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
VIPR2_chr7_159023175_159149867	159132886	TTGATTTC others(114): Show TTGATTTCAGACAGAATGATTGGCATACAGATTGATTTCAGACAGAATGA TTGGCATACAGATTGATTTCAGACAGAATGATTGGCATACCGATTGATTT TAGACAGAATGATTGGCATACA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04184.hp1 HG00741.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0056 a0001c0001t0001g0064	2	336	0.0060	-121	c.151 others(17): Show c.151+9439_151+9559del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
WDR70_chr5_37374318_37758435	37413554	CTACTAAA others(114): Show CTACTAAAAATAGAAAAATTACCTGGGCATGGTGGCGTGTGCCTGTGATC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTTTGAACCAGGGAGGC GGAGGTTGCAGTGAGCCGAGAT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	242	0.0041	-121	c.492 others(19): Show c.492+16985_492+17105del	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	5/17			chr5	TogoVar
WDR87_chr19_37879823_37911594	37880987	ATAATATA others(114): Show ATAATATATATATATTATATATATTATATAATATATATAATATATATATA TAATATATATAATATATATAATATATATATAATATATATATATTATATAT ATAATATATATTATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	330	0.0030	-121	c.38 others(11): Show c.3824_*3944del	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3835		chr19	TogoVar
WFDC3_chr20_45769213_45796883	45773799	GTTCCACC others(114): Show GTTCCACCCTCAACCCACATTCTCCAATAAAAGAAAGAAGGTCAGCAGGT CTAAAAGAGACTGACCTCCACCCCCACCAGGGCTTGAGAAAGACATCTAT GGCAAGTCACTCTCAGTTTAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 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.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0009 a0002c0002 others(5): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0005c0005 a0006c0006 a0007c0008 a0008c0007	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(251): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0003g0017 a0001c0001t0003g0201 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0272 a0001c0001t0003g0282 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0363 a0001c0009t0001g0190 a0002c0002t0001g0099 a0002c0002t0001g0136 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0045 a0004c0004t0001g0046 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0337 a0005c0005t0001g0338 a0006c0006t0001g0026 a0006c0006t0001g0362 a0007c0008t0001g0343 a0008c0007t0001g0286	285	410	0.6951	-121	c.50 others(9): Show c.508_*628del	WFDC3	ENSG00000124116.19	transcript	ENST00000243938.9	protein_coding		413		chr20	TogoVar
WFS1_chr4_6264850_6308265	6299562	GTGGGTTG others(114): Show GTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGG TAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTG TAGGGGTGGGTTGTTTGCGGGT	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0026 a0002c0040t0026	a0002c0040t0026g0248 a0002c0040t0026g0248	1	390	0.0026	-121	c.862 others(16): Show c.862-1094_862-974del	WFS1	ENSG00000109501.15	transcript	ENST00000226760.5	protein_coding	7/7			chr4	TogoVar
ZNF329_chr19_58121248_58155789	58122711	GTGGAGTG others(114): Show GTGGAGTGGGGAGTGCTACACACTTTTAAACAACCAGGTCTCATGAAAAC TCACTCACTATCATGAAAACAGCAAAAGGGGAAATCCACCCCCATGATAC AATCACCTCCCACCAGGTCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	422	0.0024	-121	c.50 others(11): Show c.5046_*5166del	ZNF329	ENSG00000181894.15	transcript	ENST00000598312.6	protein_coding		3536		chr19	TogoVar
ZNF785_chr16_30575656_30590697	30590165	ACCACTGT others(114): Show ACCACTGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCTGGTGGATCACCTGAGGTTTTCCAGTATGGTTCATCGGT TCCATAGATCCCCTGTAATTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	318	0.0031	-121	c.-46 others(11): Show c.-4675_-4555del	ZNF785	ENSG00000197162.10	transcript	ENST00000395216.3	protein_coding		4469		chr16	TogoVar
ZNF835_chr19_56656980_56676757	56669628	AGGAGTCC others(114): Show AGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTC CATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATA AATGTACTTGGGGGTCTACCAG	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0144 a0011c0015t0001g0144	1	450	0.0022	-121	c.-48 others(17): Show c.-48+1827_-48+1947del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1			chr19	TogoVar
ABCG1_chr21_42214140_42302244	42283833	AAAGTCCC others(113): Show AAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0170 a0001c0005t0008g0170	1	354	0.0028	-120	c.735 others(15): Show c.735-716_735-597del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283861	CCCCCCCA others(113): Show CCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGA TGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCC CCCCGCCCAGATGAGTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	354	0.0028	-120	c.735 others(15): Show c.735-692_735-573del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283897	TCCCCCCG others(113): Show TCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGAC AGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGT CCCGCCTGGACAGTTGCGAAG	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18973.hp1 NA18980.hp1 others(2): Show NA18956.hp2 NA18973.hp1 NA18980.hp1 NA18983.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0166 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0133 a0001c0001t0001g0166 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0216	5	354	0.0141	-120	c.735 others(15): Show c.735-662_735-543del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14			chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283898	CCCCCCGC others(113): Show CCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACA GTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTC CCGCCTGGACAGTTGCGAAGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	354	0.0028	-120	c.735 others(15): Show c.735-656_735-537del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42284080	CCCCCCGC others(113): Show CCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACA GTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTC CCGCCTGGACAGTTGCAAAGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	354	0.0028	-120	c.735 others(15): Show c.735-474_735-355del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADAM9_chr8_38991973_39110261	39045058	GTGCATAC others(113): Show GTGCATACATACATATGTGTGTGTGCATACATACATATGTGTGTGTGCAT ACATACATATGTGTGTGTGCATACATACATATATGTGTATATATGTGTAT ACATACATATATGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18974.hp2 HG03492.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0287 a0001c0001t0001g0186 a0001c0001t0001g0287	2	332	0.0060	-120	c.130 others(19): Show c.1302+2944_1302+3063del	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS2_chr5_179105853_179350461	179277417	GCGAGACC others(113): Show GCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCCCC CGAGACCAAAGGCTGACCCCCCACCCGAGACCAAAGGCTGACACCCCCCA GAGACCAAAGGCTGACCCCCC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0060 a0003c0060	a0003c0060t0001 a0003c0060t0001	a0003c0060t0001g0002 a0003c0060t0001g0002	1	276	0.0036	-120	c.535 others(17): Show c.535-4473_535-4354del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAP1_chr7_892900_959680	917182	GGGGGGGC others(113): Show GGGGGGGCGCAGTGCCAGCTCTACCGGGGAGGTGCACGGGAGGGGGGCGC AGTGCCAGCTCTACCGGGGAGTTGCACGGGAGGGGGGCGCAGTGCCAGCT CTACCGGGGAGGTGCACGGGA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	14	0.0714	-120	c.388 others(17): Show c.388+2666_388+2785del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADAP1_chr7_892900_959680	933491	GGCCGGGG others(113): Show GGCCGGGGTCAGTGGTGCTGGAGAGCCGGGGGCCGGGGGCCGGGGTCAGT GGTGCTGGAGAGCCGGGGGCCGGGGTCAGTGGTGGTGCAGAGCCGGGGAC CGGGGTCAGTGGTGCTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp2 homoSapiens_chm13v2.hp1 HG01346.hp1 HG01346.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0003g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0003g0003	3	14	0.2143	-120	c.213 others(17): Show c.213+1764_213+1883del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	2/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1237496	GCCTCCCG others(113): Show GCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCT CCCGGTGTTTACTCCCATCTC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0029 a0002c0004t0005g0029	1	106	0.0094	-120	c.136 others(19): Show c.1362-3771_1362-3652del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237605	TACTCCCA others(113): Show TACTCCCATCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19011.hp1 HG02258.hp2 NA19011.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0016 a0002c0002 a0009c0016	a0002c0002t0005 a0009c0016t0014 a0002c0002t0005 a0009c0016t0014	a0002c0002t0005g0028 a0009c0016t0014g0008 a0002c0002t0005g0028 a0009c0016t0014g0008	2	106	0.0189	-120	c.136 others(19): Show c.1362-3880_1362-3761del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237616	CCCTCCCG others(113): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTCACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0040 a0001c0001t0049g0040	1	106	0.0094	-120	c.136 others(19): Show c.1362-3891_1362-3772del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239460	GCCTCCCG others(113): Show GCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCT CCCGGTGTTTACTCCCCCCTC	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	106	0.0094	-120	c.136 others(19): Show c.1361+2551_1361+2670del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239567	TTTACTCC others(113): Show TTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	106	0.0094	-120	c.136 others(19): Show c.1361+2444_1361+2563del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239601	TCTGCCTC others(113): Show TCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	106	0.0094	-120	c.136 others(19): Show c.1361+2410_1361+2529del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239649	TCTCCCTC others(113): Show TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTG CCTCCCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0020 a0002c0004t0028g0020	1	106	0.0094	-120	c.136 others(19): Show c.1361+2362_1361+2481del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239809	TACTCCCC others(113): Show TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACT CCCCTCTCCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0041 a0001c0007t0033g0041	1	106	0.0094	-120	c.136 others(19): Show c.1361+2202_1361+2321del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGRD1_chr12_130948907_131146469	130995343	TCCTTATT others(113): Show TCCTTATTGGCTGTCTGGTTTGCAACACAAGGCAATGCAGGTCTACACAG GAAACACTTTCTTTTTAAGCTTGGTCACTTTTACTTTCCTTGCTGCTTTT CTTCCTTCTCTCCCTCAGCTA	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	242	0.0041	-120	c.966 others(17): Show c.966+2952_966+3071del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	8/24			chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131067664	ATATGTCT others(113): Show ATATGTCTGATCGCTGTGCCCCTGATCCTTCTTCTGAGCAGGGGCTGCCC TCTGCCTCCTGTATTTCTGATCGCTGTGCCCCTGATCCTTCTTCTGAGCA GGGGCTGCCCTCTACCTTCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00735.hp1 others(104): Show HG00140.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18970.hp2 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18992.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0022 a0001c0023 a0001c0025 a0001c0044 a0001c0047 a0001c0048 a0002c0012 a0002c0033 a0002c0034 a0002c0042 a0002c0043 a0005c0011 a0005c0021 a0006c0037 a0007c0039 a0008c0026 a0009c0041 a0012c0049 a0014c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0023 a0001c0001t0027 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0010 a0001c0003t0004 a0001c0003t0006 a0001c0003t0012 a0001c0003t0018 a0001c0003t0019 a0001c0003t0035 a0001c0003t0045 a0001c0004t0002 a0001c0004t0005 a0001c0004t0009 a0001c0004t0015 a0001c0004t0024 a0001c0004t0043 a0001c0005t0003 a0001c0005t0008 a0001c0005t0014 a0001c0007t0004 a0001c0008t0001 a0001c0008t0003 a0001c0009t0004 a0001c0009t0014 a0001c0010t0007 a0001c0010t0039 a0001c0022t0016 a0001c0023t0004 a0001c0025t0021 a0001c0044t0007 a0001c0047t0002 a0001c0048t0017 a0002c0012t0017 a0002c0033t0038 a0002c0034t0030 a0002c0042t0022 a0002c0043t0004 a0005c0011t0002 a0005c0021t0021 a0006c0037t0047 a0007c0039t0042 a0008c0026t0013 a0009c0041t0001 a0012c0049t0002 a0014c0040t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0111 others(104): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0130 a0001c0001t0002g0149 a0001c0001t0002g0161 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0005g0055 a0001c0001t0009g0137 a0001c0001t0009g0140 a0001c0001t0009g0144 a0001c0001t0011g0033 a0001c0001t0011g0066 a0001c0001t0011g0074 a0001c0001t0015g0097 a0001c0001t0023g0143 a0001c0001t0027g0118 a0001c0002t0001g0125 a0001c0002t0001g0169 a0001c0002t0001g0195 a0001c0002t0003g0071 a0001c0002t0003g0083 a0001c0002t0008g0016 a0001c0002t0010g0138 a0001c0002t0010g0201 a0001c0003t0004g0013 a0001c0003t0004g0101 a0001c0003t0004g0104 a0001c0003t0004g0108 a0001c0003t0004g0121 a0001c0003t0004g0122 a0001c0003t0004g0188 a0001c0003t0004g0189 a0001c0003t0004g0190 a0001c0003t0004g0192 a0001c0003t0004g0234 a0001c0003t0004g0237 a0001c0003t0006g0015 a0001c0003t0006g0019 a0001c0003t0006g0058 a0001c0003t0006g0092 a0001c0003t0006g0185 a0001c0003t0006g0211 a0001c0003t0006g0215 a0001c0003t0012g0025 a0001c0003t0012g0027 a0001c0003t0012g0063 a0001c0003t0012g0088 a0001c0003t0018g0117 a0001c0003t0019g0218 a0001c0003t0035g0200 a0001c0003t0045g0042 a0001c0004t0002g0011 a0001c0004t0002g0114 a0001c0004t0002g0155 a0001c0004t0002g0164 a0001c0004t0002g0193 a0001c0004t0005g0036 a0001c0004t0005g0082 a0001c0004t0009g0168 a0001c0004t0015g0093 a0001c0004t0015g0099 a0001c0004t0024g0133 a0001c0004t0043g0024 a0001c0005t0003g0056 a0001c0005t0008g0226 a0001c0005t0014g0049 a0001c0007t0004g0018 a0001c0008t0001g0183 a0001c0008t0003g0059 a0001c0008t0003g0067 a0001c0009t0004g0103 a0001c0009t0014g0037 a0001c0009t0014g0078 a0001c0010t0007g0160 a0001c0010t0039g0031 a0001c0022t0016g0109 a0001c0023t0004g0165 a0001c0025t0021g0119 a0001c0044t0007g0176 a0001c0047t0002g0091 a0001c0048t0017g0221 a0002c0012t0017g0017 a0002c0012t0017g0158 a0002c0033t0038g0090 a0002c0034t0030g0231 a0002c0042t0022g0096 a0002c0043t0004g0178 a0005c0011t0002g0110 a0005c0021t0021g0048 a0006c0037t0047g0219 a0007c0039t0042g0046 a0008c0026t0013g0238 a0009c0041t0001g0229 a0012c0049t0002g0131 a0014c0040t0002g0162	107	242	0.4422	-120	c.147 others(19): Show c.1474-9073_1474-8954del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRL3_chr4_61195326_62083335	61456362	GATATAGA others(113): Show GATATAGATATATCTATATATATATATAGATATATCTATATCTATATATA TATAGATATATCTATATCTATATATATAGATATATCTATATCTATATATA TAGATATATCTATATCTATAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0027 a0001c0002t0026g0027	1	58	0.0172	-120	c.-17 others(21): Show c.-173-40740_-173-40621del	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AGO2_chr8_140515156_140640633	140622258	CCACATGG others(113): Show CCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTG GGGGAATAATGCACATGGGGTCTCCTCTCGGGGGAATAATGCACATGGGG TCTCCTCTCGGGGGAATAATG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0184 a0001c0005t0019g0184	1	338	0.0030	-120	c.22+ others(17): Show c.22+13107_22+13226del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140622618	CCACATGG others(113): Show CCACATGGGGTCTCCTCTTGGGGGAATAATCCACATGGGGTCTCCTCTTG GGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGG TCTCCTCTTGGGGGAATAATG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0185 a0001c0001t0085g0185	1	338	0.0030	-120	c.22+ others(17): Show c.22+12747_22+12866del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140623091	GAATAATG others(113): Show GAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCT CCTCTTGGGGGAATAATCCACATGGGGTCTCCTCTTGGGGGAATAATGCA CATGGGGTCTCCTCTTGGGGT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0184 a0001c0005t0019g0184	1	338	0.0030	-120	c.22+ others(17): Show c.22+12274_22+12393del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140623098	GCACATGG others(113): Show GCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTG GGGGAATAATCCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGG TCTCCTCTTGGGGTAATAATC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp2 HG02647.hp1 others(2): Show HG01109.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0070 a0001c0004t0062 a0001c0007t0035 others(2): Show a0001c0001t0070 a0001c0004t0062 a0001c0007t0035 a0001c0007t0073 a0001c0007t0074	a0001c0001t0070g0188 a0001c0004t0062g0290 a0001c0007t0035g0187 others(2): Show a0001c0001t0070g0188 a0001c0004t0062g0290 a0001c0007t0035g0187 a0001c0007t0073g0189 a0001c0007t0074g0190	5	338	0.0148	-120	c.22+ others(17): Show c.22+12267_22+12386del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AK8_chr9_132720578_132883284	132821769	GTATATGT others(113): Show GTATATGTGTATGTATATACAAATATATACATATATGTGTATGTATATAC AAATATATACATATATGTGTATGTATATACAAATATATACATATATGTGT ATGTATATACAAATATATACA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01255.hp2 HG01257.hp1 others(12): Show HG01167.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp1 HG03486.hp2 HG03492.hp2 HG03688.hp2 HG04199.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(12): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0012t0001g0169	15	266	0.0564	-120	c.889 others(17): Show c.889+1316_889+1435del	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ALDH1A3_chr15_100874831_100921626	100887290	CTCAAAAG others(113): Show CTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAA CTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGAT GACACCGAAACTGCAGTCACT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0063 a0001c0001t0030g0063	1	414	0.0024	-120	c.205 others(14): Show c.205-200_205-81del	ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANGPT1_chr8_107244482_107502918	107361510	CTATAGAA others(113): Show CTATAGAATATATGTATATATTATATATCAATATAGAATATATGTATATA TTATATATCAATATAGAATATATGTATATATTATATATCAATATAGAATA TATGTATATATTATATATCAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp1 others(109): Show HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18952.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18968.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18990.hp1 NA18991.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0002c0002t0016	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(109): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0002g0003 a0001c0001t0002g0034 a0001c0001t0002g0082 a0001c0001t0002g0095 a0001c0001t0002g0121 a0001c0001t0002g0149 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0190 a0001c0001t0002g0231 a0001c0001t0002g0242 a0001c0001t0003g0200 a0001c0001t0003g0259 a0001c0001t0003g0264 a0001c0001t0004g0228 a0001c0001t0005g0067 a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0249 a0001c0001t0005g0253 a0001c0001t0005g0266 a0001c0001t0006g0268 a0001c0001t0007g0250 a0001c0001t0007g0256 a0001c0001t0008g0011 a0001c0001t0008g0101 a0001c0001t0008g0104 a0001c0001t0008g0144 a0001c0001t0008g0275 a0001c0001t0009g0102 a0001c0001t0009g0274 a0001c0001t0009g0280 a0001c0001t0009g0281 a0001c0001t0014g0160 a0001c0001t0016g0062 a0001c0001t0017g0002 a0001c0001t0018g0251 a0001c0001t0024g0037 a0001c0001t0025g0008 a0002c0002t0016g0278	112	292	0.3836	-120	c.298 others(19): Show c.298-14533_298-14414del	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANXA2_chr15_60342151_60402986	60366820	GCCAGCCG others(113): Show GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGACCCCTCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG02895.hp2 others(4): Show HG00639.hp2 HG00741.hp1 HG02895.hp2 HG02965.hp2 HG03453.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0050 others(4): Show a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0202 a0001c0001t0001g0288	7	334	0.0210	-120	c.149 others(17): Show c.149-2417_149-2298del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2128585	GCCCCCGC others(113): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTG CACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0183 a0001c0014t0007g0183	1	406	0.0025	-120	c.806 others(15): Show c.806+385_806+504del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128783	GCCCCCGC others(113): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18973.hp2 NA19002.hp2 others(1): Show HG03017.hp1 NA18973.hp2 NA19002.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0175 others(1): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0175 a0001c0001t0003g0356	4	406	0.0099	-120	c.806 others(15): Show c.806+187_806+306del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128830	AGCTCCGA others(113): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG03453.hp1 HG00642.hp1 HG01070.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0002 a0001c0003t0002 a0001c0005t0002	a0001c0003t0002g0188 a0001c0005t0002g0019 a0001c0005t0002g0029 a0001c0003t0002g0188 a0001c0005t0002g0019 a0001c0005t0002g0029	3	406	0.0074	-120	c.806 others(15): Show c.806+140_806+259del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144602905	GTGTGTGT others(113): Show GTGTGTGTGTGCGTGGAGGCGTGTGTGTGCTCGTGTACCTGTGTGTGTGC ATGGAGGCGTGCGTGCGAGCTCGTGTACCTGTGTGCATGTGCGTGGAGGT GTGTGTGCGAGCTCATGTATC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02809.hp2 others(11): Show HG02055.hp2 HG02572.hp1 HG02809.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0001c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0016t0007 a0001c0019t0001	a0001c0001t0001g0024 a0001c0001t0001g0151 a0001c0001t0004g0150 others(11): Show a0001c0001t0001g0024 a0001c0001t0001g0151 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0004g0237 a0001c0001t0007g0239 a0001c0002t0001g0025 a0001c0016t0007g0240 a0001c0019t0001g0064	14	246	0.0569	-120	c.80+ others(15): Show c.80+2510_80+2629del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	2/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144620226	TGTGTGTG others(113): Show TGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02258.hp1 others(12): Show HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp1 NA18947.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0001c0007t0003 a0001c0016t0007	a0001c0001t0001g0043 a0001c0001t0003g0063 a0001c0001t0003g0071 others(12): Show a0001c0001t0001g0043 a0001c0001t0003g0063 a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0004g0237 a0001c0001t0007g0239 a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0166 a0001c0001t0016g0105 a0001c0001t0018g0022 a0001c0002t0001g0083 a0001c0007t0003g0078 a0001c0016t0007g0240	15	246	0.0610	-120	c.-81 others(19): Show c.-81-14651_-81-14532del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144620388	TGTGTGCC others(113): Show TGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCG TGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAG CCTGTGTGTCCAAGGGAGCAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0002 a0004c0015t0002	a0004c0015t0002g0195 a0004c0015t0002g0195	1	246	0.0041	-120	c.-81 others(19): Show c.-81-14813_-81-14694del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1889375	ATGTGAGG others(113): Show ATGTGAGGAGACAGTGATGTGAGGCATCTGTGAGGAGACACTGAGTGGGG TGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGA CACTGAGTGGGGTGAGGGGTC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp2 HG02886.hp2 HG01496.hp2 HG01884.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0097 a0001c0146 a0001c0004 a0001c0097 a0001c0146	a0001c0004t0048 a0001c0097t0011 a0001c0146t0062 a0001c0004t0048 a0001c0097t0011 a0001c0146t0062	a0001c0004t0048g0104 a0001c0097t0011g0344 a0001c0146t0062g0339 a0001c0004t0048g0104 a0001c0097t0011g0344 a0001c0146t0062g0339	3	363	0.0083	-120	c.118 others(19): Show c.1182+3681_1182+3800del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3475052	AGCGCTGA others(113): Show AGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCCCA GGCCTTTCACGGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATT ATCCATCCCAGGCCTTTCACG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02647.hp2 HG02809.hp1 others(7): Show HG01934.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp2 HG03139.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0047 a0003c0006 a0002c0002 a0002c0047 a0003c0006	a0002c0002t0002 a0002c0047t0002 a0003c0006t0002 others(1): Show a0002c0002t0002 a0002c0047t0002 a0003c0006t0002 a0003c0006t0015	a0002c0002t0002g0054 a0002c0047t0002g0301 a0003c0006t0002g0001 others(4): Show a0002c0002t0002g0054 a0002c0047t0002g0301 a0003c0006t0002g0001 a0003c0006t0002g0062 a0003c0006t0002g0063 a0003c0006t0002g0065 a0003c0006t0015g0064	10	334	0.0299	-120	c.138 others(17): Show c.1380+510_1381-559del	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3475352	GGCGCTGA others(113): Show GGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCCCA GGCCTTTCACAGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATT ATCCATCCCAGGCCTTTCACA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18980.hp2 NA18995.hp1 HG02027.hp2 NA18980.hp2 NA18995.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0007 a0003c0004t0002g0082 a0003c0004t0002g0007 a0003c0004t0002g0082	3	334	0.0090	-120	c.138 others(17): Show c.1381-328_1381-209del	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ASIC2_chr17_33008087_33298295	33269631	CTTCCTTC others(113): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TCCCTCCTGCCTGCCTGCCTGCCTGCCTGCCTTTCCTCCCTTCCTCCCTC CCTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0154 a0001c0004t0008g0154	1	240	0.0042	-120	c.708 others(19): Show c.708+21657_708+21776del	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970514	TCCTCCCC others(113): Show TCCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCGGCGTGGCCGCGAC CTCCGCACCCGGCGTGGCCGCGACCTCCGCACCCGGCGTGGCCGCGACCT CCCCACCCGGCGTGGCCGCGA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01069.hp2 others(20): Show HG00621.hp2 HG00639.hp1 HG01069.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02080.hp2 HG02148.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02630.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 NA18959.hp2 NA18964.hp2 NA19010.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0014 a0004c0017 a0004c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0027 a0001c0002t0019 a0001c0006t0011 a0001c0006t0018 a0001c0011t0011 a0001c0011t0012 a0001c0014t0018 a0004c0017t0002 a0004c0019t0004	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(20): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0010g0185 a0001c0001t0019g0181 a0001c0001t0027g0184 a0001c0002t0019g0115 a0001c0006t0011g0018 a0001c0006t0018g0015 a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0001c0014t0018g0049 a0004c0017t0002g0136 a0004c0017t0002g0137 a0004c0019t0004g0193	23	266	0.0865	-120	c.460 others(17): Show c.460-4888_460-4769del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970526	AGCGTGGC others(113): Show AGCGTGGCCGCGACCTCCGCACCCGGCGTGGCCGCGACCTCCGCACCCGG CGTGGCCGCGACCTCCGCACCCGGCGTGGCCGCGACCTCCCCACCCGGCG TGGCCGCGACCTCCGCACCCG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02809.hp2 HG02976.hp2 HG01074.hp1 HG02809.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0021 a0003c0025 a0001c0001 a0003c0021 a0003c0025	a0001c0001t0001 a0003c0021t0035 a0003c0025t0011 a0001c0001t0001 a0003c0021t0035 a0003c0025t0011	a0001c0001t0001g0051 a0003c0021t0035g0187 a0003c0025t0011g0054 a0001c0001t0001g0051 a0003c0021t0035g0187 a0003c0025t0011g0054	3	266	0.0113	-120	c.460 others(17): Show c.460-4900_460-4781del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970528	CGTGGCCG others(113): Show CGTGGCCGCGACCTCCGCACCCGGCGTGGCCGCGACCTCCGCACCCGGCG TGGCCGCGACCTCCGCACCCGGCGTGGCCGCGACCTCCCCACCCGGCGTG GCCGCGACCTCCGCACCCGGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	266	0.0038	-120	c.460 others(17): Show c.460-4902_460-4783del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	499435	AGAACAGT others(113): Show AGAACAGTCCTAGCCCGTGGAGCCCGTGCTCTCACTATCTAGAACACTCC TAGCCCGTGGAGCCCGTGCTCTCACTATCTACTAGCCCGTGGAGCCCGTG CTCTCACTATCTAGAACACTC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp1 HG02258.hp1 others(12): Show HG01167.hp1 HG01496.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp2 NA20129.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0011 a0012	a0001c0001 a0003c0004 a0003c0048 others(5): Show a0001c0001 a0003c0004 a0003c0048 a0004c0005 a0005c0006 a0005c0024 a0011c0015 a0012c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0022 a0001c0001t0087 a0003c0004t0002 a0003c0048t0007 a0004c0005t0002 a0004c0005t0017 a0005c0006t0002 a0005c0006t0063 a0005c0024t0002 a0011c0015t0013 a0012c0021t0010	a0001c0001t0001g0194 a0001c0001t0004g0298 a0001c0001t0017g0199 others(12): Show a0001c0001t0001g0194 a0001c0001t0004g0298 a0001c0001t0017g0199 a0001c0001t0022g0036 a0001c0001t0022g0037 a0001c0001t0087g0190 a0003c0004t0002g0197 a0003c0048t0007g0235 a0004c0005t0002g0202 a0004c0005t0017g0184 a0005c0006t0002g0195 a0005c0006t0063g0183 a0005c0024t0002g0193 a0011c0015t0013g0280 a0012c0021t0010g0192	15	394	0.0381	-120	c.170 others(19): Show c.170-35730_170-35611del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19			chr12	TogoVar

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