Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TYMS_chr18_652653_678578	667273	GGTGATGG others(21): Show GGTGATGGGATGGTGATGGAGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp2 HG02572.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0201 a0001c0001t0004g0361 a0001c0001t0004g0201 a0001c0001t0004g0361	2	482	0.0042	-28	c.455 others(45): Show c.455-1797_455-1770delTGATGGGATGGTGATGGAGATGGTGATG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYSND1_chr10_70132981_70151700	70133098	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01071.hp2 others(7): Show HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG02602.hp1 HG02809.hp1 HG04184.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0001 a0005c0007 a0001c0002 a0002c0001 a0005c0007	a0001c0002t0004 a0002c0001t0001 a0005c0007t0006 a0001c0002t0004 a0002c0001t0001 a0005c0007t0006	a0001c0002t0004g0007 a0002c0001t0001g0001 a0002c0001t0001g0012 others(1): Show a0001c0002t0004g0007 a0002c0001t0001g0001 a0002c0001t0001g0012 a0005c0007t0006g0023	10	458	0.0218	-28	c.67 others(39): Show c.6798_*6825delCTCTCTCTCTCTCTCTCTCTCTCTCTCT		TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding					4882		chr10	TogoVar
UBAC2_chr13_99195854_99391504	99283713	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02602.hp2 HG03491.hp1 others(1): Show HG01109.hp1 HG02602.hp2 HG03491.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0234 a0001c0001t0002g0323 a0001c0001t0002g0324 others(1): Show a0001c0001t0002g0234 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0013g0325	4	380	0.0105	-28	c.390 others(47): Show c.390-30372_390-30345delTTTTTTTTTTTTTTTTTTTTTTTTTT TT		UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP1_chr9_34174043_34257523	34182616	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0189 a0001c0001t0003g0190	2	342	0.0059	-28	c.-8+ others(43): Show c.-8+3417_-8+3444delTTCTTTCTTTCTTTCTTTCTTTCTTTCT		UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP2_chr9_33916693_34053887	33939812	GGGGAGGA others(21): Show GGGGAGGAGGAAGGGGGGGAGGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0356 a0001c0003t0001g0356	1	356	0.0028	-28	c.192 others(47): Show c.1929+1809_1929+1836delTCCCCCTCCTCCCCCCCTTCCTCCTC CC		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	33939893	GGAGGAGG others(21): Show GGAGGAGGAGGAGGATGGGGAGGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0067 a0002c0001t0008g0067	1	356	0.0028	-28	c.192 others(47): Show c.1929+1728_1929+1755delTCTTCTCCTCCCCATCCTCCTCCTCC TC		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28						chr9	TogoVar
UBASH3A_chr21_42398902_42452684	42399354	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0155 a0002c0016t0002g0155	1	408	0.0025	-28	c.-45 others(39): Show c.-4591_-4564delAAAAAAAAAAAAAAAAAAAAAAAAAAAA		UBASH3A	ENSG00000160185.15	transcript	ENST00000319294.11	protein_coding					4547		chr21	TogoVar
UBE2G1_chr17_4264259_4371675	4279785	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0149 a0001c0001t0024g0149	1	272	0.0037	-28	c.37 others(45): Show c.37+2985_*37+3012delTATATATATATATATATATATATATATA		UBE2G1	ENSG00000132388.13	transcript	ENST00000396981.7	protein_coding	5/5						chr17	TogoVar
UBE2H_chr7_129825732_129957960	129867699	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAGAAAACCAAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	290	0.0035	-28	c.206 others(45): Show c.206-8786_206-8759delTTTGGTTTTCTTTTTTTTTTTTTTTTTT		UBE2H	ENSG00000186591.13	transcript	ENST00000355621.8	protein_coding	3/6						chr7	TogoVar
UBE2U_chr1_64198623_64272368	64208603	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	330	0.0030	-28	c.241 others(45): Show c.241+1763_241+1790delAAAAAAAAAAAAAAAAAAAAAAAAAAAA		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239129	GAAGAAGA others(21): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01891.hp2 NA20129.hp1 others(1): Show HG01123.hp2 HG01891.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0196 a0001c0001t0002g0201 others(1): Show a0001c0001t0002g0167 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0308	4	330	0.0121	-28	c.596 others(45): Show c.596-2493_596-2466delAGAAGAAGAAGAAGAAGAAGAAGAAGAA		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE3C_chr7_157133926_157274370	157152185	GAGGAAGG others(21): Show GAGGAAGGTAGTCAGGGACAGAGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0322 a0001c0001t0003g0322	1	322	0.0031	-28	c.67- others(45): Show c.67-11624_67-11597delAGGAAGGTAGTCAGGGACAGAGCTGGGA		UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	1/22						chr7	TogoVar
UBE4A_chr11_118354600_118404211	118355868	TATACACA others(21): Show TATACACACATATATGTGTGTGTATACGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01106.hp2 others(9): Show HG00408.hp1 HG00735.hp2 HG01106.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG03579.hp2 NA18944.hp1 NA18981.hp1 NA18982.hp1 NA18985.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021	a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0005g0037 others(8): Show a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0005g0037 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0015g0242 a0001c0001t0018g0173 a0001c0001t0021g0047	12	320	0.0375	-28	c.-38 others(39): Show c.-3847_-3820delATACACACATATATGTGTGTGTATACGC		UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding					3731		chr11	TogoVar
UBL3_chr13_29759371_29855617	29788864	TGTGTGTG others(21): Show TGTGTGTGCGCGCGCGCGCGCACGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00621.hp2 others(82): Show HG00408.hp1 HG00438.hp1 HG00621.hp2 HG01109.hp2 HG01167.hp2 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19075.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0027 a0001c0001t0031 a0001c0001t0036 a0001c0001t0039	a0001c0001t0001g0223 a0001c0001t0002g0008 a0001c0001t0002g0009 others(79): Show a0001c0001t0001g0223 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0340 a0001c0001t0002g0360 a0001c0001t0007g0369 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0010g0020 a0001c0001t0010g0021 a0001c0001t0010g0022 a0001c0001t0010g0023 a0001c0001t0010g0024 a0001c0001t0011g0252 a0001c0001t0011g0253 a0001c0001t0011g0272 a0001c0001t0011g0289 a0001c0001t0011g0305 a0001c0001t0021g0025 a0001c0001t0027g0098 a0001c0001t0031g0106 a0001c0001t0036g0310 a0001c0001t0039g0256	85	392	0.2168	-28	c.28- others(45): Show c.28-11629_28-11602delGTGCGCGTGCGCGCGCGCGCGCACACAC		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29788874	CGCGCGCG others(21): Show CGCGCGCGCGCACGCGCACGTGTGTGCGT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01109.hp1 others(29): Show HG01070.hp2 HG01074.hp1 HG01109.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02132.hp1 HG02523.hp2 HG02683.hp2 HG02738.hp2 HG02896.hp1 HG03225.hp2 HG03669.hp2 HG03927.hp2 HG04115.hp2 NA18950.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18998.hp2 NA19010.hp2 NA19057.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0026	a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0191 others(29): Show a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0243 a0001c0001t0002g0268 a0001c0001t0003g0044 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0003g0086 a0001c0001t0003g0095 a0001c0001t0004g0129 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0077 a0001c0001t0006g0079 a0001c0001t0006g0080 a0001c0001t0006g0081 a0001c0001t0012g0377 a0001c0001t0013g0103 a0001c0001t0026g0062	32	392	0.0816	-28	c.28- others(45): Show c.28-11639_28-11612delACGCACACACGTGCGCGTGCGCGCGCGC		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29835097	TATATATA others(21): Show TATATATATAAATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	392	0.0026	-28	c.27+ others(45): Show c.27+14387_27+14414delTTATATATATATATATATTTATATATAT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29835107	AATATATA others(21): Show AATATATATATATATATAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02602.hp2 NA18939.hp1 others(5): Show HG01516.hp2 HG02602.hp2 NA18939.hp1 NA18980.hp2 NA18984.hp2 NA18998.hp1 NA19075.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0109 a0001c0001t0001g0186 a0001c0001t0001g0198 others(5): Show a0001c0001t0001g0109 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0219 a0001c0001t0001g0247 a0001c0001t0013g0100	8	392	0.0204	-28	c.27+ others(45): Show c.27+14377_27+14404delATATATATATTTATATATATATATATAT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29835125	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01109.hp1 others(20): Show HG00099.hp2 HG00741.hp2 HG01109.hp1 HG01257.hp1 HG01978.hp2 HG02293.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18983.hp2 NA18994.hp1 NA19003.hp1 NA19007.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0108 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0012g0375 a0001c0001t0012g0377 a0001c0001t0012g0378 a0001c0001t0012g0379	23	392	0.0587	-28	c.27+ others(45): Show c.27+14359_27+14386delATATATATATATATATATATATATATAT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBR1_chr15_42937897_43111038	43061524	CACACACA others(21): Show CACACACACATATACACATACACATACAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	276	0.0036	-28	c.799 others(45): Show c.799-1438_799-1411delATGTATGTGTATGTGTATATGTGTGTGT		UBR1	ENSG00000159459.12	transcript	ENST00000290650.9	protein_coding	6/46						chr15	TogoVar
UBR4_chr1_19069510_19215266	19072467	ACCAGCCT others(21): Show ACCAGCCTCCACTCCTGCTGGAGACCAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02258.hp1 others(7): Show HG01109.hp2 HG02145.hp2 HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03540.hp1 HG03579.hp2 NA19030.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0001 a0004c0022 a0015c0049 a0001c0001 a0004c0022 a0015c0049	a0001c0001t0001 a0004c0022t0001 a0015c0049t0002 a0001c0001t0001 a0004c0022t0001 a0015c0049t0002	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 others(7): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0004c0022t0001g0142 a0004c0022t0001g0143 a0015c0049t0002g0004	10	326	0.0307	-28	c.23 others(39): Show c.2337_*2364delACTGGTCTCCAGCAGGAGTGGAGGCTGG		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding					2042		chr1	TogoVar
UBR4_chr1_19069510_19215266	19143247	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	326	0.0031	-28	c.817 others(45): Show c.8179+705_8179+732delTCTTTCTTTCTTTCTTCCTTCCTTCCTT		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105						chr1	TogoVar
UBR4_chr1_19069510_19215266	19143251	GAAGGAAG others(21): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG01884.hp1 others(1): Show HG00140.hp1 HG00609.hp2 HG01884.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0243 a0001c0001t0001g0249 others(1): Show a0001c0001t0001g0220 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0270	4	326	0.0123	-28	c.817 others(45): Show c.8179+701_8179+728delTCTTTCTTTCTTTCTTTCTTCCTTCCTT		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105						chr1	TogoVar
UBR4_chr1_19069510_19215266	19143255	GAAGGAAG others(21): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18940.hp1 NA18972.hp2 HG03540.hp1 NA18940.hp1 NA18972.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0049 a0001c0001 a0015c0049	a0001c0001t0001 a0015c0049t0002 a0001c0001t0001 a0015c0049t0002	a0001c0001t0001g0275 a0001c0001t0001g0322 a0015c0049t0002g0004 a0001c0001t0001g0275 a0001c0001t0001g0322 a0015c0049t0002g0004	3	326	0.0092	-28	c.817 others(45): Show c.8179+697_8179+724delTCTTTCTTTCTTTCTTTCTTTCTTCCTT		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105						chr1	TogoVar
UBXN11_chr1_26277282_26311636	26282374	ACCGGGAC others(21): Show ACCGGGACTGGGGCCGGGACCGGGACCGG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0000 a0000	a0000c0035 a0000c0035	a0000c0035t0003 a0000c0035t0003	a0000c0035t0003g0203 a0000c0035t0003g0203	1	370	0.0027	-28	c.146 others(37): Show c.1460_1487delCCGGTCCCGGTCCCGGCCCCAGTCCCGG	p.Pro others(5): Show p.Pro487fs	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1567/1660	1460/1563	487/520			chr1	TogoVar
UCK2_chr1_165822614_165916618	165880564	GGGGTGTG others(21): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01071.hp1 others(49): Show HG00323.hp2 HG01070.hp2 HG01071.hp1 HG01192.hp1 HG01256.hp1 HG01516.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02602.hp1 HG02735.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18954.hp2 NA18960.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18993.hp2 NA19000.hp2 NA19009.hp1 NA19030.hp1 NA19056.hp2 NA19065.hp2 NA19070.hp2 NA19086.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 a0001c0001t0025 a0001c0002t0005 a0001c0002t0015 a0001c0002t0020 a0001c0002t0034	a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0037 others(49): Show a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0138 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0240 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0279 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0011g0145 a0001c0001t0021g0135 a0001c0001t0025g0275 a0001c0002t0005g0029 a0001c0002t0005g0057 a0001c0002t0005g0077 a0001c0002t0005g0081 a0001c0002t0005g0082 a0001c0002t0005g0088 a0001c0002t0005g0099 a0001c0002t0005g0141 a0001c0002t0005g0146 a0001c0002t0005g0147 a0001c0002t0005g0183 a0001c0002t0005g0186 a0001c0002t0005g0219 a0001c0002t0005g0228 a0001c0002t0005g0237 a0001c0002t0005g0269 a0001c0002t0005g0303 a0001c0002t0005g0307 a0001c0002t0015g0226 a0001c0002t0015g0248 a0001c0002t0020g0193 a0001c0002t0034g0126	52	320	0.1625	-28	c.100 others(45): Show c.100-9638_100-9611delGGTGTGTGTGTGTGTGTGTGTGTGTGTG		UCK2	ENSG00000143179.16	transcript	ENST00000367879.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
UCK2_chr1_165822614_165916618	165880566	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	320	0.0031	-28	c.100 others(45): Show c.100-9616_100-9589delTGTGTGTGTGTGTGTGTGTGTGTGTGTG		UCK2	ENSG00000143179.16	transcript	ENST00000367879.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
UEVLD_chr11_18524609_18593734	18539518	GATGTTTT others(21): Show GATGTTTTGAAAATTGTGTTTTGGCATGA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	400	0.0025	-28	c.106 others(47): Show c.1061-3077_1061-3050delTCATGCCAAAACACAATTTTCAAAAC AT		UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	9/11						chr11	TogoVar
UGCG_chr9_111891814_111940369	111911905	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0253 a0001c0001t0054g0253	1	424	0.0024	-28	c.99- others(43): Show c.99-2675_99-2648delATATATATATATATATATATATATATAT		UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
UGT2A3_chr4_68923463_68956804	68935272	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00741.hp1 others(66): Show HG00140.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp2 HG02698.hp2 HG02735.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp2 HG03710.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp2 NA18959.hp2 NA18963.hp1 NA18965.hp1 NA18967.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18992.hp2 NA18995.hp1 NA19010.hp2 NA19054.hp2 NA19060.hp1 NA19065.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0007	a0002c0001 a0002c0008 a0003c0004 others(2): Show a0002c0001 a0002c0008 a0003c0004 a0005c0006 a0007c0012	a0002c0001t0001 a0002c0001t0009 a0002c0008t0001 others(3): Show a0002c0001t0001 a0002c0001t0009 a0002c0008t0001 a0003c0004t0006 a0005c0006t0008 a0007c0012t0001	a0002c0001t0001g0003 a0002c0001t0001g0005 a0002c0001t0001g0024 others(49): Show a0002c0001t0001g0003 a0002c0001t0001g0005 a0002c0001t0001g0024 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0270 a0002c0001t0001g0277 a0002c0001t0001g0280 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0318 a0002c0001t0001g0319 a0002c0001t0001g0320 a0002c0001t0001g0321 a0002c0001t0001g0323 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0334 a0002c0001t0001g0335 a0002c0001t0001g0336 a0002c0001t0001g0337 a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0340 a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0344 a0002c0001t0001g0345 a0002c0001t0001g0346 a0002c0001t0009g0322 a0002c0001t0009g0324 a0002c0008t0001g0079 a0003c0004t0006g0166 a0003c0004t0006g0215 a0003c0004t0006g0216 a0003c0004t0006g0217 a0003c0004t0006g0218 a0005c0006t0008g0052 a0005c0006t0008g0231 a0007c0012t0001g0341	69	459	0.1503	-28	c.865 others(45): Show c.865-2541_865-2514delTATATATATATATATATATATATACATA		UGT2A3	ENSG00000135220.11	transcript	ENST00000251566.9	protein_coding	2/5						chr4	TogoVar
UGT2B4_chr4_69475165_69500905	69499714	GTAAATTT others(21): Show GTAAATTTTCTTCCATCCCTTTATTTTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0063 a0002c0002t0003g0063	1	436	0.0023	-28	c.-38 others(39): Show c.-3881_-3854delTCAAAATAAAGGGATGGAAGAAAATTTA		UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding					3810		chr4	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	318	0.0031	-28	c.149 others(47): Show c.1497+1355_1497+1382delAAAAAAAAAAAAAAAAAAAAAAAAAA AA		UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK4_chr3_41241599_41967103	41930236	TTTCCTAT others(21): Show TTTCCTATTTAATAGGAAATCCTATTGTG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01515.hp1 HG02258.hp1 others(5): Show HG01169.hp2 HG01515.hp1 HG02258.hp1 HG02451.hp2 HG03209.hp1 HG03486.hp1 HG04184.hp2 NA18522.hp2	a0002 a0011 a0012 a0002 a0011 a0012	a0002c0003 a0002c0016 a0011c0018 others(1): Show a0002c0003 a0002c0016 a0011c0018 a0012c0017	a0002c0003t0001 a0002c0003t0006 a0002c0016t0001 others(2): Show a0002c0003t0001 a0002c0003t0006 a0002c0016t0001 a0011c0018t0001 a0012c0017t0001	a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 others(5): Show a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0006g0058 a0002c0016t0001g0057 a0011c0018t0001g0050 a0012c0017t0001g0022	8	72	0.1111	-28	c.541 others(45): Show c.541+1580_541+1607delCACAATAGGATTTCCTATTAAATAGGAA		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	5/36						chr3	TogoVar
UMAD1_chr7_7635752_7884223	7847100	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0020 a0001c0001t0053g0020	1	250	0.0040	-28	c.157 others(47): Show c.157-30179_157-30152delAAAATATATATATATATATATATATA TA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847102	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02132.hp1 HG02148.hp2 others(5): Show HG01993.hp2 HG02132.hp1 HG02148.hp2 HG03704.hp1 HG03927.hp2 NA18960.hp1 NA19004.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0102 others(5): Show a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0003g0128 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0208 a0001c0001t0005g0033	8	250	0.0320	-28	c.157 others(47): Show c.157-30177_157-30150delAATATATATATATATATATATATATA TA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847104	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0028 a0001c0001t0020g0028	1	250	0.0040	-28	c.157 others(47): Show c.157-30154_157-30127delATATATATATATATATATATATATAT AT		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42077002	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02965.hp2 HG02976.hp2 HG01081.hp2 HG02965.hp2 HG02976.hp2	a0004 a0027 a0048 a0004 a0027 a0048	a0004c0033 a0027c0135 a0048c0056 a0004c0033 a0027c0135 a0048c0056	a0004c0033t0002 a0027c0135t0001 a0048c0056t0041 a0004c0033t0002 a0027c0135t0001 a0048c0056t0041	a0004c0033t0002g0362 a0027c0135t0001g0273 a0048c0056t0041g0365 a0004c0033t0002g0362 a0027c0135t0001g0273 a0048c0056t0041g0365	3	400	0.0075	-28	c.319 others(43): Show c.319+793_319+820delTGTGTGTGTGTGTGTGTGTGTGTGTGTG		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13B_chr9_35157009_35410335	35328642	TCCTTCCT others(21): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(11): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG02027.hp1 HG02071.hp2 HG02135.hp1 HG02165.hp2 HG02602.hp1 HG02922.hp1 HG03834.hp2 NA18979.hp2 NA18998.hp1 NA19057.hp1 NA19062.hp1	a0003 a0007 a0003 a0007	a0003c0002 a0003c0024 a0007c0009 a0003c0002 a0003c0024 a0007c0009	a0003c0002t0001 a0003c0024t0001 a0007c0009t0001 a0003c0002t0001 a0003c0024t0001 a0007c0009t0001	a0003c0002t0001g0021 a0003c0002t0001g0055 a0003c0002t0001g0075 others(11): Show a0003c0002t0001g0021 a0003c0002t0001g0055 a0003c0002t0001g0075 a0003c0002t0001g0081 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0089 a0003c0002t0001g0090 a0003c0002t0001g0094 a0003c0002t0001g0100 a0003c0002t0001g0101 a0003c0002t0001g0122 a0003c0024t0001g0092 a0007c0009t0001g0129	14	224	0.0625	-28	c.941 others(49): Show c.9414+14664_9414+14691delTTCCTTCCTTCCTCCCTCCCTTCC TTCC		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54172703	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02559.hp2 HG02886.hp1 others(5): Show HG00735.hp2 HG02559.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG03041.hp1 HG03225.hp2 NA20752.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0020 a0001c0034 a0006c0013 a0007c0010	a0001c0001t0001 a0001c0002t0013 a0001c0002t0022 others(5): Show a0001c0001t0001 a0001c0002t0013 a0001c0002t0022 a0001c0003t0001 a0001c0020t0008 a0001c0034t0058 a0006c0013t0014 a0007c0010t0002	a0001c0001t0001g0013 a0001c0002t0013g0014 a0001c0002t0022g0086 others(5): Show a0001c0001t0001g0013 a0001c0002t0013g0014 a0001c0002t0022g0086 a0001c0003t0001g0019 a0001c0020t0008g0085 a0001c0034t0058g0149 a0006c0013t0014g0151 a0007c0010t0002g0139	8	158	0.0506	-28	c.307 others(49): Show c.3071+29050_3071+29077delATATATATATATATATATATATAT ATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54280727	TATGTATA others(21): Show TATGTATACATACATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02055.hp2 others(10): Show HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02258.hp1 HG02818.hp1 HG02922.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 NA18906.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014 a0003c0008 a0007c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0002t0001 a0001c0002t0021 a0001c0002t0060 a0001c0004t0028 a0001c0004t0052 a0001c0014t0002 a0003c0008t0015 a0007c0010t0002	a0001c0001t0001g0003 a0001c0001t0007g0152 a0001c0001t0011g0069 others(10): Show a0001c0001t0001g0003 a0001c0001t0007g0152 a0001c0001t0011g0069 a0001c0001t0014g0084 a0001c0002t0001g0005 a0001c0002t0021g0080 a0001c0002t0060g0146 a0001c0004t0028g0148 a0001c0004t0052g0036 a0001c0014t0002g0087 a0003c0008t0015g0091 a0003c0008t0015g0105 a0007c0010t0002g0139	13	158	0.0823	-28	c.381 others(49): Show c.3819-13166_3819-13139delTGTATACATACATATATACATATA TACA		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	10/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176805906	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0135 a0001c0007t0001g0135	1	268	0.0037	-28	c.-48 others(39): Show c.-4844_-4817delAAAGAAAGAAAGAAAGAAAGAAAGAAAG		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding					4652		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176829178	ATGGATGG others(21): Show ATGGATGGATGGATGGATGGATGGATGGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00558.hp2 others(153): Show HG00099.hp1 HG00099.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18954.hp1 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0007 a0001c0009 others(2): Show a0001c0001 a0001c0007 a0001c0009 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0007t0001 a0001c0009t0001 a0002c0002t0004 a0005c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(150): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0008g0113 a0001c0001t0009g0043 a0001c0001t0012g0129 a0001c0001t0015g0041 a0001c0001t0016g0161 a0001c0001t0017g0007 a0001c0007t0001g0135 a0001c0009t0001g0176 a0002c0002t0004g0144 a0005c0008t0002g0125	156	268	0.5821	-28	c.70+ others(45): Show c.70+18370_70+18397delATGGATGGATGGATGGTTGGATGGATGG		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5D_chr8_35230475_35801540	35300446	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00597.hp2 others(21): Show HG00438.hp2 HG00597.hp1 HG00597.hp2 HG01928.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03688.hp2 HG03927.hp2 NA18522.hp2 NA18983.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0002t0007 a0001c0002t0020 a0001c0003t0014 a0001c0003t0023 a0001c0004t0003 a0001c0008t0007 a0001c0009t0001 a0003c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0004g0035 a0001c0001t0006g0010 a0001c0001t0016g0019 a0001c0001t0019g0011 a0001c0001t0021g0008 a0001c0002t0007g0003 a0001c0002t0020g0002 a0001c0003t0014g0040 a0001c0003t0023g0005 a0001c0004t0003g0004 a0001c0008t0007g0037 a0001c0009t0001g0036 a0003c0007t0002g0007	24	64	0.3750	-28	c.103 others(47): Show c.103+64580_103+64607delAAAAAAAAAAAAAAAAAAAAAAAAAA AA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35538395	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp2 HG02257.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0002g0018 a0001c0001t0001g0034 a0001c0001t0002g0018	2	64	0.0313	-28	c.104 others(47): Show c.104-10879_104-10852delATATATATATATATATATATATATAT AT		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35789137	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02965.hp1 others(5): Show HG02615.hp2 HG02622.hp1 HG02965.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0008 a0001c0002t0020 a0001c0003t0005 others(3): Show a0001c0002t0008 a0001c0002t0020 a0001c0003t0005 a0001c0003t0011 a0001c0003t0023 a0001c0004t0022	a0001c0002t0008g0045 a0001c0002t0008g0047 a0001c0002t0020g0002 others(5): Show a0001c0002t0008g0045 a0001c0002t0008g0047 a0001c0002t0020g0002 a0001c0003t0005g0033 a0001c0003t0005g0041 a0001c0003t0011g0056 a0001c0003t0023g0005 a0001c0004t0022g0050	8	64	0.1250	-28	c.265 others(47): Show c.2658-1198_2658-1171delATATATATATATATATATATATATAT AT		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93558593	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0148 a0005c0012t0001g0148	1	193	0.0052	-28	c.175 others(49): Show c.1756-13284_1756-13257delTTTTTTTTTTTTTTTTTTTTTTTT TTTT		UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	14/51					INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209786980	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp2 HG02922.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0003 a0001c0001t0003 a0001c0007t0003	a0001c0001t0003g0022 a0001c0007t0003g0023 a0001c0001t0003g0022 a0001c0007t0003g0023	2	188	0.0106	-28	c.724 others(43): Show c.724+803_724+830delTATATATATATATATATATATATATATA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	5/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209844468	TTTCTTTC others(21): Show TTTCTTTCTTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG01891.hp2 HG02976.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0027 a0001c0010t0008g0028 a0001c0010t0008g0027 a0001c0010t0008g0028	2	188	0.0106	-28	c.345 others(47): Show c.3454+2026_3454+2053delTTTCTTTCCTTCCTTCCTTCCTTCCT TC		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209844472	TTTCTTTC others(21): Show TTTCTTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp2 HG03579.hp1 others(1): Show HG02818.hp2 HG03041.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0142 a0001c0002t0005g0140 a0001c0002t0005g0141 others(1): Show a0001c0002t0003g0142 a0001c0002t0005g0140 a0001c0002t0005g0141 a0001c0002t0005g0144	4	188	0.0213	-28	c.345 others(47): Show c.3454+2030_3454+2057delTTTCCTTCCTTCCTTCCTTCCTTCCT TC		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955722	TATATATA others(21): Show TATATATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02109.hp2 HG02559.hp1 others(2): Show HG01069.hp1 HG02109.hp2 HG02559.hp1 HG03516.hp1 NA20129.hp1	a0002 a0002	a0002c0011 a0002c0018 a0002c0011 a0002c0018	a0002c0011t0001 a0002c0018t0001 a0002c0011t0001 a0002c0018t0001	a0002c0011t0001g0007 a0002c0011t0001g0008 a0002c0011t0001g0010 others(2): Show a0002c0011t0001g0007 a0002c0011t0001g0008 a0002c0011t0001g0010 a0002c0018t0001g0005 a0002c0018t0001g0006	5	188	0.0266	-28	c.745 others(47): Show c.7457+1454_7457+1481delTATATATATATATATACACACACACA CA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNG_chr12_109092597_109115992	109110633	TGGAATTT others(21): Show TGGAATTTGAACAAGGAAGAGGAGAAAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 NA19030.hp1 NA19240.hp1 others(1): Show HG03139.hp1 NA19030.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0283 a0001c0001t0004g0026 a0001c0001t0004g0283	4	452	0.0089	-28	c.67 others(37): Show c.672_*699delGAACAAGGAAGAGGAGAAAAGGGAATTT		UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	7/7				672	INFO_REALIGN_3_PRIME	chr12	TogoVar

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