGGCATGAGCCATTGCACCTGGCCT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP2_chr6_17388595_17562780	17500340	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp2 HG03540.hp1 HG02280.hp2 HG03453.hp2 HG03540.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0059 a0003c0007t0001g0066 a0003c0007t0001g0205 a0003c0007t0001g0059 a0003c0007t0001g0066 a0003c0007t0001g0205	3	19	0.1579	-28	c.301 others(45): Show c.301-6812_301-6785delATATATATATATATATATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN13_chr2_30717771_30812446	30759022	TCTTCCTT others(21): Show TCTTCCTTCCCTCCCTCCCTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp1 HG03486.hp2 others(6): Show HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG03834.hp2 NA18952.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0146 others(6): Show a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0238 a0001c0001t0001g0282 a0001c0001t0002g0276 a0001c0002t0002g0062 a0001c0002t0002g0330 a0001c0002t0002g0369	9	321	0.0280	-28	c.775 others(43): Show c.775-913_775-886delGAAGGAAGGAGGGAGGGAGGGAAGGAAG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30759028	TTCCCTCC others(21): Show TTCCCTCCCTCCCTCCTTCCTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG03098.hp2 others(1): Show HG01884.hp1 HG02055.hp1 HG03098.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0280 a0001c0001t0002g0226 a0001c0001t0002g0306 others(1): Show a0001c0001t0001g0280 a0001c0001t0002g0226 a0001c0001t0002g0306 a0001c0001t0005g0353	4	327	0.0122	-28	c.775 others(43): Show c.775-919_775-892delGGGAAGGAAGGAAGGAGGGAGGGAGGGA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30759045	TCCTTCCT others(21): Show TCCTTCCTTCCCTCCCTCCCTCCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02109.hp2 HG02145.hp2 others(8): Show HG00738.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG03453.hp2 HG03486.hp1 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0001 a0001c0001t0002g0231 a0001c0001t0002g0232 others(6): Show a0001c0001t0002g0001 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0294 a0001c0001t0002g0373 a0001c0001t0003g0340 a0001c0001t0008g0080	11	381	0.0289	-28	c.775 others(43): Show c.775-936_775-909delGAGGAGGGAGGGAGGGAGGGAAGGAAGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30759049	TCCTTCCC others(21): Show TCCTTCCCTCCCTCCCTCCCTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01109.hp2 others(44): Show HG00642.hp1 HG01069.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp2 HG02135.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 NA18941.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18981.hp1 NA18993.hp1 NA18994.hp1 NA19030.hp1 NA19067.hp2 NA19081.hp2 NA19082.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0003c0004t0002 a0003c0004t0005	a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0154 others(43): Show a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0171 a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0004g0087 a0001c0001t0005g0088 a0001c0001t0005g0243 a0001c0001t0006g0127 a0001c0002t0001g0007 a0001c0002t0001g0034 a0001c0002t0001g0085 a0001c0002t0001g0167 a0001c0002t0001g0173 a0001c0002t0001g0333 a0001c0002t0002g0067 a0001c0002t0002g0074 a0001c0002t0002g0094 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0140 a0001c0002t0002g0150 a0001c0002t0002g0156 a0001c0002t0002g0163 a0001c0002t0002g0172 a0001c0002t0002g0188 a0001c0002t0002g0222 a0001c0002t0002g0270 a0001c0002t0002g0356 a0001c0002t0003g0158 a0001c0002t0004g0359 a0001c0002t0005g0029 a0001c0002t0005g0279 a0001c0002t0005g0345 a0001c0002t0012g0240 a0003c0004t0002g0196 a0003c0004t0005g0342	47	382	0.1230	-28	c.775 others(43): Show c.775-940_775-913delGAGGGAGGAGGGAGGGAGGGAGGGAAGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30796131	TATATATA others(21): Show TATATATATGTGTGTATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	382	0.0026	-28	c.-32 others(45): Show c.-32-8802_-32-8775delGTATATATATATATACACACATATATAT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN9_chr1_230742388_230806989	230751597	GAAAGAAA others(21): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04199.hp2 HG02698.hp1 HG04199.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0123 a0003c0004t0001g0134 a0003c0004t0001g0123 a0003c0004t0001g0134	2	389	0.0051	-28	c.214 others(45): Show c.214-3738_214-3711delAAGAAAGAAAGAGAAAGAAAGAAAGAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751605	GAAAGAGA others(21): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	350	0.0029	-28	c.214 others(45): Show c.214-3730_214-3703delAAGAGAAAGAAAGAAAGAAAGAAAGAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230757040	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG03130.hp1 others(2): Show HG01243.hp2 HG02145.hp1 HG03130.hp1 HG03195.hp2 HG03540.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0002c0013 a0004c0007 a0001c0005 a0002c0013 a0004c0007	a0001c0005t0001 a0002c0013t0002 a0004c0007t0002 a0001c0005t0001 a0002c0013t0002 a0004c0007t0002	a0001c0005t0001g0075 a0001c0005t0001g0076 a0001c0005t0001g0077 others(2): Show a0001c0005t0001g0075 a0001c0005t0001g0076 a0001c0005t0001g0077 a0002c0013t0002g0161 a0004c0007t0002g0074	5	392	0.0128	-28	c.283 others(45): Show c.283+1636_283+1663delAAGGAAGGAAGGAAGGAAGGAAGGAAAG	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230769614	CACCTATC others(21): Show CACCTATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02071.hp2 HG02896.hp1 others(2): Show HG02055.hp2 HG02071.hp2 HG02896.hp1 HG02897.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0001 a0003c0004t0001 a0001c0005t0001 a0003c0004t0001	a0001c0005t0001g0047 a0001c0005t0001g0048 a0001c0005t0001g0049 others(2): Show a0001c0005t0001g0047 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0050 a0003c0004t0001g0115	5	305	0.0164	-28	c.789 others(43): Show c.789+353_789+380delCCTATCTATCTATCTATCTATCTATCTA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800231	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	274	0.0036	-28	c.204 others(47): Show c.2047-1291_2047-1264delAAAGAAAGAAAGAAAGAAAGAAAGAA AG	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800282	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA19088.hp2 NA20805.hp2 others(1): Show HG00738.hp1 NA19088.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0144 a0001c0002t0001g0237 a0001c0001t0001g0014 a0001c0001t0001g0144 a0001c0002t0001g0237	4	392	0.0102	-28	c.204 others(47): Show c.2047-1285_2047-1258delAGAAAGAAAGAAAGAAAGAAAGGAAA AA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPS2_chr12_75270979_75335324	75291567	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	171	0.0058	-28	c.112 others(45): Show c.1126+149_1126+176delTATATATATATATATATATATATATATA	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPZA2_chr7_116857587_116927049	116890543	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01192.hp1 HG01978.hp1 others(8): Show HG00609.hp1 HG01192.hp1 HG01978.hp1 HG02615.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03704.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0202 others(8): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0242 a0001c0001t0001g0253 a0001c0001t0001g0342 a0001c0001t0007g0117	11	352	0.0313	-28	c.103 others(45): Show c.103+2379_104-2398delCACATATATATATATATATATATATATA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CARD11_chr7_2901142_3048867	2933658	ATCTTTCT others(21): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18984.hp2 NA18982.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0161 a0001c0024t0001g0207 a0001c0001t0001g0161 a0001c0024t0001g0207	2	196	0.0102	-28	c.151 others(45): Show c.1518+767_1518+794delAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2959672	ACAGGGCC others(21): Show ACAGGGCCAGGGGTTGGGGCTGGGTGGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	320	0.0031	-28	c.-12 others(47): Show c.-125-1069_-125-1042delCCCCACCCAGCCCCAACCCCTGGCCC TG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD18_chr11_105132714_105144769	105144372	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	122	0.0082	-28	c.-46 others(39): Show c.-4674_-4647delATATATATATATATATATATATATATAT	CARD18	ENSG00000255501.3	transcript	ENST00000530950.2	protein_coding		4604		chr11	TogoVar
CARF_chr2_202907275_202993263	202980616	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00597.hp1 others(72): Show HG00323.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00741.hp2 HG01081.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01361.hp1 HG01516.hp2 HG01943.hp2 HG01975.hp1 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02602.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03834.hp1 HG04204.hp1 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0045 a0001c0001t0077 a0001c0001t0078 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0011t0006	a0001c0001t0001g0007 a0001c0001t0001g0128 a0001c0001t0001g0229 others(70): Show a0001c0001t0001g0007 a0001c0001t0001g0128 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0182 a0001c0001t0003g0202 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0005g0008 a0001c0001t0005g0115 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0005g0129 a0001c0001t0005g0133 a0001c0001t0005g0139 a0001c0001t0005g0144 a0001c0001t0005g0176 a0001c0001t0005g0206 a0001c0001t0005g0228 a0001c0001t0005g0230 a0001c0001t0006g0005 a0001c0001t0006g0031 a0001c0001t0006g0134 a0001c0001t0006g0140 a0001c0001t0006g0142 a0001c0001t0006g0200 a0001c0001t0006g0207 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0224 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0279 a0001c0001t0008g0030 a0001c0001t0008g0143 a0001c0001t0008g0215 a0001c0001t0008g0236 a0001c0001t0011g0178 a0001c0001t0011g0232 a0001c0001t0012g0029 a0001c0001t0012g0118 a0001c0001t0012g0199 a0001c0001t0012g0216 a0001c0001t0012g0223 a0001c0001t0012g0225 a0001c0001t0022g0214 a0001c0001t0023g0004 a0001c0001t0023g0187 a0001c0001t0031g0179 a0001c0001t0031g0181 a0001c0001t0033g0025 a0001c0001t0033g0027 a0001c0001t0034g0213 a0001c0001t0045g0221 a0001c0001t0077g0056 a0001c0001t0078g0026 a0001c0001t0081g0137 a0001c0001t0083g0136 a0001c0001t0085g0201 a0001c0001t0087g0184 a0001c0001t0088g0188 a0001c0001t0089g0123 a0001c0001t0090g0186 a0001c0001t0091g0217 a0001c0001t0092g0180 a0001c0011t0006g0231	75	88	0.8523	-28	c.155 others(45): Show c.1559-920_1559-893delTATATATATATATATATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARNMT1_chr9_74975790_75033293	75013992	AAAAAAAA others(21): Show AAAAAAAAAAAAACCACATCCACTTACTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp2 HG03579.hp2 HG01884.hp2 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0051 a0001c0001t0001g0178 a0001c0001t0005g0177 a0001c0001t0001g0051 a0001c0001t0001g0178 a0001c0001t0005g0177	3	364	0.0082	-28	c.590 others(45): Show c.590+2248_590+2275delAAGTAAGTGGATGTGGTTTTTTTTTTTT	CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7			chr9	TogoVar
CARS1_chr11_2995929_3062423	3032036	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03041.hp2 HG03139.hp2 HG01175.hp1 HG03041.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0062 a0001c0001t0001g0197 a0001c0003t0001g0186 a0001c0001t0001g0062 a0001c0001t0001g0197 a0001c0003t0001g0186	3	319	0.0094	-28	c.802 others(45): Show c.802-2621_802-2594delAGGAGGGAGGGAGGGAGGGAGGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3032040	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	304	0.0033	-28	c.802 others(45): Show c.802-2625_802-2598delAGGAAGGAGGGAGGGAGGGAGGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3032052	CTCCCTCC others(21): Show CTCCCTCCCTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	299	0.0033	-28	c.802 others(45): Show c.802-2637_802-2610delAGGAAGGAAGGAAGGAAGGAGGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	28	0.0357	-28	c.172 others(47): Show c.172+23391_172+23418delATATATATATATATATATATATATAT AT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASP5_chr11_104989243_105028168	105009720	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG02027.hp1 others(28): Show HG00621.hp1 HG01123.hp1 HG02027.hp1 HG02056.hp1 HG02109.hp1 HG02155.hp1 HG02258.hp2 HG02486.hp1 HG02602.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03486.hp2 HG03688.hp1 HG04115.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18984.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19043.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19083.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0003c0010 a0001c0001 a0003c0002 a0003c0010	a0001c0001t0001 a0003c0002t0001 a0003c0010t0001 a0001c0001t0001 a0003c0002t0001 a0003c0010t0001	a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0044 others(21): Show a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0199 a0003c0002t0001g0058 a0003c0002t0001g0151 a0003c0002t0001g0155 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0164 a0003c0002t0001g0190 a0003c0002t0001g0243 a0003c0002t0001g0244 a0003c0010t0001g0150 a0003c0010t0001g0169	31	255	0.1216	-28	c.8-7 others(39): Show c.8-768_8-741delATATATATATATATATATATATATATAT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP5_chr11_104989243_105028168	105009768	CACGTATA others(21): Show CACGTATATATATATATATACACACGTAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01106.hp1 HG01175.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0062 a0002c0009t0001g0062	2	394	0.0051	-28	c.8-8 others(39): Show c.8-816_8-789delATACGTGTGTATATATATATATATACGT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASZ1_chr1_10631604_10801646	10744703	TGGGCACC others(21): Show TGGGCACCACGAGCAGGCATGTCCTGGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG02132.hp2 others(4): Show HG00280.hp2 HG00741.hp2 HG02132.hp2 HG02145.hp1 HG02451.hp2 HG02723.hp1 HG02976.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0004 a0002c0007 others(3): Show a0001c0001 a0001c0004 a0002c0007 a0003c0006 a0005c0017 a0008c0019	a0001c0001t0001 a0001c0001t0010 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0004t0001 a0002c0007t0009 a0003c0006t0015 a0005c0017t0042 a0008c0019t0003	a0001c0001t0001g0087 a0001c0001t0010g0138 a0001c0004t0001g0134 others(4): Show a0001c0001t0001g0087 a0001c0001t0010g0138 a0001c0004t0001g0134 a0002c0007t0009g0127 a0003c0006t0015g0139 a0005c0017t0042g0059 a0008c0019t0003g0022	7	234	0.0299	-28	c.-77 others(47): Show c.-77+15970_-77+15997delGCCCAGGACATGCCTGCTCGTGGTGC CC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91654960	TCCTGGTA others(21): Show TCCTGGTAATACAGTCTCTTCCTGTAATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01074.hp2 others(74): Show HG00735.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18956.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18982.hp2 NA18990.hp1 NA18997.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0006c0010t0001	a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0036 others(74): Show a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0034 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0246 a0001c0002t0001g0141 a0001c0002t0001g0155 a0001c0002t0001g0177 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0085 a0001c0002t0002g0099 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0186 a0001c0002t0002g0188 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0261 a0002c0003t0001g0139 a0006c0010t0001g0126	77	269	0.2862	-28	c.143 others(47): Show c.1432+4849_1432+4876delTATTACAGGAAGAGACTGTATTACCA GG	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91669325	GGTATAAC others(21): Show GGTATAACTACTCCTTTACCAAGCTTTCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(114): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0004c0008 a0005c0009 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0004c0008t0001 a0005c0009t0002 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(113): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0263 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0065 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0118 a0001c0001t0002g0169 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0002g0207 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0002t0001g0015 a0001c0002t0001g0025 a0001c0002t0001g0143 a0001c0002t0001g0162 a0001c0002t0002g0018 a0001c0002t0002g0069 a0001c0002t0002g0116 a0001c0002t0002g0123 a0001c0002t0002g0131 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0192 a0001c0002t0002g0235 a0001c0002t0002g0240 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0262 a0001c0002t0002g0264 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0003t0001g0062 a0002c0003t0001g0144 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0002g0138 a0002c0003t0002g0140 a0002c0003t0003g0266 a0002c0003t0003g0267 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0004c0008t0001g0048 a0005c0009t0002g0128 a0007c0007t0001g0093	117	270	0.4333	-28	c.128 others(45): Show c.1287+461_1287+488delTGAAAGCTTGGTAAAGGAGTAGTTATAC	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0228 a0005c0006t0001g0228	1	47	0.0213	-28	c.-44 others(39): Show c.-4478_-4451delATATATATATATATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751197	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp2 HG04115.hp1 others(1): Show HG00741.hp1 HG02559.hp2 HG04115.hp1 NA19068.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0170 a0001c0001t0001g0208 a0001c0001t0001g0232 others(1): Show a0001c0001t0001g0170 a0001c0001t0001g0208 a0001c0001t0001g0232 a0005c0006t0001g0209	4	15	0.2667	-28	c.988 others(43): Show c.988-432_988-405delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03831.hp1 NA18975.hp1 others(2): Show HG00621.hp1 HG03831.hp1 NA18975.hp1 NA19081.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0110 a0001c0001t0002g0048 a0001c0001t0002g0108 others(2): Show a0001c0001t0001g0110 a0001c0001t0002g0048 a0001c0001t0002g0108 a0001c0001t0004g0163 a0001c0002t0004g0203	5	14	0.3571	-28	c.103 others(47): Show c.1030-3112_1030-3085delTATATATATATATATATATATATATA TA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244582910	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02523.hp2 others(8): Show HG01109.hp1 HG02145.hp2 HG02523.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03195.hp1 HG03710.hp2 HG04115.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004	a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0003g0072 others(8): Show a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0003g0072 a0001c0001t0004g0167 a0002c0004t0001g0022 a0002c0004t0001g0041 a0002c0004t0002g0009 a0002c0004t0002g0017 a0002c0004t0002g0073 a0002c0004t0002g0074 a0002c0004t0004g0174	11	13	0.8462	-28	c.201 others(45): Show c.2010-914_2010-887delTATATATATATATATATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116523083	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	127	0.0079	-28	c.-19 others(39): Show c.-1979_-1952delGAAGGAAGGAAGGAAGGAAGGAAGGAAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1952		chr7	TogoVar
CAV1_chr7_116520036_116566179	116555514	AAGAAAGA others(21): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02615.hp2 others(2): Show HG02145.hp2 HG02559.hp1 HG02615.hp2 HG02970.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0117 a0001c0001t0002g0177 a0001c0001t0004g0068 others(2): Show a0001c0001t0001g0117 a0001c0001t0002g0177 a0001c0001t0004g0068 a0001c0001t0004g0089 a0001c0001t0010g0232	5	339	0.0147	-28	c.196 others(45): Show c.196-3424_196-3397delGAGAGAGAGAGAGAGAGAGAGAGAAAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar

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