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
CNN1_chr19_11533851_11555323	11546993	AGGGGGTG others(16): Show AGGGGGTGGTGGGCAGCCTGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	390	0.0026	-23	c.390 others(36): Show c.390+28_390+50delGGTGGTGGGCAGCCTGGGCTGGG	CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNNM1_chr10_99324356_99399330	99384046	GTTAAATG others(16): Show GTTAAATGAAATATGTTATTAAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 NA19043.hp1 HG02258.hp2 HG02572.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0131 a0001c0001t0002g0205 a0001c0001t0017g0201 a0001c0001t0001g0131 a0001c0001t0002g0205 a0001c0001t0017g0201	3	318	0.0094	-23	c.234 others(42): Show c.2341-3769_2341-3747delATGAAATATGTTATTAAAATTAA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT10_chr3_32680188_32778875	32762644	ATAATAAC others(16): Show ATAATAACATAATATACCCAGCAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	352	0.0028	-23	c.171 others(38): Show c.1710-86_1710-64delATAACATAATATACCCAGCATTA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT4_chr7_135356795_135515102	135472503	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	355	0.0028	-23	c.-92 others(42): Show c.-92-34103_-92-34081delATATATATATATTTTTTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472507	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	334	0.0030	-23	c.-92 others(42): Show c.-92-34107_-92-34085delATATATATATATATATTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472509	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03516.hp1 HG01256.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0304 a0002c0002t0001g0047 a0001c0001t0001g0304 a0002c0002t0001g0047	2	330	0.0061	-23	c.-92 others(42): Show c.-92-34109_-92-34087delATATATATATATATATATTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495679	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	359	0.0028	-23	c.-93 others(42): Show c.-93+14187_-93+14209delCTTTCTTTCTTTTTTTTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495683	AAAAAAAA others(16): Show AAAAAAAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18967.hp2 HG02257.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0066 a0002c0002t0001g0073	2	354	0.0056	-23	c.-93 others(42): Show c.-93+14183_-93+14205delCTTTCTTTCTTTCTTTTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495687	AAAAAAAG others(16): Show AAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG02071.hp1 others(8): Show HG00280.hp2 HG00438.hp2 HG02071.hp1 HG03688.hp2 NA18984.hp1 NA18986.hp1 NA19004.hp1 NA19005.hp1 NA19054.hp2 NA19066.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0253 others(8): Show a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0303 a0002c0002t0001g0085	11	307	0.0358	-23	c.-93 others(42): Show c.-93+14179_-93+14201delCTTTCTTTCTTTCTTTCTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT6L_chr4_77708387_77824368	77714438	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(224): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(223): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0002g0031 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0093 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0198 a0001c0001t0003g0322 a0001c0001t0004g0286 a0001c0001t0004g0290 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0220 a0001c0001t0005g0240 a0001c0001t0009g0087 a0001c0001t0009g0088 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0091 a0001c0001t0009g0157 a0001c0001t0010g0077 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0170 a0001c0001t0012g0184 a0001c0001t0012g0185 a0001c0001t0012g0186 a0001c0001t0015g0250 a0001c0001t0015g0281 a0001c0001t0017g0287 a0001c0001t0017g0291 a0001c0001t0018g0289 a0001c0001t0022g0181 a0001c0001t0023g0004 a0001c0001t0029g0251 a0001c0001t0030g0078 a0001c0001t0031g0112 a0001c0001t0034g0164 a0001c0001t0035g0258 a0001c0001t0036g0274 a0001c0001t0037g0182 a0001c0001t0039g0174 a0002c0002t0001g0110	227	249	0.9116	-23	c.59 others(34): Show c.5970_*5992delTTTTTTTTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	12/12	5970		chr4	TogoVar
CNOT6_chr5_180489379_180583358	180494461	TGGCGGCG others(16): Show TGGCGGCGGCGACGGCGGCGCGGA	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0002 a0001c0001t0034g0002	1	332	0.0030	-23	c.-30 others(32): Show c.-300_-278delGCGGCGACGGCGGCGCGGAGGCG	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	1/12	34789	INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01167.hp2 others(12): Show HG00280.hp2 HG00639.hp2 HG01167.hp2 HG01169.hp2 HG02027.hp1 HG02273.hp2 HG02683.hp2 HG03704.hp2 HG04199.hp1 NA18960.hp2 NA18980.hp1 NA19077.hp2 NA19085.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 others(4): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0027	a0001c0001t0005g0114 a0001c0001t0009g0011 a0001c0001t0009g0016 others(12): Show a0001c0001t0005g0114 a0001c0001t0009g0011 a0001c0001t0009g0016 a0001c0001t0009g0207 a0001c0001t0010g0017 a0001c0001t0010g0188 a0001c0001t0010g0195 a0001c0001t0010g0210 a0001c0001t0012g0244 a0001c0001t0014g0168 a0001c0001t0014g0175 a0001c0001t0014g0186 a0001c0001t0019g0255 a0001c0001t0027g0187 a0001c0001t0027g0191	15	25	0.6000	-23	c.112 others(42): Show c.112+10197_112+10219delTTTTTTTTTTTTTTTTTTTTTTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN1_chr12_40687439_41077415	41057163	AAGATATT others(16): Show AAGATATTTATATTATAAATATTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01515.hp2 HG01517.hp1 others(14): Show HG01169.hp1 HG01515.hp2 HG01517.hp1 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG03041.hp2 HG03130.hp1 HG03540.hp2 NA18906.hp1 NA18953.hp1 NA18964.hp2 NA18972.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0002t0003 a0001c0003t0003	a0001c0001t0003g0010 a0001c0001t0003g0021 a0001c0001t0003g0084 others(14): Show a0001c0001t0003g0010 a0001c0001t0003g0021 a0001c0001t0003g0084 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0165 a0001c0001t0003g0200 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0015g0219 a0001c0001t0017g0186 a0001c0001t0026g0190 a0001c0002t0003g0075 a0001c0003t0003g0062 a0001c0003t0003g0064 a0001c0003t0003g0066	17	230	0.0739	-23	c.298 others(44): Show c.2981-12780_2981-12758delAAATATTTAGATATTTATATTAT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN3_chr3_74257568_74619659	74344396	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02622.hp2 HG00408.hp2 HG02622.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0006 a0006c0012t0003 a0001c0001t0006 a0006c0012t0003	a0001c0001t0006g0144 a0006c0012t0003g0047 a0001c0001t0006g0144 a0006c0012t0003g0047	2	53	0.0377	-23	c.136 others(42): Show c.1365-7761_1365-7739delAAAAAAAAAAAAAAAAAAAAAAC	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	11/22			chr3	TogoVar
CNTN3_chr3_74257568_74619659	74344397	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0032 a0003c0003t0007g0032	1	123	0.0081	-23	c.136 others(42): Show c.1365-7762_1365-7740delAAAAAAAAAAAAAAAAAAAAAAA	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	11/22			chr3	TogoVar
CNTN5_chr11_99015949_100363885	99677295	AATGGTGA others(16): Show AATGGTGAATGCCTTTACATGTTC	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0016 a0001c0001t0014g0016	1	66	0.0152	-23	c.55+ others(42): Show c.55+121031_55+121053delTGAATGCCTTTACATGTTCATGG	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1245218	ATATATAT others(16): Show ATATATATATATATATATACACAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02165.hp1 HG02970.hp1 others(7): Show HG00609.hp1 HG02165.hp1 HG02970.hp1 HG03453.hp1 HG03654.hp2 HG03834.hp1 HG04204.hp2 NA18954.hp1 NA18979.hp2 NA19003.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0007c0018	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0007c0018t0001	a0001c0001t0001g0037 a0001c0001t0001g0104 a0001c0001t0001g0106 others(7): Show a0001c0001t0001g0037 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0172 a0001c0003t0001g0168 a0001c0007t0001g0092 a0001c0007t0001g0100 a0007c0018t0001g0087	10	198	0.0505	-23	c.358 others(42): Show c.358+17226_358+17248delTATATATATATATATATACACAC	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245272	TATACACA others(16): Show TATACACACACATATATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG04115.hp1 NA18949.hp1 others(3): Show HG02056.hp1 HG04115.hp1 NA18949.hp1 NA18972.hp2 NA18980.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0003t0001g0113 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0003t0001g0113 a0001c0003t0001g0142 a0001c0003t0001g0166 a0001c0003t0001g0175	6	229	0.0262	-23	c.358 others(42): Show c.358+17283_358+17305delCACACACATATATATATAACATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146483283	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp2 NA18522.hp1 others(2): Show HG02922.hp1 HG03098.hp2 NA18522.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0013t0003	a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0001t0018g0001 others(2): Show a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0002t0001g0021 a0001c0013t0003g0039	5	34	0.1471	-23	c.98- others(42): Show c.98-290987_98-290965delTATATATATATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146525565	TATCTATC others(16): Show TATCTATCTATCTCTCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	40	0.0250	-23	c.98- others(42): Show c.98-248694_98-248672delTCTCTATCTATCATCTATCTATC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147062127	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0033 a0001c0006t0014g0033	1	11	0.0909	-23	c.550 others(42): Show c.550+18094_550+18116delAAAAAAAAAAAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148123710	GAGAAAGA others(16): Show GAGAAAGAAAGAAAAGAAAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG03139.hp1 HG02451.hp2 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0015 a0001c0001 a0001c0008 a0001c0015	a0001c0001t0002 a0001c0008t0001 a0001c0015t0001 a0001c0001t0002 a0001c0008t0001 a0001c0015t0001	a0001c0001t0002g0006 a0001c0008t0001g0025 a0001c0015t0001g0011 a0001c0001t0002g0006 a0001c0008t0001g0025 a0001c0015t0001g0011	3	40	0.0750	-23	c.255 others(42): Show c.2554+5442_2554+5464delAGGAAGAAAGAAAGAAAAGAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76373121	TATAAATA others(16): Show TATAAATAGGTGAATATATTCCAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02895.hp1 others(6): Show HG02486.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03486.hp1 HG03516.hp1 NA19062.hp2 NA19088.hp2 NA19091.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0002 a0006c0009 others(1): Show a0001c0001 a0002c0002 a0006c0009 a0007c0013	a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0002c0002t0002 a0002c0002t0023 a0006c0009t0003 a0007c0013t0004	a0001c0001t0003g0254 a0001c0001t0005g0046 a0001c0001t0005g0202 others(6): Show a0001c0001t0003g0254 a0001c0001t0005g0046 a0001c0001t0005g0202 a0001c0001t0015g0099 a0001c0001t0015g0272 a0002c0002t0002g0212 a0002c0002t0023g0265 a0006c0009t0003g0031 a0007c0013t0004g0035	9	265	0.0340	-23	c.390 others(42): Show c.390+17729_390+17751delAATAGGTGAATATATTCCACATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76373240	AATAGGTG others(16): Show AATAGGTGAATATATTCCACATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(106): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01358.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp1 NA18981.hp2 NA18987.hp1 NA18991.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0014 a0018 a0019 a0023 a0024 a0025	a0001c0001 a0001c0004 a0001c0015 others(24): Show a0001c0001 a0001c0004 a0001c0015 a0002c0002 a0002c0005 a0002c0011 a0002c0012 a0002c0026 a0002c0042 a0003c0003 a0003c0006 a0003c0023 a0004c0007 a0004c0010 a0005c0008 a0006c0009 a0007c0013 a0008c0017 a0009c0044 a0012c0022 a0013c0033 a0014c0036 a0018c0029 a0019c0041 a0023c0020 a0024c0024 a0025c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0015t0004 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0005t0002 a0002c0005t0004 a0002c0011t0002 a0002c0012t0008 a0002c0026t0004 a0002c0042t0008 a0003c0003t0005 a0003c0003t0007 a0003c0006t0001 a0003c0006t0003 a0003c0006t0006 a0003c0023t0007 a0004c0007t0002 a0004c0007t0008 a0004c0007t0014 a0004c0007t0026 a0004c0010t0002 a0004c0010t0029 a0005c0008t0003 a0006c0009t0001 a0007c0013t0002 a0007c0013t0022 a0008c0017t0002 a0009c0044t0006 a0012c0022t0001 a0013c0033t0002 a0014c0036t0004 a0018c0029t0005 a0019c0041t0004 a0023c0020t0009 a0024c0024t0001 a0025c0032t0001	a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0069 others(106): Show a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0195 a0001c0001t0001g0232 a0001c0001t0002g0177 a0001c0001t0003g0064 a0001c0001t0003g0118 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0169 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0003g0236 a0001c0001t0004g0051 a0001c0001t0004g0172 a0001c0001t0005g0163 a0001c0001t0007g0003 a0001c0001t0009g0189 a0001c0001t0010g0240 a0001c0001t0010g0250 a0001c0001t0012g0117 a0001c0001t0012g0179 a0001c0001t0020g0181 a0001c0004t0001g0006 a0001c0004t0001g0030 a0001c0004t0001g0074 a0001c0004t0001g0082 a0001c0004t0001g0107 a0001c0004t0001g0122 a0001c0004t0001g0137 a0001c0004t0001g0165 a0001c0004t0001g0170 a0001c0004t0001g0176 a0001c0004t0001g0222 a0001c0004t0003g0084 a0001c0004t0003g0094 a0001c0004t0003g0213 a0001c0004t0006g0225 a0001c0015t0004g0089 a0002c0002t0002g0011 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0167 a0002c0002t0002g0182 a0002c0002t0002g0201 a0002c0002t0004g0014 a0002c0002t0004g0109 a0002c0002t0004g0129 a0002c0002t0004g0150 a0002c0002t0004g0153 a0002c0002t0004g0226 a0002c0002t0005g0178 a0002c0002t0025g0203 a0002c0005t0002g0010 a0002c0005t0002g0080 a0002c0005t0002g0194 a0002c0005t0002g0257 a0002c0005t0004g0072 a0002c0005t0004g0104 a0002c0005t0004g0215 a0002c0011t0002g0216 a0002c0012t0008g0090 a0002c0012t0008g0242 a0002c0026t0004g0007 a0002c0042t0008g0036 a0003c0003t0005g0047 a0003c0003t0005g0266 a0003c0003t0007g0259 a0003c0006t0001g0005 a0003c0006t0001g0044 a0003c0006t0001g0067 a0003c0006t0001g0112 a0003c0006t0001g0192 a0003c0006t0003g0134 a0003c0006t0006g0063 a0003c0023t0007g0130 a0004c0007t0002g0199 a0004c0007t0002g0208 a0004c0007t0008g0238 a0004c0007t0014g0142 a0004c0007t0026g0073 a0004c0010t0002g0085 a0004c0010t0002g0086 a0004c0010t0002g0143 a0004c0010t0029g0241 a0005c0008t0003g0152 a0006c0009t0001g0258 a0007c0013t0002g0210 a0007c0013t0022g0249 a0008c0017t0002g0068 a0009c0044t0006g0247 a0012c0022t0001g0255 a0013c0033t0002g0050 a0014c0036t0004g0248 a0018c0029t0005g0077 a0019c0041t0004g0193 a0023c0020t0009g0103 a0024c0024t0001g0096 a0025c0032t0001g0013	109	272	0.4007	-23	c.390 others(42): Show c.390+17733_390+17755delGGTGAATATATTCCACATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76373244	GGTGAATA others(16): Show GGTGAATATATTCCACATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0049 a0002c0002t0024g0049	1	271	0.0037	-23	c.390 others(42): Show c.390+17739_390+17761delTATATTCCACATATATATGTGAA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124159458	GGTGGCAG others(16): Show GGTGGCAGGCCAGATTTGGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA21309.hp2 HG02897.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0024 a0001c0002t0001g0053 a0001c0001t0002g0024 a0001c0002t0001g0053	2	62	0.0323	-23	c.83- others(40): Show c.83-62245_83-62223delTGGCAGGCCAGATTTGGCCTGTG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124565574	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01261.hp2 others(20): Show HG01069.hp2 HG01070.hp2 HG01261.hp2 HG02145.hp2 HG02451.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0008 others(2): Show a0001c0001 a0001c0002 a0002c0008 a0003c0005 a0005c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(16): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0019 a0002c0008t0001 a0003c0005t0001 a0005c0003t0008	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0007g0025 others(20): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0007g0025 a0001c0001t0009g0061 a0001c0001t0013g0042 a0001c0001t0014g0038 a0001c0001t0015g0037 a0001c0001t0018g0021 a0001c0002t0001g0007 a0001c0002t0001g0046 a0001c0002t0001g0063 a0001c0002t0002g0060 a0001c0002t0003g0056 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0005g0045 a0001c0002t0006g0009 a0001c0002t0010g0032 a0001c0002t0012g0018 a0001c0002t0019g0051 a0002c0008t0001g0039 a0003c0005t0001g0008 a0005c0003t0008g0036	23	24	0.9583	-23	c.175 others(42): Show c.1756+2272_1756+2294delTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124702346	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 HG02922.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0023 a0001c0001t0013g0042 a0001c0001t0002g0023 a0001c0001t0013g0042	2	4	0.5000	-23	c.207 others(44): Show c.2078-44855_2078-44833delTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124746944	ATGGGCAC others(16): Show ATGGGCACATATAGATGTAGAAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	62	0.0161	-23	c.207 others(40): Show c.2078-284_2078-262delTGGGCACATATAGATGTAGAAAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23			chr2	TogoVar
COA1_chr7_43634257_43734523	43691270	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01123.hp1 others(10): Show HG00438.hp2 HG00544.hp1 HG01123.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG02004.hp2 HG03239.hp2 HG03688.hp1 HG04204.hp1 HG04228.hp1 NA18940.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0062 a0001c0001t0001g0076 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0238	13	261	0.0498	-23	c.-39 others(42): Show c.-39+38136_-39+38158delCTTTCTTTCTTTCTTTCTTTCTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691407	GGAAGGAA others(16): Show GGAAGGAAGAAAGAAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18981.hp2 NA18987.hp1 others(2): Show NA18956.hp2 NA18981.hp2 NA18987.hp1 NA19010.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0185 others(2): Show a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0191	5	353	0.0142	-23	c.-39 others(42): Show c.-39+37999_-39+38021delTCTTTCTTTTTCTTTCTTCCTTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691411	GGAAGAAA others(16): Show GGAAGAAAGAAAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	371	0.0027	-23	c.-39 others(42): Show c.-39+37995_-39+38017delTCTTTCTTTCTTTTTCTTTCTTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COCH_chr14_30869559_30895618	30893127	ATTACAAA others(16): Show ATTACAAACGGCAAAAACCACAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02572.hp2 HG03098.hp1 others(3): Show HG01981.hp1 HG02572.hp2 HG03098.hp1 HG03209.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0189 a0001c0001t0002g0086 a0001c0001t0002g0251 others(3): Show a0001c0001t0001g0189 a0001c0001t0002g0086 a0001c0001t0002g0251 a0001c0001t0004g0094 a0001c0001t0004g0109 a0001c0001t0004g0157	6	445	0.0135	-23	c.33 others(34): Show c.3337_*3359delTTACAAACGGCAAAAACCACAAT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding		2510		chr14	TogoVar
COG2_chr1_230637481_230698982	230677587	GGCTTTAA others(16): Show GGCTTTAAGCAGAAGCAATTGTAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00621.hp2 others(32): Show HG00558.hp1 HG00597.hp1 HG00621.hp2 HG01081.hp2 HG01123.hp1 HG01928.hp1 HG01934.hp2 HG02004.hp2 HG02083.hp1 HG02148.hp2 HG02165.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp2 NA18941.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18967.hp1 NA18968.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp2 NA18985.hp1 NA18991.hp1 NA18992.hp1 NA19002.hp2 NA19068.hp1 NA19077.hp2 NA19085.hp2 NA19087.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0007t0001	a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0218 others(21): Show a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0045 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0005g0229 a0001c0001t0005g0281 a0001c0001t0010g0221 a0001c0007t0001g0046	35	404	0.0866	-23	c.102 others(42): Show c.1027-1315_1027-1293delGAAGCAATTGTAAGCTTTAAGCA	COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
COG4_chr16_70475571_70528554	70506595	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01257.hp2 others(4): Show HG00639.hp1 HG01123.hp2 HG01257.hp2 HG01516.hp1 HG01934.hp1 HG02683.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(4): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197	7	352	0.0199	-23	c.106 others(42): Show c.1061+1788_1061+1810delGTTTTTTTTTTTTTTTTTTTTTT	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	8/18			chr16	TogoVar
COG7_chr16_23383493_23458189	23408132	GGGCGGGA others(16): Show GGGCGGGAGGCAGGGGGCGAGTGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18954.hp1 NA18973.hp1 HG01081.hp1 NA18954.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0202 a0001c0001t0001g0228 a0001c0001t0001g0231	3	265	0.0113	-23	c.147 others(42): Show c.1476-1893_1476-1871delACACTCGCCCCCTGCCTCCCGCC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COL17A1_chr10_104026286_104090880	104059571	CGAAGACA others(16): Show CGAAGACAATGAAATGAAATGTGG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0254 a0006c0008t0002g0254	1	334	0.0030	-23	c.122 others(38): Show c.1222+44_1222+66delCCACATTTCATTTCATTGTCTTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	15/55			chr10	TogoVar
COL18A1_chr21_45400165_45518720	45466455	TTGAGCTC others(16): Show TTGAGCTCTCGCACCCGGGAAGGC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0033 a0001c0035t0001g0145 a0001c0035t0001g0033 a0001c0035t0001g0145	2	290	0.0069	-23	c.107 others(40): Show c.107-1753_107-1731delCACCCGGGAAGGCTGAGCTCTCG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490637	TGGGCCTC others(16): Show TGGGCCTCCGTGTGCCCACTCCCG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG02809.hp1 HG02886.hp1	a0022 a0023 a0022 a0023	a0022c0046 a0023c0047 a0022c0046 a0023c0047	a0022c0046t0004 a0023c0047t0004 a0022c0046t0004 a0023c0047t0004	a0022c0046t0004g0164 a0023c0047t0004g0163 a0022c0046t0004g0164 a0023c0047t0004g0163	2	290	0.0069	-23	c.203 others(40): Show c.2032-197_2032-175delGGCCTCCGTGTGCCCACTCCCGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	20/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921388	TATATATC others(16): Show TATATATCATATATCATATATATC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02723.hp1 others(3): Show HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02976.hp2 HG03139.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0006 others(1): Show a0002c0003 a0002c0004 a0002c0006 a0002c0020	a0002c0003t0012 a0002c0004t0001 a0002c0004t0006 others(2): Show a0002c0003t0012 a0002c0004t0001 a0002c0004t0006 a0002c0006t0003 a0002c0020t0006	a0002c0003t0012g0010 a0002c0004t0001g0008 a0002c0004t0006g0007 others(3): Show a0002c0003t0012g0010 a0002c0004t0001g0008 a0002c0004t0006g0007 a0002c0004t0006g0009 a0002c0006t0003g0131 a0002c0020t0006g0006	6	147	0.0408	-23	c.267 others(40): Show c.267-6507_267-6485delCATATATATCATATATCATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63305603	CGGGTCCC others(16): Show CGGGTCCCACCCTCCTCTGGGCTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0103 a0002c0008t0003g0103	1	288	0.0035	-23	c.337 others(36): Show c.337+60_337+82delTGGGCTGGGGTCCCACCCTCCTC	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL21A1_chr6_56051590_56252580	56158246	GTTTTTTC others(16): Show GTTTTTTCTTTTTTTTTTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03540.hp2 HG02451.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0107 a0001c0002t0001g0105 a0001c0001t0001g0107 a0001c0002t0001g0105	2	261	0.0077	-23	c.137 others(42): Show c.1372-1320_1372-1298delAAAGAAAAAAAAAAAAGAAAAAA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	9/29			chr6	TogoVar
COL24A1_chr1_85724233_86161772	85813532	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp2 HG01934.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0038 a0001c0001t0001g0043	2	27	0.0741	-23	c.395 others(42): Show c.3951+3233_3951+3255delAAAAAAAAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	109084017	AATAATCC others(16): Show AATAATCCACTACACAAGACTCAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	130	0.0077	-23	c.368 others(42): Show c.368-33861_368-33839delATGAGTCTTGTGTAGTGGATTAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101366495	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(43): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01081.hp2 HG01167.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG02055.hp1 HG02071.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03492.hp2 NA18522.hp2 NA18939.hp1 NA18947.hp1 NA18955.hp2 NA18963.hp2 NA18970.hp1 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19080.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0008 others(4): Show a0001c0001 a0001c0005 a0001c0008 a0001c0014 a0002c0003 a0002c0004 a0003c0020	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 a0001c0005t0012 a0001c0008t0007 a0001c0014t0009 a0002c0003t0001 a0002c0003t0026 a0002c0004t0001 a0002c0004t0024 a0003c0020t0008	a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0076 others(43): Show a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0005g0080 a0001c0001t0005g0098 a0001c0001t0009g0167 a0001c0001t0009g0168 a0001c0001t0015g0100 a0001c0005t0002g0170 a0001c0005t0005g0105 a0001c0005t0008g0088 a0001c0005t0012g0084 a0001c0005t0012g0097 a0001c0008t0007g0071 a0001c0008t0007g0077 a0001c0008t0007g0078 a0001c0008t0007g0079 a0001c0014t0009g0089 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0090 a0002c0003t0001g0094 a0002c0003t0001g0096 a0002c0003t0026g0106 a0002c0004t0001g0072 a0002c0004t0001g0101 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0165 a0002c0004t0001g0171 a0002c0004t0001g0172 a0002c0004t0024g0099 a0003c0020t0008g0068	46	172	0.2674	-23	c.158 others(40): Show c.158+3306_158+3328delTTTTTTTTTTTTTTTTTTTTTTA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101475268	TGTCCCTG others(16): Show TGTCCCTGTGTCCTCAGAGACAAG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG02055.hp2 others(16): Show HG00558.hp1 HG00673.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02698.hp2 HG02818.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0002c0007 a0003c0010 a0003c0017 a0006c0019	a0001c0001t0002 a0001c0001t0008 a0001c0002t0006 others(9): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0006 a0001c0005t0008 a0001c0005t0023 a0002c0003t0001 a0002c0003t0026 a0002c0004t0001 a0002c0007t0004 a0003c0010t0005 a0003c0017t0006 a0006c0019t0028	a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0008g0126 others(16): Show a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0008g0126 a0001c0002t0006g0003 a0001c0005t0008g0088 a0001c0005t0023g0111 a0002c0003t0001g0060 a0002c0003t0001g0066 a0002c0003t0026g0106 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0125 a0002c0004t0001g0140 a0002c0004t0001g0163 a0002c0007t0004g0053 a0003c0010t0005g0123 a0003c0017t0006g0005 a0006c0019t0028g0141	19	172	0.1105	-23	c.385 others(42): Show c.385+27483_385+27505delTCCCTGTGTCCTCAGAGACAAGG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL3A1_chr2_188969373_189017746	189007151	TATAGATA others(16): Show TATAGATAGATGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0118 a0001c0001t0009g0118	1	372	0.0027	-23	c.325 others(40): Show c.3255+172_3255+194delGATAGATAGATAGATAGATAGAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110252445	GTATATGT others(16): Show GTATATGTATTATATACATATAAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02015.hp2 HG02451.hp1 others(13): Show HG01891.hp2 HG02015.hp2 HG02451.hp1 HG02486.hp2 HG02717.hp1 HG02886.hp1 HG02976.hp1 HG03225.hp2 NA18747.hp2 NA18906.hp2 NA18953.hp1 NA18957.hp2 NA18981.hp2 NA18992.hp1 NA19074.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0001c0016 others(11): Show a0001c0001 a0001c0003 a0001c0016 a0001c0076 a0002c0002 a0002c0004 a0002c0024 a0002c0030 a0002c0031 a0003c0012 a0003c0098 a0004c0017 a0004c0068 a0006c0042	a0001c0001t0001 a0001c0003t0001 a0001c0016t0003 others(11): Show a0001c0001t0001 a0001c0003t0001 a0001c0016t0003 a0001c0076t0003 a0002c0002t0002 a0002c0004t0007 a0002c0024t0002 a0002c0030t0003 a0002c0031t0001 a0003c0012t0002 a0003c0098t0003 a0004c0017t0005 a0004c0068t0001 a0006c0042t0002	a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0082 others(13): Show a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0003t0001g0095 a0001c0016t0003g0008 a0001c0076t0003g0080 a0002c0002t0002g0273 a0002c0004t0007g0172 a0002c0024t0002g0275 a0002c0030t0003g0186 a0002c0031t0001g0192 a0003c0012t0002g0277 a0003c0098t0003g0204 a0004c0017t0005g0075 a0004c0068t0001g0134 a0006c0042t0002g0276	16	331	0.0483	-23	c.85- others(38): Show c.85-9734_85-9712delATTATATGTATATAATACATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A4_chr2_226997714_227169205	227102885	ACAATATT others(16): Show ACAATATTTCAGCAATAGGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(165): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp2	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0018 a0019 a0021 a0022 a0024 a0026 a0028 a0029 a0032 a0036 a0037 a0038 a0039 a0041 a0042 a0043 a0044	a0001c0001 a0001c0070 a0001c0072 others(43): Show a0001c0001 a0001c0070 a0001c0072 a0002c0002 a0002c0058 a0002c0059 a0002c0060 a0003c0003 a0003c0014 a0003c0026 a0003c0027 a0003c0073 a0004c0004 a0004c0051 a0005c0007 a0005c0045 a0005c0071 a0006c0005 a0006c0035 a0007c0006 a0008c0008 a0009c0009 a0010c0018 a0011c0011 a0013c0020 a0013c0052 a0014c0024 a0015c0013 a0016c0023 a0018c0064 a0019c0016 a0021c0025 a0022c0022 a0024c0061 a0026c0056 a0028c0037 a0029c0074 a0032c0067 a0036c0036 a0037c0034 a0038c0057 a0039c0039 a0041c0062 a0042c0050 a0043c0066 a0044c0063	a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 others(61): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0070t0039 a0001c0072t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0026 a0002c0002t0027 a0002c0058t0005 a0002c0059t0025 a0002c0060t0002 a0003c0003t0003 a0003c0003t0031 a0003c0014t0002 a0003c0026t0001 a0003c0027t0003 a0003c0073t0003 a0004c0004t0002 a0004c0004t0005 a0004c0004t0037 a0004c0051t0005 a0005c0007t0002 a0005c0007t0005 a0005c0045t0003 a0005c0071t0005 a0006c0005t0004 a0006c0035t0036 a0007c0006t0004 a0007c0006t0035 a0008c0008t0004 a0008c0008t0009 a0009c0009t0001 a0010c0018t0004 a0011c0011t0003 a0013c0020t0001 a0013c0052t0003 a0014c0024t0002 a0014c0024t0012 a0015c0013t0006 a0016c0023t0002 a0018c0064t0005 a0019c0016t0014 a0021c0025t0002 a0022c0022t0003 a0024c0061t0002 a0026c0056t0001 a0028c0037t0016 a0029c0074t0018 a0032c0067t0028 a0036c0036t0038 a0037c0034t0004 a0038c0057t0002 a0039c0039t0007 a0041c0062t0003 a0042c0050t0001 a0043c0066t0012 a0044c0063t0003	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0031 others(164): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0017g0002 a0001c0001t0019g0127 a0001c0001t0022g0120 a0001c0001t0023g0132 a0001c0001t0024g0133 a0001c0070t0039g0208 a0001c0072t0001g0242 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0036 a0002c0002t0002g0052 a0002c0002t0002g0067 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0090 a0002c0002t0002g0093 a0002c0002t0002g0099 a0002c0002t0002g0113 a0002c0002t0002g0178 a0002c0002t0002g0190 a0002c0002t0002g0205 a0002c0002t0002g0209 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0270 a0002c0002t0004g0150 a0002c0002t0005g0143 a0002c0002t0005g0219 a0002c0002t0007g0050 a0002c0002t0007g0186 a0002c0002t0007g0229 a0002c0002t0011g0226 a0002c0002t0026g0236 a0002c0002t0027g0203 a0002c0058t0005g0218 a0002c0059t0025g0037 a0002c0060t0002g0256 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0085 a0003c0003t0003g0096 a0003c0003t0003g0100 a0003c0003t0003g0118 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0192 a0003c0003t0003g0227 a0003c0003t0003g0245 a0003c0003t0003g0273 a0003c0003t0031g0254 a0003c0014t0002g0094 a0003c0014t0002g0246 a0003c0026t0001g0010 a0003c0026t0001g0234 a0003c0027t0003g0134 a0003c0073t0003g0018 a0004c0004t0002g0042 a0004c0004t0002g0148 a0004c0004t0002g0264 a0004c0004t0005g0030 a0004c0004t0005g0238 a0004c0004t0037g0063 a0004c0051t0005g0023 a0005c0007t0002g0244 a0005c0007t0005g0068 a0005c0007t0005g0122 a0005c0007t0005g0135 a0005c0045t0003g0062 a0005c0071t0005g0241 a0006c0005t0004g0149 a0006c0005t0004g0193 a0006c0005t0004g0195 a0006c0005t0004g0197 a0006c0035t0036g0274 a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0004g0174 a0007c0006t0035g0164 a0008c0008t0004g0027 a0008c0008t0004g0162 a0008c0008t0004g0165 a0008c0008t0009g0275 a0009c0009t0001g0016 a0009c0009t0001g0017 a0009c0009t0001g0056 a0010c0018t0004g0158 a0010c0018t0004g0163 a0011c0011t0003g0223 a0011c0011t0003g0235 a0011c0011t0003g0237 a0013c0020t0001g0007 a0013c0052t0003g0089 a0014c0024t0002g0121 a0014c0024t0012g0225 a0015c0013t0006g0216 a0016c0023t0002g0128 a0018c0064t0005g0179 a0019c0016t0014g0282 a0021c0025t0002g0200 a0021c0025t0002g0265 a0022c0022t0003g0258 a0022c0022t0003g0259 a0024c0061t0002g0021 a0026c0056t0001g0065 a0028c0037t0016g0003 a0029c0074t0018g0045 a0032c0067t0028g0239 a0036c0036t0038g0154 a0037c0034t0004g0278 a0038c0057t0002g0224 a0039c0039t0007g0012 a0041c0062t0003g0269 a0042c0050t0001g0082 a0043c0066t0012g0060 a0044c0063t0003g0083	168	282	0.5957	-23	c.871 others(36): Show c.871-60_871-38delCTTTCCCTATTGCTGAAATATTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	14/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108526656	CTTTCTTC others(16): Show CTTTCTTCTTTCTTTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp2 HG03041.hp1 HG02109.hp1 HG02818.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0170 a0002c0002t0001g0033 a0002c0002t0001g0060 a0001c0001t0001g0170 a0002c0002t0001g0033 a0002c0002t0001g0060	3	259	0.0116	-23	c.82- others(40): Show c.82-13088_82-13066delTTCTTCTTTCTTTCTCTTTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar

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