Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPRY3_chrX_155607586_155787459	155767705	AAGAGGAG others(26): Show AAGAGGAGGAGGAGAAAGAGGAGGAGGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02683.hp2 HG01255.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0134 a0001c0001t0098 a0001c0001t0134	a0001c0001t0098g0139 a0001c0001t0134g0113 a0001c0001t0098g0139 a0001c0001t0134g0113	2	231	0.0087	-33	c.-28 others(50): Show c.-281-243_-281-211delAAAGAGGAGGAGGAGGAGAGAGAGGAGG AGGAG		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTB_chr14_64741283_64884907	64881849	TAATTTTC others(26): Show TAATTTTCAACCATAAGAAAAAATTAATATGATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0059 a0002c0013t0001g0059	1	268	0.0037	-33	c.-21 others(44): Show c.-2142_-2110delTATCATATTAATTTTTTCTTATGGTTGAAAATT		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding					1943		chr14	TogoVar
SRD5A2_chr2_31517480_31585938	31583619	AAAAAAAA others(26): Show AAAAAAAAAACAAAAAAAAAGCAAAAAAAAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02622.hp1 NA18962.hp1 HG01109.hp2 HG02622.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0178 a0001c0001t0001g0344 a0001c0001t0004g0343 a0001c0001t0001g0178 a0001c0001t0001g0344 a0001c0001t0004g0343	3	386	0.0078	-33	c.-27 others(44): Show c.-2752_-2720delGGTTTTTTTTTTGCTTTTTTTTTGTTTTTTTTT		SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding					2682		chr2	TogoVar
SREBF1_chr17_17806334_17841986	17808386	ATTATTTT others(26): Show ATTATTTTATTTTATTTTATTTTATTTTATTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0169 a0001c0001t0040g0169	1	352	0.0028	-33	c.42 others(44): Show c.4203_*4235delAATAATAAAATAAAATAAAATAAAATAAAATAA		SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding					2947		chr17	TogoVar
SREBF2_chr22_41828105_41912305	41908243	GATTCCTT others(26): Show GATTCCTTTGTGAGTCTGTGTAGGCTCCATGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0319 a0001c0001t0015g0319	1	336	0.0030	-33	c.25 others(44): Show c.2584_*2616delATTCCTTTGTGAGTCTGTGTAGGCTCCATGCCT		SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding					939		chr22	TogoVar
SRGAP2B_chr1_144882288_145100328	144883850	TGGGGGGG others(26): Show TGGGGGGGGGGGAGGGGGGGAAGCCGCGGCGGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02615.hp2 HG01346.hp2 HG02615.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0013 a0008c0007t0018 a0001c0001t0013 a0008c0007t0018	a0001c0001t0013g0025 a0008c0007t0018g0001 a0001c0001t0013g0025 a0008c0007t0018g0001	2	56	0.0357	-33	c.82 others(44): Show c.8277_*8309delCGCCGCCGCGGCTTCCCCCCCTCCCCCCCCCCC		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					3437		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239256	ATATATAT others(26): Show ATATATATATACTATATATATATATACTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03540.hp2 HG01884.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0260 a0001c0003t0004g0261 a0001c0003t0004g0260 a0001c0003t0004g0261	2	274	0.0073	-33	c.68- others(50): Show c.68-45546_68-45514delTATATATATACTATATATATATATACTA TATAT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9						chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396118	CACCCCGC others(26): Show CACCCCGCCGCTTTTTGCACCCCGCCGCTTTTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG04228.hp1 HG03492.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0205 a0001c0001t0001g0215	2	274	0.0073	-33	c.82 others(44): Show c.8264_*8296delACCCCGCCGCTTTTTGCACCCCGCCGCTTTTTG		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding					3245		chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372951	CTTTCTTT others(26): Show CTTTCTTTTCTTTCCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0130 a0001c0006t0009g0130	1	182	0.0055	-33	c.424 others(52): Show c.424-11062_424-11030delTTTCTTTTCTTTCCTTTCTTTCTTTC TTTCTTT		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22						chr1	TogoVar
SRP54_chr14_34977992_35034567	35007641	ATAATAAA others(26): Show ATAATAAAATATATTTACATAAAATAGATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(201): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0003 a0002c0004t0003	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(197): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0375 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0002g0382 a0001c0001t0002g0383 a0001c0001t0002g0384 a0001c0001t0002g0385 a0001c0001t0002g0386 a0001c0001t0002g0387 a0001c0001t0002g0388 a0001c0001t0002g0389 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0006g0251 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0198 a0002c0004t0003g0220	204	396	0.5152	-33	c.360 others(48): Show c.360+258_360+290delTAAAATATATTTACATAAAATAGATTTTAT TAA		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35017353	GTTTTCCT others(26): Show GTTTTCCTTGGTTCCTAATATTTAAGTGTTTTCT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	396	0.0025	-33	c.974 others(50): Show c.974-1338_974-1306delTTTTCCTTGGTTCCTAATATTTAAGTGT TTTCT		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	11/15						chr14	TogoVar
ST3GAL2_chr16_70370977_70444100	70408890	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0210 a0001c0001t0008g0210	1	312	0.0032	-33	c.-10 others(54): Show c.-1003-9390_-1003-9358delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6						chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43906541	TTCCTCCT others(26): Show TTCCTCCTGTTCCTCTTCCCGCCACTCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	274	0.0037	-33	c.744 others(50): Show c.744+6833_744+6865delCGCCACTCTTCCTCCTCCTCCTGTTCCT CTTCC		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GAL1_chr3_186925526_187083553	186984743	CCTCCCTC others(26): Show CCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0257 a0001c0002t0022g0257	1	362	0.0028	-33	c.-18 others(54): Show c.-183+20818_-183+20850delCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCT		ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7						chr3	TogoVar
ST8SIA1_chr12_22188391_22339707	22320987	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18612.hp2 HG02683.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0150 a0001c0001t0051 a0001c0001t0150	a0001c0001t0051g0089 a0001c0001t0150g0077 a0001c0001t0051g0089 a0001c0001t0150g0077	2	282	0.0071	-33	c.236 others(52): Show c.236+12977_236+13009delTTCTTTCTTTCTTTCTTCTTTCTTTC TTTCTTT		ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	1/4						chr12	TogoVar
ST8SIA1_chr12_22188391_22339707	22320995	GAAAGAAA others(26): Show GAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA20129.hp2 HG02572.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0167 a0001c0002t0180 a0001c0001t0167 a0001c0002t0180	a0001c0001t0167g0267 a0001c0002t0180g0266 a0001c0001t0167g0267 a0001c0002t0180g0266	2	282	0.0071	-33	c.236 others(52): Show c.236+12969_236+13001delTTCTTTCTTTCTTTCTTTCTTTCTTC TTTCTTT		ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	1/4						chr12	TogoVar
ST8SIA5_chr18_46662821_46762053	46725982	TATATATA others(26): Show TATATATATATATATATATATATATATATCCTGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01258.hp1 HG01433.hp1 others(13): Show HG01109.hp1 HG01258.hp1 HG01433.hp1 HG01928.hp2 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02300.hp2 HG03688.hp1 NA18960.hp2 NA18964.hp1 NA18979.hp1 NA18993.hp1 NA19058.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0035 a0001c0001t0053 a0001c0001t0089 a0001c0001t0120 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127	a0001c0001t0002g0161 a0001c0001t0004g0305 a0001c0001t0007g0292 others(13): Show a0001c0001t0002g0161 a0001c0001t0004g0305 a0001c0001t0007g0292 a0001c0001t0007g0299 a0001c0001t0007g0300 a0001c0001t0007g0302 a0001c0001t0007g0303 a0001c0001t0007g0304 a0001c0001t0007g0312 a0001c0001t0035g0113 a0001c0001t0053g0112 a0001c0001t0089g0017 a0001c0001t0120g0330 a0001c0001t0125g0313 a0001c0001t0126g0306 a0001c0001t0127g0301	16	362	0.0442	-33	c.132 others(52): Show c.132-21351_132-21319delCCAGGATATATATATATATATATATA TATATAT		ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6						chr18	TogoVar
STAU2_chr8_73415369_73751840	73605884	CACACACA others(26): Show CACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	240	0.0042	-33	c.892 others(50): Show c.892-2054_892-2022delTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGT		STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	9/14						chr8	TogoVar
STK24_chr13_98440185_98582107	98536855	TGCCACAC others(26): Show TGCCACACTCCTCCGCCTGTCCTCCAGCCGCCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(35): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00558.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01891.hp1 HG02015.hp2 HG02056.hp1 HG02109.hp1 HG02486.hp1 HG02615.hp1 HG02698.hp1 HG02723.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG04115.hp2 NA18939.hp1 NA18940.hp2 NA18950.hp1 NA18971.hp2 NA19009.hp2 NA19082.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0008 a0001c0001t0034 others(21): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0061 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0005t0036	a0001c0001t0005g0289 a0001c0001t0005g0296 a0001c0001t0005g0297 others(35): Show a0001c0001t0005g0289 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0300 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0008g0190 a0001c0001t0034g0282 a0001c0001t0034g0283 a0001c0001t0035g0314 a0001c0001t0035g0315 a0001c0001t0036g0301 a0001c0001t0037g0285 a0001c0001t0037g0287 a0001c0001t0061g0180 a0001c0001t0084g0298 a0001c0001t0085g0312 a0001c0001t0086g0295 a0001c0001t0088g0318 a0001c0001t0089g0291 a0001c0001t0090g0292 a0001c0001t0091g0313 a0001c0001t0092g0286 a0001c0001t0093g0293 a0001c0001t0094g0307 a0001c0001t0095g0308 a0001c0001t0096g0305 a0001c0001t0097g0294 a0001c0001t0098g0290 a0001c0001t0099g0288 a0001c0001t0100g0319 a0001c0005t0036g0306	38	322	0.1180	-33	c.43- others(50): Show c.43-17415_43-17383delTGGGCGGCTGGAGGACAGGCGGAGGAGT GTGGC		STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	1/10						chr13	TogoVar
STK25_chr2_241487670_241513584	241497864	CGACTCCC others(26): Show CGACTCCCACCCTCTCCTGACTCTGAGGGCCTGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0234 a0001c0001t0039g0234	1	446	0.0022	-33	c.103 others(50): Show c.1033-210_1033-178delACAGGCCCTCAGAGTCAGGAGAGGGTGG GAGTC		STK25	ENSG00000115694.15	transcript	ENST00000316586.9	protein_coding	9/11						chr2	TogoVar
STK25_chr2_241487670_241513584	241497927	CTGTGACT others(26): Show CTGTGACTCCCACCCTCTCCTGACTCTGAGGGCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00639.hp2 others(36): Show HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01175.hp2 HG01256.hp2 HG01433.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02080.hp2 HG02273.hp1 HG02293.hp1 NA18942.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18976.hp1 NA18981.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19070.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0022 a0001c0001t0004 a0001c0001t0016 a0001c0001t0022	a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0012 others(18): Show a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0004g0015 a0001c0001t0004g0035 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0118 a0001c0001t0004g0154 a0001c0001t0004g0183 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0016g0074 a0001c0001t0022g0066	39	446	0.0874	-33	c.103 others(50): Show c.1033-273_1033-241delAGCCCTCAGAGTCAGGAGAGGGTGGGAG TCACA		STK25	ENSG00000115694.15	transcript	ENST00000316586.9	protein_coding	9/11						chr2	TogoVar
STK32A_chr5_147230026_147392855	147260168	TCTCTCTC others(26): Show TCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18906.hp1 HG02717.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0017 a0001c0002t0015 a0001c0002t0017	a0001c0002t0015g0139 a0001c0002t0017g0138 a0001c0002t0015g0139 a0001c0002t0017g0138	2	316	0.0063	-33	c.53- others(50): Show c.53-17933_53-17901delCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTC		STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
STK32B_chr4_5046480_5505989	5100643	TTTCTCTC others(26): Show TTTCTCTCTTTCTCTTTCATTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp2 NA19240.hp2 HG02486.hp2 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0006 a0001c0005t0008 a0001c0001t0001 a0001c0001t0006 a0001c0005t0008	a0001c0001t0001g0007 a0001c0001t0006g0046 a0001c0005t0008g0015 a0001c0001t0001g0007 a0001c0001t0006g0046 a0001c0005t0008g0015	3	170	0.0177	-33	c.53- others(50): Show c.53-39261_53-39229delTTCTCTCTTTCTCTTTCATTCTTTCTTT CTTTC		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11						chr4	TogoVar
STK32C_chr10_132202492_132312950	132205955	GCAGCCAA others(26): Show GCAGCCAACATCCAGGGCGGGACAGAGGCCCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp2 others(42): Show HG00099.hp1 HG00423.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01884.hp2 HG02015.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02451.hp2 HG02523.hp2 HG02630.hp2 HG02723.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG04115.hp2 HG04204.hp2 NA18939.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp2 NA18998.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19065.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010	a0001c0001t0002 a0001c0001t0017 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0017 a0001c0002t0002 a0001c0006t0002 a0001c0008t0002 a0001c0010t0002	a0001c0001t0002g0033 a0001c0001t0002g0121 a0001c0001t0002g0123 others(42): Show a0001c0001t0002g0033 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0167 a0001c0001t0002g0198 a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0239 a0001c0001t0002g0266 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0315 a0001c0001t0017g0074 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0127 a0001c0002t0002g0139 a0001c0002t0002g0150 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0192 a0001c0002t0002g0217 a0001c0002t0002g0249 a0001c0002t0002g0291 a0001c0002t0002g0317 a0001c0006t0002g0016 a0001c0006t0002g0036 a0001c0006t0002g0042 a0001c0006t0002g0056 a0001c0006t0002g0173 a0001c0006t0002g0186 a0001c0006t0002g0339 a0001c0008t0002g0267 a0001c0008t0002g0319 a0001c0010t0002g0076 a0001c0010t0002g0126 a0001c0010t0002g0279	45	368	0.1223	-33	c.20 others(44): Show c.2022_*2054delGGGGGGCCTCTGTCCCGCCCTGGATGTTGGCTG		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding					1536		chr10	TogoVar
STK32C_chr10_132202492_132312950	132298631	CCGGGGAG others(26): Show CCGGGGAGTTGAGCGCCGTGTGTGGGGTCACTGG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA20129.hp2 HG02717.hp1 NA20129.hp2	a0001 a0001	a0001c0011 a0001c0014 a0001c0011 a0001c0014	a0001c0011t0011 a0001c0014t0001 a0001c0011t0011 a0001c0014t0001	a0001c0011t0011g0357 a0001c0014t0001g0008 a0001c0011t0011g0357 a0001c0014t0001g0008	2	368	0.0054	-33	c.262 others(50): Show c.262+8908_262+8940delCCAGTGACCCCACACACGGCGCTCAACT CCCCG		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11						chr10	TogoVar
STK33_chr11_8386870_8599228	8553168	ATATATAT others(26): Show ATATATATATATATATATATATATATATATGGTG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0149 a0001c0001t0021g0149	1	334	0.0030	-33	c.-46 others(54): Show c.-466+40882_-466+40914delCACCATATATATATATATATATAT ATATATATA		STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15						chr11	TogoVar
STK38L_chr12_27239286_27330959	27241591	TTATATAT others(26): Show TTATATATATTACATATATGACTCTGTATAGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00544.hp1 others(84): Show HG00099.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01123.hp2 HG01346.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02615.hp2 HG02683.hp2 HG02717.hp1 HG03195.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0001g0061 others(81): Show a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0062 a0001c0001t0002g0116 a0001c0001t0002g0144 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0003g0045 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0143 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0006g0124 a0001c0001t0006g0232 a0001c0001t0007g0234 a0001c0001t0007g0235 a0001c0001t0007g0237	87	374	0.2326	-33	c.-27 others(44): Show c.-2752_-2720delTATATATATTACATATATGACTCTGTATAGTTA		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding					2694		chr12	TogoVar
STK38_chr6_36488892_36552479	36549348	TCTTCTTC others(26): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0310 a0001c0001t0006g0311	2	398	0.0050	-33	c.-21 others(44): Show c.-2197_-2165delGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG		STK38	ENSG00000112079.9	transcript	ENST00000229812.8	protein_coding					1870		chr6	TogoVar
STK38_chr6_36488892_36552479	36549354	TCTTCTTC others(26): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00673.hp1 others(45): Show HG00597.hp1 HG00609.hp1 HG00673.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02273.hp2 HG02300.hp1 HG03041.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp1 NA18946.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18979.hp2 NA18985.hp2 NA18988.hp1 NA18998.hp2 NA19010.hp1 NA19011.hp1 NA19064.hp2 NA19074.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021	a0001c0001t0001g0171 a0001c0001t0001g0243 a0001c0001t0001g0244 others(45): Show a0001c0001t0001g0171 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0267 a0001c0001t0013g0374 a0001c0001t0013g0375 a0001c0001t0017g0169 a0001c0001t0021g0326	48	398	0.1206	-33	c.-22 others(44): Show c.-2203_-2171delGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAG		STK38	ENSG00000112079.9	transcript	ENST00000229812.8	protein_coding					1876		chr6	TogoVar
STON1_chr2_48525154_48603513	48564462	TTCTTCTT others(26): Show TTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	376	0.0027	-33	c.-47 others(52): Show c.-47-16123_-47-16091delCTTCTTCTTCTTCTTCTTTCTTCTTC TTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564468	TTCTTCTT others(26): Show TTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	376	0.0027	-33	c.-47 others(52): Show c.-47-16117_-47-16085delCTTCTTCTTCTTTCTTCTTCTTCTTC TTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564471	TTCTTCTT others(26): Show TTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	376	0.0027	-33	c.-47 others(52): Show c.-47-16114_-47-16082delCTTCTTCTTTCTTCTTCTTCTTCTTC TTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STPG1_chr1_24351999_24418782	24378072	AGTTGGAC others(26): Show AGTTGGACTGCCCAGTATAGTAGCCACAGGTTGC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02976.hp2 HG02572.hp1 HG02630.hp2 HG02976.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0005c0007 a0001c0005 a0005c0007	a0001c0005t0005 a0005c0007t0001 a0001c0005t0005 a0005c0007t0001	a0001c0005t0005g0135 a0005c0007t0001g0303 a0005c0007t0001g0304 a0001c0005t0005g0135 a0005c0007t0001g0303 a0005c0007t0001g0304	3	358	0.0084	-33	c.462 others(50): Show c.462+1548_462+1580delGCAACCTGTGGCTACTATACTGGGCAGT CCAAC		STPG1	ENSG00000001460.18	transcript	ENST00000337248.9	protein_coding	5/8						chr1	TogoVar
STRA6_chr15_74174466_74207787	74177551	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTACAGCAACCTGAGCGGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02970.hp2 HG01109.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	2	360	0.0056	-33	c.24 others(44): Show c.2496_*2528delGCACCGCTCAGGTTGCTGTACACACACACACAC		STRA6	ENSG00000137868.19	transcript	ENST00000395105.9	protein_coding					1914		chr15	TogoVar
STRADA_chr17_63697832_63746799	63737469	TTATAGAA others(26): Show TTATAGAACACAATGTAAATGCCTTCAAATTTGA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02559.hp1 others(7): Show HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0224 a0001c0001t0001g0225 others(7): Show a0001c0001t0001g0199 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0297	10	324	0.0309	-33	c.-45 others(50): Show c.-45+4239_-45+4271delTCAAATTTGAAGGCATTTACATTGTGTT CTATA		STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12						chr17	TogoVar
STRBP_chr9_123116617_123273586	123271104	TGCAGAAA others(26): Show TGCAGAAAATTATTTATCTGTAATGTGTATGTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0193 a0001c0002t0016g0193	1	236	0.0042	-33	c.-30 others(44): Show c.-3003_-2971delCAACATACACATTACAGATAAATAATTTTCTGC		STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding					2519		chr9	TogoVar
STRN_chr2_36832698_36971536	36845883	AAACACAC others(26): Show AAACACACACACACACACACACACGCATGCATGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02004.hp2 HG01496.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0134 a0001c0001t0122 a0001c0001t0134	a0001c0001t0122g0044 a0001c0001t0134g0041 a0001c0001t0122g0044 a0001c0001t0134g0041	2	302	0.0066	-33	c.35 others(44): Show c.3540_*3572delGCATGCATGCGTGTGTGTGTGTGTGTGTGTGTT		STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	18/18				3540		chr2	TogoVar
STT3B_chr3_31527925_31642616	31572026	ATATTAAT others(26): Show ATATTAATATATGATATATTAATATATCATATAT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18991.hp2 NA19065.hp2 NA18975.hp2 NA18991.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0102 a0001c0001t0001g0169 a0001c0001t0001g0170	3	342	0.0088	-33	c.315 others(50): Show c.315-4367_315-4335delTTAATATATGATATATTAATATATCATA TATTA		STT3B	ENSG00000163527.10	transcript	ENST00000295770.4	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
STX16_chr20_58646283_58684526	58648334	CGTGCTGC others(26): Show CGTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02572.hp2 others(8): Show HG02257.hp1 HG02572.hp1 HG02572.hp2 HG03017.hp1 HG03130.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0002t0001 a0001c0002t0021 a0001c0002t0030 a0001c0002t0052 a0001c0002t0053	a0001c0001t0002g0001 a0001c0001t0004g0021 a0001c0001t0004g0162 others(8): Show a0001c0001t0002g0001 a0001c0001t0004g0021 a0001c0001t0004g0162 a0001c0001t0014g0026 a0001c0002t0001g0167 a0001c0002t0021g0055 a0001c0002t0021g0160 a0001c0002t0030g0261 a0001c0002t0030g0262 a0001c0002t0052g0228 a0001c0002t0053g0229	11	384	0.0287	-33	c.-36 others(44): Show c.-3672_-3640delGTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACG		STX16	ENSG00000124222.23	transcript	ENST00000371141.8	protein_coding					2948		chr20	TogoVar
STX16_chr20_58646283_58684526	58648565	CGTGCTGC others(26): Show CGTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	384	0.0026	-33	c.-34 others(44): Show c.-3441_-3409delGTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACG		STX16	ENSG00000124222.23	transcript	ENST00000371141.8	protein_coding					2717		chr20	TogoVar
STXBP5_chr6_147199417_147395473	147372406	CCTTTTTT others(26): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01891.hp1 others(5): Show HG00738.hp2 HG01081.hp1 HG01891.hp1 HG02109.hp2 HG02809.hp1 HG03139.hp1 HG03225.hp1 NA18946.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0214 a0002c0002t0002g0033 a0002c0002t0002g0132 others(5): Show a0001c0001t0001g0214 a0002c0002t0002g0033 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0158 a0002c0002t0002g0171	8	350	0.0229	-33	c.308 others(52): Show c.3082-1324_3082-1292delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	25/27						chr6	TogoVar
STYK1_chr12_10613923_10679052	10675072	TCAATTAA others(26): Show TCAATTAAAGAAATAAGAGTCATAGGTAACTTGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02027.hp2 others(15): Show HG00621.hp2 HG00673.hp1 HG02027.hp2 HG02056.hp1 HG02129.hp2 HG02523.hp2 NA18612.hp1 NA18944.hp1 NA18966.hp1 NA18981.hp1 NA18989.hp1 NA18989.hp2 NA18999.hp1 NA19002.hp1 NA19007.hp1 NA19063.hp1 NA19074.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0202 a0001c0001t0001g0235 a0001c0001t0001g0241 others(15): Show a0001c0001t0001g0202 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0002g0142 a0001c0001t0002g0164 a0001c0001t0002g0239 a0001c0001t0003g0153 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0165 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0010g0236 a0001c0001t0015g0158 a0001c0001t0023g0203 a0002c0002t0001g0242 a0002c0002t0002g0166	18	368	0.0489	-33	c.-13 others(44): Show c.-1334_-1302delTCAAGTTACCTATGACTCTTATTTCTTTAATTG		STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding					1021		chr12	TogoVar
STYX_chr14_52725166_52779989	52755442	GTCCTGAA others(26): Show GTCCTGAATTCTTTGAAGTTGTTACCACCTAAAT	G G	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	370	0.0027	-33	c.243 others(50): Show c.243-1108_243-1076delTCCTGAATTCTTTGAAGTTGTTACCACC TAAAT		STYX	ENSG00000198252.12	transcript	ENST00000354586.5	protein_coding	4/10						chr14	TogoVar
SUB1_chr5_32580557_32609079	32598158	TCCTCCGG others(26): Show TCCTCCGGCCTCAGCCTCCTGAGTAGCTGGGATC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	446	0.0022	-33	c.196 others(48): Show c.196-802_196-770delCCTCCGGCCTCAGCCTCCTGAGTAGCTGGG ATC		SUB1	ENSG00000113387.12	transcript	ENST00000265073.9	protein_coding	3/4						chr5	TogoVar
SUGP2_chr19_18985893_19038517	19037588	ACTCCTGG others(26): Show ACTCCTGGCCTCATGTGATCCTTCCGCCTCGGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0244 a0002c0002t0002g0244	1	302	0.0033	-33	c.-41 others(44): Show c.-4196_-4164delGGCCGAGGCGGAAGGATCACATGAGGCCAGGAG		SUGP2	ENSG00000064607.17	transcript	ENST00000452918.7	protein_coding					4072		chr19	TogoVar
SULF1_chr8_69487847_69665912	69617402	TATATATA others(26): Show TATATATATATATATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01433.hp2 HG00280.hp2 HG00741.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0077 a0001c0001t0002g0141 a0001c0001t0006g0129 a0001c0001t0001g0077 a0001c0001t0002g0141 a0001c0001t0006g0129	3	296	0.0101	-33	c.137 others(52): Show c.1378-3632_1378-3600delATATATATATATATATATATATATAT ATATATG		SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22						chr8	TogoVar
SUPT20HL1_chrX_24355639_24372839	24364293	TGCTGCTG others(26): Show TGCTGCTGCTGCTGCTGCTCCTGCTCCTGCTCTA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01074.hp1 HG02897.hp2 HG01074.hp1 HG02897.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0005 a0027c0027t0005	a0027c0027t0005g0000 a0027c0027t0005g0000	2	316	0.0063	-33	c.154 others(42): Show c.1549_1581delGCTCCTGCTCCTGCTCTAGCTGCTGCTGCTGCT	p.Ala others(13): Show p.Ala517_Ala527del	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding	1/1	3671/7201	1549/2664	517/887		INFO_REALIGN_3_PRIME	chrX	TogoVar
SVEP1_chr9_110360248_110584741	110384269	GGGTGGGA others(26): Show GGGTGGGAGCTCTGCTTGCCCCATGTGGCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0341 a0005c0005t0003g0341	1	362	0.0028	-33	c.102 others(54): Show c.10237+1596_10237+1628delTGGGAGCCACATGGGGCAAGCAGA GCTCCCACC		SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	43/47						chr9	TogoVar
SVEP1_chr9_110360248_110584741	110390420	TCCATCGA others(26): Show TCCATCGATGACACCCAACACTTAGGTTGACTCC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0079 a0079	a0079c0097 a0079c0097	a0079c0097t0004 a0079c0097t0004	a0079c0097t0004g0124 a0079c0097t0004g0124	1	362	0.0028	-33	c.982 others(50): Show c.9823-866_9823-834delGGAGTCAACCTAAGTGTTGGGTGTCATC GATGG		SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47						chr9	TogoVar
SWI5_chr9_128271276_128293989	128291978	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02040.hp2 HG03516.hp2 others(3): Show HG01891.hp2 HG02040.hp2 HG03516.hp2 NA18944.hp1 NA18990.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0090 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0003g0048 a0001c0001t0003g0201	6	386	0.0155	-33	c.32 others(44): Show c.3263_*3295delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding					2990		chr9	TogoVar

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Search Results (Total: 2438 hits)