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
ERC1_chr12_986223_1500931	1122167	GTGTCTCT others(453): Show GTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0097 a0002c0002t0028g0097	1	137	0.0073	-460	c.156 others(19): Show c.1569+6136_1569+6595del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241806947	CCACCTTC others(453): Show CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGA CCCGGGAAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 NA19064.hp1 HG02486.hp2 NA19064.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0001 a0003c0007t0001 a0002c0002t0001 a0003c0007t0001	a0002c0002t0001g0003 a0003c0007t0001g0043 a0002c0002t0001g0003 a0003c0007t0001g0043	2	312	0.0064	-460	c.27 others(11): Show c.2782_*3241del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2661		chr2	TogoVar
GPR156_chr3_120160478_120290222	120175136	CAGACTGA others(453): Show CAGACTGAGGCCTCTCTGCAGGGCTGGCAGAGGAGCAGCTCAGCACTGGC GTAAGGGCCCTCCCAGGGCTTTTGGTCTTCCTGTCTCTAAATTGGCCAAG TGGAGCCAAGATACCCCTTGATTACTCTAGCCCTTCATTCCTCATTTGTG AAGATACTCCTTAAGGCTCAACCCTTCAGGGTTTCTGGAATCCAGCTATG AATTTCACAATTCAGGGCCTCTCCTCTGCCTTCCTCCAGAAGGACAGGCA GATTCTGGTTTTCTGAGCCTCTGGGCTATGGGGGTGTGGCAGACTGAACA GTGGCTTCTCAAAGATGTTCTCTCTCATCCTAATTCCTGGAGCCTGTGAA TATGTGACCTTATGTGGCAAAAGGGACTTTGCAAATGTAATTAAGGATTT CAAGAGGGGTGATTATTCTGGGTTATCCAAGTGGGCCCAATGTAATCACA AGAATCCTTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(281): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0005 others(10): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016	a0001c0001 a0001c0020 a0003c0003 others(12): Show a0001c0001 a0001c0020 a0003c0003 a0003c0016 a0005c0005 a0006c0006 a0007c0008 a0008c0007 a0009c0010 a0010c0009 a0011c0017 a0012c0019 a0013c0015 a0015c0011 a0016c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0020t0002 a0003c0003t0002 a0003c0003t0004 a0003c0016t0002 a0005c0005t0003 a0006c0006t0002 a0007c0008t0003 a0008c0007t0004 a0009c0010t0003 a0010c0009t0003 a0011c0017t0003 a0012c0019t0002 a0013c0015t0004 a0015c0011t0013 a0016c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0058 others(269): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0162 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0198 a0001c0001t0002g0224 a0001c0001t0002g0249 a0001c0001t0002g0296 a0001c0001t0003g0013 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0064 a0001c0001t0003g0097 a0001c0001t0003g0103 a0001c0001t0003g0145 a0001c0001t0003g0232 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0289 a0001c0001t0003g0294 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0016 a0001c0001t0004g0061 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0204 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0298 a0001c0001t0007g0008 a0001c0001t0007g0159 a0001c0001t0007g0166 a0001c0001t0007g0171 a0001c0001t0008g0011 a0001c0001t0008g0279 a0001c0001t0008g0282 a0001c0001t0009g0266 a0001c0001t0009g0267 a0001c0001t0010g0278 a0001c0001t0010g0306 a0001c0001t0011g0308 a0001c0001t0011g0309 a0001c0001t0012g0012 a0001c0001t0014g0034 a0001c0001t0015g0017 a0001c0001t0016g0185 a0001c0001t0017g0295 a0001c0001t0018g0307 a0001c0020t0002g0131 a0003c0003t0002g0086 a0003c0003t0002g0303 a0003c0003t0002g0304 a0003c0003t0004g0014 a0003c0003t0004g0015 a0003c0016t0002g0305 a0005c0005t0003g0018 a0005c0005t0003g0059 a0005c0005t0003g0222 a0006c0006t0002g0148 a0006c0006t0002g0154 a0006c0006t0002g0163 a0007c0008t0003g0036 a0007c0008t0003g0056 a0008c0007t0004g0287 a0008c0007t0004g0288 a0009c0010t0003g0238 a0009c0010t0003g0241 a0010c0009t0003g0022 a0010c0009t0003g0027 a0011c0017t0003g0062 a0012c0019t0002g0135 a0013c0015t0004g0205 a0015c0011t0013g0221 a0016c0014t0002g0157	284	320	0.8875	-460	c.934 others(17): Show c.934-2126_934-1667del	GPR156	ENSG00000175697.11	transcript	ENST00000464295.6	protein_coding	8/9			chr3	TogoVar
KIF1A_chr2_240708767_240825219	240779024	ACACTCAG others(453): Show ACACTCAGTTCCACACTCAGTCCCTCACTCAGTTCCACACTCAGTTCCTC ACAGTTCCACACTCAGTTCCTCACTCACTTCCTCACTCAGTTCCTCATAG TTCCACACTCAGTTCCTCACAGTTCCACACAGTTCCACACTCAGTTCCAC ACTCAGTCCCTCACTCAGTTCCACACTCAGTTCCTCACAGTTCCACACTC AGTTCCACACTCAGTCCCTCACTCAGTTCCACACTCAGTTCCTCACTCAC TTCCTCACTCAGTTCCTCATAGTTCCACACTCAGTTCCTCACTCACTTCC TCACTCAGTTCCTCATAGTTCCACACTCAGTTCCTCACTCAGTTCCTCAC TCAGTTCCTCATAGTTCCACACTCAGTTCCTCATCGTTCCACACTCAGGT CCTCACTCACTTCCTCACTCAGCTCCTCATAGTTCCACACTCAGTTCCTC ACTCAGTTCCT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01891.hp2 others(11): Show HG01167.hp1 HG01169.hp2 HG01891.hp2 HG02258.hp1 HG02559.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0009 a0001c0015 a0001c0016 others(4): Show a0001c0009 a0001c0015 a0001c0016 a0001c0022 a0001c0023 a0001c0049 a0001c0050	a0001c0009t0001 a0001c0009t0009 a0001c0015t0004 others(6): Show a0001c0009t0001 a0001c0009t0009 a0001c0015t0004 a0001c0015t0009 a0001c0016t0007 a0001c0022t0007 a0001c0023t0007 a0001c0049t0022 a0001c0050t0005	a0001c0009t0001g0001 a0001c0009t0009g0011 a0001c0009t0009g0012 others(10): Show a0001c0009t0001g0001 a0001c0009t0009g0011 a0001c0009t0009g0012 a0001c0015t0004g0157 a0001c0015t0009g0015 a0001c0015t0009g0031 a0001c0015t0009g0158 a0001c0016t0007g0163 a0001c0022t0007g0162 a0001c0023t0007g0131 a0001c0023t0007g0132 a0001c0049t0022g0160 a0001c0050t0005g0164	14	328	0.0427	-460	c.882 others(17): Show c.882+3106_883-3099del	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
MCF2L_chr13_112964214_113104742	113068310	AACGCTGG others(453): Show AACGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGAT TGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGT CGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCT ACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCAC AGCTGGAGTCCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTG CACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCG CAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTAC TTGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0103	1	114	0.0088	-460	c.882 others(17): Show c.882-1748_882-1289del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29			chr13	TogoVar
NEU4_chr2_241804193_241822413	241806947	CCACCTTC others(453): Show CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGA CCCGGGAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	318	0.0031	-460	c.-23 others(11): Show c.-2330_-1871del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2245		chr2	TogoVar
NKAIN3_chr8_62243854_62989904	62263283	GTAGTCAA others(453): Show GTAGTCAAAGGTCTTATAAAAACAGAAATGTACTTCTTTAGTCAATATGT AGTTTGCTTTATATTAAATGAAGAGGTAATCTGGAATGTACATTTGGATT AAGTGTCAGCTGTAATGCCTATGTGCTTTTCATGGCCCAAAAGGAAAGGA AAAACAGTGGAGAACTGTTATCCTACAGGCATCAGAATTACGCTGATGGG CCATCAGCTGCTCGGCAGCCAAGCATTTCTCCAAGGTGCTCCAGTGAGTA CTGCAGGCTGACCTCATGGATGTATGGGTGAAGAATCACAACTAGATGAC AGGACTAGTATTCTAGGACCAATATTTAATGTGACGTAACTTAATCCAAG TTGGTATATGATTATGATAGTAGCCAAAAATCAGATGACATTAGAAATAG GTGGCCCAGATTGAAATAGATGTGACTGAAAACATAGTGTAGTAAACCAC TGCAAATTTAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0075 a0001c0001t0069g0075	1	144	0.0069	-460	c.54+ others(17): Show c.54+14159_54+14618del	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC12A7_chr5_1045384_1117063	1071097	GGCATCAC others(453): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGT GAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGC CCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	116	0.0086	-460	c.224 others(19): Show c.2241+2076_2241+2535del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79920564	GTCAGTGA others(453): Show GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTC AGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGA GGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGA ACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAG GTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGA GGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACG GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp1 HG02723.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0220 a0001c0001t0008g0227 a0001c0001t0008g0220 a0001c0001t0008g0227	2	345	0.0058	-460	c.392 others(17): Show c.392-1624_392-1165del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
STAT3_chr17_42308324_42393442	42337881	TGACCTGA others(453): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	285	0.0035	-460	c.550 others(14): Show c.550+390_551-25del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42337901	TGACCTGA others(453): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	285	0.0035	-460	c.550 others(14): Show c.550+370_551-45del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
VSIG10_chr12_118058593_118109011	118096389	ACCAACAT others(453): Show ACCAACATGCAAAAACCCTGTCTCTACTAAAAATACAAAATCAGCTGGGC GTGGTAGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAAGCAGGAG AATCGCTTGAACCTGGGAAGCAGAGGTTGCGCTGAGCCGAGATCGCACCA TTGCACTCCAGCCTGGGCAACAAGAGCGTAACTCCGTCTCAAAAAAAAAA AAAAAAGCACAAAAAATTAGCTGGGCATGTAGTCCCAGCTAGTTGGGAGT CTGAGGCAGGAGAATCACTTGATCCGCCGGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCATGAGCCACCGTGCCTGACCATATGTGTTCTTAAGATG CAATAACACATACAGAGCAGCTGGGCGTAGCGGCTCATGCCTGTAATCCC AGCACTTTGGGAGTCCAAGACAGGCAGATCTCCTAAGGTCAGGAGTTCGA GACCAGCCTGG	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0271 a0002c0003t0012g0271	1	410	0.0024	-460	c.80- others(14): Show c.80-1035_80-576del	VSIG10	ENSG00000176834.14	transcript	ENST00000359236.10	protein_coding	1/8			chr12	TogoVar
YAF2_chr12_42152104_42243248	42228020	TGGGGGGT others(453): Show TGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCGTCCTGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGCG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCC GGCCAGCCACCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCTCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp2 others(54): Show HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01243.hp2 HG01257.hp2 HG01975.hp1 HG02071.hp1 HG02083.hp2 HG02135.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp2 HG02965.hp1 HG03139.hp1 HG03239.hp2 HG03669.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18973.hp1 NA18982.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0024 a0001c0005t0021	a0001c0002t0002g0083 a0001c0002t0002g0089 a0001c0002t0002g0170 others(54): Show a0001c0002t0002g0083 a0001c0002t0002g0089 a0001c0002t0002g0170 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0243 a0001c0002t0002g0247 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0264 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0331 a0001c0002t0002g0345 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0005g0280 a0001c0002t0005g0281 a0001c0002t0005g0335 a0001c0002t0005g0336 a0001c0002t0005g0337 a0001c0002t0005g0338 a0001c0002t0005g0339 a0001c0002t0005g0340 a0001c0002t0005g0341 a0001c0002t0005g0342 a0001c0002t0007g0263 a0001c0002t0007g0265 a0001c0002t0007g0267 a0001c0002t0007g0278 a0001c0002t0007g0279 a0001c0002t0007g0293 a0001c0002t0024g0228 a0001c0005t0021g0352	57	359	0.1588	-460	c.152 others(17): Show c.152+9119_152+9578del	YAF2	ENSG00000015153.15	transcript	ENST00000534854.7	protein_coding	2/3			chr12	TogoVar
ZC3H3_chr8_143432659_143546447	143487451	CCACCACG others(453): Show CCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCAC CACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCATCACCACG AAGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGC TCAGACACAGAACAGCACCCGCTACACGACCCCACCACCACGAAGCTCAC ACACAGAACAGCACCCGCTACACGACCCCATCACCACGAAGCTCACACAC AGAACAGCACCCGCTACACTGCCCCATCACCACGAAGCTCAGACACAGAA CAGCACCCGCTACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGC ACCCGCTACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCC GCTCCACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTC CACGACCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0026 a0001c0001t0001g0027	2	269	0.0074	-460	c.171 others(21): Show c.1716-12326_1716-11867del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143487512	CACACAGA others(453): Show CACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCACACA CAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACAGA ACAGCACCCGCTACACGACCCCACCACCACGAAGCTCACACACAGAACAG CACCCGCTACACGACCCCATCACCACGAAGCTCACACACAGAACAGCACC CGCTACACTGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCT ACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACAC GGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTCCACGGCC CCATCACCACGAAGCTCACACACAGAACAGCACCCGCTCCACGACCCCAT CACCACGAAGCTCACACACAGAACAGCACCCGCTACACAGCCCCATCACC ACGAAGCTCAG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	328	0.0030	-460	c.171 others(21): Show c.1716-12387_1716-11928del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZNF77_chr19_2928218_2949971	2928477	GATCGGTT others(453): Show GATCGGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAAC CCTGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGTGTACGCCT GTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAAGCCGG CAGGTGGATGTTGCAGTGAGCCAAGATCTCACCAGTGCACTCCAGCCTGG GTGAAGCAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAGAAAATAGA GGCCAAGCACGCTGGCTTATGCCTGTAATTCCAGCACTTTGGGAGGCCAA GGTGGATGGATCCCTTTAGCTCAAGAGTTCGAGACCACCCTGGGCAACAT GGCGAAACCCTGTCTCTTTTTTTTTTTTTTTTTTAATAATTAAAAAGAAG AAGACCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCC GAGCCAGCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(94): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18969.hp2 NA18972.hp1 NA18977.hp1 NA18986.hp1 NA18990.hp1 NA18997.hp2 NA19002.hp1 NA19009.hp1 NA19059.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0010 a0011 a0013	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0014 a0003c0005 a0004c0007 a0010c0011 a0011c0023 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0002c0002t0001 a0002c0002t0006 a0002c0014t0001 a0003c0005t0002 a0003c0005t0005 a0004c0007t0001 a0010c0011t0001 a0011c0023t0001 a0013c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0020 others(86): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0286 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0340 a0001c0001t0001g0380 a0001c0001t0002g0090 a0001c0001t0002g0345 a0001c0001t0005g0042 a0001c0003t0002g0114 a0002c0002t0001g0157 a0002c0002t0001g0196 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0346 a0002c0002t0001g0361 a0002c0002t0001g0367 a0002c0002t0006g0037 a0002c0014t0001g0056 a0003c0005t0002g0060 a0003c0005t0002g0073 a0003c0005t0002g0169 a0003c0005t0002g0296 a0003c0005t0005g0040 a0003c0005t0005g0043 a0003c0005t0005g0044 a0003c0005t0005g0046 a0004c0007t0001g0134 a0004c0007t0001g0173 a0004c0007t0001g0179 a0004c0007t0001g0255 a0004c0007t0001g0256 a0010c0011t0001g0285 a0010c0011t0001g0306 a0011c0023t0001g0077 a0013c0017t0001g0053	97	446	0.2175	-460	c.45 others(11): Show c.4552_*5011del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding		4740		chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144625414	GCCCCTGT others(452): Show GCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGC ATCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGG CAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCG GCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGC GGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGCACACTG CGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACT GCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACAC TGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACA CTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCAC ACTGCGGCAT	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	233	0.0043	-459	c.-81 others(19): Show c.-81-20178_-81-19720del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
CAMK2B_chr7_44212154_44330594	44227027	GGGGGTGT others(452): Show GGGGGTGTGGAAGACAGAGGGGGTGTGGGGGACAGAAGGGGTCATGGGGG ATGGGGGTGCGTGAGGGGACCAAGGTGGATGTGGGGGACAGAGGGAGTGT GGAGGACAGAGGGGGATGTGGGGGACAGAGAGAGGTGCAGGGGACAGAGG AGGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAGGGGGATGTGGGGG ACAGAGGGGAAGTGGAAGACAGAGGGGGTGTGGGGGACAGAAGGCGGTGT GGGGAACAGAGGGGGAGGTGGGGGACAGAGGAGAGTATGGGGGACAGAGG GGGTGTGGGGGACAGAAGGGGGTGTGGAAGACAGGAGGTGTGGGGGACAG ACGGAGTGTGGGGGACAGAGGGAGAGTCTGGGGGACAGAGGGGGTGTGGG GGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGGGGACAGAAGGGGG TATGGGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18998.hp1 NA18612.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0133 a0001c0002t0004g0131 a0001c0002t0001g0133 a0001c0002t0004g0131	2	240	0.0083	-459	c.146 others(17): Show c.1469-842_1469-384del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1402911	AGAGTCGT others(452): Show AGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGAAGAGAG TGTAAAATCGCTGATCACTCCAGGTGGTGAAGGGTGGATGTGAAGTAAGG AGATTAAGGCGACTTACTCGTCGTCCTGCGTAGTGAAGAGATTGTAAAAA GAGGGCTACATCCAAGTCCTCATGCGTGGAGGATGAATTGAGAAGATCCC CCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACTCC TTGTCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG03486.hp1 HG02922.hp2 HG02976.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0019 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019	a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0001t0019g0031 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0001t0019g0031	3	39	0.0769	-459	c.107 others(19): Show c.107-98417_107-97959del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI7_chr12_25103289_25200160	25132485	TAGTGTTG others(452): Show TAGTGTTGTTTGGATACTTTACAATTATTTTAATTTGTGGACTGTTTTTG CTACTATAAAAAACTTCAATGAAAATCTTGGCACAATCATTTTTATTTAT TTTGTTCTATTATTTTCTAATAATAAATTACTATAAGTTAAATCACTAAT CATAGGCATGTTTACATGGTACCAAATAAGGACTGTACAGATTTACACTT CTAATAACGGTATGTGAAGACGCCTGCCTGCTCAATCTGATAGGAAAACA AATGACATCTTTTTTCTAATTTGATTACTTATTTGGTTCAGTACATTTTT GGCTAGTTGTATTTCTTTTCTCAGCTGCCTGCTCATGTCCTTTGCTTAAT TTTATATTAAGAAATTGTCTTCTCACTGATGTGTACAAATTCTTTATATT GGGGTATAACCCCTTGTCATGTACGTTGAAATATTTTTCTTAGTCTGTTA TTTGCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02257.hp1 others(8): Show HG01891.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02896.hp2 HG03225.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 others(8): Show a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0234	11	334	0.0329	-459	c.100 others(19): Show c.1003-9658_1003-9200del	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	9/15			chr12	TogoVar
EIPR1_chr2_3183970_3382818	3315133	TCATCACT others(452): Show TCATCACTAGCATCGCCCCCATGCCTACCATCATCACCACCCCCTACCAC CACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACC ATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATACACA CCCCCTACCACCATCCTCACCACCATCCCCATACACACCCCCTACCACCA CCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACC ATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCC CCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCC CTACCACCAC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	247	0.0040	-459	c.259 others(19): Show c.259+22425_259+22883del	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139292	CGTCCCTC others(452): Show CGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCACG CCAGTGTCCCTCCCGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTC CAGGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCACGCCTC TCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCTAGTGTCCCTCCCG CCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCT CCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGT CCCTCCCGCCTCTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCA GCGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAG GCCAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCT CCAGGTCAGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0145 a0002c0002t0003g0145	1	336	0.0030	-459	c.75+ others(14): Show c.75+583_75+1041del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
HELZ2_chr20_63553086_63579239	63571466	GCTCCAAG others(452): Show GCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCC CTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCCGCTCCAAGCTCCTGGGAGTCTCTGGCTCTGCCTACAGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTACGGTGGGCTC CTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCGCTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02970.hp1 others(2): Show HG02717.hp1 HG02723.hp1 HG02970.hp1 HG03540.hp1 NA19043.hp1	a0004 a0029 a0083 a0004 a0029 a0083	a0004c0004 a0004c0122 a0004c0128 others(2): Show a0004c0004 a0004c0122 a0004c0128 a0029c0034 a0083c0119	a0004c0004t0001 a0004c0122t0075 a0004c0128t0001 others(2): Show a0004c0004t0001 a0004c0122t0075 a0004c0128t0001 a0029c0034t0068 a0083c0119t0008	a0004c0004t0001g0228 a0004c0122t0075g0227 a0004c0128t0001g0229 others(2): Show a0004c0004t0001g0228 a0004c0122t0075g0227 a0004c0128t0001g0229 a0029c0034t0068g0100 a0083c0119t0008g0230	5	386	0.0130	-459	c.278 others(15): Show c.278+183_279-599del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
MYT1_chr20_64159452_64247253	64175874	TCTCCTGT others(452): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCG TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCC CTGGCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp1 NA19240.hp2 HG02280.hp1 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0014 a0001c0002t0006 a0001c0001t0003 a0001c0001t0014 a0001c0002t0006	a0001c0001t0003g0023 a0001c0001t0014g0020 a0001c0002t0006g0022 a0001c0001t0003g0023 a0001c0001t0014g0020 a0001c0002t0006g0022	3	132	0.0227	-459	c.-99 others(19): Show c.-99+11142_-99+11600del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
OTUD7A_chr15_31470398_31875673	31511020	TGTATATC others(452): Show TGTATATCTATATGTAACATACATGTATATCTATATGTAACATACATATA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACACACATATGTATATCTATATGTAACACACA TACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATATATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACACAC ACATATATGTATATCTATATGTAACACACACATATATGTATATCTATATG TAACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0243 a0001c0002t0026g0243	1	236	0.0042	-459	c.894 others(17): Show c.894-7661_894-7203del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PIGN_chr18_62036164_62192056	62039650	TCAGGGTG others(452): Show TCAGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGGGTGCCGCACCCCA TGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCC AGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGAGTGCCGCACCCCATG TTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTAGGGCCCCTTCCAG GGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCAACTCATGTT TAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGG TGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTT AGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGAGT GCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTA GGGCCCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19066.hp1 NA19063.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0128 a0001c0001t0001g0129	2	340	0.0059	-459	c.57 others(11): Show c.5747_*6205del	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1513		chr18	TogoVar
RNF213_chr17_80255852_80403794	80315054	ATGGAGGT others(452): Show ATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGAT GGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGA TGGTGGAGGTAATGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATG GAGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGA CGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTAA TGGAGGTGATGGTGGTGGTGGTGATGGTGGAGGTACTAGAGGTGATGGCG GTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGT GGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGG TGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTG GTGGAGGTAC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0132 a0001c0132	a0001c0132t0012 a0001c0132t0012	a0001c0132t0012g0006 a0001c0132t0012g0006	1	185	0.0054	-459	c.281 others(19): Show c.2811+1903_2812-1660del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMOC2_chr6_168436184_168672992	168593803	GGGCATCT others(452): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGAGGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCT GAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTC CTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0062 a0001c0002t0013g0062	1	177	0.0056	-459	c.638 others(17): Show c.638-5014_638-4556del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
UNC13B_chr9_35157009_35410335	35374051	GCCCTGTG others(452): Show GCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAG CAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACAT GGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGAC TTAACTCTCTGTGCTTGGCAGATACATGGGCCCTGTGCAAGAGTGTGGCT AGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCATATAC ATCGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGA CTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTG GCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGA TACATGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp2 HG02922.hp2 others(4): Show HG01175.hp1 HG02257.hp2 HG02922.hp2 NA18951.hp2 NA18998.hp2 NA19043.hp1 NA20129.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0002 a0006c0008t0002g0008 a0006c0008t0002g0009 others(4): Show a0006c0008t0002g0002 a0006c0008t0002g0008 a0006c0008t0002g0009 a0006c0008t0002g0010 a0006c0008t0002g0011 a0006c0008t0002g0025 a0006c0008t0002g0057	7	222	0.0315	-459	c.954 others(18): Show c.9541-1072_9541-614del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
WRAP73_chr1_3625770_3655103	3643962	CAGCGGCC others(452): Show CAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGAC CCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGA CCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGG ACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGG GACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGG GGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAG GGGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAA GGGGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGA AGGGGATCCAGTGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCAG AAGGGGACCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01167.hp1 others(22): Show HG00741.hp1 HG01109.hp2 HG01167.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02897.hp2 HG02922.hp2 HG03209.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA21309.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0005 a0008c0011 a0001c0001 a0003c0005 a0008c0011	a0001c0001t0001 a0003c0005t0001 a0003c0005t0007 others(1): Show a0001c0001t0001 a0003c0005t0001 a0003c0005t0007 a0008c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0044 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0003c0005t0001g0014 a0003c0005t0001g0021 a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0001g0053 a0003c0005t0007g0139 a0008c0011t0001g0050	25	380	0.0658	-459	c.339 others(17): Show c.339+2245_339+2703del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
ZNF610_chr19_52331243_52372778	52345947	ACCCGCCT others(452): Show ACCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCG GCCAGCTTATTTTATTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCT GGAATGTAGTAGTGTGATCTTGGCTCACTGCAACCTCCGCTTTCTGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCC TGCCACTACACCCGGCTAAAGTTTGTATTTTGTTTTTTTTGTTTTTGGTT TTTTTTGAGATAGAGTCTCTCTCTGTTGCCCAGGCTCAGCTCACTGCAAC GTCTGCCTTCCGGGTTCCAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGC TGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATGTTGGTCAGTCTGGTGTCGAACTCCTGACC TCGTGATCTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02647.hp2 others(5): Show HG01884.hp1 HG02258.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0003 a0001c0001 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0011t0001 a0002c0003t0010	a0001c0001t0001g0125 a0001c0001t0005g0141 a0001c0001t0007g0040 others(4): Show a0001c0001t0001g0125 a0001c0001t0005g0141 a0001c0001t0007g0040 a0001c0011t0001g0126 a0002c0003t0010g0139 a0002c0003t0010g0140 a0002c0003t0010g0142	8	426	0.0188	-459	c.-25 others(19): Show c.-257-1752_-257-1294del	ZNF610	ENSG00000167554.15	transcript	ENST00000403906.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF77_chr19_2928218_2949971	2928297	CCCAGCAC others(452): Show CCCAGCACTTTGGGAGGCCAAGGTGGATGGATCCCTTTAGCTCAAGAGTT CGAGACCACCGTGGGCAACATGGCGAAACCCTGTCTCTTTTTTTTTTTTT TTTTAATAATTAAAAAGAAGAAGACCAGGCATGGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGCCAGCTGGATCGGTTGAGGTCAGGAGT TCGAGACCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAAATAC AAAATTAGCTGGGCATGGTGGTGTACGCCTGTAATCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATCGCTCGAAGCCGGCAGGTGGATGTTGCAGTGAG CCAAGATCTCACCAGTGCACTCCAGCCTGGGTGAAGCAGCAAGACTCCAT CTCAAAAAAAAAAAAAAAAGAGAAAATAGAGGCCAAGCACGCTGGCTTAT GCCTGTAATT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	352	0.0028	-459	c.47 others(11): Show c.4734_*5192del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding		4921		chr19	TogoVar
ZNF77_chr19_2928218_2949971	2928357	GTGGGCAA others(452): Show GTGGGCAACATGGCGAAACCCTGTCTCTTTTTTTTTTTTTTTTTAATAAT TAAAAAGAAGAAGACCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACT TTGGGAGGCCGAGCCAGCTGGATCGGTTGAGGTCAGGAGTTCGAGACCAG CCTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCT GGGCATGGTGGTGTACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTCGAAGCCGGCAGGTGGATGTTGCAGTGAGCCAAGATCTC ACCAGTGCACTCCAGCCTGGGTGAAGCAGCAAGACTCCATCTCAAAAAAA AAAAAAAAAGAGAAAATAGAGGCCAAGCACGCTGGCTTATGCCTGTAATT CCAGCACTTTGGGAGGCCAAGGTGGATGGATCCCTTTAGCTCAAGAGTTC GAGACCACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG03098.hp1 others(1): Show HG01109.hp2 HG02109.hp2 HG03098.hp1 HG03579.hp1	a0001 a0008 a0012 a0001 a0008 a0012	a0001c0001 a0008c0010 a0012c0020 a0001c0001 a0008c0010 a0012c0020	a0001c0001t0001 a0008c0010t0001 a0012c0020t0009 a0001c0001t0001 a0008c0010t0001 a0012c0020t0009	a0001c0001t0001g0072 a0008c0010t0001g0363 a0008c0010t0001g0387 others(1): Show a0001c0001t0001g0072 a0008c0010t0001g0363 a0008c0010t0001g0387 a0012c0020t0009g0388	4	322	0.0124	-459	c.46 others(11): Show c.4673_*5131del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding		4860		chr19	TogoVar
ANKMY2_chr7_16594779_16650754	16643503	GTCCAATG others(451): Show GTCCAATGAAAGCGATGAAAGCATCAGTGCACTCATGCAACTTGATGCAC CGTGTGAGCCCAGAAATATCACAGCACTAACCAGAATAAATGCACATTAA TTCAGGTTTATATAATCTTCAAAATAAATACTGATGGACACCTGAGAATG TATCCAAGGAATCCCTTCTCCCCTCTCAAAGACTCAATTTATAAAACTGC TCACTATTTTTCACTTTTAAGAGATCACATGATGGGCCAGGCCCAGTGGC TCATGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAGGAGGATCACTT GAGCCCAGGAGTTCGAGAGCAGCCTGGGCAACATAGGGAGACCCCCACCA CCCCATCTCTACAAAAAAAAAAAAAAAATCTTTCTAAAGTAGCCGGGCAT GGTGGCTCGCACCTGTAGTCCCAGCCACTAGGGAGGTGGAGGCTGCAGAG AGCTGCAAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02109.hp2 others(3): Show HG01243.hp2 HG02055.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0330 a0001c0003t0004g0044 a0001c0003t0004g0045 others(3): Show a0001c0001t0001g0330 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0215 a0001c0003t0004g0328 a0001c0003t0004g0329	6	400	0.0150	-458	c.67+ others(15): Show c.67+1546_67+2003del	ANKMY2	ENSG00000106524.9	transcript	ENST00000306999.7	protein_coding	1/9			chr7	TogoVar
BZW2_chr7_16641181_16711517	16643503	GTCCAATG others(451): Show GTCCAATGAAAGCGATGAAAGCATCAGTGCACTCATGCAACTTGATGCAC CGTGTGAGCCCAGAAATATCACAGCACTAACCAGAATAAATGCACATTAA TTCAGGTTTATATAATCTTCAAAATAAATACTGATGGACACCTGAGAATG TATCCAAGGAATCCCTTCTCCCCTCTCAAAGACTCAATTTATAAAACTGC TCACTATTTTTCACTTTTAAGAGATCACATGATGGGCCAGGCCCAGTGGC TCATGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAGGAGGATCACTT GAGCCCAGGAGTTCGAGAGCAGCCTGGGCAACATAGGGAGACCCCCACCA CCCCATCTCTACAAAAAAAAAAAAAAAATCTTTCTAAAGTAGCCGGGCAT GGTGGCTCGCACCTGTAGTCCCAGCCACTAGGGAGGTGGAGGCTGCAGAG AGCTGCAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02109.hp2 others(3): Show HG01243.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp1 HG02572.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0002g0149 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0367	6	416	0.0144	-458	c.-27 others(11): Show c.-2792_-2335del	BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding		2677		chr7	TogoVar
CACNG7_chr19_53904278_53948950	53923454	TCATTGGT others(451): Show TCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGC TGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCA GGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCC CCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGT TGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCCTGGTCATTGGTG GAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATT GGTGGAGTTGCCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGT CATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCC TGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCA GGTCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03209.hp2 NA19030.hp1 HG02615.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0004g0346 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0004g0346	3	351	0.0085	-458	c.424 others(17): Show c.424+7950_424+8407del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
DNAAF9_chr20_3244306_3412669	3378826	AATAAAAC others(451): Show AATAAAACTCCATGGGTCTGACCTTTTAAGCCACTCTAAGCCCCATGCCT GTAAGGCCCAGGGTGTTCCAGGGAACACAGGATGTAGCAGCCTCATCACT ATTGACTCTTTAGGTAAGCACAAGAGTCAAAGGGTAGCAAAAGGTGGAAT GGAGGCCCCTCTCATCTCTCAGCATATTGGTCCTTCTCACACACTCCCTC CAAGAGCCCTTCCCTGAGTCATTCGTAGACCACCTGCAGAGGAATGAGAG TTGGCTATTACCTGAAGACTGAGGGCTTCTGGTGTGTATTATACTCTACA GTAAAATGTAACATGCCTCAAAGAATTAGGATCCCGTAAGAGACATAACA TAGTAGTTACTAAACCTAAAGTAAGCATTCCCCAAATCTCTTAGAACTCT GGTGTTATCACTATGAACCAAAGTTTAACAGAGTTTACAGTCAGGTAAAA GAGGAAAGC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp1 HG01074.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0313 a0001c0001t0007g0314 a0001c0001t0007g0313 a0001c0001t0007g0314	2	360	0.0056	-458	c.283 others(17): Show c.283+2095_284-2525del	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	3/36			chr20	TogoVar
DOC2B_chr17_137789_186650	170847	CAGCACCA others(451): Show CAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGC CAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGC ACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCA GGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGC ACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGG CTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCA GGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCT GCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCAC CAGGGGCCGGGCCAGGCTGCAGAGGGCGGCACCAGGGGCCGGGCCAGGTT GCAGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	333	0.0030	-458	c.453 others(17): Show c.453+1232_453+1689del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
EDA_chrX_69611113_70044472	69858636	ATTTTGTT others(451): Show ATTTTGTTGAGGATTTCTGCATCAATGTTCATCAAGGATATTGGCCTAAA GTTTTCTTTTTTTGATGTTATCTCTGTCAGGTTTTGGTATTCAGATGATG CTAGCCTTGTAGAATGAGTTAGGGAGGAATCCCTCCTCATCATTTTTTTG AAATAGTTTCAGTAGGCATGAAACCAACTCTTCTTTGTACATCTCGTAGA AACCAGCTATGAATCTCTCTGGTCCTGGGCTTTTTTTGGTTGGCAGGCTA TTTATTACTGCCTCACTTATGGAGCTTGTTATTGGTCTGTTCAGGGATTC AATTTCTTCCTGGTTCAATCTTGGGAAGGTATGTGTGTCCAAGAATTTAA CCATTTCTTCTAGATTTTCTAGTTTATGTGCATAGAGGTGTTCATAATAT TCTTTGATGATTGTTTGTATTTCTGTGGGGTCAGTGGTAATATTCCCTTT GTCATTTCT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	226	0.0044	-458	c.397 others(19): Show c.397-98384_397-97927del	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRS2_chr12_69465388_69584793	69477436	ACACGCCT others(451): Show ACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCGT GTTAGCCAAGATGGTCTCAATCTCCTGACCTCGTGATCTGCCTGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAA ATACTCTTAACTAAAATTGATGCTCCTAAGAGAGAGTGCAGTGTTCATCC TGCGGCTTTTTATATCCCTATGACATGGCTTTATCACTGGTTAGTAGTAC TGTGCTTAAATATTTAATAGTAGCTTATTTATTTATTTATTTATTTATTT ATTTATTTATTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAG GCTGGAGTGCAGTGGCATGATCCTGGCTCACTGCAAGCTCCGCCTTCTGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGC GCCCACCAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02622.hp2 others(3): Show HG01884.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0004 others(3): Show a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0007	6	340	0.0176	-458	c.-26 others(19): Show c.-261+6913_-261+7370del	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTUD7A_chr15_31470398_31875673	31511195	TATGTATA others(451): Show TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACACATATATG TATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACA CATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	243	0.0041	-458	c.894 others(17): Show c.894-7835_894-7378del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PPP6R2_chr22_50338327_50450090	50344505	GCCCCCTC others(451): Show GCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCC CCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCA GTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGT GCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCTAGTCAGTGCCCCC TCCAGTCAGTTCCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAG TCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAG TTCCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGC CCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCC CCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCT AGTCAGTTT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0049 a0003c0006t0008g0049	1	338	0.0030	-458	c.-14 others(18): Show c.-148+961_-148+1418del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PXMP2_chr12_132682587_132709985	132684595	ACACAGGC others(451): Show ACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCAC ACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGA CTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCAC AGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCAC ACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATATCACACCG TCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGG TTACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAG AGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAG GCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACAATC CCAGTACTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	348	0.0029	-458	c.-30 others(11): Show c.-3075_-2618del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		2991		chr12	TogoVar
SMAD2_chr18_47803957_47935659	47841100	TGGAAAGG others(451): Show TGGAAAGGTTTTCAGTATGGTTTCCTTATAATAAGATTTAGCAGTTAAAA AAAAAAACAAAAAAAAACAAAAAACCACAAAAAGAATGACTGTTTAAGCC CCACTGAACACATTAAGGTCAAGGATTTCAAAAGTTAATCCACTTTTCTT CCCCCAAGAGTTTATTTTTGGTAAAAGGCAGAAAAATTAGTTTTTCTACA GGAAAATCTGCTTCTAAATAATTTGAAAATCTTGATATATATTATATATT AAAAAAGACACACAAAAATAACAGAGAAGTGGGAATAACAGATTAGGTAC TGCAACTTTATAAAGGTTTGCCTAGATCAAGAAGCAGCGCACACACACAC CTCATCTATGCAAACTAAAAATGTATATAAACAGCACAATACTGTGATAC TGGATCATGATACATTACCTGTACACATAACTACTACTGTTATTAATAAA CCTTTGGGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0264 a0001c0001t0038g0264	1	308	0.0032	-458	c.26 others(9): Show c.269_*726del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	269		chr18	TogoVar
TRIML1_chr4_188134441_188152743	188152285	GGTGAGAA others(451): Show GGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTT GAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTTG AGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGA AGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGAGGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	226	0.0044	-458	c.49 others(11): Show c.4914_*5371del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4543		chr4	TogoVar
ZNF554_chr19_2814868_2841735	2826337	GGGACTAC others(451): Show GGGACTACAGGTACGTGCCACCACGATTGGCTGATTTTTGTATTTGTAGT AGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCT TGTGATTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGCG TCACAGTGCCCAGCCAACTTTTACATCTTACAGCAGATACCAGCTTACGT GCTGTTTTATACCATGGATTACCTGGATAGCCATTCAGGCCCTAAACACT CATCAGCCCCTTCATATGTTGAAACAACAAAGCTTTTGCCATATTTCAGT GGGTCAAGGTTGTTGTAGCAGATTCCTCTTTTTTTTTTTTTTTGAGATGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCA CTGCAAACTCCACCTCCTGGGTTCATGCCATTCTCATGCCTCAGCCTCCC GAGTAGCTA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0002 a0014c0022t0002	a0014c0022t0002g0164 a0014c0022t0002g0164	1	408	0.0025	-458	c.127 others(16): Show c.127-1269_127-812del	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AHRR_chr5_316714_443285	391635	GGGCGCAG others(450): Show GGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAG GGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGG CGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGC GCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCG CAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAG GCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGG AGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGA GGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGG GCGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02004.hp2 HG02109.hp2 others(1): Show HG00140.hp1 HG02004.hp2 HG02109.hp2 HG02818.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0006c0006 a0001c0001 a0003c0004 a0006c0006	a0001c0001t0007 a0001c0001t0029 a0003c0004t0004 others(1): Show a0001c0001t0007 a0001c0001t0029 a0003c0004t0004 a0006c0006t0021	a0001c0001t0007g0219 a0001c0001t0029g0012 a0003c0004t0004g0187 others(1): Show a0001c0001t0007g0219 a0001c0001t0029g0012 a0003c0004t0004g0187 a0006c0006t0021g0246	4	264	0.0152	-457	c.351 others(19): Show c.351+14929_351+15385del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP92_chr3_128904873_128999076	128954915	TGGGGGTG others(450): Show TGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGCGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGCGA GGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00673.hp1 others(31): Show HG00099.hp1 HG00140.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01516.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp2 HG02735.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18957.hp2 NA18980.hp2 NA18983.hp2 NA18992.hp2 NA18999.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19057.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0019 a0001c0001 a0014c0019	a0001c0001t0001 a0014c0019t0001 a0001c0001t0001 a0014c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0014c0019t0001g0019	34	326	0.1043	-457	c.135 others(19): Show c.1354-9397_1354-8941del	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CSMD1_chr8_2930361_4999914	4137358	ATGCAAAC others(450): Show ATGCAAACTTCTTATGCTAAATAGATTAATGAAGAACAGAAAACAAAAGT TATCGCTTGTGTTTAATAATGAAATTAAATATATTGTCAAAATAGAGAGT ATTTTAAAAGGTAATTTTCACTACAGAATATAACATTGTTTTTCCTTTTA AAAATATTATGGTAGTGTTTAATATTCCATTTGTATTATGTTTTCTTTGA TGGTTACAAGATTTGATGTTAATGGAACTGGTTGGTTTGTAAGATACAAA AAAGACAACTGTTAATTGATCACATTTTTATAAGCAGTTTCAATATAAAT TCATACTGAAAGTAACTTCTTATATAGCTGTAAGACAAGAGATCACATCG ATAAAGATACTGTATTTCACGATGTTGTATTTTATATAAAATTACACTTT CCTAAATTTCTCAAGGAAAATCTAAGCCTTATAATCCAAATTAATTTTCC CCTTACAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01074.hp2 others(17): Show HG00735.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01255.hp2 HG01934.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp1 HG02683.hp2 HG03017.hp1 HG03098.hp1 HG03669.hp1 HG04228.hp2 NA18971.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA19060.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0013 a0017	a0001c0002 a0001c0003 a0001c0006 others(15): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0047 a0001c0049 a0001c0059 a0001c0061 a0001c0073 a0002c0012 a0002c0037 a0002c0075 a0002c0077 a0003c0056 a0003c0086 a0004c0057 a0013c0018 a0017c0101	a0001c0002t0026 a0001c0002t0061 a0001c0003t0008 others(17): Show a0001c0002t0026 a0001c0002t0061 a0001c0003t0008 a0001c0003t0019 a0001c0006t0002 a0001c0007t0001 a0001c0047t0012 a0001c0049t0002 a0001c0059t0001 a0001c0061t0001 a0001c0073t0006 a0002c0012t0016 a0002c0037t0009 a0002c0075t0028 a0002c0077t0001 a0003c0056t0062 a0003c0086t0002 a0004c0057t0080 a0013c0018t0058 a0017c0101t0008	a0001c0002t0026g0005 a0001c0002t0061g0069 a0001c0003t0008g0053 others(17): Show a0001c0002t0026g0005 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0006t0002g0109 a0001c0007t0001g0035 a0001c0047t0012g0024 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0073t0006g0108 a0002c0012t0016g0088 a0002c0037t0009g0046 a0002c0075t0028g0051 a0002c0077t0001g0016 a0003c0056t0062g0072 a0003c0086t0002g0118 a0004c0057t0080g0075 a0013c0018t0058g0068 a0017c0101t0008g0023	20	126	0.1587	-457	c.416 others(21): Show c.416-105716_416-105260del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DLGAP1_chr18_3491032_4460307	3997014	TAAGTTGC others(450): Show TAAGTTGCAGAGTTTTCTTTTTTTTTTTTTTCATATTTTAAAATAAGCTT TATTTAGATTTTTTTTTAATATTTTATATTTGCATCCATGCCTTCGAGAA ACCTTTCCCACGGGAAAGGTTATTTTCGTCTAATGTTACCCATAACTCAT TCGCTATTTGACGTAGTTCTCTTAAATAAATCATCCTTTAGTAACTCTTA GAATTATCTCCTAATTTACAAAAACTGAAATGAAAAGGAACTACTAAATC ATTAGCAGGAGTGGTTGCAATCTTATTTTCTTGTAAGTAAAGGGAAAATG ATAAAAATCAACCAGAAAAGAAATTCATGGGCAAGAAAAGTATTTTCTAA AATCTGTCTCCGTAGAGAAAGATGCCAGCTTGGGTCGCTCCCCCTCACCC CTAGGCTCGGTTAAACAGTTTGGTCAAAGGAGGACAGAAAAGTCCTTATG AGGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(42): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00639.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp1 HG01433.hp2 HG01981.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0002c0007 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0027 a0001c0001t0037 a0001c0001t0042 a0001c0002t0001 a0001c0002t0030 a0001c0002t0031 a0001c0002t0040 a0001c0003t0002 a0001c0003t0019 a0001c0003t0021 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0002 a0001c0004t0014 a0001c0004t0032 a0001c0004t0036 a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0006t0005 a0001c0006t0013 a0001c0008t0025 a0002c0007t0016 a0003c0010t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 others(42): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0002g0008 a0001c0001t0002g0047 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0004g0016 a0001c0001t0004g0019 a0001c0001t0004g0026 a0001c0001t0006g0002 a0001c0001t0007g0028 a0001c0001t0008g0045 a0001c0001t0013g0060 a0001c0001t0018g0046 a0001c0001t0020g0033 a0001c0001t0022g0043 a0001c0001t0027g0024 a0001c0001t0037g0063 a0001c0001t0042g0080 a0001c0002t0001g0039 a0001c0002t0030g0014 a0001c0002t0031g0061 a0001c0002t0040g0055 a0001c0003t0002g0009 a0001c0003t0019g0006 a0001c0003t0021g0027 a0001c0003t0023g0015 a0001c0003t0033g0077 a0001c0004t0001g0011 a0001c0004t0002g0025 a0001c0004t0002g0035 a0001c0004t0014g0058 a0001c0004t0032g0065 a0001c0004t0036g0070 a0001c0005t0001g0052 a0001c0005t0005g0038 a0001c0005t0006g0030 a0001c0006t0005g0007 a0001c0006t0013g0073 a0001c0008t0025g0049 a0002c0007t0016g0066 a0003c0010t0003g0057	45	80	0.5625	-457	c.-73 others(17): Show c.-73+7645_-73+8101del	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	3/12			chr18	TogoVar

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