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
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	2	0.5000	-32	c.677 others(51): Show c.677-21831_677-21800delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPOPL_chr2_138496770_138578547	138505064	TTCACTTC others(25): Show TTCACTTCCTTGTTGATTTACTTTAGAGAAGAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02572.hp1 HG02896.hp2 others(1): Show HG00558.hp2 HG02572.hp1 HG02896.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0022 a0001c0001t0011 a0001c0001t0018 a0001c0001t0022	a0001c0001t0011g0348 a0001c0001t0011g0349 a0001c0001t0018g0023 others(1): Show a0001c0001t0011g0348 a0001c0001t0011g0349 a0001c0001t0018g0023 a0001c0001t0022g0022	4	370	0.0108	-32	c.-61 others(49): Show c.-61+2963_-61+2994delTACTTTAGAGAAGACTCACTTCCTTGTT GATT	SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPPL3_chr12_120757510_120909358	120852737	ATAATATA others(25): Show ATAATATATTTCATATATTATATCTATGTATAT	A A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA20129.hp2 NA19001.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0228 a0001c0001t0036g0224 a0001c0001t0002g0228 a0001c0001t0036g0224	2	318	0.0063	-32	c.24- others(49): Show c.24-41883_24-41852delATATACATAGATATAATATATGAAATAT ATTA	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED2_chr2_65305851_65437599	65338253	CTCTCCCT others(25): Show CTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	247	0.0040	-32	c.205 others(49): Show c.205-3512_205-3481delCGGGAGAGGGAGAGGGAGACGGGAGAGG GAGA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRR2A_chr1_153051120_153062512	153053811	CATAGAGA others(25): Show CATAGAGACAGGCAAAGATTTCATGAATAAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-32	c.26 others(43): Show c.2674_*2705delATCTTATTCATGAAATCTTTGCCTGTCTCTAT	SPRR2A	ENSG00000241794.2	transcript	ENST00000392653.3	protein_coding		2308		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359054	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG02970.hp2 others(2): Show HG02258.hp2 HG02818.hp2 HG02970.hp2 HG03579.hp2 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0022 a0002c0004t0007g0048 a0002c0004t0007g0049 others(1): Show a0002c0004t0007g0022 a0002c0004t0007g0048 a0002c0004t0007g0049 a0002c0004t0007g0060	5	34	0.1471	-32	c.56 others(43): Show c.5694_*5725delTATATATATATATATATATATATATATATATA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4032		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	9	0.1111	-32	c.-28 others(53): Show c.-282+25691_-282+25722delATATATATATATATATATATATAT ATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTBN1_chr2_54451327_54676446	54481391	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0244 a0001c0008t0005g0244	1	55	0.0182	-32	c.-48 others(51): Show c.-48+24892_-48+24923delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54533911	CACACACA others(25): Show CACACACACACACACACGCACGCACGCACACAA	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18954.hp1 NA18964.hp1 others(1): Show HG02083.hp2 NA18954.hp1 NA18964.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0122 a0001c0001t0002g0282 a0001c0001t0002g0338 others(1): Show a0001c0001t0002g0122 a0001c0001t0002g0282 a0001c0001t0002g0338 a0001c0002t0001g0090	4	368	0.0109	-32	c.148 others(49): Show c.148+7356_148+7387delACACACGCACGCACGCACACAAACACAC ACAC	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414955	CACACACA others(25): Show CACACACATATAGTGTGTATATAGTATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02080.hp2 HG02735.hp2 others(8): Show HG00621.hp2 HG02080.hp2 HG02735.hp2 HG03490.hp1 NA18940.hp2 NA18944.hp1 NA18956.hp2 NA18973.hp2 NA19012.hp2 NA19075.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0151 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0151 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0327 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0355 a0001c0001t0001g0356	11	312	0.0353	-32	c.233 others(51): Show c.2334-1694_2334-1663delATATACATACTATATACACACTATAT GTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRC_chr20_37341140_37411050	37373434	TACGCATA others(25): Show TACGCATATATACGCATATATGCATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp1 HG02897.hp1 HG01891.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0011 a0001c0004t0038 a0001c0002t0011 a0001c0004t0038	a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0004t0038g0068 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0004t0038g0068	3	279	0.0108	-32	c.-17 others(51): Show c.-173+8160_-173+8191delGCATATATACGCATATATGCATATAT ACACAC	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31583620	AAAAAAAA others(25): Show AAAAAAAAACAAAAAAAAAGCAAAAAAAAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(154): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0008 a0001c0001 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0002c0002t0001 a0005c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(144): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0293 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0002g0129 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0003g0200 a0001c0001t0012g0294 a0001c0001t0012g0305 a0001c0001t0014g0332 a0001c0001t0021g0233 a0001c0001t0025g0249 a0001c0001t0027g0268 a0002c0002t0001g0123 a0002c0002t0001g0125 a0005c0008t0001g0265	157	384	0.4089	-32	c.-27 others(43): Show c.-2752_-2721delGGTTTTTTTTTTGCTTTTTTTTTGTTTTTTTT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding		2683		chr2	TogoVar
SRGAP1_chr12_63839700_64167217	63983797	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20805.hp2 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0034 a0001c0010t0019 a0001c0002t0034 a0001c0010t0019	a0001c0002t0034g0001 a0001c0010t0019g0168 a0001c0002t0034g0001 a0001c0010t0019g0168	2	22	0.0909	-32	c.68- others(44): Show c.68-123_68-92delATATATATATATATATATATATATATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2_chr1_206198541_206469436	206372964	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18977.hp2 NA19058.hp2 HG02965.hp1 NA18977.hp2 NA19058.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0006 a0001c0003t0004 a0001c0003t0006	a0001c0003t0004g0074 a0001c0003t0006g0174 a0001c0003t0006g0178 a0001c0003t0004g0074 a0001c0003t0006g0174 a0001c0003t0006g0178	3	172	0.0174	-32	c.424 others(51): Show c.424-11017_424-10986delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP19_chr5_112856287_112874788	112872205	CTAAAAGT others(25): Show CTAAAAGTATGGTTGAAGGACCAGCAGCACTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0003 a0001c0002t0014g0003	1	406	0.0025	-32	c.46 others(43): Show c.4669_*4700delTAAAAGTATGGTTGAAGGACCAGCAGCACTGG	SRP19	ENSG00000153037.15	transcript	ENST00000505459.6	protein_coding		2418		chr5	TogoVar
SRP72_chr4_56462617_56508681	56502465	TTATATAT others(25): Show TTATATATATATATATATGTATATATATATACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0166 a0001c0001t0021g0166	1	338	0.0030	-32	c.62 others(41): Show c.621_*652delTGTATATATATATACATATATATATATATATA	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	19/19	621	INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK2_chr7_105111374_105393921	105170825	GAGAAAGA others(25): Show GAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	269	0.0037	-32	c.230 others(49): Show c.230-1592_230-1561delTTCTTTCTTTCTTTCTTTCTTCCTTTCT TTCT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170836	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01952.hp1 HG01975.hp2 others(9): Show HG01928.hp2 HG01952.hp1 HG01975.hp2 HG02040.hp1 HG02132.hp1 HG03130.hp1 HG03710.hp2 NA18747.hp1 NA18949.hp2 NA18954.hp1 NA18960.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0058 a0001c0001t0001g0131 a0001c0001t0001g0148 others(9): Show a0001c0001t0001g0058 a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0228 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0257 a0001c0001t0003g0157	12	141	0.0851	-32	c.230 others(49): Show c.230-1603_230-1572delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRRM4_chr12_118976541_119168051	119122276	CAGGAAGG others(25): Show CAGGAAGGCAGGAAGGCAGGAAGGAAGGAAGGA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0176 a0001c0019t0001g0176	1	324	0.0031	-32	c.515 others(47): Show c.515+164_515+195delCAGGAAGGCAGGAAGGAAGGAAGGAAGGAA GG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SS18_chr18_26011253_26095613	26013211	CCATATAT others(25): Show CCATATATCTAACATATACGCATATATAATACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	316	0.0032	-32	c.51 others(43): Show c.5111_*5142delTGTATTATATATGCGTATATGTTAGATATATG	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding		3041		chr18	TogoVar
SSBP2_chr5_81407804_81756097	81488009	TAATATAT others(25): Show TAATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00621.hp1 others(63): Show HG00099.hp1 HG00408.hp1 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02135.hp2 HG02145.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18943.hp1 NA18950.hp1 NA18957.hp1 NA18961.hp1 NA18972.hp1 NA18973.hp2 NA18982.hp1 NA18987.hp1 NA19043.hp1 NA19043.hp2 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0001c0001t0045 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0025 others(63): Show a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0116 a0001c0001t0004g0007 a0001c0001t0004g0038 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0005g0045 a0001c0001t0006g0028 a0001c0001t0006g0137 a0001c0001t0007g0167 a0001c0001t0007g0204 a0001c0001t0008g0130 a0001c0001t0008g0133 a0001c0001t0008g0134 a0001c0001t0008g0140 a0001c0001t0008g0146 a0001c0001t0009g0015 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0026 a0001c0001t0009g0035 a0001c0001t0011g0027 a0001c0001t0011g0032 a0001c0001t0011g0161 a0001c0001t0012g0018 a0001c0001t0012g0023 a0001c0001t0012g0040 a0001c0001t0012g0051 a0001c0001t0014g0195 a0001c0001t0014g0196 a0001c0001t0014g0197 a0001c0001t0017g0187 a0001c0001t0018g0192 a0001c0001t0019g0129 a0001c0001t0019g0135 a0001c0001t0021g0092 a0001c0001t0021g0181 a0001c0001t0025g0183 a0001c0001t0025g0186 a0001c0001t0026g0048 a0001c0001t0026g0190 a0001c0001t0027g0001 a0001c0001t0027g0147 a0001c0001t0028g0021 a0001c0001t0028g0031 a0001c0001t0029g0009 a0001c0001t0030g0065 a0001c0001t0030g0068 a0001c0001t0036g0039 a0001c0001t0045g0087 a0001c0001t0053g0203 a0001c0001t0054g0012 a0001c0001t0055g0120 a0001c0001t0057g0060 a0001c0001t0059g0200 a0001c0001t0062g0083 a0001c0001t0066g0037 a0001c0001t0067g0042 a0001c0001t0068g0043	66	204	0.3235	-32	c.432 others(49): Show c.432+1209_432+1240delTATATATATATATATATATATATATATA TATT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	6/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81488010	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp1 HG02145.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0050 a0001c0002t0016 a0001c0002t0050	a0001c0002t0016g0047 a0001c0002t0050g0046 a0001c0002t0016g0047 a0001c0002t0050g0046	2	135	0.0148	-32	c.432 others(49): Show c.432+1208_432+1239delATATATATATATATATATATATATATAT ATAT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	6/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81488028	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp1 HG01167.hp2 others(41): Show HG00099.hp2 HG01109.hp1 HG01167.hp2 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18953.hp2 NA18961.hp2 NA18984.hp1 NA18991.hp1 NA18992.hp2 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0046 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0069 a0001c0002t0052	a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0104 others(41): Show a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0104 a0001c0001t0002g0121 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0034 a0001c0001t0003g0071 a0001c0001t0003g0080 a0001c0001t0003g0177 a0001c0001t0005g0145 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0007g0100 a0001c0001t0007g0143 a0001c0001t0007g0198 a0001c0001t0018g0074 a0001c0001t0023g0089 a0001c0001t0023g0107 a0001c0001t0024g0036 a0001c0001t0033g0050 a0001c0001t0034g0141 a0001c0001t0034g0142 a0001c0001t0035g0154 a0001c0001t0035g0162 a0001c0001t0036g0033 a0001c0001t0042g0151 a0001c0001t0046g0075 a0001c0001t0058g0101 a0001c0001t0060g0109 a0001c0001t0061g0189 a0001c0001t0069g0199 a0001c0002t0052g0119	44	204	0.2157	-32	c.432 others(49): Show c.432+1190_432+1221delTTATATATATATATATATATATATATAT ATAT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	6/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81501212	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp2 HG03225.hp2 HG02615.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0008 a0001c0002t0013g0044 a0001c0002t0013g0194 a0001c0002t0013g0008 a0001c0002t0013g0044 a0001c0002t0013g0194	3	113	0.0265	-32	c.373 others(51): Show c.373-11935_373-11904delATATATATATATATATATATATATAT ATATAT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	5/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54225024	ACCCGAGG others(25): Show ACCCGAGGGGAGAAAGCAGGGAGTGGCTGTGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02572.hp1 others(7): Show HG02109.hp2 HG02145.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02886.hp2 HG02965.hp1 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0004t0002	a0001c0001t0002g0073 a0001c0001t0002g0116 a0001c0001t0002g0130 others(7): Show a0001c0001t0002g0073 a0001c0001t0002g0116 a0001c0001t0002g0130 a0001c0001t0002g0155 a0001c0001t0004g0139 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0004t0002g0078	10	278	0.0360	-32	c.20 others(43): Show c.2075_*2106delGCCACAGCCACTCCCTGCTTTCTCCCCTCGGG	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding		407		chr1	TogoVar
SSBP3_chr1_54220432_54411394	54240079	TGTGTGTG others(25): Show TGTGTGTGTGCGCGCGCGCGCGTGTGCGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	260	0.0038	-32	c.856 others(47): Show c.856+794_856+825delGCGCACGCACACGCGCGCGCGCGCACACAC AC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54240081	TGTGTGTG others(25): Show TGTGTGTGCGCGCGCGCGCGTGTGCGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	215	0.0047	-32	c.856 others(47): Show c.856+792_856+823delGCGCGCACGCACACGCGCGCGCGCGCACAC AC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
SSH1_chr12_108773191_108862583	108853851	GAGGCGGA others(25): Show GAGGCGGAGGTTGCAGTGAGCCGAGATTGCACC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0247 a0001c0002t0003g0247	1	330	0.0030	-32	c.70- others(47): Show c.70-1205_70-1174delGGTGCAATCTCGGCTCACTGCAACCTCCGC CT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	1/14			chr12	TogoVar
SSX4B_chrX_48397082_48416960	48414270	GGAAGGAA others(25): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	150	0.0067	-32	c.-24 others(43): Show c.-2461_-2430delTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTC	SSX4B	ENSG00000269791.6	transcript	ENST00000595235.6	protein_coding		2311		chrX	TogoVar
ST13_chr22_40819535_40861639	40821731	CATACATA others(25): Show CATACATATATATATACACGTATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	341	0.0029	-32	c.47 others(43): Show c.4775_*4806delATATATATATATACGTGTATATATATATGTAT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2803		chr22	TogoVar
ST13_chr22_40819535_40861639	40821760	ATATATAC others(25): Show ATATATACGTATATATATATACGTATATATACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	340	0.0029	-32	c.47 others(43): Show c.4746_*4777delCGTATATATACGTATATATATATACGTATATA	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2774		chr22	TogoVar
ST3GAL1_chr8_133449848_133576887	133551512	CAGAAAGA others(25): Show CAGAAAGAAAGAAAGAGAAAGAAAGAGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0036 a0001c0008t0036	a0001c0008t0036g0015 a0001c0008t0036g0015	1	323	0.0031	-32	c.-58 others(51): Show c.-581-5618_-581-5587delTTCCTTCTCTTTCTTTCTCTTTCTTT CTTTCT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	1/9			chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70425564	CTTGTTAA others(25): Show CTTGTTAAAAATTGAACGTTAGAATGTAAAATG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0197 a0001c0001t0028g0197	1	310	0.0032	-32	c.-10 others(55): Show c.-1004+13353_-1004+13384delCATTTTACATTCTAACGTTCAA TTTTTAACAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL4_chr11_126350686_126419638	126411615	GGGGGAAA others(25): Show GGGGGAAAATTTTGCTTCCAGGCTCATTCTTGT	G G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	322	0.0031	-32	c.772 others(49): Show c.772-1887_772-1856delGGAAAATTTTGCTTCCAGGCTCATTCTT GTGG	ST3GAL4	ENSG00000110080.20	transcript	ENST00000444328.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ST3GAL5_chr2_85832120_85893990	85892240	CATGTCAA others(25): Show CATGTCAAAAAGATTCTTTGGGATCCTCAGTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	368	0.0027	-32	c.-33 others(43): Show c.-3367_-3336delTTACTGAGGATCCCAAAGAATCTTTTTGACAT	ST3GAL5	ENSG00000115525.18	transcript	ENST00000638572.2	protein_coding		3251		chr2	TogoVar
ST7_chr7_116948501_117235176	117152177	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp2 NA19240.hp2 HG02970.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0002t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0002t0001g0044	3	88	0.0341	-32	c.963 others(51): Show c.963+13660_963+13691delTATATATATATATATATATATATATA TATATA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
STAMBP_chr2_73823961_73872168	73834222	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00735.hp1 others(9): Show HG00438.hp2 HG00621.hp1 HG00735.hp1 HG01952.hp1 HG01975.hp1 HG02071.hp1 HG02135.hp1 HG02273.hp2 NA18949.hp2 NA18966.hp1 NA18991.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0003 a0001c0002t0024 a0002c0004t0003 a0001c0002t0003 a0001c0002t0024 a0002c0004t0003	a0001c0002t0003g0001 a0001c0002t0003g0041 a0001c0002t0003g0058 others(6): Show a0001c0002t0003g0001 a0001c0002t0003g0041 a0001c0002t0003g0058 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0069 a0001c0002t0024g0063 a0002c0004t0003g0068	12	356	0.0337	-32	c.203 others(49): Show c.203+3165_203+3196delAAAAAAAAAAAAAATATATATATATATA TATA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STARD3NL_chr7_38173245_38235669	38225578	CTTGAAAA others(25): Show CTTGAAAAGACAACCTTTCCCCATTGTACTGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(190): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012	a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 others(119): Show a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0069 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0067 a0001c0001t0004g0127 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0265 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0005g0006 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0174 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0186 a0001c0001t0006g0001 a0001c0001t0006g0041 a0001c0001t0006g0158 a0001c0001t0006g0163 a0001c0001t0006g0266 a0001c0001t0007g0049 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0011g0150 a0001c0001t0012g0004	193	402	0.4801	-32	c.650 others(49): Show c.650-3216_650-3185delAAAGACAACCTTTCCCCATTGTACTGAT TTGA	STARD3NL	ENSG00000010270.14	transcript	ENST00000009041.12	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
STARD8_chrX_68642666_68730836	68643176	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02055.hp1 HG02647.hp1 others(2): Show HG01081.hp1 HG02055.hp1 HG02647.hp1 HG02886.hp2 HG02970.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0004 a0003c0002t0005 others(1): Show a0001c0001t0001 a0003c0002t0004 a0003c0002t0005 a0003c0002t0008	a0001c0001t0001g0045 a0001c0001t0001g0175 a0003c0002t0004g0176 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0175 a0003c0002t0004g0176 a0003c0002t0005g0174 a0003c0002t0008g0190	5	101	0.0495	-32	c.-47 others(43): Show c.-4706_-4675delTATATATATATATATATATATATATATATATA	STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding		4489		chrX	TogoVar
STAT5B_chr17_42194177_42281391	42262970	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	164	0.0061	-32	c.-11 others(51): Show c.-11+13246_-11+13277delTATATATATATATATATATATATATA TATATA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT6_chr12_57090408_57116362	57100680	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01070.hp1 others(7): Show HG00408.hp1 HG00438.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG02040.hp2 HG03688.hp1 NA18957.hp2 NA18980.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0024	a0001c0001t0005g0005 a0001c0001t0005g0207 a0001c0001t0005g0226 others(3): Show a0001c0001t0005g0005 a0001c0001t0005g0207 a0001c0001t0005g0226 a0001c0001t0009g0022 a0001c0001t0015g0032 a0001c0001t0024g0229	10	357	0.0280	-32	c.151 others(49): Show c.1513-622_1513-591delTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STAT6_chr12_57090408_57116362	57100684	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01123.hp1 others(15): Show HG00639.hp1 HG01099.hp2 HG01123.hp1 HG01255.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG02083.hp1 HG02559.hp2 HG02698.hp2 HG02922.hp1 HG02970.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03942.hp2 NA18906.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0023	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0028 others(6): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0002g0057 a0001c0001t0002g0085 a0001c0001t0006g0003 a0001c0001t0006g0191 a0001c0001t0015g0067 a0001c0001t0023g0033	18	352	0.0511	-32	c.151 others(49): Show c.1513-626_1513-595delTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STAT6_chr12_57090408_57116362	57100688	GAAAGAAA others(25): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01361.hp1 others(2): Show HG00735.hp2 HG00738.hp2 HG01361.hp1 HG01943.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0029 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0086	5	326	0.0153	-32	c.151 others(49): Show c.1513-630_1513-599delTTCTTTCTTTCTTTCTTTCTCTTTCTTT CTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STAT6_chr12_57090408_57116362	57100692	GAAAGAAA others(25): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01071.hp2 HG01175.hp2 others(16): Show HG00597.hp1 HG01071.hp2 HG01175.hp2 HG01516.hp1 HG01517.hp2 HG02040.hp1 HG02258.hp1 HG02486.hp1 HG02698.hp1 HG03579.hp2 NA18977.hp2 NA18983.hp1 NA18994.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19079.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0028	a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0195 others(10): Show a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0195 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0144 a0001c0001t0003g0151 a0001c0001t0003g0171 a0001c0001t0008g0213 a0001c0001t0010g0024 a0001c0001t0011g0068 a0001c0001t0028g0109	19	315	0.0603	-32	c.151 others(49): Show c.1513-634_1513-603delTTCTTTCTTTCTTTCTTTCTTTCTCTTT CTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STAU1_chr20_49108339_49193334	49108512	ACACACAC others(25): Show ACACACACACACACACACACACACCCCCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03540.hp2 HG02572.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0235 a0001c0001t0001g0241	2	364	0.0055	-32	c.63 others(43): Show c.6334_*6365delGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTG	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4826		chr20	TogoVar
STAU2_chr8_73415369_73751840	73546046	CTTCTCCT others(25): Show CTTCTCCTGCCTCAGTCTCCCAGTAGCTGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00597.hp2 others(57): Show HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01516.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 NA18612.hp1 NA18942.hp2 NA18946.hp2 NA18964.hp1 NA18966.hp1 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19060.hp2 NA19068.hp2 NA19079.hp2 NA19087.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0002c0002t0001 a0004c0005t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 others(57): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0004g0018 a0001c0003t0001g0015 a0001c0003t0001g0022 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0176 a0001c0003t0001g0225 a0002c0002t0001g0089 a0002c0002t0001g0165 a0002c0002t0001g0178 a0004c0005t0002g0227	60	238	0.2521	-32	c.153 others(51): Show c.1530+5934_1530+5965delATCCCAGCTACTGGGAGACTGAGGCA GGAGAA	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73605846	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	238	0.0042	-32	c.892 others(49): Show c.892-2015_892-1984delATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	9/14			chr8	TogoVar
STEAP1B_chr7_22414444_22505188	22489096	AGAAACCC others(25): Show AGAAACCCGAGTTCTCGCCATAGAGGCAGCATC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0330 a0002c0002t0001g0330	1	382	0.0026	-32	c.762 others(49): Show c.762+3437_762+3468delGATGCTGCCTCTATGGCGAGAACTCGGG TTTC	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STIM1_chr11_3850664_4098208	3895651	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG04228.hp2 NA18954.hp2 others(1): Show HG02071.hp2 HG04228.hp2 NA18954.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0023 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0023 a0001c0002t0024	a0001c0001t0001g0145 a0001c0002t0001g0101 a0001c0002t0023g0144 others(1): Show a0001c0001t0001g0145 a0001c0002t0001g0101 a0001c0002t0023g0144 a0001c0002t0024g0143	4	298	0.0134	-32	c.139 others(51): Show c.139+39266_139+39297delCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895675	CTTCCTTC others(25): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	163	0.0061	-32	c.139 others(51): Show c.139+39270_139+39301delCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar

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