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
NFE2L3_chr7_26147198_26192137	26176888	CGGCCGGG others(109): Show CGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAG AGATGCTCCTCACTTCCTAGACGGGGTGGCAGCCGGGCAGAGGCGCTCCT CACATCCCAGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(68): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01192.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01981.hp2 HG02056.hp1 HG02071.hp1 HG02148.hp1 HG02155.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG03017.hp2 HG03139.hp1 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA18949.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18989.hp2 NA19000.hp2 NA19011.hp2 NA19062.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0008 a0013 others(1): Show a0001 a0008 a0013 a0015	a0001c0001 a0008c0011 a0013c0017 others(1): Show a0001c0001 a0008c0011 a0013c0017 a0015c0013	a0001c0001t0001 a0001c0001t0020 a0001c0001t0021 others(5): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0008c0011t0001 a0013c0017t0001 a0015c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0224 a0001c0001t0020g0006 a0001c0001t0021g0006 a0001c0001t0022g0006 a0001c0001t0025g0006 a0008c0011t0001g0098 a0008c0011t0001g0099 a0013c0017t0001g0073 a0015c0013t0001g0094	71	278	0.2554	-116	c.571 others(15): Show c.571-918_571-803del	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NFILZ_chr19_8625633_8686151	8663415	GTGGGGAA others(109): Show GTGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCAT GAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGA ACTGCCATGAACTGAGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0136 a0001c0001t0020 a0001c0001t0136	a0001c0001t0020g0013 a0001c0001t0136g0014 a0001c0001t0020g0013 a0001c0001t0136g0014	2	274	0.0073	-116	c.-16 others(21): Show c.-163-11117_-163-11002del	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55947316	ATTTTTTA others(109): Show ATTTTTTAAGAATACAGCATCTGTTATTGCTTGACTTTTTAATAATCACC ATTCTGACTGGTGTGAGATGACATCTCGTTGTGGTTTTGATTTGCATCTC TCTAATACATGATCCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG02886.hp1 HG02572.hp2 HG02818.hp2 HG02886.hp1	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0019 a0017c0023t0019	a0017c0023t0019g0025 a0017c0023t0019g0237 a0017c0023t0019g0025 a0017c0023t0019g0237	3	348	0.0086	-116	c.-58 others(9): Show c.-586_-471del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		515		chr19	TogoVar
NT5M_chr17_17298373_17352663	17307473	CTCACGCC others(109): Show CTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATTGCC TGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCTGCCT CAGCCAGGTACGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(231): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18992.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(215): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0303 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0006g0241 a0001c0001t0006g0249 a0001c0001t0007g0131 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0188 a0001c0002t0001g0206 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0217 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0233 a0001c0002t0001g0294 a0001c0002t0002g0312 a0002c0003t0001g0019 a0004c0004t0001g0276	234	346	0.6763	-116	c.368 others(15): Show c.368+883_368+998del	NT5M	ENSG00000205309.14	transcript	ENST00000389022.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
NXNL1_chr19_17450425_17465926	17463806	GGAGAAGG others(109): Show GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGAAGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 NA20129.hp2 HG03471.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0010 a0003c0003 a0001c0010 a0003c0003	a0001c0010t0001 a0003c0003t0003 a0001c0010t0001 a0003c0003t0003	a0001c0010t0001g0048 a0003c0003t0003g0008 a0001c0010t0001g0048 a0003c0003t0003g0008	2	404	0.0050	-116	c.-30 others(11): Show c.-3053_-2938del	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2881		chr19	TogoVar
NXN_chr17_794310_984776	893825	CTGGAAGC others(109): Show CTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGCATC TCAACCCCCGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGG AAGCAACTCAACTCCCT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	240	0.0042	-116	c.361 others(19): Show c.361-67863_361-67748del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR2M3_chr1_248192265_248217925	248213419	ATATATGT others(109): Show ATATATGTATATATATATATGTATATATATATATGTATATATATATATGT ATATATATATATGTATATATATATATGTATATATATATTTATATATATAT ATGTATATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0088 a0006c0008t0088	a0006c0008t0088g0025 a0006c0008t0088g0025	1	290	0.0034	-116	c.94 others(11): Show c.9414_*9529del	OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding		495		chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31511392	TATATATG others(109): Show TATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACACATATATGTATATCTATATGTAACACACACATATATGTATAT CTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0201 a0001c0002t0021g0201	1	201	0.0050	-116	c.894 others(17): Show c.894-7690_894-7575del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PACRG_chr6_162722974_163320500	163269853	GAAAGAGA others(109): Show GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp1 HG02559.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0122 a0001c0001t0002g0002 a0001c0001t0001g0122 a0001c0001t0002g0002	2	113	0.0177	-116	c.614 others(19): Show c.614-44972_614-44857del	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PALLD_chr4_168492052_168933441	168693103	CGCGCCCT others(109): Show CGCGCCCTGCATCTTCATCACTTACCCTACATACACTCCTTCTGTTTCAC ATCTACCCTGCGCCCTGCGTCTTCATCACTTATCCTACATACACTCCTTC TGTTTCAGATCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp1 HG01175.hp2 others(24): Show HG00597.hp2 HG01109.hp1 HG01175.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp1 HG02896.hp2 HG03139.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG06807.hp2 NA18906.hp1 NA18966.hp2 NA18972.hp1 NA18989.hp1 NA19001.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19068.hp2 NA19077.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0019 a0002c0003 a0002c0007 a0002c0010 a0002c0018 a0004c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0002t0010 a0001c0004t0002 a0001c0004t0005 a0001c0004t0011 a0001c0004t0015 a0001c0004t0017 a0001c0019t0006 a0002c0003t0009 a0002c0007t0001 a0002c0010t0001 a0002c0010t0004 a0002c0010t0006 a0002c0018t0007 a0004c0024t0003	a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0001g0062 others(24): Show a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0003g0066 a0001c0001t0008g0007 a0001c0001t0008g0054 a0001c0001t0012g0064 a0001c0002t0010g0094 a0001c0004t0002g0108 a0001c0004t0002g0118 a0001c0004t0002g0119 a0001c0004t0002g0152 a0001c0004t0005g0148 a0001c0004t0011g0126 a0001c0004t0015g0006 a0001c0004t0017g0048 a0001c0019t0006g0150 a0002c0003t0009g0095 a0002c0007t0001g0025 a0002c0010t0001g0082 a0002c0010t0004g0026 a0002c0010t0006g0100 a0002c0018t0007g0012 a0004c0024t0003g0014	27	154	0.1753	-116	c.150 others(19): Show c.1501+1878_1501+1993del	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAQR5_chr15_69293912_69412780	69300832	TTTAGTTC others(109): Show TTTAGTTCGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTC TCTCTCTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	282	0.0035	-116	c.-27 others(19): Show c.-277+1779_-277+1894del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300840	GTTTTCTT others(109): Show GTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTC TTTCTTTCCTTCTTTCT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG04204.hp2 HG02895.hp1 HG02897.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0040	3	275	0.0109	-116	c.-27 others(19): Show c.-277+1787_-277+1902del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARP8_chr5_50661637_50851519	50774927	GGCTGGGC others(109): Show GGCTGGGCAGAGGCGCTCCCCACTTCCCAGACGGGGCGGCCGGCCAGAGG CGCTCTTCACATCCCAGATGATGGGCGGCCAGGCAGAGACGCTCCTCACT TCCTAGATGGGGTGGCA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	326	0.0031	-116	c.519 others(17): Show c.519-3123_519-3008del	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCCB_chr3_136245340_136335169	136299450	GTATGCAT others(109): Show GTATGCATGTGTATGTATAGGTATGCATGTGTATGTATGTATATGCATGT GTATGTATAGGTATGCATGTGTATGTATGTATATGCATGTGTATAGGTAT GCATGTGTATGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	298	0.0034	-116	c.884 others(17): Show c.884+1472_885-1371del	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCGF3_chr4_700832_775089	744929	CGGGGGTC others(109): Show CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03486.hp2 HG01978.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0005	a0001c0001t0002g0336 a0001c0003t0005g0325 a0001c0001t0002g0336 a0001c0003t0005g0325	2	358	0.0056	-116	c.462 others(15): Show c.462+246_462+361del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746234	GGCCCGGG others(109): Show GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18978.hp1 NA18968.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0064 a0001c0001t0006 a0001c0001t0064	a0001c0001t0006g0102 a0001c0001t0064g0113 a0001c0001t0006g0102 a0001c0001t0064g0113	2	364	0.0055	-116	c.462 others(17): Show c.462+1547_462+1662del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10			chr4	TogoVar
PCGF3_chr4_700832_775089	746750	CGGGGGTC others(109): Show CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18999.hp1 HG02300.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0186 a0001c0001t0018g0318 a0001c0001t0002g0186 a0001c0001t0018g0318	2	339	0.0059	-116	c.462 others(17): Show c.462+2067_462+2182del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747320	CGGGGGTC others(109): Show CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02074.hp1 HG02165.hp1 others(4): Show HG00609.hp1 HG02074.hp1 HG02165.hp1 HG02965.hp2 HG03195.hp1 HG03490.hp1 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0027 a0001c0001t0038 others(2): Show a0001c0001t0014 a0001c0001t0027 a0001c0001t0038 a0002c0002t0003 a0002c0002t0048	a0001c0001t0014g0063 a0001c0001t0027g0041 a0001c0001t0038g0043 others(4): Show a0001c0001t0014g0063 a0001c0001t0027g0041 a0001c0001t0038g0043 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0024 a0002c0002t0048g0021	7	351	0.0199	-116	c.462 others(17): Show c.462+2637_462+2752del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCLO_chr7_82749012_83167884	82999581	TATTAAAA others(109): Show TATTAAAATATAAAATATAATATTATATATAAAATATAAAATATAATATT ATATTAAAATATAAAATATAATATTATATATAAAATATAAAATATATTAT ATATAAAATAATATATA	T T	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0003 a0003	a0003c0056 a0003c0056	a0003c0056t0003 a0003c0056t0003	a0003c0056t0003g0101 a0003c0056t0003g0101	1	162	0.0062	-116	c.330 others(21): Show c.3301-33210_3301-33095del	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCMT1_chr6_149744741_149816419	149763093	ATATGATA others(109): Show ATATGATATATATATCTATGATATGTATATCTATGATATATATGATATAT ATATCTATGATATATATCTATGATATCTATGATATATATCTATGATATCT ATGATATATATATCTAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	329	0.0030	-116	c.56- others(15): Show c.56-8068_56-7953del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7			chr6	TogoVar
PDGFRB_chr5_150108839_150160845	150142561	GGGTTGGG others(109): Show GGGTTGGGGTGGGAAGTAAGAAGACCTGGCTCTAGTCCCGGCTGTGACAC CCACTTATAGGATAGTGGTCCCCCCTATCTGCAGGGAATACATTCCAAGG CCCCAGTAGATGCCTGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01981.hp2 HG02809.hp1 others(1): Show HG01891.hp2 HG01981.hp2 HG02809.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0093 a0001c0001t0015g0060 a0001c0001t0015g0061 others(1): Show a0001c0001t0007g0093 a0001c0001t0015g0060 a0001c0001t0015g0061 a0001c0001t0015g0062	4	416	0.0096	-116	c.-6- others(15): Show c.-6-5624_-6-5509del	PDGFRB	ENSG00000113721.14	transcript	ENST00000261799.9	protein_coding	1/22			chr5	TogoVar
PDXK_chr21_43714129_43767299	43741291	CGGGGGGG others(109): Show CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	248	0.0040	-116	c.143 others(15): Show c.143-369_143-254del	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31849879	TATATATA others(109): Show TATATATATACACATATATATATATACATATATATATATACATATATATA TATACACATATATATATATACATATATATATATACACATATATATATATA CATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02080.hp2 HG02135.hp2 others(7): Show HG01496.hp2 HG02080.hp2 HG02135.hp2 HG03098.hp2 HG03225.hp2 HG03831.hp1 NA18942.hp1 NA19005.hp1 NA19009.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0028	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0002c0011 a0003c0004 a0004c0029 a0010c0023 a0028c0054	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0003t0005 a0002c0011t0001 a0002c0011t0002 a0003c0004t0001 a0004c0029t0049 a0010c0023t0029 a0028c0054t0009	a0001c0001t0001g0046 a0001c0001t0003g0008 a0002c0002t0001g0150 others(7): Show a0001c0001t0001g0046 a0001c0001t0003g0008 a0002c0002t0001g0150 a0002c0003t0005g0017 a0002c0011t0001g0121 a0002c0011t0002g0124 a0003c0004t0001g0168 a0004c0029t0049g0001 a0010c0023t0029g0180 a0028c0054t0009g0039	10	208	0.0481	-116	c.476 others(19): Show c.476+50165_476+50280del	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PFKFB3_chr10_6197932_6240532	6206726	ATGGCGGC others(109): Show ATGGCGGCCAGGAAGAGGCGCTCCTCACTTTCCAGACTGGGCAGCCAGGC AGAGGGGGTCCTCACATCCCAGACGATGGGCGGCCGGGCAGAGACGCTCC TCACTTCCCAGACGGGG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0233 a0001c0002t0015g0233	1	430	0.0023	-116	c.76+ others(15): Show c.76+3399_76+3514del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6206738	AAGAGGCG others(109): Show AAGAGGCGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGGTCCT CACATCCCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCCAGA CGGGGTGGCGGCCGGGC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp1 HG02647.hp2 others(1): Show HG01255.hp2 HG02055.hp1 HG02647.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0080 a0001c0001t0084 others(1): Show a0001c0001t0010 a0001c0001t0080 a0001c0001t0084 a0001c0002t0010	a0001c0001t0010g0048 a0001c0001t0080g0050 a0001c0001t0084g0047 others(1): Show a0001c0001t0010g0048 a0001c0001t0080g0050 a0001c0001t0084g0047 a0001c0002t0010g0049	4	430	0.0093	-116	c.76+ others(15): Show c.76+3407_76+3522del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6206743	GCGCTCCT others(109): Show GCGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGGTCCTCACAT CCCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCCAGACGGGG TGGCGGCCGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(147): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0001c0001t0077 a0001c0001t0082 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0002t0004 a0001c0002t0021 a0001c0002t0035 a0001c0002t0041 a0001c0003t0008 a0001c0003t0025 a0001c0004t0014 a0001c0005t0001 a0001c0005t0005 a0001c0005t0033	a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0075 others(142): Show a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0299 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0002g0086 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0181 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0206 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0157 a0001c0001t0004g0136 a0001c0001t0004g0143 a0001c0001t0004g0153 a0001c0001t0005g0005 a0001c0001t0005g0085 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0101 a0001c0001t0005g0104 a0001c0001t0005g0110 a0001c0001t0005g0127 a0001c0001t0005g0162 a0001c0001t0005g0399 a0001c0001t0006g0108 a0001c0001t0006g0126 a0001c0001t0006g0146 a0001c0001t0006g0160 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0376 a0001c0001t0006g0401 a0001c0001t0007g0148 a0001c0001t0008g0168 a0001c0001t0009g0096 a0001c0001t0009g0125 a0001c0001t0009g0193 a0001c0001t0010g0205 a0001c0001t0010g0216 a0001c0001t0011g0166 a0001c0001t0011g0184 a0001c0001t0011g0195 a0001c0001t0012g0082 a0001c0001t0012g0120 a0001c0001t0012g0121 a0001c0001t0012g0131 a0001c0001t0012g0142 a0001c0001t0013g0078 a0001c0001t0015g0198 a0001c0001t0017g0107 a0001c0001t0017g0111 a0001c0001t0017g0189 a0001c0001t0018g0055 a0001c0001t0020g0167 a0001c0001t0023g0087 a0001c0001t0023g0173 a0001c0001t0023g0175 a0001c0001t0025g0112 a0001c0001t0025g0149 a0001c0001t0032g0172 a0001c0001t0032g0178 a0001c0001t0033g0177 a0001c0001t0034g0174 a0001c0001t0034g0190 a0001c0001t0036g0081 a0001c0001t0037g0203 a0001c0001t0040g0154 a0001c0001t0051g0179 a0001c0001t0052g0176 a0001c0001t0053g0188 a0001c0001t0055g0182 a0001c0001t0056g0402 a0001c0001t0059g0185 a0001c0001t0069g0024 a0001c0001t0072g0330 a0001c0001t0074g0169 a0001c0001t0077g0140 a0001c0001t0082g0135 a0001c0001t0085g0134 a0001c0001t0086g0413 a0001c0001t0087g0412 a0001c0002t0004g0358 a0001c0002t0021g0204 a0001c0002t0035g0201 a0001c0002t0041g0077 a0001c0003t0008g0335 a0001c0003t0008g0400 a0001c0003t0025g0094 a0001c0004t0014g0391 a0001c0005t0001g0170 a0001c0005t0001g0187 a0001c0005t0005g0088 a0001c0005t0033g0180	150	426	0.3521	-116	c.76+ others(15): Show c.76+3447_76+3562del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6206783	GTCCTCAC others(109): Show GTCCTCACATCCCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTC CCAGACGGGGTGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01943.hp2 others(2): Show HG01074.hp2 HG01099.hp2 HG01943.hp2 HG03130.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0016 a0001c0001t0064 a0001c0001t0065 others(2): Show a0001c0001t0016 a0001c0001t0064 a0001c0001t0065 a0001c0002t0088 a0001c0003t0005	a0001c0001t0016g0270 a0001c0001t0064g0271 a0001c0001t0065g0269 others(2): Show a0001c0001t0016g0270 a0001c0001t0064g0271 a0001c0001t0065g0269 a0001c0002t0088g0272 a0001c0003t0005g0293	5	378	0.0132	-116	c.76+ others(15): Show c.76+3475_76+3590del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6206811	GGGCAGAG others(109): Show GGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGAC GCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACGATGGGCGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02083.hp2 HG02602.hp1 HG01123.hp2 HG02083.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0003g0331 a0001c0001t0004g0329 a0001c0001t0009g0398 a0001c0001t0003g0331 a0001c0001t0004g0329 a0001c0001t0009g0398	3	422	0.0071	-116	c.76+ others(15): Show c.76+3485_76+3600del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6206821	GCTCCTCA others(109): Show GCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGACGCTCCTCACT TTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGG GCGGCCAGGCAGAGACA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG01069.hp2 others(31): Show HG00642.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01934.hp2 HG02074.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG03491.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18963.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18993.hp2 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19078.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0001g0213 a0001c0001t0001g0218 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0001g0277 a0001c0001t0002g0210 a0001c0001t0002g0227 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0264 a0001c0001t0003g0211 a0001c0001t0004g0247 a0001c0001t0005g0001 a0001c0001t0005g0228 a0001c0001t0005g0316 a0001c0001t0006g0231 a0001c0001t0007g0012 a0001c0001t0008g0309 a0001c0001t0009g0214 a0001c0001t0009g0240 a0001c0001t0015g0212 a0001c0001t0015g0235 a0001c0001t0017g0215	34	389	0.0874	-116	c.76+ others(15): Show c.76+3496_76+3611del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLD5_chr1_242077986_242529697	242393491	TATATATG others(109): Show TATATATGTGTATATATGAGTATATATATATGTGTATATATGTGAGTATA TATATGTGTATATATATGAGTATATATGTGTATATATATGAGTATACATA TGTGTATATATATGAGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp2 HG01981.hp2 others(7): Show HG00423.hp2 HG01243.hp2 HG01981.hp2 HG02559.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0001t0026 a0001c0001t0029 a0001c0001t0050 a0001c0002t0003 a0001c0002t0011 a0001c0002t0068	a0001c0001t0002g0104 a0001c0001t0005g0024 a0001c0001t0007g0042 others(7): Show a0001c0001t0002g0104 a0001c0001t0005g0024 a0001c0001t0007g0042 a0001c0001t0021g0116 a0001c0001t0026g0065 a0001c0001t0029g0033 a0001c0001t0050g0120 a0001c0002t0003g0138 a0001c0002t0011g0142 a0001c0002t0068g0149	10	186	0.0538	-116	c.190 others(19): Show c.190-45365_190-45250del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	164897	CAGTAATG others(109): Show CAGTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGG GGCTTACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCAGGGCTCACAG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01069.hp1 HG01074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0008 a0002c0003t0001 a0002c0003t0008	a0002c0003t0001g0097 a0002c0003t0008g0209 a0002c0003t0001g0097 a0002c0003t0008g0209	2	174	0.0115	-116	c.347 others(19): Show c.3476+1350_3476+1465del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137522258	CAGAGACG others(109): Show CAGAGACGGGGTTTCACCGTGTGAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCACCTCGGCCTCCCACAGTGCTGGGGTTACAGGCGGGA GCCGCCGCGCCCGGCCA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp1 HG02083.hp2 others(8): Show HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02622.hp2 HG02809.hp2 HG02897.hp2 HG02965.hp1 HG03579.hp1 NA18906.hp1 NA19064.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0022 a0024	a0001c0002 a0002c0003 a0002c0004 others(5): Show a0001c0002 a0002c0003 a0002c0004 a0002c0026 a0004c0005 a0006c0017 a0022c0031 a0024c0036	a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 others(5): Show a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 a0002c0026t0001 a0004c0005t0001 a0006c0017t0001 a0022c0031t0001 a0024c0036t0001	a0001c0002t0001g0111 a0002c0003t0001g0005 a0002c0003t0001g0017 others(8): Show a0001c0002t0001g0111 a0002c0003t0001g0005 a0002c0003t0001g0017 a0002c0003t0001g0033 a0002c0004t0001g0032 a0002c0026t0001g0160 a0004c0005t0001g0040 a0006c0017t0001g0099 a0006c0017t0001g0112 a0022c0031t0001g0097 a0024c0036t0001g0153	11	180	0.0611	-116	c.876 others(15): Show c.876+355_876+470del	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	9/34			chr9	TogoVar
PPA1_chr10_70197835_70238429	70220590	TTATATAT others(109): Show TTATATATAATTTATATATATATTATATATAATTTATATATATATAATAT ATATAATTTATATATATATTATATATAATTTATATATATATAATATATAT AATTTATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG00673.hp1 others(63): Show HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01081.hp1 HG01123.hp1 HG01192.hp1 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02602.hp2 HG02970.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18946.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp1 NA18982.hp2 NA18989.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19076.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0242 a0001c0001t0001g0243	66	406	0.1626	-116	c.124 others(17): Show c.124-1889_124-1774del	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPP2R3B_chrX_328933_391907	341035	CCCCGCTG others(109): Show CCCCGCTGTGCCTTGCAGCCCCCACCGGGCGTGCAGGCATCCCCTGCCCC CTGCCGCCCCCACCGGGCGCGCACGCGTCCCCCTGTGCCGTGCAGCCCCC ACCAGGCGTGCACATGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0008 a0004c0010t0008	a0004c0010t0008g0024 a0004c0010t0008g0024	1	24	0.0417	-116	c.117 others(16): Show c.1175+156_1176-96del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	9/12			chrX	TogoVar
PRKCB_chr16_23830983_24225611	24021211	TTTCTTTC others(109): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCTTCCTTTCTT CCTTTCTTTTTCTTTCTTTTCTCCCTCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0078 a0001c0002t0023g0078	1	139	0.0072	-116	c.289 others(19): Show c.289-10921_289-10806del	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2106449	GACTCTCA others(109): Show GACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCACCA GGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACACG TGTCACCAGGCCAGGTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp2 HG02572.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0242 a0001c0003t0001g0194 a0001c0001t0001g0242 a0001c0003t0001g0194	2	261	0.0077	-116	c.335 others(19): Show c.335-28716_335-28601del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106547	CGTGTCAC others(109): Show CGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAGGA CCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTG GGCGAGGACCTCCACGT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	127	0.0079	-116	c.335 others(19): Show c.335-28677_335-28562del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106604	ACGTGTCA others(109): Show ACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGG ACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGT GGGCGAGGACCTCCATG	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0227 a0001c0003t0001g0227	1	135	0.0074	-116	c.335 others(19): Show c.335-28658_335-28543del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKG1_chr10_51069487_52303350	51393302	TGGCGGCC others(109): Show TGGCGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGG GCAGAGATGTTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGACTCC TCAACTCCCAGACGATG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	64	0.0156	-116	c.479 others(19): Show c.479-74413_479-74298del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRR5L_chr11_36291288_36470204	36351571	TTATATAA others(109): Show TTATATAAATATATATTTATATATTTATATAAATATATATTTATATATTT ATATATTTATATAAATATATATTTATATATTTATATAAATATATATTTAT ATACTTATATATTTATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0022 a0002c0003t0022	a0002c0003t0022g0271 a0002c0003t0022g0271	1	230	0.0043	-116	c.-12 others(21): Show c.-125-49422_-125-49307del	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36351575	ATAAATAT others(109): Show ATAAATATATATTTATATATTTATATAAATATATATTTATATATTTATAT ATTTATATAAATATATATTTATATATTTATATAAATATATATTTATATAC TTATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(67): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01516.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02647.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp1 HG03688.hp1 HG03831.hp2 HG04115.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0002c0005 a0003c0006 a0005c0011 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0018 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0001c0007t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0010 a0002c0005t0001 a0003c0006t0008 a0005c0011t0001 a0005c0011t0002 a0008c0019t0003	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(67): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0076 a0001c0001t0001g0136 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0268 a0001c0001t0002g0070 a0001c0001t0002g0157 a0001c0001t0002g0169 a0001c0001t0002g0189 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0003g0014 a0001c0001t0003g0031 a0001c0001t0003g0135 a0001c0001t0003g0172 a0001c0001t0004g0072 a0001c0001t0007g0007 a0001c0001t0009g0015 a0001c0001t0011g0140 a0001c0001t0011g0210 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0158 a0001c0002t0001g0167 a0001c0002t0001g0217 a0001c0002t0001g0241 a0001c0002t0001g0251 a0001c0002t0002g0155 a0001c0002t0018g0108 a0001c0004t0001g0109 a0001c0004t0001g0139 a0001c0004t0001g0168 a0001c0004t0001g0173 a0001c0004t0001g0177 a0001c0004t0001g0209 a0001c0004t0002g0156 a0001c0004t0002g0249 a0001c0004t0002g0250 a0001c0007t0001g0105 a0001c0007t0001g0107 a0001c0007t0001g0110 a0001c0007t0002g0208 a0002c0003t0003g0068 a0002c0003t0003g0069 a0002c0003t0006g0130 a0002c0003t0006g0215 a0002c0003t0010g0151 a0002c0003t0010g0152 a0002c0005t0001g0111 a0003c0006t0008g0248 a0005c0011t0001g0159 a0005c0011t0002g0010 a0008c0019t0003g0180	70	258	0.2713	-116	c.-12 others(21): Show c.-125-49419_-125-49304del	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRUNE2_chr9_76606376_76911114	76791208	TATACTGC others(109): Show TATACTGCACCAATTATCATTGGTACAATAATACTGCACCAATTATCATT GGTACAATAATACTGCACCAATTATCATTGGTACAATAATACTGCACCAA TTATCATTGGTACAATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG03239.hp1 others(1): Show HG02055.hp2 HG03225.hp1 HG03239.hp1 NA18747.hp2	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0003c0003 a0011c0014 a0002c0002 a0003c0003 a0011c0014	a0002c0002t0001 a0003c0003t0001 a0011c0014t0005 a0002c0002t0001 a0003c0003t0001 a0011c0014t0005	a0002c0002t0001g0011 a0002c0002t0001g0023 a0003c0003t0001g0155 others(1): Show a0002c0002t0001g0011 a0002c0002t0001g0023 a0003c0003t0001g0155 a0011c0014t0005g0099	4	84	0.0476	-116	c.756 others(19): Show c.756+32308_756+32423del	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PTGR1_chr9_111557567_111604647	111560994	GAGAGAGA others(109): Show GAGAGAGAGAGAGAGAGAGAGAGAGGTGGCAGTGAGTGGAGATCGCACCA CTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTAAAATATATATA TATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03139.hp1 HG03098.hp2 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0220 a0002c0002t0002g0202 a0002c0002t0002g0220	2	405	0.0049	-116	c.20 others(11): Show c.2011_*2126del	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1572		chr9	TogoVar
R3HDM4_chr19_891503_918219	900577	CACTAGGT others(109): Show CACTAGGTCCAACCCACTCCAGGTCCCGCCCACACCCCATCCATATCCTG CCCCCCATCGCGGCCCCACCCACCCCAGGCCTCGCCCCCATCCCCCATCC ATACCTGGGCCCAACAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp1 HG02257.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0195 a0001c0001t0002g0178 a0001c0001t0001g0195 a0001c0001t0002g0178	2	430	0.0047	-116	c.475 others(15): Show c.475+136_475+251del	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding	4/7			chr19	TogoVar
RAB12_chr18_8604437_8644383	8634167	TGGTGACT others(109): Show TGGTGACTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAAGCAAGAGG ATCACTTGAACCCAGGAGGTCGAGACCAGCCTGGGCAACATAGTGGGACT CCATCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0101 a0001c0001t0012g0101	1	402	0.0025	-116	c.714 others(15): Show c.714+841_714+956del	RAB12	ENSG00000206418.5	transcript	ENST00000649141.2	protein_coding	3/5			chr18	TogoVar
RELN_chr7_103466789_103994658	103909638	ATAAATAT others(109): Show ATAAATATATATATTTAATATATATAAATATATATTAAATATATTTAATA AATATATATATTTAATATATATAAATATATATTAAATATATTTTTTAATA TATATAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02132.hp2 HG02258.hp2 others(9): Show HG01192.hp2 HG02132.hp2 HG02258.hp2 HG02683.hp1 NA18941.hp1 NA18965.hp2 NA18969.hp2 NA19009.hp2 NA19030.hp2 NA19080.hp2 NA19088.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0016 a0033	a0001c0002 a0001c0006 a0001c0007 others(8): Show a0001c0002 a0001c0006 a0001c0007 a0001c0023 a0001c0065 a0002c0009 a0002c0014 a0002c0015 a0003c0016 a0016c0060 a0033c0077	a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 others(8): Show a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0023t0001 a0001c0065t0002 a0002c0009t0001 a0002c0014t0001 a0002c0015t0001 a0003c0016t0001 a0016c0060t0002 a0033c0077t0001	a0001c0002t0001g0083 a0001c0006t0001g0087 a0001c0007t0001g0115 others(9): Show a0001c0002t0001g0083 a0001c0006t0001g0087 a0001c0007t0001g0115 a0001c0023t0001g0102 a0001c0065t0002g0026 a0002c0009t0001g0056 a0002c0009t0001g0057 a0002c0014t0001g0088 a0002c0015t0001g0055 a0003c0016t0001g0098 a0016c0060t0002g0030 a0033c0077t0001g0155	12	182	0.0659	-116	c.337 others(17): Show c.337+7321_337+7436del	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
RETNLB_chr3_108750638_108762410	108759523	GTATGTAT others(109): Show GTATGTATGTGTATACATACATATGTATGTATGTGTATACATACATATGT ATGTATGTGTATACATACATATGTATGTATGTGTATACATACATATGTAT GTATGTGTATACATACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02630.hp1 HG03139.hp2 others(2): Show HG01192.hp1 HG02630.hp1 HG03139.hp2 HG03688.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0003 a0001c0001t0002g0008	5	351	0.0142	-116	c.-24 others(11): Show c.-2454_-2339del	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2114		chr3	TogoVar
RFX2_chr19_5988164_6115500	6024789	GAGGACGG others(109): Show GAGGACGGGATCACGGTGAGGACGGGAGTGAGGACGGGATCACGGTGAGG ACGGGAGTGAGGACGGGATCACGGTGAGGACGGGAGTGAGGACGGGATCA CGGTGAGGACGGGAGTC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	306	0.0033	-116	c.597 others(17): Show c.597+1258_597+1373del	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	6/17			chr19	TogoVar
RTN1_chr14_59590983_59875776	59749547	TTATATAG others(109): Show TTATATAGATATCTATATATAGATATATATATATAGATATTTATATATAT ATCTATCTATATATATTTATATAGATATCTATATATAGATATCTATATAT ATTTATATAGATATCTA	T T	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	149	0.0067	-116	c.242 others(17): Show c.242-3182_242-3067del	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RYR1_chr19_38428691_38592564	38540486	ATAATAAA others(109): Show ATAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATAT ACTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAATCTCC AATCATATACTACAGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01175.hp2 HG01243.hp2 others(18): Show HG01070.hp1 HG01175.hp2 HG01243.hp2 HG01943.hp2 HG02015.hp1 HG02074.hp1 HG03017.hp2 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18955.hp1 NA18970.hp2 NA19000.hp2 NA19004.hp2 NA19067.hp1 NA19084.hp1	a0001 a0006 a0009 others(4): Show a0001 a0006 a0009 a0011 a0013 a0025 a0027	a0001c0019 a0001c0022 a0001c0029 others(13): Show a0001c0019 a0001c0022 a0001c0029 a0001c0031 a0001c0034 a0001c0035 a0001c0094 a0001c0105 a0001c0116 a0006c0016 a0006c0107 a0009c0103 a0011c0021 a0013c0048 a0025c0060 a0027c0061	a0001c0019t0002 a0001c0022t0001 a0001c0029t0001 others(13): Show a0001c0019t0002 a0001c0022t0001 a0001c0029t0001 a0001c0031t0001 a0001c0034t0001 a0001c0035t0001 a0001c0094t0001 a0001c0105t0001 a0001c0116t0001 a0006c0016t0001 a0006c0107t0001 a0009c0103t0001 a0011c0021t0001 a0013c0048t0001 a0025c0060t0001 a0027c0061t0001	a0001c0019t0002g0217 a0001c0019t0002g0218 a0001c0022t0001g0084 others(18): Show a0001c0019t0002g0217 a0001c0019t0002g0218 a0001c0022t0001g0084 a0001c0022t0001g0086 a0001c0029t0001g0114 a0001c0029t0001g0129 a0001c0031t0001g0178 a0001c0034t0001g0177 a0001c0035t0001g0063 a0001c0094t0001g0115 a0001c0105t0001g0075 a0001c0116t0001g0080 a0006c0016t0001g0087 a0006c0016t0001g0088 a0006c0107t0001g0113 a0009c0103t0001g0144 a0011c0021t0001g0167 a0011c0021t0001g0168 a0013c0048t0001g0070 a0025c0060t0001g0062 a0027c0061t0001g0073	21	182	0.1154	-116	c.116 others(21): Show c.11689+2621_11690-2651del	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105		INFO_REALIGN_3_PRIME	chr19	TogoVar

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