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
UNC5A_chr5_176805559_176885898	176870990	CCCACACC others(25): Show CCCACACCACAGCTTCCCATCTGCCCACACTCG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	268	0.0037	-32	c.886 others(47): Show c.886+459_886+490delACACCACAGCTTCCCATCTGCCCACACTCG CC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5D_chr8_35230475_35801540	35300446	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0030 a0002c0005t0017g0030	1	64	0.0156	-32	c.103 others(51): Show c.103+64576_103+64607delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35538395	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0055 a0001c0002t0006g0055	1	64	0.0156	-32	c.104 others(51): Show c.104-10883_104-10852delATATATATATATATATATATATATAT ATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93615735	AAAAAAAA others(25): Show AAAAAAAAAAAGAAAAGAAGAAAAGAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 NA18522.hp1 HG02257.hp2 HG02970.hp1 NA18522.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0002 a0006c0013t0001 a0006c0013t0002	a0006c0013t0001g0044 a0006c0013t0002g0045 a0006c0013t0002g0046 a0006c0013t0001g0044 a0006c0013t0002g0045 a0006c0013t0002g0046	3	193	0.0155	-32	c.410 others(51): Show c.4108-1379_4108-1348delAAAGAAAAGAAGAAAAGAAGAAAAGA AAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	28/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660537	ATATATAT others(25): Show ATATATATATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0008 a0001c0009t0001g0008	1	193	0.0052	-32	c.685 others(51): Show c.6858+1278_6858+1309delATATATATATATATATATATATATAT GTGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209821130	GCTGTCAG others(25): Show GCTGTCAGGTTTAGTTTTATTCTGAAGCCTCTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG01175.hp2 others(26): Show HG00642.hp2 HG01123.hp1 HG01175.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp2 HG02083.hp1 HG02145.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp1 HG03540.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18991.hp1 NA19003.hp1 NA19062.hp2 NA19240.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0012	a0001c0003 a0001c0004 a0001c0007 others(10): Show a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0001c0013 a0001c0023 a0001c0024 a0001c0026 a0001c0029 a0001c0048 a0002c0025 a0011c0027 a0012c0028	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(15): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0001c0007t0003 a0001c0012t0001 a0001c0013t0002 a0001c0013t0011 a0001c0023t0002 a0001c0024t0001 a0001c0026t0006 a0001c0029t0001 a0001c0048t0001 a0002c0025t0001 a0011c0027t0001 a0012c0028t0008	a0001c0003t0001g0078 a0001c0003t0002g0011 a0001c0003t0002g0012 others(26): Show a0001c0003t0001g0078 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0084 a0001c0003t0002g0086 a0001c0003t0006g0021 a0001c0003t0006g0089 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0032 a0001c0004t0001g0082 a0001c0004t0001g0088 a0001c0004t0001g0139 a0001c0004t0002g0083 a0001c0007t0001g0035 a0001c0007t0001g0038 a0001c0007t0003g0023 a0001c0012t0001g0044 a0001c0012t0001g0077 a0001c0013t0002g0184 a0001c0013t0011g0182 a0001c0023t0002g0097 a0001c0024t0001g0081 a0001c0026t0006g0034 a0001c0029t0001g0045 a0001c0048t0001g0046 a0002c0025t0001g0036 a0011c0027t0001g0033 a0012c0028t0008g0037	29	188	0.1543	-32	c.233 others(49): Show c.2331+454_2331+485delGTCAGGTTTAGTTTTATTCTGAAGCCTC TTCT	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	13/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955692	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02027.hp1 HG02040.hp2 HG00597.hp2 HG02027.hp1 HG02040.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0049 a0001c0001 a0004c0049	a0001c0001t0001 a0004c0049t0002 a0001c0001t0001 a0004c0049t0002	a0001c0001t0001g0068 a0001c0001t0001g0133 a0004c0049t0002g0132 a0001c0001t0001g0068 a0001c0001t0001g0133 a0004c0049t0002g0132	3	188	0.0160	-32	c.745 others(51): Show c.7457+1438_7457+1469delTATATATATATATATATATATATATA TATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955718	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0015 a0015	a0015c0052 a0015c0052	a0015c0052t0003 a0015c0052t0003	a0015c0052t0003g0150 a0015c0052t0003g0150	1	188	0.0053	-32	c.745 others(51): Show c.7457+1450_7457+1481delTATATATATATATATATATACACACA CACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPF3A_chr13_114276601_114310817	114295302	GCTGGCCT others(25): Show GCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	450	0.0022	-32	c.847 others(49): Show c.847-3509_847-3478delAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	AGCTCTGG others(25): Show AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp2 HG03579.hp2 HG02258.hp2 HG03139.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0407 a0002c0002t0001g0028 a0002c0002t0001g0407	3	450	0.0067	-32	c.847 others(49): Show c.847-3500_847-3469delCTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	CTGCTCCC others(25): Show CTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00673.hp1 others(36): Show HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01256.hp1 HG01496.hp1 HG01884.hp2 HG01952.hp2 HG01981.hp2 HG02135.hp2 HG02280.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18947.hp2 NA18950.hp1 NA18955.hp2 NA18971.hp1 NA18972.hp1 NA19011.hp2 NA19043.hp1 NA19066.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0015	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0007c0008 a0015c0017	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0003c0003t0001 a0007c0008t0001 a0015c0017t0011	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0041 others(33): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0295 a0001c0001t0004g0177 a0002c0002t0001g0026 a0002c0002t0001g0057 a0002c0002t0001g0203 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0232 a0002c0002t0001g0379 a0002c0002t0001g0381 a0002c0002t0001g0382 a0002c0002t0001g0389 a0003c0003t0001g0194 a0007c0008t0001g0130 a0015c0017t0011g0361	39	450	0.0867	-32	c.847 others(49): Show c.847-3436_847-3405delGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPK3BL1_chr7_102632025_102647791	102639965	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAGG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0111 a0004c0005t0012g0111	1	140	0.0071	-32	c.485 others(47): Show c.485+207_485+238delCCTTTTCTTCTTCTTCTTTTTTTTTTTTTT TT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding	3/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102540874	AAAGAAGA others(25): Show AAAGAAGAAAAGGAAAAAAAAAAAAAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp2 HG01069.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0104 a0001c0001t0009g0112 a0001c0001t0009g0104 a0001c0001t0009g0112	2	182	0.0110	-32	c.485 others(47): Show c.485+187_485+218delCTTCTCTTTTTTTTTTTTTTCCTTTTCTTC TT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	3/5			chr7	TogoVar
URI1_chr19_29937239_30021612	29944140	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00609.hp1 others(68): Show HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01358.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02922.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG04204.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19066.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19087.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 a0001c0001 a0002c0002 a0002c0009	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0014 a0002c0009t0002	a0001c0001t0001g0079 a0002c0002t0002g0261 a0002c0002t0002g0262 others(68): Show a0001c0001t0001g0079 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0021 a0002c0002t0004g0019 a0002c0002t0004g0020 a0002c0002t0004g0257 a0002c0002t0004g0258 a0002c0002t0004g0260 a0002c0002t0007g0256 a0002c0002t0007g0259 a0002c0002t0014g0286 a0002c0009t0002g0310	71	328	0.2165	-32	c.117 others(49): Show c.117+1498_117+1529delTATATATATATATATATATATATATATA TATA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG03195.hp1 others(1): Show HG02145.hp2 HG03130.hp1 HG03195.hp1 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0007 a0003c0003t0001 a0003c0003t0006 a0002c0002t0007 a0003c0003t0001 a0003c0003t0006	a0002c0002t0007g0259 a0003c0003t0001g0036 a0003c0003t0006g0004 others(1): Show a0002c0002t0007g0259 a0003c0003t0001g0036 a0003c0003t0006g0004 a0003c0003t0006g0325	4	328	0.0122	-32	c.153 others(45): Show c.153-77_153-46delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
UROC1_chr3_126476166_126522773	126515834	ACCCACCA others(25): Show ACCCACCACCTACCCTCTCCCCAACCCCCAGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02976.hp2 HG03098.hp2 others(5): Show HG00639.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0004 a0004c0007 a0001c0003 a0001c0004 a0004c0007	a0001c0003t0001 a0001c0004t0003 a0001c0004t0005 others(2): Show a0001c0003t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0004c0007t0005	a0001c0003t0001g0060 a0001c0004t0003g0054 a0001c0004t0005g0058 others(5): Show a0001c0003t0001g0060 a0001c0004t0003g0054 a0001c0004t0005g0058 a0001c0004t0005g0061 a0001c0004t0006g0059 a0004c0007t0005g0055 a0004c0007t0005g0056 a0004c0007t0005g0057	8	380	0.0211	-32	c.126 others(49): Show c.126+1728_126+1759delCACTGGGGGTTGGGGAGAGGGTAGGTGG TGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
UROC1_chr3_126476166_126522773	126516255	CCCCTCAT others(25): Show CCCCTCATCACCCCAGCACCCACCACCTAATGT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	380	0.0026	-32	c.126 others(49): Show c.126+1307_126+1338delACATTAGGTGGTGGGTGCTGGGGTGATG AGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
USH2A_chr1_215617891_216428448	216030475	TATGATAT others(25): Show TATGATATATAGATATATATCACAGATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp1 NA19043.hp2 HG02615.hp1 HG03225.hp1 NA19043.hp2	a0004 a0008 a0062 a0004 a0008 a0062	a0004c0055 a0008c0052 a0062c0015 a0004c0055 a0008c0052 a0062c0015	a0004c0055t0006 a0008c0052t0003 a0062c0015t0011 a0004c0055t0006 a0008c0052t0003 a0062c0015t0011	a0004c0055t0006g0061 a0008c0052t0003g0072 a0062c0015t0011g0008 a0004c0055t0006g0061 a0008c0052t0003g0072 a0062c0015t0011g0008	3	74	0.0405	-32	c.632 others(53): Show c.6325+15924_6325+15955delTTATATATCTGTGATATATATCTA TATATCAT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	32/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216135152	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCACACACACACATACACA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0045 a0045	a0045c0009 a0045c0009	a0045c0009t0008 a0045c0009t0008	a0045c0009t0008g0001 a0045c0009t0008g0001	1	74	0.0135	-32	c.462 others(53): Show c.4628-37971_4628-37940delTGTGTATGTGTGTGTGTGAGAGAG AGAGAGAG	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	21/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216377779	AAAAGAAA others(25): Show AAAAGAAAGAAAGAGAAGGAAAGAAATAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0064 a0064	a0064c0028 a0064c0028	a0064c0028t0003 a0064c0028t0003	a0064c0028t0003g0041 a0064c0028t0003g0041	1	74	0.0135	-32	c.652 others(51): Show c.652-12726_652-12695delCTTTTTATTTCTTTCCTTCTCTTTCT TTCTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	3/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84697677	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01074.hp1 others(23): Show HG00280.hp1 HG00733.hp1 HG01074.hp1 HG01358.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp1 HG03834.hp2 HG06807.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18992.hp1 NA19003.hp1 NA19010.hp1 NA19011.hp2 NA19060.hp2 NA19064.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0006 a0001c0007 others(3): Show a0001c0002 a0001c0006 a0001c0007 a0001c0009 a0002c0001 a0003c0003	a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 others(4): Show a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0011 a0001c0009t0001 a0002c0001t0001 a0003c0003t0001	a0001c0002t0001g0386 a0001c0006t0001g0005 a0001c0006t0001g0389 others(22): Show a0001c0002t0001g0386 a0001c0006t0001g0005 a0001c0006t0001g0389 a0001c0006t0001g0390 a0001c0006t0001g0392 a0001c0006t0001g0396 a0001c0006t0001g0397 a0001c0006t0001g0398 a0001c0006t0001g0399 a0001c0006t0001g0400 a0001c0006t0001g0401 a0001c0006t0001g0407 a0001c0006t0001g0410 a0001c0006t0001g0415 a0001c0006t0001g0417 a0001c0007t0001g0144 a0001c0007t0011g0384 a0001c0009t0001g0391 a0001c0009t0001g0394 a0001c0009t0001g0395 a0001c0009t0001g0406 a0001c0009t0001g0414 a0001c0009t0001g0416 a0002c0001t0001g0385 a0003c0003t0001g0365	26	430	0.0605	-32	c.-24 others(43): Show c.-2413_-2382delTATATATATATATATATATATATATATATATG	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding		2322		chr16	TogoVar
USP24_chr1_55061359_55220364	55178676	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01255.hp1 HG01884.hp2 others(25): Show HG00639.hp1 HG01255.hp1 HG01884.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02809.hp1 HG02896.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18948.hp1 NA18990.hp2 NA19006.hp2 NA19064.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0012 a0001c0001 a0002c0002 a0002c0012	a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 a0001c0001t0001 a0002c0002t0001 a0002c0012t0001	a0001c0001t0001g0184 a0002c0002t0001g0019 a0002c0002t0001g0022 others(25): Show a0001c0001t0001g0184 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0027 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0056 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0012t0001g0026	28	198	0.1414	-32	c.325 others(47): Show c.325-576_325-545delATTTATTTATTTATTTATTTATTTATTTAT TT	USP24	ENSG00000162402.15	transcript	ENST00000294383.7	protein_coding	1/67			chr1	TogoVar
USP34_chr2_61182463_61476087	61239300	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	312	0.0032	-32	c.677 others(51): Show c.6777+2228_6777+2259delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	53/79			chr2	TogoVar
USP35_chr11_78183919_78220232	78214740	TGATGGCC others(25): Show TGATGGCCACTGGGTTTTGCTCACGGGGTCTGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG03041.hp2 others(3): Show HG02055.hp2 HG02976.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp2 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0031 a0004c0004t0032 a0004c0004t0078 others(1): Show a0004c0004t0031 a0004c0004t0032 a0004c0004t0078 a0004c0004t0081	a0004c0004t0031g0047 a0004c0004t0031g0248 a0004c0004t0032g0247 others(3): Show a0004c0004t0031g0047 a0004c0004t0031g0248 a0004c0004t0032g0247 a0004c0004t0032g0279 a0004c0004t0078g0047 a0004c0004t0081g0249	6	416	0.0144	-32	c.92 others(41): Show c.929_*960delATGGCCACTGGGTTTTGCTCACGGGGTCTGGG	USP35	ENSG00000118369.13	transcript	ENST00000529308.6	protein_coding	11/11	929	INFO_REALIGN_3_PRIME	chr11	TogoVar
USP44_chr12_95511560_95556476	95512710	CAAAAAGA others(25): Show CAAAAAGAGAGAGAGAGAAAGAGAGATGGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0017	1	402	0.0025	-32	c.54 others(43): Show c.5412_*5443delATTACCATCTCTCTTTCTCTCTCTCTCTTTTT	USP44	ENSG00000136014.12	transcript	ENST00000258499.8	protein_coding		3849		chr12	TogoVar
USP44_chr12_95511560_95556476	95514826	ATTCTTGG others(25): Show ATTCTTGGACTTTTTCATTCATGAGGCAAATGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0125 a0001c0003t0002g0125	1	402	0.0025	-32	c.32 others(43): Show c.3296_*3327delGCATTTGCCTCATGAATGAAAAAGTCCAAGAA	USP44	ENSG00000136014.12	transcript	ENST00000258499.8	protein_coding		1733		chr12	TogoVar
USP6NL_chr10_11455510_11616650	11493782	TTCCTGCC others(25): Show TTCCTGCCTGTGCGGCCGGACCTCTGGGCCTGC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0322 a0001c0002t0002g0322	1	402	0.0025	-32	c.385 others(47): Show c.385-586_385-555delGCAGGCCCAGAGGTCCGGCCGCACAGGCAG GA	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	7/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11541230	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0100 a0001c0003t0016g0100	1	402	0.0025	-32	c.5-1 others(47): Show c.5-13695_5-13664delATATATATATATATATATATATATATATAT AT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
UTF1_chr10_133225217_133236558	133227483	GCGCCATC others(25): Show GCGCCATCCACTCCCCGGCTCTGTCCCCCACGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(48): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01516.hp1 HG01884.hp1 HG01952.hp2 HG01981.hp2 HG02055.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03654.hp2 HG03704.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18943.hp2 NA19005.hp2 NA19030.hp2 NA20905.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0009 a0001c0001 a0001c0002 others(3): Show a0000c0009 a0001c0001 a0001c0002 a0001c0008 a0001c0016 a0002c0003	a0000c0009t0001 a0001c0001t0001 a0001c0001t0007 others(4): Show a0000c0009t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 a0001c0008t0001 a0001c0016t0001 a0002c0003t0001	a0000c0009t0001g0001 a0001c0001t0001g0001 a0001c0001t0007g0001 others(4): Show a0000c0009t0001g0001 a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0002t0003g0001 a0001c0008t0001g0001 a0001c0016t0001g0002 a0002c0003t0001g0001	51	404	0.1262	-32	c.-28 others(43): Show c.-2805_-2774delCGCCATCCACTCCCCGGCTCTGTCCCCCACGC	UTF1	ENSG00000171794.4	transcript	ENST00000304477.3	protein_coding		2733		chr10	TogoVar
UTP20_chr12_101275105_101391618	101340937	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02145.hp1 HG00673.hp1 HG02145.hp1	a0001 a0014 a0001 a0014	a0001c0003 a0014c0024 a0001c0003 a0014c0024	a0001c0003t0008 a0014c0024t0001 a0001c0003t0008 a0014c0024t0001	a0001c0003t0008g0070 a0014c0024t0001g0008 a0001c0003t0008g0070 a0014c0024t0001g0008	2	356	0.0056	-32	c.410 others(49): Show c.4101+351_4101+382delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	32/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP25_chr1_209822972_209862565	209824334	CTCAACAT others(25): Show CTCAACATATCTTGAAACTATGTGACCTTGTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0008 a0002c0002t0006g0008	1	430	0.0023	-32	c.-37 others(43): Show c.-3729_-3698delTCAACATATCTTGAAACTATGTGACCTTGTTA	UTP25	ENSG00000117597.18	transcript	ENST00000491415.7	protein_coding		3637		chr1	TogoVar
UVRAG_chr11_75810210_76149232	75828754	CATATATA others(25): Show CATATATATATATATATATATACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00558.hp1 others(20): Show HG00140.hp1 HG00438.hp1 HG00558.hp1 HG01975.hp1 HG02056.hp1 HG02080.hp1 HG02280.hp2 HG02486.hp1 HG03130.hp2 HG03139.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 NA18747.hp1 NA18941.hp2 NA18957.hp2 NA18961.hp1 NA18978.hp1 NA18990.hp1 NA19002.hp2 NA19043.hp1 NA19088.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0006 a0002c0002 a0002c0003 a0003c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0013 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0013 a0002c0002t0015 a0002c0002t0021 a0002c0002t0022 a0002c0002t0025 a0002c0003t0001 a0002c0003t0029 a0003c0006t0010	a0002c0002t0001g0083 a0002c0002t0001g0089 a0002c0002t0001g0106 others(20): Show a0002c0002t0001g0083 a0002c0002t0001g0089 a0002c0002t0001g0106 a0002c0002t0001g0110 a0002c0002t0002g0090 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0114 a0002c0002t0013g0095 a0002c0002t0015g0115 a0002c0002t0021g0096 a0002c0002t0022g0085 a0002c0002t0025g0092 a0002c0003t0001g0091 a0002c0003t0029g0078 a0003c0006t0010g0104	23	146	0.1575	-32	c.117 others(51): Show c.117+13251_117+13282delACACACATATATATATATATATATAT ATATAT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
VAV3_chr1_107566161_107970180	107908820	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02630.hp1 others(9): Show HG01884.hp1 HG02451.hp1 HG02630.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03540.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0008t0003 a0002c0003t0003	a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 others(9): Show a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0004g0048 a0001c0001t0004g0050 a0001c0001t0007g0051 a0001c0001t0007g0052 a0001c0008t0003g0049 a0002c0003t0003g0055	12	210	0.0571	-32	c.205 others(51): Show c.205-33835_205-33804delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	1/26			chr1	TogoVar
VAX2_chr2_70895576_70938446	70919094	CGGGAGGC others(25): Show CGGGAGGCTGAGGCAGGAGAATCACTTGAACCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(349): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0002c0002 a0002c0004 a0003c0005 a0004c0010 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0007t0002 a0001c0009t0001 a0002c0002t0001 a0002c0004t0001 a0003c0005t0001 a0004c0010t0002 a0005c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 others(264): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0001t0002g0313 a0001c0001t0003g0084 a0001c0001t0004g0020 a0001c0003t0001g0270 a0001c0003t0001g0278 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0301 a0001c0003t0001g0303 a0001c0003t0001g0306 a0001c0003t0002g0016 a0001c0003t0002g0045 a0001c0003t0002g0262 a0001c0003t0002g0272 a0001c0003t0002g0274 a0001c0003t0002g0275 a0001c0003t0002g0276 a0001c0003t0002g0279 a0001c0003t0002g0282 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0285 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 a0001c0003t0002g0289 a0001c0003t0002g0290 a0001c0003t0002g0291 a0001c0003t0002g0292 a0001c0003t0002g0298 a0001c0003t0002g0299 a0001c0003t0002g0302 a0001c0003t0002g0304 a0001c0006t0001g0223 a0001c0006t0001g0224 a0001c0007t0002g0016 a0001c0009t0001g0183 a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0277 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0300 a0002c0002t0001g0305 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0004t0001g0012 a0002c0004t0001g0031 a0002c0004t0001g0032 a0002c0004t0001g0040 a0002c0004t0001g0052 a0002c0004t0001g0055 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0112 a0002c0004t0001g0113 a0002c0004t0001g0114 a0002c0004t0001g0116 a0002c0004t0001g0122 a0002c0004t0001g0125 a0002c0004t0001g0135 a0002c0004t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0176 a0002c0004t0001g0181 a0002c0004t0001g0184 a0002c0004t0001g0186 a0002c0004t0001g0190 a0002c0004t0001g0211 a0002c0004t0001g0218 a0002c0004t0001g0219 a0002c0004t0001g0254 a0002c0004t0001g0309 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0314 a0003c0005t0001g0315 a0004c0010t0002g0010 a0005c0008t0001g0205	352	426	0.8263	-32	c.248 others(49): Show c.248-1964_248-1933delTGAGGCAGGAGAATCACTTGAACCTGGG AGGC	VAX2	ENSG00000116035.4	transcript	ENST00000234392.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
VDR_chr12_47836537_47909994	47859840	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02523.hp2 NA18940.hp2 others(1): Show HG00438.hp1 HG02523.hp2 NA18940.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018	a0001c0001t0004g0141 a0001c0001t0005g0136 a0001c0001t0005g0261 others(1): Show a0001c0001t0004g0141 a0001c0001t0005g0136 a0001c0001t0005g0261 a0001c0001t0018g0201	4	358	0.0112	-32	c.278 others(49): Show c.278-2184_278-2153delAAGGAAAGAAGGAAGGAAGGAAGGAAGG AAGG	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9			chr12	TogoVar
VEGFC_chr4_176678538_176797922	176795320	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	224	0.0045	-32	c.-30 others(43): Show c.-3041_-3010delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	VEGFC	ENSG00000150630.4	transcript	ENST00000618562.2	protein_coding		2399		chr4	TogoVar
VEPH1_chr3_157254742_157508416	157272240	TCTTCCTT others(25): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00738.hp1 others(73): Show HG00280.hp2 HG00558.hp1 HG00738.hp1 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01981.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18981.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19012.hp2 NA19043.hp1 NA19070.hp2 NA19076.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0014	a0001c0001 a0001c0006 a0002c0005 others(4): Show a0001c0001 a0001c0006 a0002c0005 a0003c0002 a0004c0007 a0010c0019 a0014c0024	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0006t0001 a0002c0005t0001 a0003c0002t0001 a0004c0007t0001 a0010c0019t0001 a0014c0024t0001	a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0053 others(73): Show a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0006g0193 a0001c0001t0007g0131 a0001c0001t0007g0139 a0001c0001t0007g0148 a0001c0001t0007g0225 a0001c0001t0008g0303 a0001c0001t0009g0157 a0001c0001t0009g0198 a0001c0001t0012g0042 a0001c0001t0014g0009 a0001c0006t0001g0011 a0001c0006t0001g0019 a0002c0005t0001g0117 a0002c0005t0001g0134 a0003c0002t0001g0054 a0003c0002t0001g0055 a0003c0002t0001g0080 a0003c0002t0001g0082 a0003c0002t0001g0086 a0003c0002t0001g0090 a0003c0002t0001g0093 a0003c0002t0001g0162 a0003c0002t0001g0214 a0003c0002t0001g0271 a0004c0007t0001g0169 a0010c0019t0001g0032 a0014c0024t0001g0081	76	304	0.2500	-32	c.212 others(51): Show c.2129-6610_2129-6579delGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	12/13			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573284	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19007.hp1 NA19058.hp2 NA18979.hp2 NA19007.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0002 a0002c0003t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001	a0001c0001t0002g0361 a0001c0002t0002g0238 a0002c0003t0001g0046 a0001c0001t0002g0361 a0001c0002t0002g0238 a0002c0003t0001g0046	3	388	0.0077	-32	c.273 others(49): Show c.273-8297_273-8266delCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573316	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18969.hp2 HG03209.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0002 a0001c0001t0011 a0001c0002t0002	a0001c0001t0011g0291 a0001c0002t0002g0237 a0001c0001t0011g0291 a0001c0002t0002g0237	2	388	0.0052	-32	c.273 others(49): Show c.273-8329_273-8298delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VIRMA_chr8_94482689_94558469	94555870	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02257.hp2 HG02258.hp2 others(9): Show HG01496.hp2 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0236 a0001c0003t0001g0100 a0001c0004t0001g0023 others(7): Show a0001c0001t0001g0236 a0001c0003t0001g0100 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0298 a0001c0004t0001g0299 a0001c0004t0001g0300 a0001c0004t0001g0301 a0001c0004t0001g0302 a0001c0004t0001g0304	12	346	0.0347	-32	c.-24 others(43): Show c.-2455_-2424delATATATATATATATATATATATATATATATAT	VIRMA	ENSG00000164944.12	transcript	ENST00000297591.10	protein_coding		2402		chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540035	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0121 a0004c0009t0004g0121	1	134	0.0075	-32	c.474 others(53): Show c.4746-16413_4746-16382delATATATATATATATATATATATAT ATATTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540037	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	134	0.0075	-32	c.474 others(53): Show c.4746-16411_4746-16380delATATATATATATATATATATATAT ATTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540039	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03579.hp1 HG01256.hp2 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0001 a0004c0009t0006 a0001c0002t0001 a0004c0009t0006	a0001c0002t0001g0014 a0004c0009t0006g0120 a0001c0002t0001g0014 a0004c0009t0006g0120	2	134	0.0149	-32	c.474 others(53): Show c.4746-16409_4746-16378delATATATATATATATATATATATAT TTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13C_chr15_61847389_62065447	62037241	TATATAAT others(25): Show TATATAATATATTTATATATATTATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02145.hp1 HG02895.hp1 others(3): Show HG02004.hp2 HG02145.hp1 HG02895.hp1 HG03041.hp1 HG04199.hp2 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0004 a0005c0005t0018 a0002c0002t0001 a0005c0005t0004 a0005c0005t0018	a0002c0002t0001g0045 a0005c0005t0004g0014 a0005c0005t0004g0016 others(3): Show a0002c0002t0001g0045 a0005c0005t0004g0014 a0005c0005t0004g0016 a0005c0005t0004g0017 a0005c0005t0004g0018 a0005c0005t0018g0015	6	352	0.0171	-32	c.188 others(49): Show c.188-2221_188-2190delTATATAATATAATATATATAAATATATT ATAT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	3/84			chr15	TogoVar
VPS13D_chr1_12225030_12517047	12381922	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0152 a0003c0007t0006g0152	1	154	0.0065	-32	c.111 others(52): Show c.11191-1024_11191-993delTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	57/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS35L_chr16_19550703_19706163	19570834	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(56): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp2 HG01346.hp2 HG01934.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp1 HG02559.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03654.hp1 HG03834.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19063.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0018 a0003c0010 a0006c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0008t0002 a0001c0008t0005 a0001c0018t0001 a0003c0010t0001 a0006c0020t0001	a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0081 others(56): Show a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0237 a0001c0001t0002g0079 a0001c0001t0004g0077 a0001c0002t0001g0085 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0137 a0001c0002t0001g0176 a0001c0002t0001g0179 a0001c0002t0004g0076 a0001c0002t0004g0078 a0001c0002t0005g0178 a0001c0008t0002g0173 a0001c0008t0005g0175 a0001c0018t0001g0080 a0003c0010t0001g0075 a0006c0020t0001g0113	59	284	0.2078	-32	c.285 others(49): Show c.285+1268_285+1299delATATATATATATATATATATATATATAT ATAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666872	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp2 HG01243.hp1 others(10): Show HG00558.hp1 HG01069.hp2 HG01243.hp1 HG01884.hp1 HG01928.hp1 HG02055.hp1 HG02257.hp1 HG02293.hp2 HG02602.hp2 HG02723.hp2 HG02965.hp2 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0007 a0001c0002t0001g0117 a0001c0002t0001g0132 others(10): Show a0001c0002t0001g0007 a0001c0002t0001g0117 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0179 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0263 a0001c0005t0001g0060	13	284	0.0458	-32	c.222 others(51): Show c.2222-2257_2222-2226delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS41_chr7_38717974_38914191	38720552	GTGTGTGT others(25): Show GTGTGTGTGTGTATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG03516.hp2 HG02109.hp1 HG02615.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0072 a0001c0003t0021g0094 a0001c0003t0021g0099 a0001c0003t0021g0072 a0001c0003t0021g0094 a0001c0003t0021g0099	3	278	0.0108	-32	c.56 others(43): Show c.5662_*5693delTATATATATATATATATATATACACACACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2421		chr7	TogoVar
VPS4A_chr16_69306350_69331939	69319164	TCACTGTG others(25): Show TCACTGTGCAAGGTCATGGGGTCATAGCAGGGG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG03486.hp2 HG02486.hp1 HG02723.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0029 a0001c0002t0006g0109 a0001c0002t0006g0029 a0001c0002t0006g0109	3	366	0.0082	-32	c.464 others(47): Show c.464-194_464-163delGGGGCACTGTGCAAGGTCATGGGGTCATAG CA	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS53_chr17_503668_719839	583526	AGAACTTT others(25): Show AGAACTTTCCTCAGAACCTAATGCGTTCCCAGG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 NA18747.hp1 others(4): Show HG02135.hp2 HG02602.hp1 NA18747.hp1 NA18955.hp2 NA18960.hp2 NA18994.hp2 NA19010.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0019 a0001c0005t0044 others(3): Show a0001c0005t0010 a0001c0005t0019 a0001c0005t0044 a0001c0005t0045 a0001c0005t0046 a0001c0005t0080	a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 others(4): Show a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 a0001c0005t0044g0096 a0001c0005t0045g0009 a0001c0005t0046g0011 a0001c0005t0080g0092	7	232	0.0302	-32	c.131 others(51): Show c.1313+2712_1313+2743delCCTGGGAACGCATTAGGTTCTGAGGA AAGTTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	13/21			chr17	TogoVar

Search by Variant

Search

Search Results (Total: 5012 hits)