Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
RSPH10B2_chr7_6749103_6803765	6764118	CGTGGAGG others(104): Show CGTGGAGGGCAGGTGGGGCAGGAGTGAAGGGGGTGGGCGGACATGGGGGG GGCAGCCATGAGGGGGCAAGGTCGGGGGGGTCGGGGGGGCAGAAAGGGGG TGGGGTGGCCAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0041 a0002c0011t0001g0041	1	108	0.0093	-111	c.573 others(14): Show c.573+30_573+140del	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SAMD11_chr1_918923_949574	934540	GGGGGAGG others(104): Show GGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0024 a0001c0002t0016g0024	2	418	0.0048	-111	c.843 others(17): Show c.843-1227_843-1117del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934791	CAGGGGAG others(104): Show CAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA21309.hp1 HG02717.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0049 a0002c0003 a0002c0049	a0002c0003t0004 a0002c0049t0004 a0002c0003t0004 a0002c0049t0004	a0002c0003t0004g0222 a0002c0049t0004g0221 a0002c0003t0004g0222 a0002c0049t0004g0221	2	426	0.0047	-111	c.843 others(15): Show c.843-980_843-870del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SARDH_chr9_133658560_133743352	133668882	CCCTCACC others(104): Show CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCC CTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCT CACCCTCCATCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19240.hp2 NA19043.hp1 NA19240.hp2	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0142 a0003c0032t0001g0155 a0003c0032t0001g0142 a0003c0032t0001g0155	2	260	0.0077	-111	c.249 others(19): Show c.2495+1591_2495+1701del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1148589	CCCTCCTT others(104): Show CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02647.hp2 HG03471.hp2 HG02056.hp1 HG02647.hp2 HG03471.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0006 a0003c0017 a0004c0012 a0001c0006 a0003c0017 a0004c0012	a0001c0006t0001 a0003c0017t0001 a0004c0012t0002 a0001c0006t0001 a0003c0017t0001 a0004c0012t0002	a0001c0006t0001g0013 a0003c0017t0001g0087 a0004c0012t0002g0180 a0001c0006t0001g0013 a0003c0017t0001g0087 a0004c0012t0002g0180	3	201	0.0149	-111	c.167 others(15): Show c.167+669_167+779del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148700	TCCTCCTT others(104): Show TCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCAC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03017.hp1 HG02683.hp1 HG03017.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0095 a0001c0013t0001g0183 a0001c0013t0001g0095 a0001c0013t0001g0183	2	66	0.0303	-111	c.167 others(15): Show c.167+558_167+668del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SFMBT1_chr3_52898572_53051073	53035148	GAGTGCTT others(104): Show GAGTGCTTCAAGGATTCCGCATGCCTTCCTGAGGAGTTTGGACTTTACCC GGCCAAATGTGGGATTTTATGTGACTAAAATCAAGTTTGTTTAGAAAGCT CTACTTGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00597.hp1 others(161): Show HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0003c0009 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0002 a0001c0003t0001 a0001c0008t0001 a0003c0009t0001 a0005c0006t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(161): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0289 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0221 a0001c0001t0002g0242 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0309 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0005g0171 a0001c0001t0007g0170 a0001c0001t0008g0303 a0001c0001t0010g0328 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0003t0001g0187 a0001c0003t0001g0189 a0001c0003t0001g0197 a0001c0003t0001g0203 a0001c0003t0001g0224 a0001c0008t0001g0240 a0003c0009t0001g0205 a0005c0006t0001g0208	164	325	0.5046	-111	c.-13 others(21): Show c.-131+10557_-131+10667del	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFTPD_chr10_79932740_79954105	79949412	GCAGGTTG others(104): Show GCAGGTTGCACAATGACCTACAGCGATTGCAAAAGGAACTCACAACTGCA GATCTTAAGAGCCAAGACCTGCTGTGTCCACTTCTCCTCTTCCTTTGTCT CAACAGCACTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0007 a0004c0004t0001g0007	1	422	0.0024	-111	c.-46 others(9): Show c.-461_-351del	SFTPD	ENSG00000133661.17	transcript	ENST00000372292.8	protein_coding		308		chr10	TogoVar
SH3GL2_chr9_17574066_17802124	17764830	CAATCAGT others(104): Show CAATCAGTAAGATTTGATGCTTCAAGGGTACTTTGGGAGTACATCTGTAT TAGATTACTGCTCCCGGGTGCTTGCTGGCTTTCACGTCTTGGGTACATGG ACAGGCCAGGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(124): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp1 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0003t0002 a0001c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(124): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0233 a0001c0001t0003g0076 a0001c0001t0003g0155 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0217 a0001c0001t0009g0009 a0001c0001t0009g0181 a0001c0001t0014g0041 a0001c0001t0015g0122 a0001c0001t0017g0111 a0001c0001t0019g0220 a0001c0003t0002g0010 a0001c0003t0002g0039 a0001c0006t0001g0153	127	258	0.4922	-111	c.187 others(17): Show c.187+3330_187+3440del	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17764853	AAGGGTAC others(104): Show AAGGGTACTTTGGGAGTACATCTGTATTAGATTACTGCTCCCGGGTGCTT GCTGGCTTTCACGTCTTGGGTACATGGACAGGCCAGGGGAATCAGTAGGA TTTGATGCTTCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02622.hp2 others(10): Show HG02258.hp1 HG02572.hp2 HG02622.hp2 HG02723.hp1 HG02965.hp1 HG03017.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0157 others(10): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0157 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0252 a0001c0001t0006g0221 a0001c0001t0007g0097 a0001c0001t0007g0143 a0001c0001t0007g0165 a0001c0001t0007g0173	13	189	0.0688	-111	c.187 others(17): Show c.187+3406_187+3516del	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17764941	GAATCAGT others(104): Show GAATCAGTAGGATTTGATGCTTCGAGGGTACTTTGGGAGTACATCTGTAT TAGATTACTGCTCCCGGGTGCTTGCTGGCTTTCACATCTTGGGTACATGG ACAGGCCAGGGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0005 a0001c0001t0010 a0001c0002t0005	a0001c0001t0010g0219 a0001c0002t0005g0226 a0001c0001t0010g0219 a0001c0002t0005g0226	2	220	0.0091	-111	c.187 others(17): Show c.187+3637_187+3747del	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17765227	CGGGTGCT others(104): Show CGGGTGCTTGCTGGCTTTCACATCTTGGGTTCATGGACAGGCCAGGGGAA TCAGTAGGATTTGATGCTTCGAGGGTACTTTGGGAGTACATCTGTATTAG ATTACTGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	258	0.0039	-111	c.187 others(17): Show c.187+3739_187+3849del	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC12A7_chr5_1045384_1117063	1070617	GAGCCCCC others(104): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCA TCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	118	0.0085	-111	c.224 others(19): Show c.2241+2905_2241+3015del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A3_chr17_82224042_82245086	82224347	TGTGCAGA others(104): Show TGTGCAGACACACCCCTACACCCGTGCAGTCACCTGTGCAGACACACCCC TACACCCGTGCAGACACACCCCTACACCTTGCAGTCACCTGTGCAGACAC ACCCCTACACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0096 a0001c0001t0011g0096	1	387	0.0026	-111	c.-47 others(11): Show c.-4785_-4675del	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		4694		chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22396421	GGAGAGAG others(104): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02559.hp2 HG03098.hp1 others(1): Show HG00323.hp2 HG02559.hp2 HG03098.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0005 others(1): Show a0001c0003 a0001c0004 a0001c0005 a0002c0006	a0001c0003t0005 a0001c0004t0002 a0001c0005t0003 others(1): Show a0001c0003t0005 a0001c0004t0002 a0001c0005t0003 a0002c0006t0017	a0001c0003t0005g0236 a0001c0004t0002g0268 a0001c0005t0003g0191 others(1): Show a0001c0003t0005g0236 a0001c0004t0002g0268 a0001c0005t0003g0191 a0002c0006t0017g0161	4	311	0.0129	-111	c.-15 others(17): Show c.-15-8273_-15-8163del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A8_chr4_102256666_102350482	102283529	TCTGAGGA others(104): Show TCTGAGGATTGCTAACACTTCACACACAATTAAAATAATACTTCCAATTG TTGAGGAGAAAAAAAACACCATCCTAGAGCTTTCAAATCCACTACATATA ATCTACTGTTTA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02109.hp2 HG02698.hp2 others(5): Show HG01952.hp2 HG02109.hp2 HG02698.hp2 HG02735.hp2 NA19062.hp1 NA19064.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0010 a0001c0001t0001 a0001c0002t0001 a0001c0004t0010	a0001c0001t0001g0042 a0001c0001t0001g0095 a0001c0001t0001g0148 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0095 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0166 a0001c0001t0001g0192 a0001c0002t0001g0129 a0001c0004t0010g0077	8	264	0.0303	-111	c.841 others(19): Show c.841-15561_841-15451del	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	6/8			chr4	TogoVar
SLC6A18_chr5_1220381_1251189	1238338	CTGGGGCC others(104): Show CTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGG AAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGT TTGGAGTGAGCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02809.hp2 NA18967.hp2 HG01496.hp1 HG02809.hp2 NA18967.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0002 a0006c0008 a0008c0015 a0001c0002 a0006c0008 a0008c0015	a0001c0002t0002 a0006c0008t0004 a0008c0015t0004 a0001c0002t0002 a0006c0008t0004 a0008c0015t0004	a0001c0002t0002g0159 a0006c0008t0004g0176 a0008c0015t0004g0228 a0001c0002t0002g0159 a0006c0008t0004g0176 a0008c0015t0004g0228	3	436	0.0069	-111	c.732 others(15): Show c.732+319_732+429del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNTG2_chr2_945849_1372613	1013143	TGGGCAGA others(104): Show TGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAG AGGGATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0001 a0006c0028t0001	a0006c0028t0001g0127 a0006c0028t0001g0127	1	153	0.0065	-111	c.72+ others(17): Show c.72+62172_72+62282del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013365	TGGGCAGA others(104): Show TGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAG AGGGATTTATAA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0032 a0007c0016t0001g0032	1	186	0.0054	-111	c.72+ others(17): Show c.72+62320_72+62430del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014132	AGGATCTA others(104): Show AGGATCTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGG GCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGG TGGTCTGTAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00642.hp1 others(61): Show HG00140.hp1 HG00323.hp1 HG00642.hp1 HG00642.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01975.hp2 HG02015.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18943.hp1 NA18990.hp1 NA18990.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0015 a0016	a0001c0001 a0001c0002 a0002c0003 others(20): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0022 a0003c0007 a0003c0026 a0004c0004 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0007c0016 a0007c0017 a0007c0024 a0008c0011 a0009c0012 a0010c0013 a0010c0029 a0013c0018 a0015c0025 a0016c0023	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0003c0007t0001 a0003c0007t0002 a0003c0026t0001 a0004c0004t0001 a0004c0014t0001 a0004c0014t0002 a0005c0006t0001 a0005c0006t0002 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0008c0011t0001 a0009c0012t0001 a0010c0013t0001 a0010c0029t0001 a0013c0018t0001 a0015c0025t0001 a0016c0023t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(61): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0003g0128 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0092 a0001c0002t0001g0118 a0001c0002t0002g0002 a0002c0003t0001g0023 a0002c0003t0001g0029 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0185 a0002c0005t0001g0013 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0022t0001g0155 a0003c0007t0001g0007 a0003c0007t0001g0019 a0003c0007t0001g0068 a0003c0007t0001g0116 a0003c0007t0001g0184 a0003c0007t0002g0077 a0003c0026t0001g0097 a0004c0004t0001g0047 a0004c0004t0001g0112 a0004c0004t0001g0149 a0004c0014t0001g0036 a0004c0014t0002g0001 a0005c0006t0001g0020 a0005c0006t0001g0079 a0005c0006t0002g0003 a0005c0015t0001g0037 a0005c0015t0001g0153 a0006c0009t0001g0028 a0006c0009t0001g0048 a0006c0009t0001g0093 a0006c0010t0001g0010 a0007c0016t0001g0032 a0007c0016t0001g0143 a0007c0017t0001g0106 a0007c0017t0001g0125 a0007c0024t0002g0073 a0008c0011t0001g0004 a0009c0012t0001g0066 a0009c0012t0001g0091 a0010c0013t0001g0140 a0010c0029t0001g0152 a0013c0018t0001g0045 a0013c0018t0001g0046 a0015c0025t0001g0034 a0016c0023t0001g0049	64	138	0.4638	-111	c.72+ others(17): Show c.72+63069_72+63179del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS6_chr18_70284045_70335199	70306402	GAACCTGG others(104): Show GAACCTGGGAGGCGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTC CAGCCTGGTGACAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGA AAGAAAGCCAAA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	356	0.0028	-111	c.-12 others(21): Show c.-127+17316_-127+17426del	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr18	TogoVar
SORCS2_chr4_7187538_7747827	7676838	CACCCCAG others(104): Show CACCCCAGCCCTGTCATCTCCTCCTTCCTCTCCCTCTCTGTGTCTGAAGT TGGCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCT CCCTCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0011 a0001c0001t0013g0011	1	168	0.0060	-111	c.134 others(17): Show c.1341+610_1341+720del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26			chr4	TogoVar
SOX11_chr2_5687384_5706385	5706169	ACTGGGGT others(104): Show ACTGGGGTAGAGGAACAGGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGG GTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGA GGAGCAGGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0167 a0001c0001t0167	a0001c0001t0167g0000 a0001c0001t0167g0000	1	408	0.0025	-111	c.12 others(13): Show c.12123_*12233del	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4785		chr2	TogoVar
SSH2_chr17_29620938_29935228	29895638	ATATTTTA others(104): Show ATATTTTATATACACATTTTATATATGAAATATATAAAATATATTTTATA TACACATTTTATATATGAAATATATAAAATATATTTTATATACACATTTC ATATATAAAATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0086 a0001c0001t0013g0086	1	222	0.0045	-111	c.63+ others(17): Show c.63+34189_63+34299del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
ST3GAL3_chr1_43702536_43936159	43905286	TCCTTCTG others(104): Show TCCTTCTGCTCCTCTTCCTGCCACTTTTCCTCCCCCTCCTCCTGTTCCCC TTCCCACCACTCTTCCCCCTCCTCCTTCTGTTCCTCTTCCCACCACTCTT CCTCCCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	272	0.0037	-111	c.744 others(17): Show c.744+5597_744+5707del	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
STON1_chr2_48525154_48603513	48564491	TCTTCTTC others(104): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTC CTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18945.hp1 NA18948.hp2 others(2): Show HG03471.hp1 NA18945.hp1 NA18948.hp2 NA19058.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0005t0003	a0002c0002t0001g0138 a0002c0002t0002g0143 a0002c0002t0002g0214 others(2): Show a0002c0002t0001g0138 a0002c0002t0002g0143 a0002c0002t0002g0214 a0002c0002t0009g0161 a0002c0005t0003g0150	5	361	0.0139	-111	c.-47 others(19): Show c.-47-16090_-47-15980del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564497	TCTTCTTC others(104): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTC CTCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG03669.hp2 HG00438.hp1 HG00735.hp2 HG03669.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0020 a0002c0002 a0003c0020	a0002c0002t0001 a0002c0002t0002 a0003c0020t0027 a0002c0002t0001 a0002c0002t0002 a0003c0020t0027	a0002c0002t0001g0202 a0002c0002t0002g0198 a0003c0020t0027g0008 a0002c0002t0001g0202 a0002c0002t0002g0198 a0003c0020t0027g0008	3	359	0.0084	-111	c.-47 others(19): Show c.-47-16084_-47-15974del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
TBC1D22A_chr22_46757650_47180693	47162668	GGTGCAGG others(104): Show GGTGCAGGGAGAGTCGTGGGAATGGGACTGCGGACCCGGTGCAGGGAGAG TCGTGGGAATGGGACTGCGGACCCGGTGCAGGGAGAGTCGGGGGAGTGGG ACTGCGGACCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01496.hp2 others(29): Show HG00280.hp1 HG00639.hp2 HG01496.hp2 HG01515.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0002t0001 a0002c0003t0008 a0003c0005t0001	a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0055 others(29): Show a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0008g0043 a0001c0001t0008g0048 a0001c0001t0009g0004 a0001c0001t0009g0013 a0001c0001t0009g0025 a0001c0001t0010g0023 a0001c0001t0017g0109 a0001c0001t0018g0038 a0001c0001t0021g0103 a0001c0002t0001g0011 a0002c0003t0008g0034 a0003c0005t0001g0066	32	112	0.2857	-111	c.142 others(21): Show c.1426-10814_1426-10704del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273350	CCGCCATC others(104): Show CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCTGTGACCGAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	382	0.0026	-111	c.228 others(19): Show c.2287-1181_2287-1071del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TFEB_chr6_41678978_41740608	41738157	CATATATA others(104): Show CATATATATGCATATATATATACATATATATATGCATATATATATGCATA TATATATGCATATATATATGCATATATATATGTATATATATATGCATATA TATATATGCACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	205	0.0049	-111	c.-29 others(11): Show c.-2941_-2831del	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2550		chr6	TogoVar
TMC4_chr19_54155108_54178160	54172168	CCCTCCTC others(104): Show CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCA GACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCGGCT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19030.hp1 HG03710.hp1 NA19030.hp1	a0013 a0017 a0013 a0017	a0013c0022 a0017c0018 a0013c0022 a0017c0018	a0013c0022t0004 a0017c0018t0001 a0013c0022t0004 a0017c0018t0001	a0013c0022t0004g0235 a0017c0018t0001g0024 a0013c0022t0004g0235 a0017c0018t0001g0024	2	187	0.0107	-111	c.80- others(12): Show c.80-196_80-86del	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding	1/14			chr19	TogoVar
TMC4_chr19_54155108_54178160	54174622	GTCCCTCC others(104): Show GTCCCTCCTCCCTCAGACCCAGGAGACCAGACCCCACCTCCCTCCTCCCT CAGATCCAGGAGTCCAGACCCCACTTCCCTCCTCCCTCAGATCCAGGAGA CCAGACCCCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01928.hp2 others(13): Show HG00438.hp1 HG00673.hp2 HG01928.hp2 HG02129.hp1 NA18612.hp2 NA18944.hp2 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18975.hp2 NA18980.hp1 NA19009.hp1 NA19054.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp1	a0005 a0005	a0005c0006 a0005c0020 a0005c0006 a0005c0020	a0005c0006t0002 a0005c0020t0002 a0005c0006t0002 a0005c0020t0002	a0005c0006t0002g0017 a0005c0006t0002g0018 a0005c0006t0002g0019 others(10): Show a0005c0006t0002g0017 a0005c0006t0002g0018 a0005c0006t0002g0019 a0005c0006t0002g0373 a0005c0006t0002g0374 a0005c0006t0002g0375 a0005c0006t0002g0376 a0005c0006t0002g0377 a0005c0006t0002g0378 a0005c0006t0002g0379 a0005c0006t0002g0380 a0005c0006t0002g0382 a0005c0020t0002g0381	16	406	0.0394	-111	c.-16 others(11): Show c.-1616_-1506del	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding		1463		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113532784	TAAGTCGC others(104): Show TAAGTCGCAGACGTGGGCCCTGCAGCGAGCTCTGAAGGACGCTGCCTCCC TCCTGAAGTCGCAGACGTGGGCCCTGCAGCGAGCTCTGAAGGACGCTGCC TCCCTCCTACTG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03831.hp1 HG02015.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0131 a0001c0001t0001g0145	2	365	0.0055	-111	c.134 others(19): Show c.1344-1153_1344-1043del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132C_chr12_128262170_128712911	128657992	AACAAGGC others(104): Show AACAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCCACAAGGCAGGAG CAGGGACGCAGCTCCCATGGAGGCCTCAAGGCAGGAGCAGGGACGCAGCT CCCATGGAGGCC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp2 HG01891.hp1 HG02922.hp2	a0004 a0007 a0004 a0007	a0004c0008 a0007c0028 a0004c0008 a0007c0028	a0004c0008t0003 a0007c0028t0001 a0004c0008t0003 a0007c0028t0001	a0004c0008t0003g0010 a0007c0028t0001g0140 a0004c0008t0003g0010 a0007c0028t0001g0140	2	166	0.0120	-111	c.130 others(21): Show c.1306-11350_1306-11240del	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113811500	AATAGCCC others(104): Show AATAGCCCTGGGTCTGCGGGGGGCCCTGTGTGAGTGGCCCTAGGTCTGAG GGGGCCTGTGTGAATAGCCCTGGGTCTGCGGGGGGCCCATGTGAATGGCC CTGAGTCTGCGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0023 a0001c0001t0030g0024 a0001c0001t0030g0023 a0001c0001t0030g0024	2	258	0.0078	-111	c.814 others(15): Show c.814-235_814-125del	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	8/8			chr13	TogoVar
TOP1MT_chr8_143304324_143339880	143307954	GCGTGGCA others(104): Show GCGTGGCAGAGAAGAGGGCGGCAGAGGAGAGGGCGGCAGAGGAGAGGGCG GCAGAGGGTCCCGCATGGCAGAGGATCCCACGTGGCAGAGAAGAGGGCAG CAGAGGATCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02129.hp2 HG02273.hp1 others(10): Show HG01106.hp2 HG02129.hp2 HG02273.hp1 HG03017.hp2 HG04115.hp1 NA18940.hp2 NA18956.hp2 NA18971.hp1 NA19007.hp1 NA19054.hp1 NA19074.hp2 NA19085.hp1 NA20752.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0018c0030 a0001c0001 a0018c0030	a0001c0001t0001 a0018c0030t0001 a0001c0001t0001 a0018c0030t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 others(10): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0174 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0275 a0018c0030t0001g0242	13	309	0.0421	-111	c.13 others(11): Show c.1376_*1486del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		1369		chr8	TogoVar
TPO_chr2_1408463_1548673	1530743	CCCCCACT others(104): Show CCCCCACTGTGTGCAACCTCCTCAAATCCCCCCATGGGGGGCAACGTCCT CAAATCCCCCGACTGTGTGCAACCTCCTGAAATCCCTTCACTGCGTGCAA CCTCCCCAAATA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19058.hp2 HG03209.hp1 NA19058.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0003c0003t0004 a0002c0002t0003 a0003c0003t0004	a0002c0002t0003g0011 a0003c0003t0004g0034 a0002c0002t0003g0011 a0003c0003t0004g0034	2	127	0.0157	-111	c.261 others(19): Show c.2619-9846_2619-9736del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1530770	CCCCCCAT others(104): Show CCCCCCATGGGGGGCAACGTCCTCAAATCCCCCGACTGTGTGCAACCTCC TGAAATCCCTTCACTGCGTGCAACCTCCCCAAATACCCCCACTGTGTGCA ACCTCCGCAAAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03654.hp2 HG04204.hp1 others(7): Show HG02080.hp2 HG03654.hp2 HG04204.hp1 HG04204.hp2 NA18985.hp1 NA19010.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0020	a0001c0004 a0002c0015 a0003c0003 others(2): Show a0001c0004 a0002c0015 a0003c0003 a0003c0006 a0020c0024	a0001c0004t0001 a0002c0015t0004 a0003c0003t0004 others(4): Show a0001c0004t0001 a0002c0015t0004 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0020c0024t0005	a0001c0004t0001g0113 a0002c0015t0004g0112 a0003c0003t0004g0012 others(6): Show a0001c0004t0001g0113 a0002c0015t0004g0112 a0003c0003t0004g0012 a0003c0003t0004g0050 a0003c0003t0005g0001 a0003c0006t0004g0097 a0003c0006t0004g0103 a0003c0006t0011g0090 a0020c0024t0005g0009	10	121	0.0826	-111	c.261 others(19): Show c.2619-9818_2619-9708del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(104): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0051 a0006c0015t0051	a0006c0015t0051g0037 a0006c0015t0051g0037	1	49	0.0204	-111	c.188 others(17): Show c.1884+775_1884+885del	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TUBGCP5_chr15_22994177_23044569	23041010	CCACCTGG others(104): Show CCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAG AGGTGCTGGGGGGGATTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGG ACATCATAACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00621.hp1 others(34): Show HG00408.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG02040.hp1 HG02723.hp1 HG03492.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18959.hp2 NA18963.hp2 NA18969.hp2 NA18974.hp2 NA18979.hp1 NA18982.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA19005.hp1 NA19043.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0021 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0155 a0001c0001t0001g0185 a0001c0001t0001g0247 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0029 a0001c0002t0002g0032 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0252 a0001c0002t0002g0253	37	350	0.1057	-111	c.-15 others(11): Show c.-1578_-1468del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		1442		chr15	TogoVar
URI1_chr19_29937239_30021612	29999708	CCTTATCA others(104): Show CCTTATCAAGCAATGTGTATGCTCTTGAGTATCTCCAATAAGGCATTTCA AAATACAAATTTATGATTTTAGTTTATGATAGATGTATATAGCTTTAAAT AACCACAAACCA	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0277 a0002c0002t0002g0277	1	326	0.0031	-111	c.368 others(17): Show c.368-5652_368-5542del	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	4/10			chr19	TogoVar
USP49_chr6_41784896_41900375	41865805	TTTTTTTT others(104): Show TTTTTTTTTTTTTTTTTCCCCCAGAGACTGGGTCTAACTATGTTGCCCAG GCTGGTCTAGAACTCCTGACCTCAAGCAATCCTCCCACCTCAGCCTTCCA AAGCATGGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp1 HG03041.hp1 others(2): Show HG02109.hp1 HG02818.hp1 HG03041.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 others(2): Show a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0337	5	382	0.0131	-111	c.-29 others(17): Show c.-29+5648_-29+5758del	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	3/7			chr6	TogoVar
WDR87_chr19_37879823_37911594	37880999	TATTATAT others(104): Show TATTATATATATTATATAATATATATAATATATATATATAATATATATAA TATATATAATATATATATAATATATATATATTATATATATAATATATATT ATATATATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 NA18966.hp1 HG03492.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0003 a0002c0002t0002g0023 a0002c0002t0001g0003 a0002c0002t0002g0023	2	328	0.0061	-111	c.38 others(11): Show c.3822_*3932del	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3823		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881009	ATTATATA others(104): Show ATTATATAATATATATAATATATATATATAATATATATAATATATATAAT ATATATATAATATATATATATTATATATATAATATATATTATATATATAT TATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(50): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00735.hp1 HG01081.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02273.hp2 HG02293.hp1 HG02723.hp2 HG02896.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp1 NA18951.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18968.hp1 NA18973.hp2 NA18982.hp1 NA18987.hp2 NA18988.hp1 NA19001.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19081.hp2 NA19088.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0002 a0019 a0021 others(1): Show a0002 a0019 a0021 a0041	a0002c0002 a0002c0016 a0019c0031 others(2): Show a0002c0002 a0002c0016 a0019c0031 a0021c0035 a0041c0034	a0002c0002t0001 a0002c0002t0002 a0002c0016t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0016t0001 a0019c0031t0001 a0021c0035t0001 a0041c0034t0001	a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0035 others(29): Show a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0035 a0002c0002t0001g0088 a0002c0002t0001g0098 a0002c0002t0001g0124 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0180 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0002g0023 a0002c0016t0001g0031 a0019c0031t0001g0181 a0021c0035t0001g0134 a0041c0034t0001g0133	53	274	0.1934	-111	c.38 others(11): Show c.3812_*3922del	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3813		chr19	TogoVar
WRAP73_chr1_3625770_3655103	3640489	GAGGCTCT others(104): Show GAGGCTCTGAGCATCAGCAGGGCGGGGTGCAGCGCCCGAGGCTCTGAGCA TCAGCAGGGCGGGGTGCAGCGCCCGAGGCTCTGAGCATCAGCAGGGCAGG GTGGAACGCCCC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG03486.hp1 HG02615.hp1 HG02809.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0059 a0001c0003t0001g0023 a0001c0003t0001g0059	3	380	0.0079	-111	c.340 others(17): Show c.340-1778_340-1668del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
WRAP73_chr1_3625770_3655103	3640518	CAGCGCCC others(104): Show CAGCGCCCGAGGCTCTGAGCATCAGCAGGGCGGGGTGCAGCGCCCGAGGC TCTGAGCATCAGCAGGGCAGGGTGGAACGCCCCAGGCTCTGAGCGTCAGC AGGGCGGGGTGG	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	380	0.0026	-111	c.340 others(17): Show c.340-1807_340-1697del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
XIRP2_chr2_166883480_167264753	167214115	AAGGAAGG others(104): Show AAGGAAGGAAGGAAGGAAGGAAGCAAAGAGAAAGAGAAAGAAGGAAAGAA AGAGAAAGAAGGAAGGAAGGAAGGAAAGAGAGAGAGAAAGAGAGGGAGGG AGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01496.hp1 others(6): Show HG01081.hp2 HG01106.hp2 HG01496.hp1 HG02451.hp2 HG02602.hp2 HG02896.hp2 HG06807.hp2 NA18984.hp2 NA20905.hp1	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0002 a0007c0008 a0008c0009 a0002c0002 a0007c0008 a0008c0009	a0002c0002t0002 a0002c0002t0005 a0007c0008t0007 others(1): Show a0002c0002t0002 a0002c0002t0005 a0007c0008t0007 a0008c0009t0002	a0002c0002t0002g0067 a0002c0002t0002g0099 a0002c0002t0005g0016 others(6): Show a0002c0002t0002g0067 a0002c0002t0002g0099 a0002c0002t0005g0016 a0002c0002t0005g0044 a0002c0002t0005g0113 a0002c0002t0005g0153 a0007c0008t0007g0059 a0007c0008t0007g0060 a0008c0009t0002g0172	9	190	0.0474	-111	c.723 others(17): Show c.723+3243_723+3353del	XIRP2	ENSG00000163092.22	transcript	ENST00000409195.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
XPNPEP3_chr22_40852148_40937815	40876556	TAGTGAAT others(104): Show TAGTGAATTGCTAAGCCAGGATTCCAACTCACAAAAACCTAACTCAGAAT CCACACTTTCAACCACAAAACAGTGCATAATACCTATGCCAAACATAATA CCTGTGTCACTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	246	0.0041	-111	c.182 others(17): Show c.182-5139_182-5029del	XPNPEP3	ENSG00000196236.13	transcript	ENST00000357137.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
ZFAND2A_chr7_1147907_1165196	1156100	AAAGGGGT others(104): Show AAAGGGGTGGACCGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGA AGGGGTGGACTGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAG CTGGGGGCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	346	0.0029	-111	c.151 others(15): Show c.151-627_151-517del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
AARSD1_chr17_42945526_42969454	42967324	TAATATAT others(103): Show TAATATATAAAATATATATTATATAATATATAATATAATATATAAAATAT ATATTATATAATATATAATATAATATATAATATATAAATATATATGTATT TATATATGTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	320	0.0031	-110	c.-29 others(11): Show c.-2994_-2885del	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2871		chr17	TogoVar

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