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
RNF148_chr7_122696668_122707922	122706286	AATATATA others(51): Show AATATATATATGCTTATATATTCAAGGAATATATATATATGCTTATATAT TCAAGGAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01069.hp2 others(7): Show HG00280.hp1 HG00738.hp1 HG01069.hp2 HG01106.hp1 HG01243.hp2 HG01943.hp1 HG02559.hp1 HG03130.hp2 HG03195.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	10	432	0.0232	-58	c.-35 others(69): Show c.-3594_-3537delATTCCTTGAATATATAAGCATATATATATATTCC TTGAATATATAAGCATATATATAT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3365		chr7	TogoVar
RNF223_chr1_1065967_1079306	1076440	CTGAGGCT others(51): Show CTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGGCTATGGTGACTCCGT GCAGGGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01069.hp1 others(2): Show HG00140.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0003t0003 a0002c0002t0003 a0002c0003t0003	a0002c0002t0003g0009 a0002c0003t0003g0010 a0002c0002t0003g0009 a0002c0003t0003g0010	5	324	0.0154	-58	c.-24 others(69): Show c.-2492_-2435delCAGCCCTGCACGGAGTCACCATAGCCTCAGCCTG CCCCACGGAGTCCCCATAGCCTCA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2135		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077273	GGAGGCTG others(51): Show GGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGA CTCTGTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	324	0.0031	-58	c.-33 others(69): Show c.-3325_-3268delGGCACAGAGTCCCCATAGACTCAGCCTCCCGGCA CGGAGTCCCCATAGACTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2968		chr1	TogoVar
RNF38_chr9_36331400_36405269	36341809	TATATATA others(51): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(150): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19075.hp2 NA19077.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(147): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0188 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0382 a0001c0001t0002g0349 a0001c0001t0003g0145 a0001c0001t0003g0288 a0001c0001t0008g0351 a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0001t0016g0318 a0001c0001t0019g0216 a0001c0001t0024g0313	153	402	0.3806	-58	c.148 others(75): Show c.1485+458_1485+515delTTATATATATATATATATATATATATAT ATATATATATATATATATATATATATATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNF38_chr9_36331400_36405269	36397013	GTGTGTGT others(51): Show GTGTGTGTGTGTGTATATACGTATATACGTATATACACATGTATATATAC GTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0383 a0001c0001t0001g0383	1	402	0.0025	-58	c.12+ others(73): Show c.12+3026_12+3083delTATATATACGTATATATACATGTGTATATA CGTATATACGTATATACACACACACACA	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	1/11			chr9	TogoVar
RORA_chr15_60483284_61234302	60816102	GTATTTAT others(51): Show GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0038 a0001c0001t0012g0025 a0001c0001t0009g0038 a0001c0001t0012g0025	2	118	0.0170	-58	c.167 others(79): Show c.167-137474_167-137417delTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPRD2_chr1_150359147_150481566	150367355	TACTCTGA others(51): Show TACTCTGAGTTTGGTTTCTAAGTCAGCTTTAGGAAAAATTGTGAAGCAGG TATCTTTGG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG00733.hp1 others(66): Show HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG02015.hp2 HG02056.hp1 HG02129.hp1 HG02559.hp1 HG02683.hp1 HG02738.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18939.hp1 NA18944.hp1 NA18953.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19010.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19079.hp2 NA19086.hp1 NA19091.hp2 NA20905.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0010	a0001c0001 a0001c0011 a0001c0013 others(4): Show a0001c0001 a0001c0011 a0001c0013 a0004c0006 a0005c0007 a0009c0010 a0010c0015	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0011t0025 a0001c0013t0004 a0004c0006t0002 a0004c0006t0043 a0004c0006t0048 a0005c0007t0004 a0009c0010t0042 a0010c0015t0002	a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0239 others(65): Show a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0303 a0001c0001t0004g0002 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0267 a0001c0001t0004g0270 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0299 a0001c0001t0016g0282 a0001c0001t0016g0283 a0001c0001t0016g0288 a0001c0001t0016g0290 a0001c0001t0020g0237 a0001c0001t0020g0241 a0001c0001t0020g0292 a0001c0001t0025g0295 a0001c0001t0026g0268 a0001c0001t0026g0269 a0001c0001t0039g0257 a0001c0001t0040g0289 a0001c0001t0041g0236 a0001c0001t0044g0244 a0001c0011t0025g0296 a0001c0013t0004g0266 a0004c0006t0002g0273 a0004c0006t0002g0274 a0004c0006t0002g0280 a0004c0006t0002g0281 a0004c0006t0002g0291 a0004c0006t0043g0278 a0004c0006t0048g0272 a0005c0007t0004g0297 a0005c0007t0004g0298 a0009c0010t0042g0238 a0010c0015t0002g0243	69	318	0.2170	-58	c.205 others(75): Show c.205+2495_205+2552delACTCTGAGTTTGGTTTCTAAGTCAGCTT TAGGAAAAATTGTGAAGCAGGTATCTTTGG	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KA5_chr14_90842861_91065641	91044339	CAAAGAAA others(51): Show CAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAGGAAAGAAAGAAA GAAGGAAAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03491.hp2 NA18941.hp1 HG00621.hp2 HG03491.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0092 a0001c0001t0094 a0001c0001t0016 a0001c0001t0092 a0001c0001t0094	a0001c0001t0016g0061 a0001c0001t0092g0108 a0001c0001t0094g0036 a0001c0001t0016g0061 a0001c0001t0092g0108 a0001c0001t0094g0036	3	306	0.0098	-58	c.103 others(77): Show c.103+15935_103+15992delCTTTCCTTCTTTCTTTCTTTCCTTCT TTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(51): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	330	0.0030	-58	c.472 others(75): Show c.472+2032_472+2089delATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RRAGB_chrX_55712749_55763774	55754900	AGTAACAA others(51): Show AGTAACAATGAGCAAGAAAGCTATTCTGTCTTGATGTACGTGGCAGGACC GAAACCTGC	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	276	0.0036	-58	c.736 others(73): Show c.736-940_736-883delGTAACAATGAGCAAGAAAGCTATTCTGTCT TGATGTACGTGGCAGGACCGAAACCTGC	RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	7/9			chrX	TogoVar
RRP1B_chr21_43654560_43701079	43669045	AACAAAGC others(51): Show AACAAAGCCAACCCTGGTGATGCTGCAGTAAATGATCACCGTTACAGGGA GGGTGATTG	A A	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	372	0.0027	-58	c.131 others(73): Show c.131-826_131-769delCTGGTGATGCTGCAGTAAATGATCACCGTT ACAGGGAGGGTGATTGACAAAGCCAACC	RRP1B	ENSG00000160208.13	transcript	ENST00000340648.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr21	TogoVar
RTN1_chr14_59590983_59875776	59749190	ATATATAT others(51): Show ATATATATCTATATATATATCTATATATATCTATATATCTATATATATCT ATATATATC	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18977.hp1 NA18984.hp1 others(9): Show NA18964.hp1 NA18977.hp1 NA18984.hp1 NA18995.hp1 NA18999.hp2 NA19004.hp2 NA19012.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19085.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(9): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123	12	172	0.0698	-58	c.242 others(75): Show c.242-2767_242-2710delGATATATATAGATATATATAGATATATA GATATATATAGATATATATATAGATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUBCN_chr3_197663867_197741904	197667760	GATCACCT others(51): Show GATCACCTGAGGTCAGGAGTTCAAGACCATCCTGGCCAACATGGTGAAAT CCCATCTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01884.hp2 HG01891.hp2 others(29): Show HG00558.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03453.hp1 HG03516.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp2 NA18943.hp2 NA18953.hp2 NA19030.hp1 NA19043.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0014	a0001c0002 a0001c0008 a0002c0003 others(3): Show a0001c0002 a0001c0008 a0002c0003 a0003c0004 a0006c0020 a0014c0019	a0001c0002t0029 a0001c0002t0048 a0001c0008t0007 others(9): Show a0001c0002t0029 a0001c0002t0048 a0001c0008t0007 a0002c0003t0003 a0002c0003t0045 a0002c0003t0046 a0003c0004t0006 a0003c0004t0030 a0003c0004t0041 a0003c0004t0042 a0006c0020t0019 a0014c0019t0003	a0001c0002t0029g0098 a0001c0002t0048g0100 a0001c0008t0007g0002 others(23): Show a0001c0002t0029g0098 a0001c0002t0048g0100 a0001c0008t0007g0002 a0001c0008t0007g0007 a0001c0008t0007g0008 a0002c0003t0003g0001 a0002c0003t0003g0003 a0002c0003t0003g0009 a0002c0003t0003g0010 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0015 a0002c0003t0045g0016 a0002c0003t0046g0011 a0003c0004t0006g0164 a0003c0004t0006g0166 a0003c0004t0006g0167 a0003c0004t0006g0169 a0003c0004t0006g0170 a0003c0004t0006g0173 a0003c0004t0030g0174 a0003c0004t0041g0163 a0003c0004t0042g0168 a0006c0020t0019g0175 a0014c0019t0003g0017	32	186	0.1720	-58	c.72 others(69): Show c.7200_*7257delGGAGATGGGATTTCACCATGTTGGCCAGGATGGT CTTGAACTCCTGACCTCAGGTGAT	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding		1106		chr3	TogoVar
RUNDC3A_chr17_44303601_44323670	44312700	GCCCAGCG others(51): Show GCCCAGCGCCCCTCCCCCAGCGGTCCCTCCCCCAGCGCCCCTCCCCCAGT GGTCCCTCC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	412	0.0024	-58	c.223 others(71): Show c.223+37_223+94delCAGCGCCCCTCCCCCAGTGGTCCCTCCCCCAG CGCCCCTCCCCCAGCGGTCCCTCCCC	RUNDC3A	ENSG00000108309.14	transcript	ENST00000426726.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
RYR1_chr19_38428691_38592564	38540457	ATAATAAA others(51): Show ATAATAAACCTCCAATCATATACTACAGTATAATAAACCTCCAATCATAT ACTACAGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 NA19043.hp2 HG01884.hp1 HG02615.hp2 NA19043.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0098 a0004c0015t0001g0187 a0004c0015t0001g0188 a0004c0015t0001g0098 a0004c0015t0001g0187 a0004c0015t0001g0188	3	218	0.0138	-58	c.116 others(79): Show c.11689+2526_11689+2583delATAATAAACCTCCAATCATATACT ACAGTGTAATAAACCTCCAATCATATACTACAGT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38540523	CCTCCAAT others(51): Show CCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATACTACAGT GTAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show HG00639.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG02735.hp2 HG03490.hp2 HG03492.hp2 HG04199.hp2	a0001 a0001	a0001c0009 a0001c0018 a0001c0045 others(2): Show a0001c0009 a0001c0018 a0001c0045 a0001c0101 a0001c0111	a0001c0009t0001 a0001c0018t0001 a0001c0045t0001 others(2): Show a0001c0009t0001 a0001c0018t0001 a0001c0045t0001 a0001c0101t0001 a0001c0111t0001	a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0009t0001g0201 others(5): Show a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0009t0001g0201 a0001c0018t0001g0160 a0001c0018t0001g0161 a0001c0045t0001g0009 a0001c0101t0001g0041 a0001c0111t0001g0140	8	218	0.0367	-58	c.116 others(79): Show c.11689+2621_11689+2678delTCTCCAATCATATACTACAGTGTA ATAAACCTCCAATCATATACTACAGTGTAATAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175093	CCTCATGG others(51): Show CCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGAC ACCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-58	c.-36 others(69): Show c.-3699_-3642delCTCATGGGACGCCTGTGTTCTCATGGGACGCCTG TGCCCCTCATGGGACACCTGTGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3675		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175767	CCTCATGG others(51): Show CCTCATGGGATGCCTGTGTTCTCATGGGATGCCTGTGCCCCTCATGGGAC GCCTGCATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	418	0.0024	-58	c.-30 others(69): Show c.-3025_-2968delCTCATGGGATGCCTGTGTTCTCATGGGATGCCTG TGCCCCTCATGGGACGCCTGCATT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3001		chr19	TogoVar
SAP130_chr2_127936222_128033059	127982146	ACAATTTC others(51): Show ACAATTTCTTTTTACAAAGAAGAGCAAAAAAAAAAAATTTAGGGTGGTAG ATAGTAGAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19030.hp1 HG01175.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0313 a0001c0007t0005g0314 a0001c0007t0005g0313 a0001c0007t0005g0314	2	350	0.0057	-58	c.195 others(77): Show c.1959-4115_1959-4058delCTCTACTATCTACCACCCTAAATTTT TTTTTTTTGCTCTTCTTTGTAAAAAGAAATTG	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	14/20			chr2	TogoVar
SART1_chr11_65956734_65985137	65971120	TGCTGAGG others(51): Show TGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCAGAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02809.hp1 HG02922.hp2 HG01106.hp1 HG02809.hp1 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0042 a0001c0005t0002g0260 a0001c0005t0002g0263 a0001c0005t0002g0042 a0001c0005t0002g0260 a0001c0005t0002g0263	3	384	0.0078	-58	c.157 others(77): Show c.1572+3317_1572+3374delGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCAGAAGCTGAGGAGGGGGATGG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SATB2_chr2_199264505_199462939	199286409	CATGACCA others(51): Show CATGACCAAAACCATTCCACAAAAACAACAAACACAATCCATGAGAAGAC TTGGGAAGA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	254	0.0039	-58	c.174 others(79): Show c.1741-13795_1741-13738delTCTTCCCAAGTCTTCTCATGGATT GTGTTTGTTGTTTTTGTGGAATGGTTTTGGTCAT	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	10/10			chr2	TogoVar
SCEL_chr13_77530706_77650263	77632227	CTTATCTC others(51): Show CTTATCTCTCCTGTTTGTGGATTTTGCAAACTGGTGATTTTTGATATTCT ATTGCTGAG	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0248 a0010c0017t0001g0248	1	356	0.0028	-58	c.169 others(77): Show c.1692-2151_1692-2094delTTATCTCTCCTGTTTGTGGATTTTGC AAACTGGTGATTTTTGATATTCTATTGCTGAG	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32			chr13	TogoVar
SCGB1C1_chr11_188078_199575	191804	ACCCTAAC others(51): Show ACCCTAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTA ACCCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	1	354	0.0028	-58	c.-12 others(69): Show c.-1295_-1238delCCCTAACCCTAACCCCTAACCCCTAACCCTAACC CTAACCCTAACCCTAACCCCTAAC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1273		chr11	TogoVar
SCN11A_chr3_38840764_39056944	38963366	TATATATA others(51): Show TATATATATATATATATATATGATGGAGATATATATATATATATATATAT ATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01109.hp2 others(17): Show HG00642.hp2 HG01074.hp1 HG01109.hp2 HG01169.hp1 HG01516.hp1 HG02056.hp1 HG02074.hp2 HG02148.hp2 HG02165.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 NA18747.hp1 NA18949.hp2 NA18982.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0001c0007 others(2): Show a0001c0002 a0001c0005 a0001c0007 a0002c0014 a0003c0004	a0001c0002t0001 a0001c0005t0001 a0001c0007t0005 others(3): Show a0001c0002t0001 a0001c0005t0001 a0001c0007t0005 a0001c0007t0010 a0002c0014t0001 a0003c0004t0001	a0001c0002t0001g0154 a0001c0002t0001g0181 a0001c0005t0001g0240 others(17): Show a0001c0002t0001g0154 a0001c0002t0001g0181 a0001c0005t0001g0240 a0001c0005t0001g0241 a0001c0005t0001g0242 a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0252 a0001c0007t0005g0300 a0001c0007t0005g0303 a0001c0007t0010g0247 a0002c0014t0001g0226 a0002c0014t0001g0236 a0003c0004t0001g0086 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0004t0001g0211 a0003c0004t0001g0217 a0003c0004t0001g0225 a0003c0004t0001g0227	20	314	0.0637	-58	c.-27 others(77): Show c.-279-3001_-279-2944delCTCCATCATATATATATATATATATA TATATCTCCATCATATATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN9A_chr2_166190185_166380944	166201595	GTATACTA others(51): Show GTATACTATATATATAGTATAGAGTATGCGTATACTATATATATAGTATA GAGTATGTA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0265 a0001c0003t0002g0265	1	296	0.0034	-58	c.477 others(77): Show c.4775-1789_4775-1732delTACATACTCTATACTATATATATAGT ATACGCATACTCTATACTATATATATAGTATA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288760	TGTCCCTG others(51): Show TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCC GTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03540.hp1 HG04184.hp2 others(1): Show HG01261.hp1 HG03540.hp1 HG04184.hp2 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0003c0004 a0001c0001 a0001c0012 a0003c0004	a0001c0001t0001 a0001c0012t0001 a0003c0004t0003 a0001c0001t0001 a0001c0012t0001 a0003c0004t0003	a0001c0001t0001g0223 a0001c0012t0001g0130 a0003c0004t0003g0141 others(1): Show a0001c0001t0001g0223 a0001c0012t0001g0130 a0003c0004t0003g0141 a0003c0004t0003g0146	4	290	0.0138	-58	c.166 others(75): Show c.1662+727_1662+784delCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGTTCCGTCCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288890	TGTCCCTG others(51): Show TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCC GTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19079.hp1 NA18969.hp2 NA19079.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0013 a0002c0002 a0009c0013	a0002c0002t0001 a0009c0013t0001 a0002c0002t0001 a0009c0013t0001	a0002c0002t0001g0059 a0009c0013t0001g0078 a0002c0002t0001g0059 a0009c0013t0001g0078	2	290	0.0069	-58	c.166 others(75): Show c.1662+857_1662+914delCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGTTCCGTCCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289062	TCTGCTCC others(51): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT CCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0273 a0006c0010t0007g0273	1	290	0.0035	-58	c.166 others(77): Show c.1662+1038_1662+1095delCCGAGTCTCTGCTCCGTCCCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289129	TCCCGTGT others(51): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19056.hp1 HG02922.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0242 a0002c0002t0001g0016 a0001c0001t0001g0242 a0002c0002t0001g0016	2	290	0.0069	-58	c.166 others(77): Show c.1662+1106_1663-1071delCCCGTCCCGTGTCCCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCO1_chr17_10667474_10702533	10698676	CCCAGTAA others(51): Show CCCAGTAACGGAACATAGTGTTACCTGTGTTTCTTGATTCGCGGTTGGAC TAGAATTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0014 a0001c0001t0012g0014	1	416	0.0024	-58	c.-12 others(69): Show c.-1227_-1170delAAAATTCTAGTCCAACCGCGAATCAAGAAACACA GGTAACACTATGTTCCGTTACTGG	SCO1	ENSG00000133028.12	transcript	ENST00000255390.10	protein_coding		1144		chr17	TogoVar
SCYL3_chr1_169844631_169898896	169850987	TTTTTTTT others(51): Show TTTTTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAGGGTAAGC TCAGGGCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02647.hp2 others(4): Show HG02055.hp1 HG02630.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0008 a0001c0003 a0006c0008	a0001c0003t0015 a0006c0008t0015 a0001c0003t0015 a0006c0008t0015	a0001c0003t0015g0205 a0001c0003t0015g0210 a0001c0003t0015g0211 others(4): Show a0001c0003t0015g0205 a0001c0003t0015g0210 a0001c0003t0015g0211 a0001c0003t0015g0214 a0001c0003t0015g0225 a0001c0003t0015g0230 a0006c0008t0015g0207	7	418	0.0168	-58	c.26 others(69): Show c.2668_*2725delGGGCCCTGAGCTTACCCTGGCTTGGGAGGCTGCC CAAATAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2668		chr1	TogoVar
SDF4_chr1_1211931_1237001	1227321	TGCGGGAA others(51): Show TGCGGGAAGGCGAGCTCGTGGCCAGGCCCGGCGGGAAGGCGAGCTCGTGG CCAGGCCCG	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	400	0.0025	-58	c.305 others(75): Show c.305+1089_305+1146delCGGGCCTGGCCACGAGCTCGCCTTCCCG CCGGGCCTGGCCACGAGCTCGCCTTCCCGC	SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding	2/6			chr1	TogoVar
SDK1_chr7_3296252_4274000	4264441	AAGGCCGC others(51): Show AAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCT GAGTGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02735.hp1 NA20752.hp1 HG00735.hp1 HG02735.hp1 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0009 a0005c0055 a0001c0002 a0002c0009 a0005c0055	a0001c0002t0004 a0002c0009t0056 a0005c0055t0055 a0001c0002t0004 a0002c0009t0056 a0005c0055t0055	a0001c0002t0004g0104 a0002c0009t0056g0044 a0005c0055t0055g0021 a0001c0002t0004g0104 a0002c0009t0056g0044 a0005c0055t0055g0021	3	116	0.0259	-58	c.638 others(75): Show c.6382-599_6382-542delAGGGAGGCCGCGTGGACCTCTCCTGAGT GAGGGAGGCCGCGTGGACCTCTCCTGAGTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC23A_chr14_39026919_39108235	39094309	CATATATA others(51): Show CATATATATGCATATATACACATATACACATATATATGCATATATACACA TATACATAT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	366	0.0027	-58	c.222 others(75): Show c.222-1123_222-1066delATATGTATATGTGTATATATGCATATAT ATGTGTATATGTGTATATATGCATATATAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094317	TGCATATA others(51): Show TGCATATATACACATATACACATATATATGCATATATACACATATACATA TATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(93): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp1 HG02293.hp1 HG02300.hp1 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02976.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0294 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0004g0155 a0001c0001t0004g0162 a0001c0003t0001g0214 a0002c0002t0001g0010 a0002c0002t0001g0150 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0242 a0002c0002t0001g0300 a0002c0002t0004g0205 a0002c0002t0007g0187 a0002c0002t0008g0196	96	366	0.2623	-58	c.222 others(75): Show c.222-1131_222-1074delGTATATATATATGTATATGTGTATATAT GCATATATATGTGTATATGTGTATATATGC	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEMA3E_chr7_83358238_83654139	83389701	CACATATA others(51): Show CACATATATACACGTATATATTACATGTATACATATATACACGTATATAT TACATGTAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp2 HG02451.hp1 others(6): Show HG01081.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02717.hp1 HG02818.hp2 HG03041.hp1 HG03098.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0029 a0001c0001t0051 a0001c0001t0052 others(2): Show a0001c0001t0029 a0001c0001t0051 a0001c0001t0052 a0001c0005t0006 a0001c0005t0015	a0001c0001t0029g0113 a0001c0001t0029g0172 a0001c0001t0051g0046 others(6): Show a0001c0001t0029g0113 a0001c0001t0029g0172 a0001c0001t0051g0046 a0001c0001t0052g0050 a0001c0005t0006g0043 a0001c0005t0006g0044 a0001c0005t0006g0045 a0001c0005t0006g0049 a0001c0005t0015g0180	9	226	0.0398	-58	c.166 others(77): Show c.1668-2709_1668-2652delATACATGTAATATATACGTGTATATA TGTATACATGTAATATATACGTGTATATATGT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89423752	ACCTCAGC others(51): Show ACCTCAGCACCTCCCCTCCCTCAGCTACTCCCTCAGTGCCTCCCCTCCCT CCACTAATC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(36): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00673.hp1 HG01074.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02738.hp2 HG03942.hp2 NA18612.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18982.hp1 NA18982.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA19011.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0027 a0001c0003t0009 a0002c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0158 others(36): Show a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0158 a0001c0001t0001g0203 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0325 a0001c0001t0002g0341 a0001c0001t0002g0350 a0001c0001t0005g0268 a0001c0001t0005g0271 a0001c0001t0009g0358 a0001c0001t0012g0308 a0001c0001t0012g0322 a0001c0001t0012g0331 a0001c0001t0012g0335 a0001c0001t0012g0344 a0001c0001t0012g0352 a0001c0001t0016g0054 a0001c0001t0016g0116 a0001c0001t0016g0148 a0001c0001t0027g0001 a0001c0003t0009g0285 a0002c0002t0001g0267	39	370	0.1054	-58	c.-24 others(79): Show c.-243-18111_-243-18054delGATTAGTGGAGGGAGGGGAGGCAC TGAGGGAGTAGCTGAGGGAGGGGAGGTGCTGAGG	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SENP3_chr17_7556919_7576969	7571854	TATATATA others(51): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG03453.hp2 HG01243.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0028 a0001c0001t0072g0028	2	446	0.0045	-58	c.37 others(67): Show c.379_*436delTATATATATATATATATATATATATATATATATATA TATATATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	379	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN8_chr5_132745819_132782239	132770023	ACACACAC others(51): Show ACACACACATATATATATATGTGTGTGTGTGTGTGTGTGTGTATATATAT ATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	326	0.0031	-58	c.31- others(73): Show c.31-4552_31-4495delCATATATATATATATATACACACACACACA CACACACACATATATATATATGTGTGTG	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80172593	AATGATAA others(51): Show AATGATAATGACCGTCATATTCCTGAAACTGTGCCAGACACTCCAATGAC CTTGGAATT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03041.hp2 HG03098.hp2 others(1): Show HG02257.hp1 HG03041.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0051 a0001c0001t0052 a0001c0001t0029 a0001c0001t0051 a0001c0001t0052	a0001c0001t0029g0102 a0001c0001t0029g0144 a0001c0001t0051g0236 others(1): Show a0001c0001t0029g0102 a0001c0001t0029g0144 a0001c0001t0051g0236 a0001c0001t0052g0055	4	286	0.0140	-58	c.551 others(75): Show c.551+2303_551+2360delAATTCCAAGGTCATTGGAGTGTCTGGCA CAGTTTCAGGAATATGACGGTCATTATCAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	5/11			chr5	TogoVar
SH2D1A_chrX_124341563_124378160	124350608	ATTGTATA others(51): Show ATTGTATATAAGATAATATATTATATATTGTATATAAGATATAATATATT ATATATTGT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03225.hp1 HG02602.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0144 a0001c0001t0001g0145	2	318	0.0063	-58	c.137 others(75): Show c.137+3830_137+3887delTTGTATATAAGATAATATATTATATATT GTATATAAGATATAATATATTATATATTGT	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3			chrX	TogoVar
SH3RF3_chr2_109124205_109509634	109461405	AAGGCCCC others(51): Show AAGGCCCCACGTAGCATCCCTGTCTGTCCTAAAGACCTGCGCGGTGATCC ACCTGCCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp1 HG04184.hp1 others(2): Show HG00099.hp2 HG01099.hp1 HG04184.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0065 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0065 a0001c0010t0027 a0002c0002t0031	a0001c0001t0001g0037 a0001c0001t0003g0112 a0001c0003t0065g0106 others(2): Show a0001c0001t0001g0037 a0001c0001t0003g0112 a0001c0003t0065g0106 a0001c0010t0027g0018 a0002c0002t0031g0159	5	172	0.0291	-58	c.214 others(79): Show c.2148+12174_2148+12231delTCCTAAAGACCTGCGCGGTGATCC ACCTGCCAGAGGCCCCACGTAGCATCCCTGTCTG	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50699972	CATTGGAG others(51): Show CATTGGAGGATTGGAGGGATCGGGGCATTGGAGGGTTGGAAGGCTCGGGG CATTGGAGG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0254 a0001c0003t0004g0254	1	316	0.0032	-58	c.174 others(77): Show c.1748-2074_1748-2017delCCTCCAATGCCCCGAGCCTTCCAACC CTCCAATGCCCCGATCCCTCCAATCCTCCAAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHC2_chr19_411589_466033	432344	GGGGCAGA others(51): Show GGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0038 a0001c0001t0011g0038	1	212	0.0047	-58	c.111 others(77): Show c.1111-1655_1111-1598delGGCCTCCTCTAACTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCTATCTGCCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432928	CAGATGGC others(51): Show CAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01981.hp1 HG01981.hp2 others(2): Show HG01358.hp2 HG01981.hp1 HG01981.hp2 HG02148.hp2 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0011 a0002c0004t0001 others(1): Show a0001c0001t0004 a0001c0001t0011 a0002c0004t0001 a0002c0004t0004	a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0011g0038 others(2): Show a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0011g0038 a0002c0004t0001g0192 a0002c0004t0004g0191	5	212	0.0236	-58	c.111 others(77): Show c.1110+1723_1110+1780delATCTGCCCGGCCTCCTCTATCTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432979	GGGCAGAT others(51): Show GGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAG AGGAGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0008 a0001c0005t0015g0008	1	212	0.0047	-58	c.111 others(77): Show c.1110+1672_1110+1729delTGGCCTCCTCTATCTCTCACTCACGA TCTCACTCACGATGAAGCGCCATCTATCTGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	456776	AGAACTCT others(51): Show AGAACTCTGTCTGCAATCCCCACCACGTGGGGCCTTTGCACCTGCTGTGC CCCTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01258.hp1 HG02055.hp2 others(13): Show HG00423.hp1 HG01258.hp1 HG02055.hp2 HG02258.hp2 HG02922.hp1 HG02976.hp1 HG03195.hp2 HG03540.hp1 HG03579.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18947.hp1 NA18960.hp2 NA18971.hp1 NA19080.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0018 a0002c0004 a0009c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0007t0006 a0001c0018t0006 a0002c0004t0005 a0009c0021t0002	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0036 others(13): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0036 a0001c0001t0003g0171 a0001c0001t0003g0180 a0001c0001t0006g0043 a0001c0002t0001g0172 a0001c0002t0003g0173 a0001c0002t0003g0178 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0003t0002g0181 a0001c0007t0006g0042 a0001c0018t0006g0179 a0002c0004t0005g0190 a0009c0021t0002g0032	16	212	0.0755	-58	c.468 others(75): Show c.468+3695_468+3752delCAGGCAGGGGCACAGCAGGTGCAAAGGC CCCACGTGGTGGGGATTGCAGACAGAGTTC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	459237	CCCAGCGT others(51): Show CCCAGCGTAGGGGGAAGGACCCCTCTCAACTCGGTGTAGGGGGAAGGACC CCACTGAAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02622.hp2 others(5): Show HG01891.hp1 HG02145.hp2 HG02622.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0013	a0001c0001t0005 a0001c0001t0007 a0001c0005t0006 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0005t0006 a0001c0005t0015 a0001c0007t0003 a0001c0013t0005	a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 others(5): Show a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0007g0041 a0001c0005t0006g0009 a0001c0005t0015g0008 a0001c0007t0003g0030 a0001c0013t0005g0007	8	212	0.0377	-58	c.468 others(75): Show c.468+1234_468+1291delCTTCAGTGGGGTCCTTCCCCCTACACCG AGTTGAGAGGGGTCCTTCCCCCTACGCTGG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHOC1_chr9_111681171_111799937	111791752	GTAACCAT others(51): Show GTAACCATATTTCTCAAGTGGTCTTGAGAATAACCATATTTCTCAAGTGG TCTTGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00621.hp1 others(70): Show HG00140.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19078.hp2 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0005 others(7): Show a0002 a0003 a0005 a0006 a0008 a0011 a0015 a0016 a0017 a0020	a0002c0002 a0002c0007 a0002c0010 others(11): Show a0002c0002 a0002c0007 a0002c0010 a0002c0011 a0002c0012 a0003c0003 a0005c0005 a0006c0006 a0008c0009 a0011c0014 a0015c0022 a0016c0030 a0017c0015 a0020c0029	a0002c0002t0002 a0002c0007t0001 a0002c0007t0004 others(14): Show a0002c0002t0002 a0002c0007t0001 a0002c0007t0004 a0002c0007t0006 a0002c0010t0002 a0002c0010t0004 a0002c0011t0005 a0002c0012t0006 a0003c0003t0002 a0005c0005t0003 a0006c0006t0001 a0008c0009t0001 a0011c0014t0002 a0015c0022t0002 a0016c0030t0002 a0017c0015t0003 a0020c0029t0001	a0002c0002t0002g0228 a0002c0007t0001g0115 a0002c0007t0004g0221 others(66): Show a0002c0002t0002g0228 a0002c0007t0001g0115 a0002c0007t0004g0221 a0002c0007t0004g0267 a0002c0007t0006g0266 a0002c0010t0002g0016 a0002c0010t0004g0112 a0002c0010t0004g0113 a0002c0011t0005g0173 a0002c0011t0005g0174 a0002c0011t0005g0175 a0002c0011t0005g0176 a0002c0012t0006g0261 a0002c0012t0006g0262 a0002c0012t0006g0264 a0002c0012t0006g0265 a0003c0003t0002g0011 a0003c0003t0002g0077 a0003c0003t0002g0083 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0099 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0108 a0003c0003t0002g0111 a0005c0005t0003g0003 a0005c0005t0003g0020 a0005c0005t0003g0021 a0005c0005t0003g0022 a0005c0005t0003g0025 a0005c0005t0003g0026 a0005c0005t0003g0027 a0005c0005t0003g0029 a0005c0005t0003g0030 a0005c0005t0003g0031 a0005c0005t0003g0032 a0005c0005t0003g0033 a0005c0005t0003g0036 a0005c0005t0003g0037 a0005c0005t0003g0038 a0005c0005t0003g0039 a0005c0005t0003g0166 a0006c0006t0001g0034 a0006c0006t0001g0035 a0008c0009t0001g0084 a0008c0009t0001g0100 a0008c0009t0001g0101 a0008c0009t0001g0102 a0008c0009t0001g0103 a0008c0009t0001g0104 a0008c0009t0001g0107 a0011c0014t0002g0023 a0011c0014t0002g0028 a0015c0022t0002g0263 a0016c0030t0002g0089 a0017c0015t0003g0024 a0020c0029t0001g0268	73	296	0.2466	-58	c.-36 others(73): Show c.-36-356_-36-299delTTCTCAAGACCACTTGAGAAATATGGTTAT TCTCAAGACCACTTGAGAAATATGGTTA	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	1/27			chr9	TogoVar
SIGIRR_chr11_400716_419999	402676	ACCCCCGA others(51): Show ACCCCCGACCCGCTCACCCCGACCCCGCTCACCCCCGCCCCGCTCACCCC TGCCCCGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0225 a0004c0014t0001g0225	1	242	0.0041	-58	c.31 others(69): Show c.3162_*3219delAGCGGGGCAGGGGTGAGCGGGGCGGGGGTGAGCG GGGTCGGGGTGAGCGGGTCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3039		chr11	TogoVar

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