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
AKAP17A_chrX_1586604_1607520	1596799	TGTGCCCT others(50): Show TGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCT GCCGTGTC	T T	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0095 a0001c0025t0001g0095	1	151	0.0066	-57	c.911 others(74): Show c.911+1268_911+1324delGTGCCCTCCTAGTGAGGCGGATTCGTCC TCTTCCTCCTCCATCCCTCCTGCCGTGTC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4			chrX	TogoVar
ALOXE3_chr17_8090900_8123514	8107995	GAAGGAAA others(50): Show GAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0297	1	422	0.0024	-57	c.168 others(74): Show c.1684+416_1684+472delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ANK1_chr8_41648225_41802622	41671827	GTGAGTCC others(50): Show GTGAGTCCTCCCGGTGCCCCGATGTCCTAAGTGAGCCCTCCCAGCGCCCC GATGTCCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG01891.hp1 HG02451.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0002c0057 a0001c0018 a0002c0057	a0001c0018t0026 a0002c0057t0005 a0001c0018t0026 a0002c0057t0005	a0001c0018t0026g0113 a0002c0057t0005g0269 a0001c0018t0026g0113 a0002c0057t0005g0269	2	278	0.0072	-57	c.509 others(74): Show c.5096+470_5096+526delGGGACATCGGGGCGCTGGGAGGGCTCAC TTAGGACATCGGGGCACCGGGAGGACTCA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	38/42			chr8	TogoVar
ANKFN1_chr17_56148475_56522016	56467793	AGAAAGAA others(50): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 HG02486.hp2 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0015 a0003c0003t0003 a0001c0004t0015 a0003c0003t0003	a0001c0004t0015g0010 a0003c0003t0003g0111 a0001c0004t0015g0010 a0003c0003t0003g0111	2	112	0.0179	-57	c.177 others(76): Show c.1773+1223_1773+1279delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	15/20			chr17	TogoVar
ANKLE2_chr12_132720503_132766832	132737966	CTGGTCTC others(50): Show CTGGTCTCGAACTGCTGGATGCAAGTGATCATTCCACCTCCACCTCCAAA AGTTCTGG	C C	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0307 a0002c0008t0001g0307	1	350	0.0029	-57	c.142 others(74): Show c.1421-958_1421-902delCCAGAACTTTTGGAGGTGGAGGTGGAAT GATCACTTGCATCCAGCAGTTCGAGACCA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	7/12			chr12	TogoVar
ANKRD24_chr19_4177689_4229814	4210565	AGTGTCCT others(50): Show AGTGTCCTCTGCCTGGAATGCTCTAGCGCAGTCCTGCCTCAGGGCCTTTG CACCACCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00558.hp2 others(87): Show HG00099.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19030.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA20805.hp1	a0001 a0002 a0007 others(7): Show a0001 a0002 a0007 a0010 a0015 a0016 a0021 a0023 a0027 a0028	a0001c0002 a0001c0023 a0002c0001 others(11): Show a0001c0002 a0001c0023 a0002c0001 a0007c0011 a0007c0041 a0007c0042 a0010c0014 a0010c0055 a0015c0039 a0016c0025 a0021c0038 a0023c0044 a0027c0040 a0028c0056	a0001c0002t0001 a0001c0002t0002 a0001c0023t0001 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0023t0001 a0001c0023t0002 a0002c0001t0001 a0007c0011t0001 a0007c0011t0002 a0007c0041t0001 a0007c0042t0002 a0010c0014t0001 a0010c0055t0001 a0015c0039t0002 a0016c0025t0001 a0016c0025t0002 a0021c0038t0002 a0023c0044t0001 a0027c0040t0001 a0028c0056t0002	a0001c0002t0001g0002 a0001c0002t0001g0020 a0001c0002t0001g0022 others(86): Show a0001c0002t0001g0002 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0101 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0002t0001g0185 a0001c0002t0001g0199 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0238 a0001c0002t0001g0242 a0001c0002t0002g0246 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0267 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0286 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0318 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0324 a0001c0002t0002g0334 a0001c0002t0002g0338 a0001c0002t0002g0340 a0001c0002t0002g0346 a0001c0002t0002g0349 a0001c0002t0002g0352 a0001c0023t0001g0041 a0001c0023t0002g0326 a0002c0001t0001g0049 a0007c0011t0001g0016 a0007c0011t0001g0035 a0007c0011t0001g0065 a0007c0011t0001g0191 a0007c0011t0002g0341 a0007c0041t0001g0213 a0007c0042t0002g0310 a0010c0014t0001g0010 a0010c0014t0001g0106 a0010c0014t0001g0140 a0010c0014t0001g0144 a0010c0055t0001g0011 a0015c0039t0002g0313 a0016c0025t0001g0107 a0016c0025t0002g0235 a0021c0038t0002g0291 a0023c0044t0001g0112 a0027c0040t0001g0037 a0028c0056t0002g0350	90	356	0.2528	-57	c.105 others(74): Show c.1059+220_1059+276delGCAGTCCTGCCTCAGGGCCTTTGCACCA CCTGTGTCCTCTGCCTGGAATGCTCTAGC	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD30B_chr18_14743172_14859667	14815471	GAGGAGAG others(50): Show GAGGAGAGGCCTTTCATGGGAAAAATGTGGAAGAAGAGTAATTGGATAGA GGGTCAAA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	316	0.0032	-57	c.264 others(74): Show c.2641+781_2641+837delAAAATGTGGAAGAAGAGTAATTGGATAG AGGGTCAAAAGGAGAGGCCTTTCATGGGA	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	30/43		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANO7_chr2_241183677_241230976	241218007	CTGGGGGC others(50): Show CTGGGGGCATCGGGGGCTCGTAGGGGCGGGGCGGGGGGGCGGCGGGGGCG GGCAGGGG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0008 a0009c0016t0008	a0009c0016t0008g0150 a0009c0016t0008g0150	1	396	0.0025	-57	c.217 others(74): Show c.2178+117_2178+173delTGGGGGCATCGGGGGCTCGTAGGGGCGG GGCGGGGGGGCGGCGGGGGCGGGCAGGGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24			chr2	TogoVar
AP3D1_chr19_2095988_2156566	2131619	AGCGCCCA others(50): Show AGCGCCCATCGGCCACGATCTAGACACCTCCAGGCGGACAGGCAGCCACG CGGGGACT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0045 a0001c0004t0002g0045	1	406	0.0025	-57	c.462 others(72): Show c.462+795_462+851delAGTCCCCGCGTGGCTGCCTGTCCGCCTGGA GGTGTCTAGATCGTGGCCGATGGGCGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	5/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2131650	AGGCGGAC others(50): Show AGGCGGACAGGCAGCCACGCGGGGACTGCGCCCATCGGCCACGATCTAGA CACCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(86): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01975.hp1 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG03017.hp2 HG03471.hp1 HG03654.hp2 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18971.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18990.hp1 NA18992.hp2 NA18998.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19087.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0002c0009 a0004c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 a0001c0006t0002 a0001c0006t0008 a0001c0006t0015 a0001c0010t0001 a0002c0009t0002 a0004c0024t0001	a0001c0001t0001g0263 a0001c0001t0001g0336 a0001c0002t0001g0003 others(83): Show a0001c0001t0001g0263 a0001c0001t0001g0336 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0187 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0012g0006 a0001c0006t0002g0260 a0001c0006t0002g0308 a0001c0006t0002g0311 a0001c0006t0002g0312 a0001c0006t0002g0314 a0001c0006t0002g0317 a0001c0006t0002g0330 a0001c0006t0008g0256 a0001c0006t0008g0319 a0001c0006t0015g0384 a0001c0010t0001g0266 a0001c0010t0001g0286 a0001c0010t0001g0293 a0001c0010t0001g0299 a0002c0009t0002g0265 a0002c0009t0002g0276 a0002c0009t0002g0277 a0002c0009t0002g0278 a0002c0009t0002g0292 a0004c0024t0001g0283	89	406	0.2192	-57	c.462 others(72): Show c.462+764_462+820delCGGAGGTGTCTAGATCGTGGCCGATGGGCG CAGTCCCCGCGTGGCTGCCTGTCCGCC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	5/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2131676	TGCGCCCA others(50): Show TGCGCCCATCGGCCACGATCTAGACACCTCCGGGCGGACAGGCAGCCACG CGGGGACC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0079 a0001c0003t0002g0079	1	406	0.0025	-57	c.462 others(72): Show c.462+738_462+794delGGTCCCCGCGTGGCTGCCTGTCCGCCCGGA GGTGTCTAGATCGTGGCCGATGGGCGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	5/31			chr19	TogoVar
APMAP_chr20_24957925_24997751	24982234	AAAAGCTG others(50): Show AAAAGCTGAGCCCAGGAGAGAGGTCCCTGTTGGCTGTGATGGTTCCACTG CCATTCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0018 a0002c0004 a0003c0005 a0004c0007 a0004c0012 a0005c0006 a0006c0010 a0007c0011 a0008c0015 a0009c0014 a0010c0013 a0011c0019 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0003 a0001c0003t0004 a0001c0003t0005 a0001c0008t0003 a0001c0009t0006 a0001c0018t0001 a0002c0004t0001 a0003c0005t0001 a0004c0007t0001 a0004c0012t0001 a0005c0006t0001 a0006c0010t0001 a0007c0011t0001 a0008c0015t0001 a0009c0014t0001 a0010c0013t0013 a0011c0019t0001 a0013c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(138): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0003g0016 a0001c0001t0003g0060 a0001c0001t0007g0053 a0001c0001t0008g0137 a0001c0001t0009g0142 a0001c0001t0010g0099 a0001c0001t0011g0084 a0001c0001t0012g0143 a0001c0002t0003g0007 a0001c0002t0003g0012 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0003t0004g0027 a0001c0003t0004g0066 a0001c0003t0004g0067 a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0070 a0001c0003t0004g0071 a0001c0003t0005g0072 a0001c0003t0005g0073 a0001c0003t0005g0074 a0001c0003t0005g0075 a0001c0008t0003g0058 a0001c0008t0003g0059 a0001c0009t0006g0022 a0001c0018t0001g0152 a0002c0004t0001g0040 a0002c0004t0001g0128 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0150 a0003c0005t0001g0021 a0003c0005t0001g0046 a0003c0005t0001g0151 a0004c0007t0001g0033 a0004c0007t0001g0090 a0004c0012t0001g0032 a0005c0006t0001g0037 a0005c0006t0001g0101 a0006c0010t0001g0045 a0007c0011t0001g0144 a0007c0011t0001g0145 a0008c0015t0001g0098 a0009c0014t0001g0136 a0010c0013t0013g0100 a0011c0019t0001g0116 a0013c0017t0001g0121	261	290	0.9000	-57	c.212 others(74): Show c.212+1612_212+1668delCGGAATGGCAGTGGAACCATCACAGCCA ACAGGGACCTCTCTCCTGGGCTCAGCTTT	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	2/8			chr20	TogoVar
ARHGAP10_chr4_147727088_148077776	147784704	ATATATTA others(50): Show ATATATTATAAATATAATATATTATAAAATATATATTATAAATATATATT ATAAAATG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02080.hp2 HG04184.hp2 others(1): Show HG01993.hp1 HG02080.hp2 HG04184.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0002t0001g0033	4	106	0.0377	-57	c.155 others(76): Show c.155-37977_155-37921delTATTATAAAATGTATATTATAAATAT AATATATTATAAAATATATATTATAAATATA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF10_chr8_1818926_1963641	1888983	GGTGTGAG others(50): Show GGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTGAGGA AACATGGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18942.hp1 NA18960.hp2 others(3): Show HG02074.hp2 NA18942.hp1 NA18960.hp2 NA18995.hp1 NA19082.hp2 NA19087.hp2	a0002 a0002	a0002c0028 a0002c0033 a0002c0034 others(3): Show a0002c0028 a0002c0033 a0002c0034 a0002c0079 a0002c0082 a0002c0151	a0002c0028t0001 a0002c0033t0002 a0002c0034t0004 others(3): Show a0002c0028t0001 a0002c0033t0002 a0002c0034t0004 a0002c0079t0056 a0002c0082t0001 a0002c0151t0001	a0002c0028t0001g0223 a0002c0033t0002g0006 a0002c0034t0004g0148 others(3): Show a0002c0028t0001g0223 a0002c0033t0002g0006 a0002c0034t0004g0148 a0002c0079t0056g0043 a0002c0082t0001g0282 a0002c0151t0001g0011	6	363	0.0165	-57	c.118 others(76): Show c.1182+3280_1182+3336delTGAGGGGTCTACAAGGAGTCACGGAG TGCAGTGAGAGTTGTGAGGAAACATGGAGTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1889286	TTTGTGAG others(50): Show TTTGTGAGGAGATACTGCATGGGGTGAGCTTTCTTAGGAGACACTGAGTG GGTAAGAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03490.hp1 HG03492.hp2 others(1): Show HG02622.hp1 HG03490.hp1 HG03492.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0009 a0001c0002 a0001c0007 a0001c0009	a0001c0002t0001 a0001c0007t0003 a0001c0009t0023 a0001c0002t0001 a0001c0007t0003 a0001c0009t0023	a0001c0002t0001g0259 a0001c0007t0003g0143 a0001c0009t0023g0046 others(1): Show a0001c0002t0001g0259 a0001c0007t0003g0143 a0001c0009t0023g0046 a0001c0009t0023g0047	4	363	0.0110	-57	c.118 others(76): Show c.1182+3591_1182+3647delTACTGCATGGGGTGAGCTTTCTTAGG AGACACTGAGTGGGTAAGAGTTGTGAGGAGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARRDC2_chr19_18003170_18019102	18014652	CACCCGGC others(50): Show CACCCGGCTAATTTTTGAATTTTTAGTAGAGACGGGGTTTATTTTTTTTT TCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	414	0.0024	-57	c.16 others(68): Show c.1687_*1743delACCCGGCTAATTTTTGAATTTTTAGTAGAGACGG GGTTTATTTTTTTTTTCTTTCTT	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding		551		chr19	TogoVar
ARSI_chr5_150291343_150307905	150307031	CCCCACAA others(50): Show CCCCACAAGCTTCAGTAGCTGGCAAAGACACGTGGGACTCAGTGTGGAAG CAGAGAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG01884.hp1 others(24): Show HG00423.hp2 HG01496.hp1 HG01884.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02258.hp1 HG02258.hp2 HG02523.hp1 HG02615.hp2 HG02630.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp1 NA18906.hp2 NA18947.hp2 NA18949.hp2 NA18967.hp2 NA18970.hp2 NA18981.hp1 NA19030.hp2 NA19077.hp2 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0011 a0001c0003t0004 a0001c0005t0017 a0007c0010t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0002 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0002 a0001c0001t0004g0015 a0001c0002t0011g0020 a0001c0003t0004g0005 a0001c0005t0017g0044 a0007c0010t0004g0048	27	456	0.0592	-57	c.-47 others(68): Show c.-4715_-4659delATTCTCTGCTTCCACACTGAGTCCCACGTGTCTT TGCCAGCTACTGAAGCTTGTGGG	ARSI	ENSG00000183876.9	transcript	ENST00000328668.8	protein_coding		4127		chr5	TogoVar
ASAP1_chr8_130047104_130448674	130307201	TGTGCTTT others(50): Show TGTGCTTTTTCCATTGCTGTAATCCCCAACACCCAGAACAATTACTATAA AACAGTAA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0301 a0002c0002t0013g0301	1	308	0.0033	-57	c.186 others(76): Show c.186+50759_186+50815delTTACTGTTTTATAGTAATTGTTCTGG GTGTTGGGGATTACAGCAATGGAAAAAGCAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASMTL_chrX_1398139_1457909	1448471	ACATCTTG others(50): Show ACATCTTGGACACACACTGCCATCTTGGATAAGCACCACCATCTTGGACA CATGCCGC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01358.hp1 HG01081.hp2 HG01358.hp1	a0002 a0011 a0002 a0011	a0002c0005 a0011c0021 a0002c0005 a0011c0021	a0002c0005t0001 a0011c0021t0001 a0002c0005t0001 a0011c0021t0001	a0002c0005t0001g0138 a0011c0021t0001g0017 a0002c0005t0001g0138 a0011c0021t0001g0017	2	185	0.0108	-57	c.93+ others(72): Show c.93+4220_93+4276delGCGGCATGTGTCCAAGATGGTGGTGCTTAT CCAAGATGGCAGTGTGTGTCCAAGATG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ATP10A_chr15_25673712_25868327	25758343	TCCGACCA others(50): Show TCCGACCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTA ACTCATTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0293 a0004c0004t0002g0293	1	300	0.0033	-57	c.655 others(76): Show c.655-22259_655-22203delGAATGAGTTAGGGTGGAGCAGGTGAT TGGAATGAGTTAGGGTGGATCAGGTGGTCGG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112804058	TTCCCTCC others(50): Show TTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCT CCTTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0137 a0002c0003t0001g0137	1	254	0.0039	-57	c.163 others(72): Show c.163-895_163-839delCTCCTTCACCTCCCTCCCCCCATCCCCTCT CTGCCCTCCTTCCCCTCCTTTTCCTCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42555085	GTATCTAT others(50): Show GTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT ATCTAATC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG03195.hp1 others(2): Show HG02486.hp1 HG02647.hp1 HG03195.hp1 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0001t0015 a0001c0002t0005 others(2): Show a0001c0001t0004 a0001c0001t0015 a0001c0002t0005 a0001c0004t0004 a0001c0004t0010	a0001c0001t0004g0043 a0001c0001t0015g0011 a0001c0002t0005g0189 others(2): Show a0001c0001t0004g0043 a0001c0001t0015g0011 a0001c0002t0005g0189 a0001c0004t0004g0134 a0001c0004t0010g0295	5	310	0.0161	-57	c.141 others(74): Show c.1413+826_1413+882delGATTAGATAGATAGATAGATAGATAGAT AGATAGATAGATAGATAGATAGATAGATA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
AUTS2_chr7_69593475_70798506	69641392	ATTGCCTG others(50): Show ATTGCCTGCAGAGCCTTGCTTACACCTGTGTCATAGGCCTTATCATAATC TGCTTTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG01884.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0006 a0001c0001t0014	a0001c0001t0006g0038 a0001c0001t0014g0070 a0001c0001t0006g0038 a0001c0001t0014g0070	2	76	0.0263	-57	c.309 others(76): Show c.309+41431_309+41487delTTGCCTGCAGAGCCTTGCTTACACCT GTGTCATAGGCCTTATCATAATCTGCTTTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678943	GTGTGTGT others(50): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	446	0.0022	-57	c.287 others(72): Show c.287+619_287+675delACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACA	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	83055342	GGAGGTTC others(50): Show GGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTCGGTGCTGGGTG GGTTGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00621.hp1 others(39): Show HG00099.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG02055.hp1 HG02056.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02809.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 NA18522.hp2 NA18747.hp1 NA18945.hp2 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18971.hp2 NA18995.hp1 NA19012.hp2 NA19064.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0005 a0003c0021	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(16): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0022 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0003t0015 a0001c0003t0020 a0001c0006t0001 a0001c0006t0002 a0001c0007t0004 a0001c0007t0005 a0001c0007t0009 a0002c0005t0007 a0003c0021t0035	a0001c0001t0002g0133 a0001c0001t0004g0227 a0001c0001t0004g0237 others(38): Show a0001c0001t0002g0133 a0001c0001t0004g0227 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0253 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0005g0256 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0246 a0001c0001t0012g0148 a0001c0001t0015g0249 a0001c0001t0022g0239 a0001c0001t0036g0244 a0001c0001t0037g0259 a0001c0001t0039g0260 a0001c0003t0015g0198 a0001c0003t0015g0199 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0006t0001g0017 a0001c0006t0002g0007 a0001c0007t0004g0240 a0001c0007t0004g0241 a0001c0007t0005g0229 a0001c0007t0005g0233 a0001c0007t0005g0234 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0007t0005g0252 a0001c0007t0009g0255 a0002c0005t0007g0005 a0002c0005t0007g0228 a0002c0005t0007g0235 a0002c0005t0007g0236 a0002c0005t0007g0261 a0003c0021t0035g0187	42	266	0.1579	-57	c.-36 others(68): Show c.-3648_-3592delTGTCAACCCACCCAGCACCGAGTCTAACACCGTC CGTGCGGACCTGCAGGGAACCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3573		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83055754	GGTGCTGG others(50): Show GGTGCTGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCGCACGGACGGTGT TAGACTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG03225.hp2 others(4): Show HG02559.hp1 HG02886.hp1 HG03225.hp2 HG03453.hp2 HG06807.hp1 NA18966.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0011 a0001c0002 a0001c0004 a0001c0011	a0001c0002t0016 a0001c0004t0001 a0001c0011t0001 others(2): Show a0001c0002t0016 a0001c0004t0001 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017	a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0004t0001g0039 others(4): Show a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0004t0001g0039 a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0017g0145	7	266	0.0263	-57	c.-40 others(68): Show c.-4060_-4004delTGAGTCTAACACCGTCCGTGCGGACCTGCAGGGA ACCTCTGTCTCCCCACCCAGCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3985		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83055811	AGTGCTGG others(50): Show AGTGCTGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCGCACAGATGGTGT TAGACTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00621.hp1 others(45): Show HG00099.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02809.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 NA18522.hp2 NA18945.hp2 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18971.hp2 NA18983.hp1 NA18995.hp1 NA19012.hp2 NA19064.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0029 a0002c0005 a0003c0021 a0004c0017	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(20): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0022 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0003t0015 a0001c0003t0020 a0001c0006t0001 a0001c0006t0002 a0001c0007t0004 a0001c0007t0005 a0001c0007t0009 a0001c0011t0011 a0001c0011t0012 a0001c0029t0001 a0002c0005t0007 a0003c0021t0035 a0004c0017t0002	a0001c0001t0002g0133 a0001c0001t0004g0227 a0001c0001t0004g0237 others(44): Show a0001c0001t0002g0133 a0001c0001t0004g0227 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0253 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0005g0256 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0246 a0001c0001t0012g0148 a0001c0001t0015g0249 a0001c0001t0022g0230 a0001c0001t0022g0239 a0001c0001t0036g0244 a0001c0001t0037g0259 a0001c0001t0039g0260 a0001c0003t0015g0198 a0001c0003t0015g0199 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0006t0001g0017 a0001c0006t0002g0007 a0001c0007t0004g0240 a0001c0007t0005g0229 a0001c0007t0005g0233 a0001c0007t0005g0234 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0007t0005g0252 a0001c0007t0009g0255 a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0001c0029t0001g0141 a0002c0005t0007g0005 a0002c0005t0007g0228 a0002c0005t0007g0235 a0002c0005t0007g0236 a0002c0005t0007g0261 a0003c0021t0035g0187 a0004c0017t0002g0136 a0004c0017t0002g0137	48	266	0.1805	-57	c.-41 others(68): Show c.-4117_-4061delCGAGTCTAACACCATCTGTGCGGACCTGCAGGGA ACCTCTGTCTCCCCACCCAGCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		4042		chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81119632	CGGCCCCG others(50): Show CGGCCCCGCTCCCACAGTCACGGGCCCAGGCCCCGCCTCCCATCATGTCA CGGGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0320 a0001c0006t0010g0320	1	376	0.0027	-57	c.37 others(68): Show c.3794_*3850delGGCCCCGCTCCCACAGTCACGGGCCCAGGCCCCG CCTCCCATCATGTCACGGGCCCA	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		2199		chr17	TogoVar
BCL11A_chr2_60452194_60558654	60467402	ATGGTGAT others(50): Show ATGGTGATGGTACTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAAT GGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0012 a0001c0001t0019g0012	1	262	0.0038	-57	c.487 others(74): Show c.487+1273_487+1329delCCACCACCATTACCACCACCATCACTAC CACCACCACCATCACCAGTACCATCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467771	GAGATGGT others(50): Show GAGATGGTGGTGTTGATGGTGATGGTACTGGTGGTGATGGTACTGGTGGT GATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA21309.hp1 HG03225.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0045 a0001c0001t0012 a0001c0001t0045	a0001c0001t0012g0213 a0001c0001t0045g0114 a0001c0001t0012g0213 a0001c0001t0045g0114	2	262	0.0076	-57	c.487 others(72): Show c.487+904_487+960delTCACCATCACCACCAGTACCATCACCACCA GTACCATCACCATCAACACCACCATCT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL9_chr1_147536501_147631216	147541070	TGAGAGAG others(50): Show TGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG GAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01081.hp2 HG01123.hp2 others(18): Show HG00140.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG02135.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02965.hp2 HG02976.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18983.hp2 NA18984.hp1 NA19064.hp1 NA19240.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0002c0002t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0055 a0001c0001t0002g0221 others(17): Show a0001c0001t0001g0013 a0001c0001t0001g0055 a0001c0001t0002g0221 a0001c0001t0002g0281 a0001c0001t0003g0026 a0001c0001t0003g0162 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0005g0087 a0001c0001t0005g0186 a0001c0001t0008g0193 a0001c0001t0008g0215 a0001c0001t0011g0142 a0001c0001t0019g0274 a0002c0002t0001g0109 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0003t0001g0044 a0004c0005t0001g0059	21	316	0.0665	-57	c.-10 others(68): Show c.-1081_-1025delGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGA GAGAGAGAGAGAGAGGAGAGAGA	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		430		chr1	TogoVar
BID_chr22_17729138_17779469	17756431	TCTTCTTT others(50): Show TCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	362	0.0028	-57	c.-58 others(74): Show c.-58-6314_-58-6258delGAAAGAAAGAAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAG	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BID_chr22_17729138_17779469	17777794	ATCCCCTC others(50): Show ATCCCCTCTGGAAGGGCTGAGCTTCTCTCCCTTTCCACCTTCTGTTCTGA GCCACCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	362	0.0028	-57	c.-35 others(68): Show c.-3529_-3473delCGGGTGGCTCAGAACAGAAGGTGGAAAGGGAGAG AAGCTCAGCCCTTCCAGAGGGGA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding		3326		chr22	TogoVar
BPI_chr20_38299156_38342505	38314670	GTGATGGT others(50): Show GTGATGGTGATGGTGGGGATGATGATGGTGGTGATGGTGATGGTGGGGAT GATGATAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02486.hp2 others(7): Show HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG02886.hp1 HG03098.hp2 HG03195.hp1 HG03516.hp1 NA19030.hp2 NA20300.hp1	a0004 a0020 a0025 others(1): Show a0004 a0020 a0025 a0031	a0004c0004 a0020c0021 a0025c0049 others(1): Show a0004c0004 a0020c0021 a0025c0049 a0031c0047	a0004c0004t0001 a0020c0021t0002 a0025c0049t0001 others(1): Show a0004c0004t0001 a0020c0021t0002 a0025c0049t0001 a0031c0047t0002	a0004c0004t0001g0007 a0004c0004t0001g0096 a0004c0004t0001g0099 others(5): Show a0004c0004t0001g0007 a0004c0004t0001g0096 a0004c0004t0001g0099 a0020c0021t0002g0097 a0020c0021t0002g0098 a0020c0021t0002g0100 a0025c0049t0001g0302 a0031c0047t0002g0303	10	426	0.0235	-57	c.600 others(74): Show c.600+2771_600+2827delGATGGTGGGGATGATGATAATGATGGTG ATGGTGGGGATGATGATGGTGGTGATGGT	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BRAP_chr12_111637146_111690956	111651150	CCAGGGAT others(50): Show CCAGGGATCAGCTAGACCTTTCTTTTTAATCATTTTCCATACAGCCTGCC TAGCAAGT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02257.hp1 HG02717.hp2 others(5): Show HG01943.hp2 HG02257.hp1 HG02717.hp2 HG02809.hp1 HG02965.hp1 HG03130.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0002 a0001c0003t0002 a0001c0004t0002	a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0002g0230 others(5): Show a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0002g0230 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0004t0002g0226 a0001c0004t0002g0227	8	364	0.0220	-57	c.131 others(76): Show c.1312-1165_1312-1109delACTTGCTAGGCAGGCTGTATGGAAAA TGATTAAAAAGAAAGGTCTAGCTGATCCCTG	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	10/11			chr12	TogoVar
BSPH1_chr19_47963046_47997170	47969904	CTTTAGAA others(50): Show CTTTAGAATTTATGTTTGTGAGAGAGAGACTTTAGAATTTATGTTTCTGA GAGAGACT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0423 a0002c0003t0001g0423	1	444	0.0023	-57	c.3- others(72): Show c.3-1752_*3-1696delAGTCTCTCTCAGAAACATAAATTCTAAAGT CTCTCTCTCACAAACATAAATTCTAAA	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BTBD19_chr1_44803523_44820585	44816556	ATGTGTGT others(50): Show ATGTGTGTATATATTATATATACACATAGATGTGTGTGTATATATATACA CATAGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02004.hp1 NA18971.hp1 others(2): Show HG00438.hp1 HG02004.hp1 NA18971.hp1 NA18989.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0032 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0031g0021 a0001c0001t0031g0090	5	436	0.0115	-57	c.27 others(68): Show c.2785_*2841delTGTGTGTATATATTATATATACACATAGATGTGT GTGTATATATATACACATAGATG	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		972		chr1	TogoVar
C2CD2_chr21_41880112_41959018	41952218	ATTTATGT others(50): Show ATTTATGTTCTTTTTCAAGAGTTCAAAACAAGGTCTCTTGATTTGTTGGA TGGCTGCT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	396	0.0025	-57	c.279 others(74): Show c.279+1095_279+1151delAGCAGCCATCCAACAAATCAAGAGACCT TGTTTTGAACTCTTGAAAAAGAACATAAA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD4C_chr19_400445_414147	404258	GACGGGTC others(50): Show GACGGGTCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGA GGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0035 a0001c0001t0042g0035	1	322	0.0031	-57	c.27 others(68): Show c.2781_*2837delACACCCCCTCAGGGCAGGACCCCGTCCCCCCCTC AGACCCCTCAGGACAGGACCCGT	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1186		chr19	TogoVar
C4orf48_chr4_2036995_2048964	2047411	GGGCGCGG others(50): Show GGGCGCGGGGGCAACTGGGGCAGGGGCAGGGGTCTCCGGTGAGGAGGGCG CTCAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-57	c.34 others(68): Show c.3486_*3542delGGCGCGGGGGCAACTGGGGCAGGGGCAGGGGTCT CCGGTGAGGAGGGCGCTCAGGGA	C4orf48	ENSG00000243449.8	transcript	ENST00000409248.10	protein_coding		3448		chr4	TogoVar
C7orf50_chr7_992006_1143247	1041319	CGGGGAAG others(50): Show CGGGGAAGGGGGCCTGGGGTCCGCGCTGCGGGGAAGGGGGCCTGGGGTCC GCGCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0321 a0001c0001t0012g0321	1	326	0.0031	-57	c.130 others(76): Show c.130-31233_130-31177delTGCAGCGCGGACCCCAGGCCCCCTTC CCCGCAGCGCGGACCCCAGGCCCCCTTCCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1081696	CGCAGCCT others(50): Show CGCAGCCTGGGGGAGGGACAGGGAGGCCTCTCGAACCCATGGCTTTCTTC TGCCCACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00609.hp1 others(57): Show HG00099.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp2 NA18906.hp1 NA18973.hp2 NA19011.hp1 NA19030.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0002c0002t0003	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0053 others(57): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0242 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0003g0205 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0293 a0001c0001t0003g0307 a0001c0001t0005g0241 a0001c0001t0005g0260 a0001c0001t0005g0287 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0308 a0001c0001t0005g0314 a0001c0001t0006g0087 a0001c0001t0007g0118 a0001c0001t0007g0150 a0001c0001t0008g0116 a0001c0001t0008g0151 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0010g0119 a0001c0001t0011g0309 a0001c0001t0011g0311 a0001c0001t0012g0291 a0001c0001t0012g0292 a0001c0001t0012g0310 a0001c0001t0012g0312 a0001c0001t0012g0313 a0001c0001t0012g0321 a0001c0001t0014g0158 a0001c0001t0015g0319 a0001c0001t0015g0320 a0001c0001t0016g0100 a0001c0001t0016g0113 a0001c0001t0024g0115 a0002c0002t0003g0288 a0002c0002t0003g0300 a0002c0002t0003g0304 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323	60	326	0.1841	-57	c.129 others(76): Show c.129+45504_129+45560delAGTGGGCAGAAGAAAGCCATGGGTTC GAGAGGCCTCCCTGTCCCTCCCCCAGGCTGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48064646	TAAAAATC others(50): Show TAAAAATCACTGAAGAAAATTCAGCAAAAGGACCACTGATGAGCACTTAA TATAGTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	404	0.0025	-57	c.43 others(68): Show c.4375_*4431delAAAAATCACTGAAGAAAATTCAGCAAAAGGACCA CTGATGAGCACTTAATATAGTTA	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding		3350		chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318482	AAGGGAAA others(50): Show AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAA GGGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	324	0.0031	-57	c.835 others(74): Show c.835-7546_835-7490delCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49400890	ATATTCCA others(50): Show ATATTCCATGAACACAGAATAGTTGGTAATGGTTCAAGTGCCTTAGGCAA CAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	324	0.0031	-57	c.-31 others(76): Show c.-31-18006_-31-17950delCTTCTCTGTTGCCTAAGGCACTTGAA CCATTACCAACTATTCTGTGTTCATGGAATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CACNA1B_chr9_137872782_138129619	137900507	GTCTGTGT others(50): Show GTCTGTGTGTCTCTGTGTCCGTGTGTCCATGTCTGTGCTGTGTGTCTCTG TGTCTGTC	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0017 a0001c0019t0025 a0001c0019t0017 a0001c0019t0025	a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126 a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126	3	248	0.0121	-57	c.531 others(76): Show c.531-12671_531-12615delCTGTGTGTCTCTGTGTCCGTGTGTCC ATGTCTGTGCTGTGTGTCTCTGTGTCTGTCT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137921269	CGGGAGCA others(50): Show CGGGAGCAGAGTAAAGCGTTCGGAGAACATGGTCAGCACCACGGCCGCGC AGCATCCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0196 a0002c0001t0002g0196	1	248	0.0040	-57	c.966 others(74): Show c.966+3938_966+3994delGCCGCGCAGCATCCTGGGAGCAGAGTAA AGCGTTCGGAGAACATGGTCAGCACCACG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CALN1_chr7_71774491_72417338	72315158	TAATTTTT others(50): Show TAATTTTTAATAATAAACACAAAGTTAAAAAGTAATACTAAAGAAATAAA GGGATAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0130 a0001c0001t0049g0130	1	142	0.0070	-57	c.120 others(76): Show c.120-36405_120-36349delTTTATCCCTTTATTTCTTTAGTATTA CTTTTTAACTTTGTGTTTATTATTAAAAATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12691364	TATATATA others(50): Show TATATATATATATAAATATATATATATATATATATATATAAATATATATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG04204.hp2 HG03579.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0095 a0001c0001t0035 a0001c0001t0095	a0001c0001t0035g0145 a0001c0001t0095g0149 a0001c0001t0035g0145 a0001c0001t0095g0149	2	214	0.0094	-57	c.299 others(76): Show c.299+24555_299+24611delATATATATATATAAATATATATATAT ATATATATATATAAATATATATATATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691365	ATATATAT others(50): Show ATATATATATATAAATATATATATATATATATATATATAAATATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01168.hp2 others(14): Show HG00423.hp2 HG00621.hp2 HG01168.hp2 HG01261.hp1 HG01346.hp1 HG02040.hp1 HG02132.hp1 HG02155.hp2 HG02602.hp1 HG02698.hp2 HG02809.hp1 HG03471.hp1 HG03579.hp1 NA18953.hp2 NA18971.hp2 NA19057.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030 a0001c0001t0036 a0001c0001t0059 a0001c0001t0069 a0001c0001t0074 a0001c0001t0106 a0001c0002t0015 a0001c0002t0054	a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0003g0004 others(14): Show a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0003g0004 a0001c0001t0004g0025 a0001c0001t0005g0062 a0001c0001t0009g0100 a0001c0001t0017g0159 a0001c0001t0020g0158 a0001c0001t0030g0092 a0001c0001t0036g0125 a0001c0001t0059g0192 a0001c0001t0069g0044 a0001c0001t0074g0060 a0001c0001t0106g0109 a0001c0002t0015g0050 a0001c0002t0015g0069 a0001c0002t0054g0019	17	214	0.0794	-57	c.299 others(76): Show c.299+24557_299+24613delATATATATATAAATATATATATATAT ATATATATATAAATATATATATATATATATT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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