Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BMAL1_chr11_13272790_13392266	13284198	GTATATAT others(35): Show GTATATATATATGTGTATATATATATATATGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	314	0.0032	-42	c.-26 others(61): Show c.-263+6287_-263+6328delGTGTATATATATATATATGTGTGTGT ATATATATATATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMP5_chr6_55748653_55880590	55853172	TAAAATAA others(35): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0122 a0001c0002t0003g0122	1	320	0.0031	-42	c.490 others(61): Show c.490+21162_490+21203delTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	1/6			chr6	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01515.hp1 HG02615.hp2 others(4): Show HG00438.hp1 HG01515.hp1 HG02615.hp2 HG02895.hp2 HG03139.hp2 HG03225.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0168 a0001c0001t0001g0196 a0001c0001t0001g0258 others(4): Show a0001c0001t0001g0168 a0001c0001t0001g0196 a0001c0001t0001g0258 a0001c0001t0001g0318 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0088	7	424	0.0165	-42	c.116 others(59): Show c.1169-427_1169-386delTATATATATATATATATATATATATATA TATATATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BRF1_chr14_105204286_105306001	105267940	AGAGGCCT others(35): Show AGAGGCCTTGCTCCCACGCGTGGCCAGGCACGCCATGGAGGCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG00639.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0070 a0001c0001t0013g0072 a0001c0001t0008g0070 a0001c0001t0013g0072	2	72	0.0278	-42	c.439 others(59): Show c.439+4739_439+4780delAGCCTCCATGGCGTGCCTGGCCACGCGT GGGAGCAAGGCCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	3/17			chr14	TogoVar
BRINP3_chr1_190092658_190482864	190203750	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG03471.hp1 HG02723.hp1 HG02886.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0007g0198 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0007g0198	3	240	0.0125	-42	c.961 others(61): Show c.961+22290_961+22331delATATATATATATATATATATATATAT ATATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	6/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190251862	ACAAATAG others(35): Show ACAAATAGTTTCCTTATTTACCAGAGATCTTATCAAATGTAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02572.hp1 others(1): Show HG02055.hp2 HG02559.hp1 HG02572.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0122 a0001c0001t0003g0004 a0001c0001t0003g0005 others(1): Show a0001c0001t0001g0122 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006	4	240	0.0167	-42	c.618 others(61): Show c.618+12961_618+13002delCCTACATTTGATAAGATCTCTGGTAA ATAAGGAAACTATTTG	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	4/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190301166	CATATATA others(35): Show CATATATATACATATATATATGTATATATATACACATACATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	240	0.0042	-42	c.237 others(61): Show c.237-19458_237-19417delATATGTATGTGTATATATATACATAT ATATATGTATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRWD1_chr21_39180482_39318632	39217055	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0019 a0003c0004t0019	a0003c0004t0019g0076 a0003c0004t0019g0076	1	338	0.0030	-42	c.365 others(61): Show c.3659+1055_3659+1096delAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
C12orf40_chr12_39621183_39726914	39712864	CACGTATA others(35): Show CACGTATATACACGTATATACATATATGCATATACGTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0171 a0007c0012t0001g0171	1	360	0.0028	-42	c.141 others(61): Show c.1412-3880_1412-3839delCGTATATACATATATGCATATACGTG TATATACGTATATACA	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39712975	ATATATAC others(35): Show ATATATACATGTGTATATACGTGTATATGTATATATACATGTG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	360	0.0028	-42	c.141 others(61): Show c.1412-3773_1412-3732delATGTGTATATACGTGTATATGTATAT ATACATGTGTATATAC	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39713393	GACACATA others(35): Show GACACATACGTATGTATACACATATACATATGTATATATGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010	a0001c0001 a0001c0007 a0002c0002 others(7): Show a0001c0001 a0001c0007 a0002c0002 a0003c0005 a0004c0004 a0005c0003 a0006c0006 a0007c0012 a0009c0008 a0010c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0007t0001 a0002c0002t0001 a0003c0005t0001 a0004c0004t0001 a0004c0004t0005 a0005c0003t0001 a0006c0006t0001 a0007c0012t0001 a0009c0008t0001 a0010c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(218): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0339 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0004g0055 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0007t0001g0024 a0002c0002t0001g0007 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0313 a0003c0005t0001g0335 a0003c0005t0001g0336 a0004c0004t0001g0130 a0004c0004t0005g0135 a0005c0003t0001g0034 a0005c0003t0001g0035 a0006c0006t0001g0106 a0006c0006t0001g0333 a0007c0012t0001g0171 a0009c0008t0001g0068 a0010c0010t0001g0096	233	360	0.6472	-42	c.141 others(61): Show c.1412-3359_1412-3318delCATACGTATGTATACACATATACATA TGTATATATGTGTACA	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C1S_chr12_7055718_7076032	7073618	TTTTAAAA others(35): Show TTTTAAAATAATGATTTAACAAAACCCTTTTTCTTTTGACATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0006 a0007c0013t0001g0006	1	370	0.0027	-42	c.29 others(53): Show c.2968_*3009delTTTAAAATAATGATTTAACAAAACCCTTTTTCTT TTGACATA	C1S	ENSG00000182326.17	transcript	ENST00000360817.10	protein_coding		2587		chr12	TogoVar
C1orf43_chr1_154201720_154225590	154203172	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG02273.hp2 NA18952.hp1 HG01256.hp2 HG02273.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0002 a0001c0001t0001g0131 a0001c0001t0001g0132	3	374	0.0080	-42	c.42 others(53): Show c.4239_*4280delATATATATATATATATATATATATATATATATAT ATATATAT	C1orf43	ENSG00000143612.21	transcript	ENST00000368521.10	protein_coding		3547		chr1	TogoVar
C21orf58_chr21_46296130_46328870	46302829	GCCCGTCT others(35): Show GCCCGTCTGCACACGGTGCGGGTCCCCGGGGCGCGCCCTGAGC	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	378	0.0027	-42	c.722 others(57): Show c.722-295_722-254delGCTCAGGGCGCGCCCCGGGGACCCGCACCG TGTGCAGACGGG	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	6/7			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74067576	AATGGTAG others(35): Show AATGGTAGTAGGCAAAAAATCAGTTAATGGAAATCAATAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	318	0.0031	-42	c.495 others(61): Show c.4951+6635_4951+6676delATTTTATTGATTTCCATTAACTGATT TTTTGCCTACTACCAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	24/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74077771	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18960.hp1 HG02559.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0001g0147 a0001c0001t0001g0161	2	318	0.0063	-42	c.460 others(59): Show c.4603+302_4603+343delTATATATATATATATATATATATATATA TATATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74077805	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0233 a0006c0012t0001g0233	1	318	0.0031	-42	c.460 others(59): Show c.4603+268_4603+309delAATATATATATATATATATATATATATA TATATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117075	AATATATA others(35): Show AATATATATATGAATATATATATATGAATATATATATATGAAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01099.hp2 HG02040.hp1 others(7): Show HG00673.hp2 HG01099.hp2 HG02040.hp1 NA18943.hp1 NA18949.hp1 NA18972.hp2 NA18984.hp1 NA18993.hp1 NA19005.hp2 NA19011.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0018c0044 a0001c0001 a0018c0044	a0001c0001t0001 a0018c0044t0001 a0001c0001t0001 a0018c0044t0001	a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0104 others(7): Show a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0018c0044t0001g0089	10	318	0.0315	-42	c.152 others(61): Show c.1520+1111_1520+1152delATTCATATATATATATTCATATATAT ATATTCATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C3_chr19_6672704_6725650	6700488	AATATGAT others(35): Show AATATGATATATTATATATGTAATATATAATATATGTAATATG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp2 HG02970.hp2 others(2): Show HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03041.hp2 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0010 a0001c0012 a0007c0038 a0001c0010 a0001c0012 a0007c0038	a0001c0010t0001 a0001c0012t0001 a0007c0038t0001 a0001c0010t0001 a0001c0012t0001 a0007c0038t0001	a0001c0010t0001g0067 a0001c0010t0001g0068 a0001c0010t0001g0349 others(2): Show a0001c0010t0001g0067 a0001c0010t0001g0068 a0001c0010t0001g0349 a0001c0012t0001g0220 a0007c0038t0001g0053	5	370	0.0135	-42	c.244 others(61): Show c.2440+1597_2440+1638delCATATTACATATATTATATATTACAT ATATAATATATCATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C7orf50_chr7_992006_1143247	1137563	GCCGAGGC others(35): Show GCCGAGGCAGGAGGATCCATCGCTTGAGCCCAAGAATTCGAGA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0201 a0001c0001t0028g0201	1	326	0.0031	-42	c.-29 others(51): Show c.-292_-251delTCTCGAATTCTTGGGCTCAAGCGATGGATCCTCCTG CCTCGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/5	10179		chr7	TogoVar
C8orf82_chr8_144520733_144534111	144527902	GGGCTCCT others(35): Show GGGCTCCTGAGCGCAGGACGCCCACTCCTTGGTGCGCTGGGCC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	398	0.0025	-42	c.205 others(56): Show c.205+80_206-116delGGCCCAGCGCACCAAGGAGTGGGCGTCCTGC GCTCAGGAGCC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding	2/2			chr8	TogoVar
CA10_chr17_51625320_52163714	51831667	AAGCAGCA others(35): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	156	0.0064	-42	c.280 others(61): Show c.280-83891_280-83850delGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG04184.hp1 HG02723.hp2 HG02922.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0001g0018 a0001c0001t0002g0085 a0001c0001t0002g0086	3	156	0.0192	-42	c.279 others(61): Show c.279+52119_279+52160delATATATATATATATATATATATATAT ATATATATATATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CABIN1_chr22_24006304_24183628	24011125	ACACGCAC others(35): Show ACACGCACACGCGCACGCGCGCACACACGCGCACACACGCGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0203 a0001c0009t0001g0203	1	268	0.0037	-42	c.-31 others(51): Show c.-316_-275delCACGCACACGCGCACGCGCGCACACACGCGCACACA CGCGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		178		chr22	TogoVar
CACNA1A_chr19_13201442_13511479	13497507	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0126 a0002c0003t0002g0126	1	218	0.0046	-42	c.293 others(59): Show c.293+8383_293+8424delATATATATATATATATATATATATATAT TTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497509	AAAAAAAA others(35): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	218	0.0046	-42	c.293 others(59): Show c.293+8381_293+8422delATATATATATATATATATATATATATAT ATTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497511	AAAAAAAA others(35): Show AAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0097 a0001c0004t0001g0097	1	218	0.0046	-42	c.293 others(59): Show c.293+8379_293+8420delATATATATATATATATATATATATATAT ATATTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1204918	AGATCAGT others(35): Show AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0042 a0042	a0042c0083 a0042c0083	a0042c0083t0003 a0042c0083t0003	a0042c0083t0003g0038 a0042c0083t0003g0038	1	338	0.0030	-42	c.245 others(59): Show c.2452-158_2452-117delGCCCCGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D1_chr7_81941444_82448777	82291151	TAATTCTA others(35): Show TAATTCTATATCGATATAGAATTATAATTCTATATCGATATAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02572.hp1 others(4): Show HG02109.hp1 HG02257.hp2 HG02572.hp1 HG02818.hp2 HG03471.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0002 a0001c0001t0020 a0001c0003t0001 others(3): Show a0001c0001t0002 a0001c0001t0020 a0001c0003t0001 a0001c0004t0006 a0001c0006t0013 a0001c0007t0003	a0001c0001t0002g0097 a0001c0001t0020g0114 a0001c0003t0001g0011 others(4): Show a0001c0001t0002g0097 a0001c0001t0020g0114 a0001c0003t0001g0011 a0001c0003t0001g0072 a0001c0004t0006g0104 a0001c0006t0013g0069 a0001c0007t0003g0075	7	144	0.0486	-42	c.294 others(61): Show c.294+43942_294+43983delCTATATCGATATAGAATTATAATTCT ATATCGATATAGAATT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54404930	ATACACTG others(35): Show ATACACTGAAAACTATAAAACATTGATGAAACAAATTGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG02080.hp1 others(10): Show HG00099.hp2 HG00673.hp2 HG02080.hp1 HG02109.hp2 HG02895.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18979.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0014 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0014t0001 a0001c0023t0001	a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0045 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0002t0001g0020 a0001c0002t0001g0082 a0001c0002t0002g0091 a0001c0003t0001g0101 a0001c0003t0001g0112 a0001c0005t0001g0052 a0001c0007t0001g0044 a0001c0008t0001g0092 a0001c0014t0001g0071 a0001c0023t0001g0018	13	118	0.1102	-42	c.381 others(61): Show c.381+18187_381+18228delCAAATTGAAGAGTACACTGAAAACTA TAAAACATTGATGAAA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736074	CATATATA others(35): Show CATATATATGTATGTGTATATATATACATATATATGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	118	0.0085	-42	c.116 others(63): Show c.1168-16521_1168-16480delTATATGTATGTGTATATATATACA TATATATGTATATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18442930	ATATATAT others(35): Show ATATATATATATGTGTATATATATATATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0128 a0001c0001t0045g0128	1	200	0.0050	-42	c.333 others(61): Show c.333+40899_333+40940delGTGTATATATATATATGTATATATAT ATGTGTATATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442930	ATATATAT others(35): Show ATATATATATATGTGTATATATATATATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0005 a0001c0001t0055g0005	1	302	0.0033	-42	c.171 others(61): Show c.171+40899_171+40940delGTGTATATATATATATGTATATATAT ATGTGTATATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36610019	TCAGAGAG others(35): Show TCAGAGAGCCTCCCGGAGCACGGTCAGGCAGGAATCAGCACCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0174 a0001c0001t0008g0174	1	214	0.0047	-42	c.212 others(61): Show c.212-22513_212-22472delGGGTGCTGATTCCTGCCTGACCGTGC TCCGGGAGGCTCTCTG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CADM2_chr3_84953989_86079429	85159321	ATGGGAGA others(35): Show ATGGGAGAAGACCCTCAAATCCATCTTCCCCAGGAGTTCTGGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02451.hp1 HG02486.hp1 others(12): Show HG01175.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(6): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0027 a0001c0001t0049 a0001c0002t0011 a0001c0003t0006 a0001c0003t0026 a0001c0003t0042	a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0008g0013 others(12): Show a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0014g0021 a0001c0001t0014g0026 a0001c0001t0027g0022 a0001c0001t0049g0033 a0001c0002t0011g0012 a0001c0003t0006g0025 a0001c0003t0006g0027 a0001c0003t0006g0030 a0001c0003t0006g0034 a0001c0003t0026g0015 a0001c0003t0042g0109	15	146	0.1027	-42	c.61+ others(61): Show c.61+199654_61+199695delTGGGAGAAGACCCTCAAATCCATCTT CCCCAGGAGTTCTGGG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9			chr3	TogoVar
CALN1_chr7_71774491_72417338	71798089	CAGAGAGA others(35): Show CAGAGAGAGAGACAGAGAGAGACAGAGACAGAGACAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0062 a0001c0001t0013g0062	1	142	0.0070	-42	c.659 others(61): Show c.659-10229_659-10188delCTCTCTCTGTCTCTGTCTCTGTCTCT CTCTGTCTCTCTCTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12401033	AAATATAT others(35): Show AAATATATGTATTATATATATTATATATATATTTTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	214	0.0047	-42	c.92+ others(59): Show c.92+51209_92+51250delATATATGTATTATATATATTATATATAT ATTTTATATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691362	TATATATA others(35): Show TATATATATATATATAAATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0042 a0001c0001t0032g0042	1	214	0.0047	-42	c.299 others(61): Show c.299+24568_299+24609delAATATATATATATATATATATATATA AATATATATATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44409080	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	198	0.0051	-42	c.376 others(61): Show c.376+18836_376+18877delATATATATATATATATATATATATAT ATATATATATATATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMTA1_chr1_6780454_7774706	7310668	TTTCCTTT others(35): Show TTTCCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01243.hp2 HG01496.hp1 others(7): Show HG00558.hp1 HG01243.hp2 HG01496.hp1 HG02004.hp2 HG02280.hp1 HG02622.hp1 HG02723.hp1 HG02723.hp2 NA19043.hp1 NA20805.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0002c0004 a0008c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0005t0005 a0001c0005t0009 a0001c0006t0001 a0002c0004t0017 a0008c0011t0016	a0001c0001t0002g0001 a0001c0001t0003g0022 a0001c0001t0003g0047 others(7): Show a0001c0001t0002g0001 a0001c0001t0003g0022 a0001c0001t0003g0047 a0001c0001t0011g0058 a0001c0001t0012g0019 a0001c0005t0005g0044 a0001c0005t0009g0050 a0001c0006t0001g0055 a0002c0004t0017g0042 a0008c0011t0016g0029	10	58	0.1724	-42	c.438 others(61): Show c.438+61045_438+61086delCCTTTCTTTCTCTCTCTCTCTCTCTC TCTCTCTTTCTTTCTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751574	GAAGAAAG others(35): Show GAAGAAAGAAACAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18522.hp2 HG01106.hp2 NA18522.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0007 a0003c0004 a0004c0007	a0003c0004t0001 a0004c0007t0006 a0003c0004t0001 a0004c0007t0006	a0003c0004t0001g0322 a0004c0007t0006g0321 a0003c0004t0001g0322 a0004c0007t0006g0321	2	394	0.0051	-42	c.214 others(59): Show c.214-3752_214-3711delCAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751585	CAAAGAAA others(35): Show CAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02015.hp1 HG02145.hp1 others(3): Show HG01168.hp1 HG02015.hp1 HG02145.hp1 HG02559.hp2 HG03540.hp1 NA18954.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0001 a0001c0005 a0002c0013 others(2): Show a0001c0001 a0001c0005 a0002c0013 a0006c0014 a0013c0037	a0001c0001t0001 a0001c0005t0001 a0002c0013t0002 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0013t0002 a0006c0014t0001 a0013c0037t0001	a0001c0001t0001g0279 a0001c0005t0001g0065 a0001c0005t0001g0066 others(3): Show a0001c0001t0001g0279 a0001c0005t0001g0065 a0001c0005t0001g0066 a0002c0013t0002g0164 a0006c0014t0001g0277 a0013c0037t0001g0278	6	394	0.0152	-42	c.214 others(59): Show c.214-3726_214-3685delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116890525	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp2 NA20129.hp2 HG03225.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0037g0298 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0037g0298	3	354	0.0085	-42	c.103 others(59): Show c.103+2337_103+2378delTATATATATATATATATATATATATATA TATATATATATATA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890529	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01361.hp1 NA18965.hp2 others(1): Show HG00323.hp2 HG01361.hp1 NA18965.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0116 a0001c0001t0002g0132 a0001c0001t0002g0275 others(1): Show a0001c0001t0002g0116 a0001c0001t0002g0132 a0001c0001t0002g0275 a0001c0001t0013g0162	4	354	0.0113	-42	c.103 others(59): Show c.103+2367_104-2396delTATATATATATACACATATATATATATA TATATATATATATA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CARF_chr2_202907275_202993263	202931727	GCAATAAC others(35): Show GCAATAACTGGGTGCTCATTCTAATTTTAATTAATAACGTCAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02717.hp2 others(2): Show HG02145.hp1 HG02451.hp1 HG02717.hp2 HG02895.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0040 a0001c0005t0060 a0001c0005t0091 others(1): Show a0001c0005t0040 a0001c0005t0060 a0001c0005t0091 a0001c0005t0092	a0001c0005t0040g0147 a0001c0005t0040g0325 a0001c0005t0060g0145 others(2): Show a0001c0005t0040g0147 a0001c0005t0040g0325 a0001c0005t0060g0145 a0001c0005t0091g0043 a0001c0005t0092g0146	5	334	0.0150	-42	c.-44 others(59): Show c.-44+7340_-44+7381delAATTAATAACGTCACCAATAACTGGGTG CTCATTCTAATTTT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8850466	GGAGGGAG others(35): Show GGAGGGAGAGGCTAGCCAGGAAGTTGAGCTTGAACCTGATCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	470	0.0021	-42	c.46 others(53): Show c.4656_*4697delGGGATCAGGTTCAAGCTCAACTTCCTGGCTAGCC TCTCCCTC	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		2480		chr16	TogoVar
CASK_chrX_41509934_41928554	41611628	TCTCTCCC others(35): Show TCTCTCCCTCTCCCTCTCTCTCTCCCTCTCCCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp2 HG02897.hp1 HG02145.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039	3	164	0.0183	-42	c.103 others(61): Show c.1034-1645_1034-1604delGGAGAGAGAGAGGGAGAGGGAGAGAG AGAGGGAGAGGGAGAG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	11/26			chrX	TogoVar
CASZ1_chr1_10631604_10801646	10715995	CCCCACAG others(35): Show CCCCACAGCACCCAATCCACACCCCACAGCACCCAATCCACAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02723.hp1 others(1): Show HG02280.hp1 HG02622.hp2 HG02723.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0006c0017	a0001c0001t0001 a0001c0002t0007 a0001c0009t0002 others(1): Show a0001c0001t0001 a0001c0002t0007 a0001c0009t0002 a0006c0017t0042	a0001c0001t0001g0163 a0001c0002t0007g0060 a0001c0009t0002g0049 others(1): Show a0001c0001t0001g0163 a0001c0002t0007g0060 a0001c0009t0002g0049 a0006c0017t0042g0059	4	236	0.0170	-42	c.-76 others(61): Show c.-76-10493_-76-10452delTTGTGGATTGGGTGCTGTGGGGTGTG GATTGGGTGCTGTGGG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244581074	TAAGTAAT others(35): Show TAAGTAATATAGCTAAGCTTTGTCTATTTTTGAACTTCATATG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	206	0.0049	-42	c.195 others(59): Show c.1951-718_1951-677delTAATATAGCTAAGCTTTGTCTATTTTTG AACTTCATATGAAG	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244582910	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0137 a0006c0010t0001g0138 a0006c0010t0001g0137 a0006c0010t0001g0138	2	206	0.0097	-42	c.201 others(59): Show c.2010-928_2010-887delTATATATATATATATATATATATATATA TATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar

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