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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TYMS_chr18_652653_678578	667017	A A	AGATGGTG others(34): Show AGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0232 a0001c0001t0005g0232	1	482	0.0021	41	c.455 others(58): Show c.455-2050_455-2049insTGATGGAGATGGTGATGGTGATGGTGAT GGTGATGGGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UACA_chr15_70649554_70768558	70712051	C C	CATATATA others(34): Show CATATATATATATATATATAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0208 a0007c0011t0002g0208	1	310	0.0032	41	c.79- others(58): Show c.79-12392_79-12391insATATATATATATATATATATATTATATA TATATATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70735147	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAATTCTCAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0296 a0006c0010t0003g0296	1	310	0.0032	41	c.78+ others(58): Show c.78+28182_78+28183insTTTTTTTTTGAGAATTTTTTTTTTTTTT TTTTTTTTTTTTT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0255 a0001c0002t0005g0255	1	320	0.0031	41	c.124 others(60): Show c.1246-1589_1246-1588insAAATATATATATATATATATATATAT ATATATATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAC2_chr13_99195854_99391504	99242813	A A	AGGGGCTC others(34): Show AGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0300 a0001c0001t0004g0300	1	380	0.0026	41	c.160 others(56): Show c.160-990_160-989insTGCCGGGCGGAGGGGGCTCCTCACTTCTCA GACGGGGCGGC	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03491.hp2 HG01109.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0123 a0001c0001t0013g0325 a0001c0001t0003g0123 a0001c0001t0013g0325	2	380	0.0053	41	c.562 others(58): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0331 a0001c0003t0001g0331	1	356	0.0028	41	c.-42 others(60): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	336	0.0030	41	c.63+ others(58): Show c.63+16161_63+16162insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBL7_chr15_74440977_74466160	74465514	C C	CTATCCCC others(34): Show CTATCCCCTCCATTCATTCTCTCCATTTTAACAGATGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	362	0.0028	41	c.-45 others(52): Show c.-4508_-4507insCAGCACATCTGTTAAAATGGAGAGAATGAATGGA GGGGATA	UBL7	ENSG00000138629.16	transcript	ENST00000395081.7	protein_coding		4355		chr15	TogoVar
UBQLN1_chr9_83654968_83712958	83700265	G G	GAGTTGTG others(34): Show GAGTTGTGCCTGGAGAGTGGTGACCTGGGGGGAGCAGTCAAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0180 a0001c0003t0002g0180	1	308	0.0033	41	c.180 others(58): Show c.180+7234_180+7235insGTTGACTGCTCCCCCCAGGTCACCACTC TCCAGGCACAACT	UBQLN1	ENSG00000135018.14	transcript	ENST00000376395.9	protein_coding	1/10			chr9	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0183 a0001c0002t0007g0183	1	324	0.0031	41	c.545 others(58): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATATATTTTTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831128	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0124 a0001c0002t0007g0124	1	324	0.0031	41	c.545 others(58): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATATATATATA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38			chr2	TogoVar
UBR3_chr2_169822454_170089131	169983107	A A	ATGCAAGG others(34): Show ATGCAAGGTGGAGTTGAGAGTGAGAGCAAGAGAGAGAAACTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00642.hp1 others(50): Show HG00099.hp1 HG00438.hp1 HG00642.hp1 HG01123.hp2 HG01168.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02300.hp1 HG02523.hp2 HG02622.hp2 HG02738.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03688.hp1 HG04199.hp2 NA18522.hp2 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18979.hp1 NA18988.hp1 NA18991.hp2 NA19007.hp1 NA19060.hp1 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0004 a0002c0011 others(1): Show a0001c0003 a0002c0004 a0002c0011 a0003c0012	a0001c0003t0003 a0001c0003t0006 a0001c0003t0018 others(6): Show a0001c0003t0003 a0001c0003t0006 a0001c0003t0018 a0001c0003t0031 a0002c0004t0004 a0002c0004t0019 a0002c0004t0023 a0002c0011t0004 a0003c0012t0004	a0001c0003t0003g0229 a0001c0003t0003g0230 a0001c0003t0003g0232 others(50): Show a0001c0003t0003g0229 a0001c0003t0003g0230 a0001c0003t0003g0232 a0001c0003t0003g0233 a0001c0003t0003g0234 a0001c0003t0003g0235 a0001c0003t0003g0241 a0001c0003t0003g0242 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0003t0003g0320 a0001c0003t0003g0321 a0001c0003t0003g0322 a0001c0003t0006g0231 a0001c0003t0006g0236 a0001c0003t0006g0237 a0001c0003t0018g0240 a0001c0003t0031g0319 a0002c0004t0004g0223 a0002c0004t0004g0224 a0002c0004t0004g0281 a0002c0004t0004g0282 a0002c0004t0004g0283 a0002c0004t0004g0284 a0002c0004t0004g0286 a0002c0004t0004g0287 a0002c0004t0004g0288 a0002c0004t0004g0290 a0002c0004t0004g0291 a0002c0004t0004g0292 a0002c0004t0004g0294 a0002c0004t0004g0296 a0002c0004t0004g0297 a0002c0004t0004g0298 a0002c0004t0004g0299 a0002c0004t0004g0302 a0002c0004t0004g0303 a0002c0004t0004g0304 a0002c0004t0004g0311 a0002c0004t0004g0312 a0002c0004t0004g0313 a0002c0004t0004g0314 a0002c0004t0004g0315 a0002c0004t0004g0317 a0002c0004t0019g0295 a0002c0004t0019g0316 a0002c0004t0023g0318 a0002c0011t0004g0285 a0002c0011t0004g0289 a0002c0011t0004g0300 a0003c0012t0004g0293 a0003c0012t0004g0301	53	324	0.1636	41	c.363 others(60): Show c.3635-3510_3635-3470dupAGAGAGAGAAACTGTGCAAGGTGGAG TTGAGAGTGAGAGCA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT2B7_chr4_69091474_69117987	69114987	G G	GTTTACAA others(34): Show GTTTACAAACCTTGAGCTAAATACAGAGTGCTGATTGGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(301): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 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 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0003 a0001c0005 others(15): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0002c0002 a0002c0006 a0002c0009 a0003c0004 a0004c0007 a0005c0012 a0006c0019 a0008c0013 a0009c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0011t0001 a0001c0014t0002 a0001c0016t0001 a0001c0017t0008 a0001c0018t0001 a0002c0002t0001 a0002c0006t0002 a0002c0009t0003 a0003c0004t0001 a0004c0007t0004 a0005c0012t0001 a0006c0019t0005 a0008c0013t0001 a0009c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(84): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0057 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0006g0004 a0001c0001t0006g0079 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0017 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0088 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0003g0016 a0001c0003t0003g0067 a0001c0003t0003g0095 a0001c0003t0004g0014 a0001c0005t0001g0003 a0001c0005t0001g0007 a0001c0005t0001g0009 a0001c0005t0001g0034 a0001c0005t0001g0075 a0001c0005t0001g0077 a0001c0005t0001g0081 a0001c0005t0001g0082 a0001c0005t0001g0083 a0001c0005t0002g0007 a0001c0008t0001g0027 a0001c0008t0001g0086 a0001c0011t0001g0085 a0001c0011t0001g0089 a0001c0011t0001g0099 a0001c0014t0002g0007 a0001c0016t0001g0094 a0001c0017t0008g0093 a0001c0018t0001g0005 a0002c0002t0001g0042 a0002c0006t0002g0015 a0002c0006t0002g0024 a0002c0009t0003g0050 a0002c0009t0003g0051 a0002c0009t0003g0052 a0003c0004t0001g0003 a0003c0004t0001g0021 a0003c0004t0001g0074 a0004c0007t0004g0014 a0004c0007t0004g0096 a0005c0012t0001g0013 a0006c0019t0005g0087 a0008c0013t0001g0101 a0009c0020t0001g0010	304	424	0.7170	41	c.22 others(52): Show c.2251_*2252insTTTACAAACCTTGAGCTAAATACAGAGTGCTGAT TGGTGTA	UGT2B7	ENSG00000171234.14	transcript	ENST00000305231.12	protein_coding		2001		chr4	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	410	0.0024	41	c.-10 others(52): Show c.-1077_-1076insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
ULK4_chr3_41241599_41967103	41475968	G G	GAGGGAGG others(34): Show GAGGGAGGGAGGCATGGGAGGGCAGGAGAGAAGGAGGGAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02572.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0030 a0001c0001t0001g0032	2	72	0.0278	41	c.322 others(62): Show c.3227-12756_3227-12716dupTTTTCCCTCCTTCTCTCCTGCCCT CCCATGCCTCCCTCCCT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41746272	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0002 a0010c0008t0002	a0010c0008t0002g0020 a0010c0008t0002g0020	1	72	0.0139	41	c.232 others(60): Show c.2321+8088_2321+8089insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	22/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41890887	G G	GGAAGGGA others(34): Show GGAAGGGACGGGAGCGGGGAAGGAAGGGACAGGAGGGGGAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0022 a0012c0017t0001g0022	1	72	0.0139	41	c.157 others(60): Show c.1577+4630_1577+4631insTTTCCCCCTCCTGTCCCTTCCTTCCC CGCTCCCGTCCCTTC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19057.hp2 NA19010.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0151 a0001c0001t0001g0118 a0001c0001t0001g0151	2	224	0.0089	41	c.152 others(56): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54250752	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	158	0.0063	41	c.344 others(58): Show c.3448+308_3448+309insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	8/32			chr15	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(34): Show ATATATTTATATATTATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0042 a0006c0042	a0006c0042t0003 a0006c0042t0003	a0006c0042t0003g0158 a0006c0042t0003g0158	1	204	0.0049	41	c.213 others(60): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
USH2A_chr1_215617891_216428448	216231249	T T	TTATATAT others(34): Show TTATATATATAATATATATATATTATATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG02572.hp1 others(6): Show HG01192.hp2 HG02055.hp2 HG02572.hp1 HG02896.hp1 HG03195.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2 NA20129.hp1	a0006 a0009 a0033 others(6): Show a0006 a0009 a0033 a0036 a0065 a0066 a0068 a0070 a0072	a0006c0051 a0009c0053 a0033c0006 others(6): Show a0006c0051 a0009c0053 a0033c0006 a0036c0044 a0065c0014 a0066c0027 a0068c0025 a0070c0026 a0072c0023	a0006c0051t0001 a0009c0053t0001 a0033c0006t0014 others(6): Show a0006c0051t0001 a0009c0053t0001 a0033c0006t0014 a0036c0044t0002 a0065c0014t0003 a0066c0027t0002 a0068c0025t0001 a0070c0026t0001 a0072c0023t0004	a0006c0051t0001g0065 a0009c0053t0001g0062 a0033c0006t0014g0007 others(6): Show a0006c0051t0001g0065 a0009c0053t0001g0062 a0033c0006t0014g0007 a0036c0044t0002g0073 a0065c0014t0003g0006 a0066c0027t0002g0042 a0068c0025t0001g0040 a0070c0026t0001g0038 a0072c0023t0004g0013	9	74	0.1216	41	c.299 others(58): Show c.2993+703_2993+704insTATATATATTATATATATAATATATATA TATTATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	14/71			chr1	TogoVar
USP15_chr12_62255404_62421389	62257162	A A	ATGTGTGT others(34): Show ATGTGTGTGTATATGTATATATACACAATGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02572.hp2 HG03225.hp2 others(2): Show HG00642.hp2 HG02572.hp2 HG03225.hp2 HG03927.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0028 a0001c0002t0001 a0001c0002t0028	a0001c0002t0001g0023 a0001c0002t0001g0037 a0001c0002t0001g0060 others(2): Show a0001c0002t0001g0023 a0001c0002t0001g0037 a0001c0002t0001g0060 a0001c0002t0001g0078 a0001c0002t0028g0091	5	348	0.0144	41	c.-32 others(52): Show c.-3253_-3252insTGTGTGTGTATATGTATATATACACAATGTGTGT GTGTGTG	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3241		chr12	TogoVar
USP15_chr12_62255404_62421389	62257162	A A	ATGTGTGT others(34): Show ATGTGTGTGTATATGTATATATACACAATGTGTTTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	348	0.0029	41	c.-32 others(52): Show c.-3253_-3252insTGTGTGTGTATATGTATATATACACAATGTGTTT GTGTGTG	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3241		chr12	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	252	0.0040	41	c.-77 others(60): Show c.-77+25840_-77+25841insAAAAATATATATATATATATATATAT ATATATATATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP40_chr2_233470526_233571782	233567318	T T	TATAACCT others(34): Show TATAACCTTATATAAGATTATAGCTATATAACCTTATATAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00621.hp2 others(7): Show HG00140.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG02132.hp1 HG02572.hp1 NA18612.hp1 NA18968.hp2 NA18983.hp2 NA19068.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0005c0005t0006 a0010c0017t0006	a0001c0001t0001g0235 a0001c0001t0001g0268 a0001c0001t0002g0210 others(7): Show a0001c0001t0001g0235 a0001c0001t0001g0268 a0001c0001t0002g0210 a0002c0002t0001g0272 a0005c0005t0006g0007 a0005c0005t0006g0008 a0005c0005t0006g0010 a0005c0005t0006g0011 a0005c0005t0006g0013 a0010c0017t0006g0012	10	324	0.0309	41	c.-65 others(50): Show c.-655_-654insCTTATATAAGGTTATATAGCTATAATCTTATATAAG GTTAT	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		537		chr2	TogoVar
USP46_chr4_52585960_52664301	52632980	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	192	0.0052	41	c.37- others(56): Show c.37-1837_37-1836insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP54_chr10_73492538_73596342	73569902	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01175.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0120 a0001c0006t0001g0103 a0001c0001t0001g0120 a0001c0006t0001g0103	2	196	0.0102	41	c.240 others(58): Show c.240+1518_240+1519insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	USP54	ENSG00000166348.20	transcript	ENST00000687698.1	protein_coding	4/23			chr10	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	338	0.0030	41	c.271 others(58): Show c.2719-628_2719-627insATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP8_chr15_50419405_50519421	50450462	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0143 a0002c0003t0143	a0002c0003t0143g0095 a0002c0003t0143g0095	1	382	0.0026	41	c.335 others(58): Show c.335+1001_335+1002insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP9X_chrX_41080445_41241579	41161635	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	293	0.0034	41	c.189 others(60): Show c.1898-1132_1898-1131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0039 a0004c0009t0001g0039	1	356	0.0028	41	c.223 others(58): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TTTTTTTT others(34): Show TTTTTTTTTTTTTTTTTTTTTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0009	1	128	0.0078	41	c.765 others(60): Show c.7653-9991_7653-9990insTTTTTTTTTTTTTTTTTTTGTGTGTG TGTGTGTGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UVSSA_chr4_1342208_1393049	1349061	C C	CGTTTGTG others(34): Show CGTTTGTGCCGGGCGGTGGGCGTTTGTGCCGGGCGGTGTACG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(124): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03927.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp2 NA18986.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19078.hp2 NA19082.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0008 a0014 a0015 a0016 a0018 a0021 a0022	a0001c0003 a0001c0005 a0001c0024 others(14): Show a0001c0003 a0001c0005 a0001c0024 a0002c0001 a0003c0007 a0003c0013 a0003c0014 a0004c0006 a0005c0008 a0008c0015 a0008c0025 a0014c0031 a0015c0029 a0016c0028 a0018c0026 a0021c0022 a0022c0027	a0001c0003t0004 a0001c0003t0010 a0001c0003t0032 others(33): Show a0001c0003t0004 a0001c0003t0010 a0001c0003t0032 a0001c0003t0038 a0001c0003t0040 a0001c0003t0048 a0001c0003t0049 a0001c0003t0050 a0001c0005t0003 a0001c0005t0017 a0001c0005t0018 a0001c0005t0022 a0001c0005t0024 a0001c0005t0027 a0001c0005t0029 a0001c0005t0030 a0001c0024t0025 a0002c0001t0001 a0002c0001t0010 a0003c0007t0014 a0003c0013t0012 a0003c0014t0028 a0004c0006t0006 a0004c0006t0009 a0004c0006t0012 a0004c0006t0020 a0005c0008t0003 a0005c0008t0031 a0008c0015t0014 a0008c0025t0047 a0014c0031t0004 a0015c0029t0003 a0016c0028t0009 a0018c0026t0046 a0021c0022t0003 a0022c0027t0025	a0001c0003t0004g0006 a0001c0003t0004g0011 a0001c0003t0004g0012 others(115): Show a0001c0003t0004g0006 a0001c0003t0004g0011 a0001c0003t0004g0012 a0001c0003t0004g0013 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0037 a0001c0003t0004g0049 a0001c0003t0004g0050 a0001c0003t0004g0051 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0055 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0058 a0001c0003t0004g0059 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0066 a0001c0003t0004g0067 a0001c0003t0004g0068 a0001c0003t0004g0070 a0001c0003t0004g0071 a0001c0003t0004g0072 a0001c0003t0004g0073 a0001c0003t0004g0074 a0001c0003t0004g0076 a0001c0003t0004g0077 a0001c0003t0004g0078 a0001c0003t0004g0079 a0001c0003t0004g0080 a0001c0003t0004g0081 a0001c0003t0004g0333 a0001c0003t0010g0342 a0001c0003t0010g0343 a0001c0003t0032g0303 a0001c0003t0038g0344 a0001c0003t0040g0341 a0001c0003t0048g0075 a0001c0003t0049g0082 a0001c0003t0050g0036 a0001c0005t0003g0025 a0001c0005t0003g0026 a0001c0005t0003g0027 a0001c0005t0003g0028 a0001c0005t0003g0284 a0001c0005t0003g0287 a0001c0005t0003g0290 a0001c0005t0003g0291 a0001c0005t0003g0292 a0001c0005t0003g0293 a0001c0005t0003g0294 a0001c0005t0003g0296 a0001c0005t0003g0297 a0001c0005t0003g0298 a0001c0005t0003g0299 a0001c0005t0003g0301 a0001c0005t0003g0304 a0001c0005t0003g0306 a0001c0005t0003g0307 a0001c0005t0003g0308 a0001c0005t0003g0309 a0001c0005t0003g0310 a0001c0005t0003g0311 a0001c0005t0003g0312 a0001c0005t0003g0313 a0001c0005t0003g0314 a0001c0005t0003g0315 a0001c0005t0003g0317 a0001c0005t0003g0318 a0001c0005t0003g0319 a0001c0005t0003g0323 a0001c0005t0003g0324 a0001c0005t0003g0325 a0001c0005t0003g0327 a0001c0005t0003g0328 a0001c0005t0003g0331 a0001c0005t0017g0289 a0001c0005t0017g0329 a0001c0005t0018g0316 a0001c0005t0018g0330 a0001c0005t0022g0286 a0001c0005t0024g0024 a0001c0005t0027g0320 a0001c0005t0029g0302 a0001c0005t0030g0285 a0001c0024t0025g0006 a0002c0001t0001g0339 a0002c0001t0010g0340 a0003c0007t0014g0045 a0003c0013t0012g0321 a0003c0013t0012g0322 a0003c0014t0028g0295 a0004c0006t0006g0168 a0004c0006t0009g0039 a0004c0006t0009g0042 a0004c0006t0009g0043 a0004c0006t0012g0288 a0004c0006t0020g0040 a0004c0006t0020g0041 a0005c0008t0003g0029 a0005c0008t0003g0326 a0005c0008t0031g0332 a0008c0015t0014g0047 a0008c0015t0014g0048 a0008c0025t0047g0046 a0014c0031t0004g0069 a0015c0029t0003g0305 a0016c0028t0009g0044 a0018c0026t0046g0038 a0021c0022t0003g0300 a0022c0027t0025g0006	127	400	0.3175	41	c.99- others(54): Show c.99-425_99-424insACGGTTTGTGCCGGGCGGTGGGCGTTTGTGCC GGGCGGTGT	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VAV1_chr19_6767708_6862361	6789593	C C	CTCCCTTC others(34): Show CTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	306	0.0033	41	c.204 others(60): Show c.204+16585_204+16586insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(34): Show CCTTCCTTCCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0089	1	306	0.0033	41	c.205 others(58): Show c.205-6028_205-6027insCCTTCCTTTCCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV2_chr9_133756894_133997324	133827552	G G	GCTACTGC others(34): Show GCTACTGCTGTGCCCACTGAGGCTGACCACGGGCATCGCCAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0146 a0002c0005t0001g0146	1	200	0.0050	41	c.449 others(58): Show c.449+6719_449+6720insTTGGCGATGCCCGTGGTCAGCCTCAGTG GGCACAGCAGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCX2_chrX_8164944_8176267	8169657	T T	TCCTCCCT others(34): Show TCCTCCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	41	c.37 others(50): Show c.374_*375insGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		286		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169756	T T	TCCTCCCT others(34): Show TCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0019 a0002c0001t0007g0019	1	115	0.0087	41	c.27 others(50): Show c.275_*276insGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		187		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467154	G G	GGGGAGGG others(34): Show GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0074 a0074	a0074c0091 a0074c0091	a0074c0091t0010 a0074c0091t0010	a0074c0091t0010g0012 a0074c0091t0010g0012	1	271	0.0037	41	c.77 others(50): Show c.771_*772insGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		645		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467213	G G	GGGGAGGG others(34): Show GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG01891.hp1 HG02622.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0007 a0009c0009t0024 a0009c0009t0007 a0009c0009t0024	a0009c0009t0007g0008 a0009c0009t0024g0008 a0009c0009t0007g0008 a0009c0009t0024g0008	2	271	0.0074	41	c.83 others(50): Show c.830_*831insGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		704		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02040.hp1 HG02300.hp2 others(3): Show HG01978.hp2 HG02040.hp1 HG02300.hp2 HG03130.hp1 HG03471.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0162 a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0162	6	328	0.0183	41	c.375 others(54): Show c.375-61_375-60insAGAGAGAGAGAGAGAGAGACAGAGACAGACAG AGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGACAGACA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	328	0.0031	41	c.375 others(54): Show c.375-61_375-60insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC AGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VIPR2_chr7_159023175_159149867	159129908	G G	GCCAGGTG others(34): Show GCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG01074.hp1 others(24): Show HG00140.hp2 HG00673.hp2 HG01074.hp1 HG01361.hp1 HG01884.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02615.hp1 HG02647.hp1 HG02895.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 NA19043.hp1 NA19057.hp2 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0027 others(3): Show a0001c0001 a0001c0004 a0001c0027 a0001c0028 a0001c0029 a0002c0018	a0001c0001t0001 a0001c0004t0004 a0001c0004t0007 others(7): Show a0001c0001t0001 a0001c0004t0004 a0001c0004t0007 a0001c0004t0011 a0001c0004t0038 a0001c0027t0006 a0001c0028t0057 a0001c0029t0008 a0002c0018t0004 a0002c0018t0015	a0001c0001t0001g0099 a0001c0004t0004g0019 a0001c0004t0004g0021 others(24): Show a0001c0001t0001g0099 a0001c0004t0004g0019 a0001c0004t0004g0021 a0001c0004t0004g0178 a0001c0004t0004g0181 a0001c0004t0004g0182 a0001c0004t0004g0183 a0001c0004t0004g0191 a0001c0004t0004g0214 a0001c0004t0004g0305 a0001c0004t0004g0306 a0001c0004t0004g0307 a0001c0004t0004g0309 a0001c0004t0004g0310 a0001c0004t0004g0311 a0001c0004t0004g0326 a0001c0004t0007g0177 a0001c0004t0011g0167 a0001c0004t0011g0208 a0001c0004t0011g0316 a0001c0004t0011g0325 a0001c0004t0038g0151 a0001c0027t0006g0184 a0001c0028t0057g0331 a0001c0029t0008g0020 a0002c0018t0004g0308 a0002c0018t0015g0150	27	336	0.0804	41	c.151 others(60): Show c.151+12537_151+12538insAGGCCAGTTTGAGGGAACAGAGTGTG AAGCTGGTCACCTGG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159129908	G G	GTCAGGTG others(34): Show GTCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0315 a0001c0005t0013g0315	1	336	0.0030	41	c.151 others(60): Show c.151+12537_151+12538insAGGCCAGTTTGAGGGAACAGAGTGTG AAGCTGGTCACCTGA	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VNN2_chr6_132738870_132762904	132758040	T T	TTCTTCTT others(34): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0064 a0002c0004t0001g0064	1	436	0.0023	41	c.-15 others(50): Show c.-158_-157insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		137		chr6	TogoVar
VPS13B_chr8_99008274_99882580	99270131	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0063 a0003c0007t0005g0063	1	134	0.0075	41	c.251 others(60): Show c.2516-4041_2516-4040insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS53_chr17_503668_719839	648644	A A	AACTGAAG others(34): Show AACTGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02622.hp1 others(5): Show HG01109.hp2 HG01884.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0029 a0001c0001t0087 others(3): Show a0001c0001t0028 a0001c0001t0029 a0001c0001t0087 a0001c0001t0088 a0001c0001t0097 a0001c0001t0105	a0001c0001t0028g0196 a0001c0001t0028g0197 a0001c0001t0029g0150 others(5): Show a0001c0001t0028g0196 a0001c0001t0028g0197 a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0087g0198 a0001c0001t0088g0152 a0001c0001t0097g0199 a0001c0001t0105g0201	8	232	0.0345	41	c.608 others(58): Show c.608+4606_608+4646dupGCCTGTTCCATTCCTCTGTCCTCCAGTG TAAGATCTTCAGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS53_chr17_503668_719839	648750	C C	CAGAGGAA others(34): Show CAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGAGGAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 HG03516.hp2 others(7): Show HG02135.hp2 HG02602.hp1 HG03516.hp2 NA18747.hp1 NA18960.hp2 NA18994.hp2 NA19000.hp2 NA19010.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0078 a0001c0005t0010 a0001c0005t0019 others(5): Show a0001c0002t0078 a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 a0001c0005t0042 a0001c0005t0044 a0001c0005t0045 a0001c0005t0046	a0001c0002t0078g0041 a0001c0005t0010g0008 a0001c0005t0019g0006 others(7): Show a0001c0002t0078g0041 a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 a0001c0005t0020g0005 a0001c0005t0020g0010 a0001c0005t0042g0044 a0001c0005t0044g0096 a0001c0005t0045g0009 a0001c0005t0046g0011	10	232	0.0431	41	c.608 others(58): Show c.608+4540_608+4541insATCCTCCAGTGTAAGATCTTCAGTGCCT GTTCCATTCCTCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS53_chr17_503668_719839	648802	A A	AACAGGTA others(34): Show AACAGGTAATGAAGATCTTACACTGGAGGACAGAGGAATGGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18946.hp1 NA18955.hp1 others(1): Show HG00621.hp1 NA18946.hp1 NA18955.hp1 NA19066.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0009 a0002c0003 a0005c0009	a0002c0003t0018 a0005c0009t0130 a0005c0009t0137 others(1): Show a0002c0003t0018 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147	a0002c0003t0018g0214 a0005c0009t0130g0178 a0005c0009t0137g0189 others(1): Show a0002c0003t0018g0214 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177	4	232	0.0172	41	c.608 others(58): Show c.608+4448_608+4488dupACCATTCCTCTGTCCTCCAGTGTAAGAT CTTCATTACCTGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar

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