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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TUBGCP2_chr10_133273635_133313872	133291569	CCGTGTCC others(40): Show CCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19010.hp1 NA18939.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0069 a0001c0002t0008g0054 a0001c0002t0003g0069 a0001c0002t0008g0054	2	284	0.0070	-47	c.121 others(64): Show c.1214+883_1214+929delCGGTGCATGCTGCCCTCTCCCGTACAGG TAGGGCTCCCCGGGACACG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291663	CCGTGTCC others(40): Show CCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02129.hp2 HG01261.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0001 a0001c0002t0003 a0001c0004t0001	a0001c0002t0003g0044 a0001c0004t0001g0056 a0001c0002t0003g0044 a0001c0004t0001g0056	2	284	0.0070	-47	c.121 others(64): Show c.1214+789_1214+835delCGGTGCATGCTGCCCTCTCCCGTACAGG TAGGGCTCCCCGGGACACG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291852	CTGTGTCC others(40): Show CTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01978.hp2 others(6): Show HG01261.hp1 HG01261.hp2 HG01978.hp2 HG02015.hp2 HG02129.hp2 HG02451.hp1 HG03831.hp2 NA18964.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0004t0001 a0001c0007t0003	a0001c0001t0001g0220 a0001c0001t0002g0166 a0001c0002t0003g0044 others(6): Show a0001c0001t0001g0220 a0001c0001t0002g0166 a0001c0002t0003g0044 a0001c0002t0003g0053 a0001c0002t0003g0055 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0004t0001g0056 a0001c0007t0003g0050	9	284	0.0317	-47	c.121 others(64): Show c.1214+600_1214+646delCGGTGCATGCTGCCCTCTCCCGTACAGG TAGGGCTCCCCGGGACACA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291954	TCCCCGTG others(40): Show TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA21309.hp2 HG02004.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0059 a0001c0002t0003g0055 a0001c0002t0003g0059	2	284	0.0070	-47	c.121 others(64): Show c.1214+498_1214+544delTGCGTGCTGCCCTCTCCCGTACAGGTAG GGCTCCCCGGGACACGGGG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292213	CCCGTGTC others(40): Show CCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18939.hp2 HG01106.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0156 a0001c0002t0003g0069 a0001c0001t0001g0156 a0001c0002t0003g0069	2	284	0.0070	-47	c.121 others(64): Show c.1214+239_1214+285delTGTGCATGCTGCCCTCTCCCGTACAGGT AGGGCTCCCCGGGACACGG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292298	CCCGTGTC others(40): Show CCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18990.hp1 NA19030.hp1 HG02257.hp1 NA18990.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0180 a0001c0001t0001g0217 a0001c0004t0002g0035 a0001c0001t0001g0180 a0001c0001t0001g0217 a0001c0004t0002g0035	3	284	0.0106	-47	c.121 others(64): Show c.1214+154_1214+200delTGTGCATGCTGCCCTCTCCCGTACAGGT AGGGCTCCCCGGGACACGG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292383	CCCGTGTC others(40): Show CCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp2 HG03225.hp1 HG02258.hp2 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0104	3	284	0.0106	-47	c.121 others(63): Show c.1214+69_1214+115delTGTGCATGCTGCCCTCTCCCGTACAGGTA GGGCTCCCCGGGACACGG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TXK_chr4_48061393_48139250	48104449	ATATATAT others(40): Show ATATATATAATATATAATATTATATATTATATATATAATATATAATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	362	0.0028	-47	c.501 others(62): Show c.501+405_501+451delATATTATATATTATATATATAATATATAAT ATTATATATTATATATA	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TXK_chr4_48061393_48139250	48104495	ATTATATA others(40): Show ATTATATATTATATATATAATATATAATATTATATATTATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	362	0.0028	-47	c.501 others(62): Show c.501+359_501+405delAAATATATATAATATATAATATTATATATT ATATATATAATATATAA	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TXNDC16_chr14_52425596_52557505	52529504	TATATAAT others(40): Show TATATAATGCCTATTATATATATTATATATAATGCCTATTATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18612.hp1 HG00642.hp1 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0015 a0002c0003t0002 a0002c0003t0015	a0002c0003t0002g0010 a0002c0003t0015g0060 a0002c0003t0002g0010 a0002c0003t0015g0060	2	238	0.0084	-47	c.392 others(64): Show c.392+7168_392+7214delTTATATATAATAGGCATTATATATAATA TATATAATAGGCATTATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TYMS_chr18_652653_678578	667231	GGAGATGG others(40): Show GGAGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0164 a0001c0002t0005g0164	1	482	0.0021	-47	c.455 others(64): Show c.455-1839_455-1793delAGATGGAGATGGTGATGGTGATGGTGAT GGAGATGGTGATGGTGATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667233	AGATGGAG others(40): Show AGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	482	0.0021	-47	c.455 others(64): Show c.455-1833_455-1787delAGATGGTGATGGTGATGGTGATGGAGAT GGTGATGGTGATGGGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667245	TGATGGTG others(40): Show TGATGGTGATGGTGATGGAGATGGTGATGGTGATGGGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18953.hp1 HG00423.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0354 a0001c0001t0007g0355 a0001c0001t0007g0354 a0001c0001t0007g0355	2	482	0.0042	-47	c.455 others(64): Show c.455-1809_455-1763delAGATGGTGATGGTGATGGGATGGTGATG GAGATGGTGATGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBR1_chr15_42937897_43111038	43014768	ACCCCGTC others(40): Show ACCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCTGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp2 HG02970.hp2 HG03139.hp2	a0001 a0001	a0001c0016 a0001c0021 a0001c0016 a0001c0021	a0001c0016t0001 a0001c0021t0003 a0001c0016t0001 a0001c0021t0003	a0001c0016t0001g0114 a0001c0021t0003g0112 a0001c0016t0001g0114 a0001c0021t0003g0112	2	276	0.0073	-47	c.320 others(64): Show c.3209+873_3209+919delCGGCTGGCCGGGCAGGGGCTGACCCCCC ACCTCCCTCCCGGACGGGG	UBR1	ENSG00000159459.12	transcript	ENST00000290650.9	protein_coding	29/46			chr15	TogoVar
UBTD1_chr10_97493924_97576206	97528580	CCCCCACC others(40): Show CCCCCACCTCCCTCCCGAACGGGGCGGCTGGCCGGGCGGGGGGCTGAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	314	0.0032	-47	c.70+ others(64): Show c.70+29312_70+29358delACCTCCCTCCCGAACGGGGCGGCTGGCC GGGCGGGGGGCTGAACCCC	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
UBTD2_chr5_172204646_172288764	172234855	CCATGATC others(40): Show CCATGATCATGCCACTGCACTTCAGCCTGGGCGAGAGTGAAACCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(130): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0001t0027 a0001c0001t0033 a0001c0003t0009 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0019 others(128): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0124 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0003g0243 a0001c0001t0009g0001 a0001c0001t0009g0026 a0001c0001t0009g0029 a0001c0001t0011g0216 a0001c0001t0011g0226 a0001c0001t0011g0229 a0001c0001t0011g0255 a0001c0001t0011g0256 a0001c0001t0021g0225 a0001c0001t0021g0227 a0001c0001t0027g0259 a0001c0001t0033g0208 a0001c0003t0009g0027 a0001c0003t0009g0028 a0001c0004t0001g0209 a0001c0006t0001g0185	133	374	0.3556	-47	c.71- others(60): Show c.71-544_71-498delATGAGGTTTCACTCTCGCCCAGGCTGAAGTGC AGTGGCATGATCATG	UBTD2	ENSG00000168246.6	transcript	ENST00000393792.3	protein_coding	1/2			chr5	TogoVar
UBXN11_chr1_26277282_26311636	26308677	TGTCACCT others(40): Show TGTCACCTTGCTCATGGAGATAAGCAAGCGTGGGAAGCAGGAGCTCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0034 a0010c0011t0001g0034	1	370	0.0027	-47	c.-21 others(58): Show c.-2168_-2122delCAGAGCTCCTGCTTCCCACGCTTGCTTATCTCCA TGAGCAAGGTGAC	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding		2042		chr1	TogoVar
UCN2_chr3_48556718_48568781	48564056	AAACAGTC others(40): Show AAACAGTCACAACAGGAGCCTTTTAAAACAGCAGCTTTAATGCCCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	302	0.0033	-47	c.-41 others(56): Show c.-413_-367delGGGGGGCATTAAAGCTGCTGTTTTAAAAGGCTCCTG TTGTGACTGTT	UCN2	ENSG00000145040.4	transcript	ENST00000273610.4	protein_coding		276		chr3	TogoVar
UNC13B_chr9_35157009_35410335	35257323	AAAAATAT others(40): Show AAAAATATTTATATAAATATTTATAAAAATATTTATATAAATATTTAT	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18998.hp2 NA18951.hp2 NA18998.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0025 a0006c0008t0002g0057 a0006c0008t0002g0025 a0006c0008t0002g0057	2	224	0.0089	-47	c.469 others(64): Show c.469-1618_469-1572delTATTTATATAAATATTTATAAAAATATT TATATAAATATTTATAAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC79_chr14_93425939_93712876	93667177	AGAGGGAG others(40): Show AGAGGGAGAGAAGGAGGGAAGGAAGGAAGGACAAAGGAAGGAACAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 HG03471.hp2 others(1): Show HG02257.hp2 HG02970.hp1 HG03471.hp2 NA18522.hp1	a0006 a0009 a0006 a0009	a0006c0013 a0009c0032 a0006c0013 a0009c0032	a0006c0013t0001 a0006c0013t0002 a0009c0032t0001 a0006c0013t0001 a0006c0013t0002 a0009c0032t0001	a0006c0013t0001g0044 a0006c0013t0002g0045 a0006c0013t0002g0046 others(1): Show a0006c0013t0001g0044 a0006c0013t0002g0045 a0006c0013t0002g0046 a0009c0032t0001g0182	4	193	0.0207	-47	c.696 others(66): Show c.6969+4491_6969+4537delGGACAAAGGAAGGAACAAAGGAGGGA GAGAAGGAGGGAAGGAAGGAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UPK3BL1_chr7_102632025_102647791	102635136	TTGCTATG others(40): Show TTGCTATGTTGCCCAGGCTGGACTTGAACTCTTGGTCTCAAGCAATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0016 a0009c0007t0016	a0009c0007t0016g0093 a0009c0007t0016g0093	1	140	0.0071	-47	c.23 others(58): Show c.2342_*2388delGGATTGCTTGAGACCAAGAGTTCAAGTCCAGCCT GGGCAACATAGCA	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		1888		chr7	TogoVar
UST_chr6_148742030_149081990	148910009	ATTTAATG others(40): Show ATTTAATGATTTGGAAGTTTGCTTCTTGTTATTGGAACTTAGCATTAG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	210	0.0048	-47	c.291 others(66): Show c.291+22984_291+23030delAATGATTTGGAAGTTTGCTTCTTGTT ATTGGAACTTAGCATTAGTTT	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VAMP7_chrX_155876345_155948769	155877397	TCACAATA others(40): Show TCACAATATCATGTCACTTCACCTAAAAGGTGAAGAATCTACAATAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	184	0.0054	-47	c.-40 others(58): Show c.-4060_-4014delCACAATATCATGTCACTTCACCTAAAAGGTGAAG AATCTACAATAAC	VAMP7	ENSG00000124333.16	transcript	ENST00000286448.12	protein_coding		3947		chrX	TogoVar
VAPB_chr20_58384229_58456101	58414180	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCTGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0058 a0001c0001t0006g0058	1	370	0.0027	-47	c.59- others(62): Show c.59-4025_59-3979delACCTCCCTCCCTGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCC	VAPB	ENSG00000124164.16	transcript	ENST00000475243.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
VCAM1_chr1_100714742_100744045	100741486	GGGGAAAC others(40): Show GGGGAAACATCTATTAAAACCCATCACCCAAATTTTTATCAGGTTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0142 a0005c0007t0001g0142	1	446	0.0022	-47	c.32 others(58): Show c.3204_*3250delGGGAAACATCTATTAAAACCCATCACCCAAATTT TTATCAGGTTGTT	VCAM1	ENSG00000162692.12	transcript	ENST00000294728.7	protein_coding		2442		chr1	TogoVar
VCX3B_chrX_8459830_8471510	8466708	AGGGAGGA others(40): Show AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0006 a0015c0015t0006	a0015c0015t0006g0009 a0015c0015t0006g0009	1	271	0.0037	-47	c.32 others(56): Show c.326_*372delGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		199		chrX	TogoVar
VEZT_chr12_95212807_95307799	95235635	ACCTCCCG others(40): Show ACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0019 a0001c0001t0001g0020	2	426	0.0047	-47	c.37- others(64): Show c.37-16295_37-16249delTGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCACCTCCCTCCCGGA	VEZT	ENSG00000028203.19	transcript	ENST00000436874.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
VPS53_chr17_503668_719839	660638	GGAAGGAC others(40): Show GGAAGGACGAGGGCCCCTGGGTGCTGCTGGGTGTGGTGCATCCTTGGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp1 HG00741.hp2 others(86): Show HG00423.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA18960.hp2 NA18961.hp1 NA18967.hp2 NA18978.hp2 NA18983.hp2 NA18987.hp2 NA18994.hp2 NA19000.hp2 NA19009.hp2 NA19010.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19087.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0014 a0001c0015 a0006c0012 a0007c0013	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(61): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0069 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0127 a0001c0001t0128 a0001c0001t0134 a0001c0001t0138 a0001c0001t0141 a0001c0002t0050 a0001c0002t0078 a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 a0001c0005t0042 a0001c0005t0044 a0001c0005t0045 a0001c0005t0046 a0001c0007t0011 a0001c0007t0012 a0001c0007t0023 a0001c0007t0062 a0001c0007t0070 a0001c0014t0135 a0001c0015t0126 a0006c0012t0129 a0007c0013t0132	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(86): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0011g0013 a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0016g0118 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0017g0158 a0001c0001t0028g0196 a0001c0001t0028g0197 a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0030g0119 a0001c0001t0030g0120 a0001c0001t0031g0153 a0001c0001t0031g0155 a0001c0001t0032g0114 a0001c0001t0032g0204 a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0034g0126 a0001c0001t0034g0162 a0001c0001t0069g0012 a0001c0001t0084g0046 a0001c0001t0087g0198 a0001c0001t0088g0152 a0001c0001t0094g0129 a0001c0001t0095g0145 a0001c0001t0096g0146 a0001c0001t0097g0199 a0001c0001t0098g0147 a0001c0001t0101g0200 a0001c0001t0102g0220 a0001c0001t0105g0201 a0001c0001t0106g0117 a0001c0001t0107g0212 a0001c0001t0108g0148 a0001c0001t0110g0127 a0001c0001t0111g0164 a0001c0001t0112g0157 a0001c0001t0113g0122 a0001c0001t0114g0142 a0001c0001t0115g0136 a0001c0001t0116g0138 a0001c0001t0117g0230 a0001c0001t0118g0195 a0001c0001t0119g0144 a0001c0001t0120g0211 a0001c0001t0121g0143 a0001c0001t0122g0160 a0001c0001t0123g0123 a0001c0001t0127g0159 a0001c0001t0128g0132 a0001c0001t0134g0154 a0001c0001t0138g0161 a0001c0001t0141g0165 a0001c0002t0050g0049 a0001c0002t0078g0041 a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 a0001c0005t0020g0005 a0001c0005t0020g0010 a0001c0005t0042g0044 a0001c0005t0044g0096 a0001c0005t0045g0009 a0001c0005t0046g0011 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0108 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0023g0107 a0001c0007t0023g0109 a0001c0007t0062g0104 a0001c0007t0070g0112 a0001c0014t0135g0166 a0001c0015t0126g0149 a0006c0012t0129g0140 a0007c0013t0132g0163	89	232	0.3836	-47	c.372 others(64): Show c.372+1124_372+1170delACCAAGGATGCACCACACCCAGCAGCAC CCAGGGGCCCTCGTCCTTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	5/21			chr17	TogoVar
VPS53_chr17_503668_719839	690731	AAAAAATC others(40): Show AAAAAATCTCAGCAAATCCAAGGTAATGGAAGAACAATGTCTACAATC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18747.hp2 NA18955.hp2 others(2): Show HG01074.hp2 NA18747.hp2 NA18955.hp2 NA18984.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 a0001c0002 a0001c0005 a0001c0011	a0001c0002t0001 a0001c0002t0065 a0001c0002t0077 others(2): Show a0001c0002t0001 a0001c0002t0065 a0001c0002t0077 a0001c0005t0080 a0001c0011t0051	a0001c0002t0001g0094 a0001c0002t0065g0093 a0001c0002t0077g0095 others(2): Show a0001c0002t0001g0094 a0001c0002t0065g0093 a0001c0002t0077g0095 a0001c0005t0080g0092 a0001c0011t0051g0091	5	232	0.0216	-47	c.285 others(64): Show c.285+6640_285+6686delGATTGTAGACATTGTTCTTCCATTACCT TGGATTTGCTGAGATTTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
WDFY4_chr10_48679873_48987956	48787864	CTTCTTTC others(40): Show CTTCTTTCTTCTTTCTTTCTTCTTCTTCTCCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0034 a0034	a0034c0033 a0034c0033	a0034c0033t0004 a0034c0033t0004	a0034c0033t0004g0106 a0034c0033t0004g0117 a0034c0033t0004g0106 a0034c0033t0004g0117	2	202	0.0099	-47	c.380 others(64): Show c.3809-665_3809-619delTTCTTTCTTCTTTCTTTCTTCTTCTTCT CCTTCTTCTTCTTCTTCTT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	20/61			chr10	TogoVar
WDR33_chr2_127696027_127816171	127788202	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCAGGCAGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp2 HG02809.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0152 a0001c0004t0011g0153 a0001c0004t0011g0152 a0001c0004t0011g0153	2	318	0.0063	-47	c.-23 others(66): Show c.-23-17245_-23-17199delTCAGCCCCCTGCCTGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGG	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	1/21			chr2	TogoVar
WDR62_chr19_36049897_36110108	36069032	ACCCCCAC others(40): Show ACCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGCTAAC	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	420	0.0024	-47	c.882 others(64): Show c.882+1038_882+1084delTGGACGGGGCGGCTGGCCGGGCGGGGGC TAACCCCCCACCTCCCTCC	WDR62	ENSG00000075702.19	transcript	ENST00000401500.7	protein_coding	7/31		INFO_REALIGN_3_PRIME	chr19	TogoVar
WWC2_chr4_183094257_183325777	183164304	ATATATAT others(40): Show ATATATATTATATATACATATATATATATATATACATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0242 a0001c0001t0037g0242	1	242	0.0041	-47	c.132 others(66): Show c.132-29294_132-29248delTATATATTATATATACATATATATAT ATATATACATATATATATTAT	WWC2	ENSG00000151718.16	transcript	ENST00000403733.8	protein_coding	1/22			chr4	TogoVar
WWP2_chr16_69757332_69946739	69912974	ATATATAT others(40): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp1 HG03139.hp1 others(1): Show HG02647.hp2 HG02976.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 a0001c0002 a0001c0005 a0001c0011	a0001c0002t0005 a0001c0002t0013 a0001c0005t0001 others(1): Show a0001c0002t0005 a0001c0002t0013 a0001c0005t0001 a0001c0011t0005	a0001c0002t0005g0298 a0001c0002t0013g0003 a0001c0005t0001g0235 others(1): Show a0001c0002t0005g0298 a0001c0002t0013g0003 a0001c0005t0001g0235 a0001c0011t0005g0305	4	314	0.0127	-47	c.100 others(66): Show c.1004+4126_1004+4172delATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912976	ATATATAT others(40): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00735.hp1 others(23): Show HG00408.hp2 HG00423.hp2 HG00735.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01516.hp1 HG02027.hp2 HG02083.hp2 HG02132.hp1 HG02630.hp2 HG02738.hp2 HG03041.hp1 HG03669.hp1 HG03927.hp1 HG03927.hp2 NA18942.hp1 NA18969.hp1 NA18971.hp2 NA18979.hp2 NA18984.hp2 NA18988.hp2 NA19056.hp1 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0002t0003 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0011 a0001c0005t0001 a0001c0011t0004 a0001c0014t0005	a0001c0001t0001g0208 a0001c0002t0003g0061 a0001c0002t0003g0200 others(23): Show a0001c0001t0001g0208 a0001c0002t0003g0061 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0230 a0001c0004t0001g0180 a0001c0004t0001g0194 a0001c0004t0001g0195 a0001c0004t0001g0196 a0001c0004t0001g0197 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0213 a0001c0004t0001g0216 a0001c0004t0001g0221 a0001c0004t0001g0224 a0001c0004t0001g0229 a0001c0004t0001g0234 a0001c0004t0011g0306 a0001c0005t0001g0160 a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0011t0004g0307 a0001c0014t0005g0304	26	314	0.0828	-47	c.100 others(66): Show c.1004+4128_1004+4174delATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912978	ATATATAT others(40): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG02040.hp2 others(12): Show HG00423.hp1 HG00609.hp2 HG02040.hp2 HG02080.hp2 NA18941.hp2 NA18943.hp1 NA18952.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA19009.hp2 NA19012.hp2 NA19068.hp2 NA19083.hp2 NA20905.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0008c0016 a0009c0015	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0008c0016t0002 a0009c0015t0001	a0001c0001t0001g0181 a0001c0004t0001g0202 a0001c0004t0001g0222 others(12): Show a0001c0001t0001g0181 a0001c0004t0001g0202 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0005t0001g0045 a0001c0005t0001g0119 a0001c0005t0001g0120 a0001c0005t0001g0164 a0001c0005t0001g0165 a0001c0005t0001g0166 a0001c0005t0001g0168 a0001c0005t0001g0169 a0001c0005t0001g0170 a0008c0016t0002g0211 a0009c0015t0001g0088	15	314	0.0478	-47	c.100 others(66): Show c.1004+4130_1004+4176delATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912980	ATATATAT others(40): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19080.hp1 NA19085.hp2 NA19070.hp2 NA19080.hp1 NA19085.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0010 a0001c0005t0001 a0001c0005t0010	a0001c0005t0001g0167 a0001c0005t0010g0284 a0001c0005t0010g0285 a0001c0005t0001g0167 a0001c0005t0010g0284 a0001c0005t0010g0285	3	314	0.0096	-47	c.100 others(66): Show c.1004+4132_1004+4178delATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912982	ATATATAT others(40): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	314	0.0032	-47	c.100 others(66): Show c.1004+4134_1004+4180delATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
XYLB_chr3_38341785_38419985	38389551	AGACGGGG others(40): Show AGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02622.hp2 others(2): Show HG01167.hp2 HG01169.hp2 HG02622.hp2 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0330 a0001c0001t0003g0336 others(2): Show a0001c0001t0003g0234 a0001c0001t0003g0330 a0001c0001t0003g0336 a0001c0001t0003g0338 a0001c0001t0003g0339	5	358	0.0140	-47	c.129 others(66): Show c.1292-5934_1292-5888delCGGGGGCTGACCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGG	XYLB	ENSG00000093217.11	transcript	ENST00000207870.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
YJU2_chr19_4242080_4274088	4247583	GTGTGTGT others(40): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp2 NA19001.hp1 HG02055.hp1 HG02976.hp2 NA19001.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0011 a0001c0002 a0004c0011	a0001c0002t0001 a0004c0011t0001 a0001c0002t0001 a0004c0011t0001	a0001c0002t0001g0156 a0001c0002t0001g0158 a0004c0011t0001g0157 a0001c0002t0001g0156 a0001c0002t0001g0158 a0004c0011t0001g0157	3	384	0.0078	-47	c.24+ others(60): Show c.24+414_24+460delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGT	YJU2	ENSG00000105248.16	transcript	ENST00000262962.12	protein_coding	1/7			chr19	TogoVar
YPEL2_chr17_59326655_59406729	59383588	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0098 a0001c0001t0016g0098	1	350	0.0029	-47	c.118 others(64): Show c.118-4737_118-4691delAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATA	YPEL2	ENSG00000175155.11	transcript	ENST00000312655.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZAN_chr7_100728595_100802797	100741871	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0306 a0012c0023t0001g0306	1	308	0.0033	-47	c.766 others(64): Show c.766+3264_766+3310delACCTCCCTCCCGGATGGCACGGCTGGCC GGGCGGGGGGCTGACCCCC	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZDHHC19_chr3_196192452_196216400	196207606	TCAGGCCC others(40): Show TCAGGCCCGACTCCGCCCCGAGCCCCGCCCCGCCCCTGGCCCCGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp1 HG03579.hp1 others(2): Show HG03209.hp1 HG03486.hp1 HG03579.hp1 NA19030.hp1 NA20129.hp1	a0003 a0007 a0003 a0007	a0003c0005 a0007c0011 a0003c0005 a0007c0011	a0003c0005t0002 a0007c0011t0002 a0003c0005t0002 a0007c0011t0002	a0003c0005t0002g0294 a0003c0005t0002g0296 a0003c0005t0002g0297 others(2): Show a0003c0005t0002g0294 a0003c0005t0002g0296 a0003c0005t0002g0297 a0003c0005t0002g0298 a0007c0011t0002g0295	5	442	0.0113	-47	c.582 others(62): Show c.582-150_582-104delGGGGCGGGGCCAGGGGCGGGGCGGGGCTCG GGGCGGAGTCGGGCCTG	ZDHHC19	ENSG00000163958.14	transcript	ENST00000296326.8	protein_coding	4/7			chr3	TogoVar
ZFAND3_chr6_37814727_38159624	38041743	TCCTCCTC others(40): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0203 a0001c0001t0035g0203	1	318	0.0031	-47	c.113 others(66): Show c.113-19849_113-19803delCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCTTCTTTC	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	2/5			chr6	TogoVar
ZFAND3_chr6_37814727_38159624	38041755	TCCTCCTC others(40): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTTCTTCTTCTTCTCC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18980.hp1 NA19068.hp2 NA18974.hp1 NA18980.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010	a0001c0001t0002g0068 a0001c0001t0008g0070 a0001c0001t0010g0067 a0001c0001t0002g0068 a0001c0001t0008g0070 a0001c0001t0010g0067	3	318	0.0094	-47	c.113 others(66): Show c.113-19837_113-19791delCCTCCTCCTCCTCCTCCTCCTCCTCC TCTTCTTTCTTCTTCTTCTCC	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	2/5			chr6	TogoVar
ZFAND3_chr6_37814727_38159624	38041756	CCTCCTCC others(40): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTTCTTCTTCTTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	318	0.0031	-47	c.113 others(66): Show c.113-19834_113-19788delCCTCCTCCTCCTCCTCCTCCTCCTCT TCTTTCTTCTTCTTCTCCTCT	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
ZMAT3_chr3_179012223_179076809	179031957	CCCCCTCC others(40): Show CCCCCTCCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0318 a0001c0001t0033g0318	1	350	0.0029	-47	c.271 others(63): Show c.271-1005_271-959delAGGGGGAGGAGGAGGGGGAGGAGGAGGGG GAGGGGGAGGAGGAGGGG	ZMAT3	ENSG00000172667.11	transcript	ENST00000311417.7	protein_coding	2/5			chr3	TogoVar
ZMAT3_chr3_179012223_179076809	179031963	CCTCCTCC others(40): Show CCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01169.hp2 others(8): Show HG00735.hp1 HG01167.hp1 HG01169.hp2 HG01433.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02717.hp1 HG03130.hp2 HG04199.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0183 others(7): Show a0001c0001t0001 a0001c0001t0044 a0001c0001t0183 a0001c0001t0200 a0001c0001t0244 a0001c0001t0245 a0001c0001t0246 a0001c0001t0247 a0001c0001t0248 a0001c0001t0249	a0001c0001t0001g0320 a0001c0001t0044g0003 a0001c0001t0183g0097 others(7): Show a0001c0001t0001g0320 a0001c0001t0044g0003 a0001c0001t0183g0097 a0001c0001t0200g0102 a0001c0001t0244g0096 a0001c0001t0245g0100 a0001c0001t0246g0101 a0001c0001t0247g0043 a0001c0001t0248g0099 a0001c0001t0249g0098	11	350	0.0314	-47	c.271 others(63): Show c.271-1011_271-965delAGGGGGAGGGGGAGGAGGAGGGGGAGGAG GAGGGGGAGGGGGAGGAG	ZMAT3	ENSG00000172667.11	transcript	ENST00000311417.7	protein_coding	2/5			chr3	TogoVar
ZMAT4_chr8_40525590_40902826	40601504	AGAAAGAG others(40): Show AGAAAGAGAAAGAGAAAGAAAGAGGGAGAAAGGGGAAGGGGGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	228	0.0044	-47	c.578 others(66): Show c.578-20290_578-20244delCTCACTCCCCCTTCCCCTTTCTCCCT CTTTCTTTCTCTTTCTCTTTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZNF487_chr10_43432111_43488181	43460572	TCACCATC others(40): Show TCACCATCTTGACCAGGCTGGTCTTGAACTCCTGACCTCAGATGCCAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02486.hp1 others(9): Show HG01891.hp2 HG02109.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0149	12	332	0.0361	-47	c.-93 others(66): Show c.-93-15147_-93-15101delACCATCTTGACCAGGCTGGTCTTGAA CTCCTGACCTCAGATGCCACC	ZNF487	ENSG00000243660.12	transcript	ENST00000437590.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 916 hits)