Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UGT1A9_chr2_233666898_233778300	233724254	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0188 a0001c0014t0003g0188	1	318	0.0031	-49	c.856 others(68): Show c.856-42756_856-42708delGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UIMC1_chr5_176900006_177011779	176961860	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCGGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	330	0.0030	-49	c.120 others(68): Show c.1201-3755_1201-3707delGGGGGGCCGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	6/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176962264	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	330	0.0030	-49	c.120 others(68): Show c.1201-4159_1201-4111delGGGGGGCTGACCCCCCCACCTCCCTC GCGGACGGGGCGGCTGGCCGGGC	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	6/14			chr5	TogoVar
ULK3_chr15_74831118_74848156	74837475	CACACGAG others(42): Show CACACGAGCCACAGCGCAGTGCCGAGCAAGTGAGAGAGTGAAGGACGGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(270): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0001 a0002c0006 a0002c0008 a0002c0013 a0003c0005 a0003c0011 a0004c0018 a0006c0014 a0007c0012 a0008c0010	a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 others(15): Show a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0008 a0001c0007t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0006t0001 a0002c0008t0002 a0002c0013t0001 a0003c0005t0001 a0003c0011t0006 a0004c0018t0001 a0006c0014t0001 a0007c0012t0001 a0008c0010t0001	a0001c0002t0002g0038 a0001c0003t0001g0002 a0001c0003t0001g0009 others(42): Show a0001c0002t0002g0038 a0001c0003t0001g0002 a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0017 a0001c0003t0001g0024 a0001c0003t0001g0027 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0049 a0001c0003t0001g0067 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0004t0001g0006 a0001c0004t0001g0050 a0001c0004t0001g0057 a0001c0004t0008g0056 a0001c0007t0001g0033 a0001c0007t0001g0078 a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0013 a0002c0001t0001g0026 a0002c0001t0001g0046 a0002c0001t0001g0052 a0002c0001t0001g0054 a0002c0001t0001g0061 a0002c0001t0001g0066 a0002c0001t0001g0075 a0002c0001t0003g0036 a0002c0001t0004g0025 a0002c0001t0007g0064 a0002c0006t0001g0016 a0002c0008t0002g0019 a0002c0013t0001g0053 a0003c0005t0001g0008 a0003c0011t0006g0034 a0004c0018t0001g0068 a0006c0014t0001g0070 a0007c0012t0001g0051 a0008c0010t0001g0048	273	440	0.6205	-49	c.133 others(64): Show c.1336-89_1336-41delCCCCGTCCTTCACTCTCTCACTTGCTCGGC ACTGCGCTGTGGCTCGTGT	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding	14/15			chr15	TogoVar
ULK3_chr15_74831118_74848156	74837554	TGAGAGAG others(42): Show TGAGAGAGTGAAGGACGGGGACACGAGCCACAGCGCAGTGCCGAGCAAGA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0060 a0002c0001t0001g0060	1	440	0.0023	-49	c.133 others(66): Show c.1335+148_1336-120delTCTTGCTCGGCACTGCGCTGTGGCTCGT GTCCCCGTCCTTCACTCTCTC	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding	14/15			chr15	TogoVar
UMOD_chr16_20328051_20357715	20353471	GAGAATAC others(42): Show GAGAATACCCATCTCCCACAGTAGTAATAGTAACCAAAGGAGATGATGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	404	0.0025	-49	c.-93 others(58): Show c.-934_-886delTGCATCATCTCCTTTGGTTACTATTACTACTGTGGG AGATGGGTATTCT	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding		757		chr16	TogoVar
UMPS_chr3_124725452_124754273	124750392	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0040 a0001c0001t0076g0040	1	434	0.0023	-49	c.63 others(60): Show c.6309_*6357delCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGCTGA	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		1120		chr3	TogoVar
UNC5B_chr10_71207570_71307864	71296909	GCAGATAT others(42): Show GCAGATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG02717.hp1 others(3): Show HG00735.hp1 HG01106.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0019 a0001c0001t0069 a0001c0003t0019 others(2): Show a0001c0001t0019 a0001c0001t0069 a0001c0003t0019 a0001c0009t0035 a0001c0009t0076	a0001c0001t0019g0320 a0001c0001t0069g0206 a0001c0003t0019g0261 others(3): Show a0001c0001t0019g0320 a0001c0001t0069g0206 a0001c0003t0019g0261 a0001c0009t0035g0007 a0001c0009t0035g0360 a0001c0009t0076g0007	6	368	0.0163	-49	c.249 others(66): Show c.2490+178_2490+226delAGCTGCACACCACGCTGGCGGAGGTGAG GGAAGGGCGGCCAGATATTCC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296933	GCTGGCGG others(42): Show GCTGGCGGAGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACACCACT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18979.hp1 NA19011.hp2 HG02040.hp2 NA18979.hp1 NA19011.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0064 a0001c0004t0003g0207 a0001c0004t0003g0236 a0001c0004t0003g0064 a0001c0004t0003g0207 a0001c0004t0003g0236	3	368	0.0082	-49	c.249 others(66): Show c.2490+196_2490+244delCGGAGGTGAGGGAAGGGCGGCCAGATAT TCCGGCTGCACACCACTCTGG	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296938	CGGAGGTG others(42): Show CGGAGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACACCACTCTGGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA20129.hp2 NA21309.hp1 HG00597.hp2 NA20129.hp2 NA21309.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0013c0052 a0001c0001 a0001c0002 a0013c0052	a0001c0001t0031 a0001c0002t0072 a0013c0052t0002 a0001c0001t0031 a0001c0002t0072 a0013c0052t0002	a0001c0001t0031g0336 a0001c0002t0072g0111 a0013c0052t0002g0268 a0001c0001t0031g0336 a0001c0002t0072g0111 a0013c0052t0002g0268	3	368	0.0082	-49	c.249 others(66): Show c.2490+236_2490+284delCCACTCTGGTGGAGGTGAGGGAAGGGCG GCCAGATATTCCGGCTGCACA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71297018	GGCTGCAC others(42): Show GGCTGCACAGCACTGTGGCATAGGTGAGGGAAGGGCCGCCAGATATTCCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18941.hp2 NA18966.hp2 HG00408.hp2 NA18941.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0013 a0001c0003t0008 a0001c0003t0013 a0001c0002t0013 a0001c0003t0008 a0001c0003t0013	a0001c0002t0013g0052 a0001c0003t0008g0223 a0001c0003t0013g0225 a0001c0002t0013g0052 a0001c0003t0008g0223 a0001c0003t0013g0225	3	368	0.0082	-49	c.249 others(66): Show c.2490+285_2490+333delGCACTGTGGCATAGGTGAGGGAAGGGCC GCCAGATATTCCAGCTGCACA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UPP2_chr2_158096876_158141154	158104932	GAAGGGAA others(42): Show GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0052	1	342	0.0029	-49	c.63- others(64): Show c.63-1166_63-1118delAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGA	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6			chr2	TogoVar
UROC1_chr3_126476166_126522773	126480847	CTTCTGTC others(42): Show CTTCTGTCTCTGCCCCTCTCTGTAACACTCTCCCCTCTCTGTCTCTGTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	380	0.0026	-49	c.14 others(60): Show c.1449_*1497delAGACAGAGACAGAGAGGGGAGAGTGTTACAGAGA GGGGCAGAGACAGAA	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding		318		chr3	TogoVar
USP13_chr3_179648040_179794401	179728055	GGCTGGCC others(42): Show GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	300	0.0033	-49	c.108 others(68): Show c.1089-2122_1089-2074delGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCAGCTGGCCGGGC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
VAPB_chr20_58384229_58456101	58413977	GGGGCAGC others(42): Show GGGGCAGCTGGCCGGGCGGGGGGCTGACCCCGCCACCTCCCTCCCAGATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(77): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG01081.hp1 HG01106.hp2 HG01243.hp2 HG01884.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03195.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18999.hp1 NA19000.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19030.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19076.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0030 a0001c0001t0031 a0001c0001t0059 a0001c0001t0060 a0001c0001t0070 a0001c0001t0071	a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0030 others(75): Show a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0030 a0001c0001t0002g0071 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0357 a0001c0001t0006g0058 a0001c0001t0006g0142 a0001c0001t0006g0145 a0001c0001t0006g0148 a0001c0001t0006g0159 a0001c0001t0006g0224 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0268 a0001c0001t0006g0270 a0001c0001t0009g0141 a0001c0001t0009g0144 a0001c0001t0009g0147 a0001c0001t0009g0152 a0001c0001t0009g0169 a0001c0001t0009g0174 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0030g0158 a0001c0001t0030g0259 a0001c0001t0031g0143 a0001c0001t0059g0035 a0001c0001t0060g0172 a0001c0001t0070g0255 a0001c0001t0071g0256	80	370	0.2162	-49	c.59- others(64): Show c.59-4229_59-4181delAGCTGGCCGGGCGGGGGGCTGACCCCGCCA CCTCCCTCCCAGATAGGGC	VAPB	ENSG00000124164.16	transcript	ENST00000475243.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
VAV2_chr9_133756894_133997324	133792281	ATGTGAGC others(42): Show ATGTGAGCGAGCTGTGCTGGGTGGGGTATGTGTGTGTGATTGTGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0010 a0001c0019t0010	a0001c0019t0010g0090 a0001c0019t0010g0090	1	200	0.0050	-49	c.110 others(66): Show c.1102-461_1102-413delCATACACACAATCACACACACATACCCC ACCCAGCACAGCTCGCTCACA	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	12/29			chr9	TogoVar
VCAM1_chr1_100714742_100744045	100743208	GTTTTGGT others(42): Show GTTTTGGTATAAGTAATGCTAGCCTCATAGAATGAGTTGGAAAATATTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	446	0.0022	-49	c.49 others(60): Show c.4926_*4974delTTTTGGTATAAGTAATGCTAGCCTCATAGAATGA GTTGGAAAATATTTC	VCAM1	ENSG00000162692.12	transcript	ENST00000294728.7	protein_coding		4164		chr1	TogoVar
VGLL4_chr3_11551069_11648915	11573228	CAGAAAGA others(42): Show CAGAAAGAAAAGAAATAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0258 a0001c0002t0002g0258	1	388	0.0026	-49	c.273 others(66): Show c.273-8258_273-8210delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTATTTCTTTTCTTTCT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573262	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	388	0.0026	-49	c.273 others(66): Show c.273-8292_273-8244delCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573311	GGAAGGAA others(42): Show GGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0383 a0001c0001t0002g0383	1	388	0.0026	-49	c.273 others(66): Show c.273-8341_273-8293delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCCTTC	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VIPR2_chr7_159023175_159149867	159119846	ACCTGTCC others(42): Show ACCTGTCCCCCTTGATGCACGAAGCCTGGTAGGTGGGGTTGGAAGAAACG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0084 a0001c0001t0018g0084	1	336	0.0030	-49	c.152 others(66): Show c.152-9976_152-9928delCGTTTCTTCCAACCCCACCTACCAGGCT TCGTGCATCAAGGGGGACAGG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VOPP1_chr7_55465613_55577502	55577447	TTGCGATA others(42): Show TTGCGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0253 a0001c0002t0004g0253	1	318	0.0031	-49	c.-51 others(60): Show c.-5172_-5124delTAGGGACATGGATGAAGCTGGAAACCATCATTCT CAGCAAACTATCGCA	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding		4946		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720487	TATATATA others(42): Show TATATATATATATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0016 a0003c0010t0016	a0003c0010t0016g0075 a0003c0010t0016g0075	1	278	0.0036	-49	c.57 others(60): Show c.5710_*5758delTATATATATATATATATATATATATATATATATA TATATATATATATAT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2486		chr7	TogoVar
VPS53_chr17_503668_719839	548332	AGAATCAT others(42): Show AGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18959.hp2 NA18962.hp2 others(6): Show HG02135.hp1 NA18959.hp2 NA18962.hp2 NA18979.hp1 NA19007.hp1 NA19009.hp1 NA19065.hp1 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 others(2): Show a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0048 a0001c0002t0058	a0001c0002t0005g0061 a0001c0002t0007g0058 a0001c0002t0007g0062 others(6): Show a0001c0002t0005g0061 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0010g0057 a0001c0002t0010g0087 a0001c0002t0048g0089 a0001c0002t0058g0052	9	232	0.0388	-49	c.186 others(68): Show c.1866+3491_1866+3539delCAGAAGGACTGTTGGCTGGCCAAAGT GGAGTGTAGTCATTGGATGATTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548386	CATCCAAT others(42): Show CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0022 a0003c0004t0022	a0003c0004t0022g0004 a0003c0004t0022g0004	1	232	0.0043	-49	c.186 others(68): Show c.1866+3437_1866+3485delATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCATTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548393	TGACTACA others(42): Show TGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02056.hp2 HG02074.hp2 others(20): Show HG01255.hp2 HG02056.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG03831.hp2 HG04199.hp2 NA18747.hp1 NA18944.hp1 NA18945.hp2 NA18960.hp2 NA18978.hp2 NA18983.hp2 NA18987.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19009.hp2 NA19010.hp2 NA19060.hp1 NA19068.hp2 NA19087.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0006c0012	a0001c0001t0002 a0001c0001t0016 a0001c0001t0107 others(17): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0107 a0001c0001t0116 a0001c0001t0119 a0001c0001t0121 a0001c0001t0128 a0001c0002t0043 a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 a0001c0005t0042 a0001c0005t0044 a0001c0005t0045 a0001c0005t0046 a0002c0003t0089 a0003c0004t0005 a0003c0004t0047 a0003c0004t0060 a0006c0012t0129	a0001c0001t0002g0121 a0001c0001t0002g0137 a0001c0001t0016g0124 others(20): Show a0001c0001t0002g0121 a0001c0001t0002g0137 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0107g0212 a0001c0001t0116g0138 a0001c0001t0119g0144 a0001c0001t0121g0143 a0001c0001t0128g0132 a0001c0002t0043g0064 a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0020g0005 a0001c0005t0020g0010 a0001c0005t0042g0044 a0001c0005t0044g0096 a0001c0005t0045g0009 a0001c0005t0046g0011 a0002c0003t0089g0175 a0003c0004t0005g0030 a0003c0004t0047g0017 a0003c0004t0060g0039 a0006c0012t0129g0140	23	232	0.0991	-49	c.186 others(68): Show c.1866+3430_1866+3478delGTTGGATATTTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548443	GACTACAC others(42): Show GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp1 HG02293.hp1 others(2): Show HG01099.hp1 HG01981.hp1 HG02293.hp1 HG02300.hp1 HG04184.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0008 a0002c0003 a0004c0008	a0002c0003t0008 a0002c0003t0091 a0002c0003t0150 others(1): Show a0002c0003t0008 a0002c0003t0091 a0002c0003t0150 a0004c0008t0035	a0002c0003t0008g0180 a0002c0003t0008g0217 a0002c0003t0091g0209 others(2): Show a0002c0003t0008g0180 a0002c0003t0008g0217 a0002c0003t0091g0209 a0002c0003t0150g0191 a0004c0008t0035g0203	5	232	0.0216	-49	c.186 others(68): Show c.1866+3380_1866+3428delTGTTGGATGATTCCAGAAGGACTGTT GGCTGGCCAAAGTGGAGTGTAGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548492	AACTACAC others(42): Show AACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02886.hp1 homoSapiens_chm13v2.hp1 HG01167.hp2 HG02886.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0014 a0001c0002t0001 a0001c0002t0014	a0001c0002t0001g0056 a0001c0002t0001g0082 a0001c0002t0014g0055 a0001c0002t0001g0056 a0001c0002t0001g0082 a0001c0002t0014g0055	3	232	0.0129	-49	c.186 others(68): Show c.1866+3331_1866+3379delCGTTGGATGATTCCAGAAGGACTGTT GGCTGGCCAAAGTGGAGTGTAGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548533	CATCCAAC others(42): Show CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00741.hp1 others(35): Show HG00280.hp2 HG00438.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01255.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03225.hp1 HG03491.hp2 NA18906.hp1 NA18957.hp2 NA18987.hp1 NA18990.hp2 NA19010.hp1 NA19066.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0014 a0002c0003 a0003c0004 a0004c0008	a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 others(30): Show a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0087 a0001c0001t0088 a0001c0001t0097 a0001c0001t0111 a0001c0001t0112 a0001c0001t0127 a0001c0001t0134 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0049 a0001c0002t0086 a0001c0005t0019 a0001c0006t0057 a0001c0014t0135 a0002c0003t0008 a0002c0003t0017 a0002c0003t0085 a0002c0003t0093 a0002c0003t0099 a0002c0003t0104 a0003c0004t0003 a0003c0004t0054 a0003c0004t0064 a0003c0004t0071 a0003c0004t0081 a0004c0008t0124 a0004c0008t0142	a0001c0001t0017g0158 a0001c0001t0028g0196 a0001c0001t0029g0151 others(35): Show a0001c0001t0017g0158 a0001c0001t0028g0196 a0001c0001t0029g0151 a0001c0001t0031g0153 a0001c0001t0031g0155 a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0087g0198 a0001c0001t0088g0152 a0001c0001t0097g0199 a0001c0001t0111g0164 a0001c0001t0112g0157 a0001c0001t0127g0159 a0001c0001t0134g0154 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0005g0061 a0001c0002t0014g0074 a0001c0002t0049g0048 a0001c0002t0086g0221 a0001c0005t0019g0007 a0001c0006t0057g0103 a0001c0014t0135g0166 a0002c0003t0008g0183 a0002c0003t0017g0179 a0002c0003t0085g0184 a0002c0003t0093g0173 a0002c0003t0099g0192 a0002c0003t0104g0208 a0003c0004t0003g0018 a0003c0004t0003g0036 a0003c0004t0003g0043 a0003c0004t0054g0032 a0003c0004t0064g0042 a0003c0004t0071g0037 a0003c0004t0081g0035 a0004c0008t0124g0229 a0004c0008t0142g0228	38	232	0.1638	-49	c.186 others(68): Show c.1866+3290_1866+3338delATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
WASF2_chr1_27399230_27495167	27449969	TCCCATCT others(42): Show TCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGACAC	T T	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0168 a0001c0001t0043g0168	1	260	0.0039	-49	c.-43 others(68): Show c.-43-21085_-43-21037delGTGTCTGCCACCACACCCAGCTAATT TTTGTATTTTTAGTAGAGATGGG	WASF2	ENSG00000158195.11	transcript	ENST00000618852.5	protein_coding	1/8			chr1	TogoVar
WASHC2C_chr10_45722266_45797964	45778167	CCCAGTCC others(42): Show CCCAGTCCTATCCCAGTCCTGGTCCACACTTGACTCTGACTGGTTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0004 a0029c0039t0004	a0029c0039t0004g0045 a0029c0039t0004g0045	1	380	0.0026	-49	c.229 others(66): Show c.2295+743_2296-737delCCAGTCCTATCCCAGTCCTGGTCCACAC TTGACTCTGACTGGTTGCTGT	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	22/30			chr10	TogoVar
WDFY4_chr10_48679873_48987956	48787844	TCTTCTTC others(42): Show TCTTCTTCTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0029 a0003c0004t0003g0029	1	202	0.0050	-49	c.380 others(66): Show c.3809-670_3809-622delTCTTCTTCTTTCTTCTTTCTTTCTTCTT CTTCTCCTTCTTCTTCTTCTT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	20/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY4_chr10_48679873_48987956	48799338	CAAAAAGG others(42): Show CAAAAAGGGAAAAATGTTTCCCAAATGTCATGTTCTGCCTACACCAAGTA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02145.hp2 others(6): Show HG01243.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG02965.hp2 HG03130.hp1	a0014 a0023 a0042 others(3): Show a0014 a0023 a0042 a0061 a0064 a0068	a0014c0009 a0023c0016 a0042c0052 others(3): Show a0014c0009 a0023c0016 a0042c0052 a0061c0090 a0064c0078 a0068c0082	a0014c0009t0001 a0014c0009t0003 a0023c0016t0002 others(4): Show a0014c0009t0001 a0014c0009t0003 a0023c0016t0002 a0042c0052t0002 a0061c0090t0002 a0064c0078t0004 a0068c0082t0002	a0014c0009t0001g0194 a0014c0009t0003g0022 a0014c0009t0003g0023 others(6): Show a0014c0009t0001g0194 a0014c0009t0003g0022 a0014c0009t0003g0023 a0023c0016t0002g0114 a0023c0016t0002g0116 a0042c0052t0002g0115 a0061c0090t0002g0163 a0064c0078t0004g0162 a0068c0082t0002g0153	9	202	0.0446	-49	c.441 others(68): Show c.4410+2891_4410+2939delAAAGGGAAAAATGTTTCCCAAATGTC ATGTTCTGCCTACACCAAGTAAA	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	24/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR33_chr2_127696027_127816171	127788026	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02615.hp2 HG03486.hp2 others(1): Show HG01175.hp1 HG02615.hp2 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0023 a0001c0001t0003g0035 a0001c0001t0017g0024 others(1): Show a0001c0001t0003g0023 a0001c0001t0003g0035 a0001c0001t0017g0024 a0001c0001t0017g0036	4	318	0.0126	-49	c.-23 others(68): Show c.-23-17071_-23-17023delTGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGG	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	1/21			chr2	TogoVar
WDR33_chr2_127696027_127816171	127788250	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACAGGGCGGCCGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00735.hp2 others(14): Show HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01243.hp2 HG01258.hp2 HG01433.hp1 HG02055.hp1 HG02135.hp2 HG02615.hp1 HG02809.hp2 HG02976.hp1 HG03130.hp2 HG06807.hp1 NA18968.hp2 NA19001.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0002t0019 a0002c0002t0037 others(1): Show a0002c0002t0001 a0002c0002t0019 a0002c0002t0037 a0002c0010t0001	a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 others(14): Show a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0019g0128 a0002c0002t0019g0132 a0002c0002t0037g0129 a0002c0010t0001g0067	17	318	0.0535	-49	c.-23 others(68): Show c.-23-17295_-23-17247delTCAGCCCCCCGCCCGGCCGGCCGCCC TGTCCGGGAGGGAGGTGGGGGGG	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	1/21			chr2	TogoVar
WDR33_chr2_127696027_127816171	127788643	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG03041.hp2 others(3): Show HG02258.hp1 HG02809.hp1 HG03041.hp2 HG03209.hp1 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0011 a0001c0001t0010 a0001c0004t0011	a0001c0001t0010g0012 a0001c0001t0010g0013 a0001c0001t0010g0014 others(3): Show a0001c0001t0010g0012 a0001c0001t0010g0013 a0001c0001t0010g0014 a0001c0004t0011g0152 a0001c0004t0011g0153 a0001c0004t0011g0154	6	318	0.0189	-49	c.-23 others(68): Show c.-23-17688_-23-17640delACCTGGCCAGCCGTGCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCC	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	1/21			chr2	TogoVar
WDR70_chr5_37374318_37758435	37475911	TCTCGGCT others(42): Show TCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCC	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	242	0.0041	-49	c.687 others(66): Show c.687-3922_687-3874delCTCGGCTCACTGCAACCTCCACCTCCCG GGTTCAAGCAATTCTCCTGCC	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	7/17			chr5	TogoVar
WDTC1_chr1_27229632_27313636	27289053	CGGACGGG others(42): Show CGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG06807.hp2 NA18522.hp2 HG03195.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0175 a0001c0001t0001g0190 a0001c0001t0001g0028 a0001c0001t0001g0175 a0001c0001t0001g0190	3	214	0.0140	-49	c.479 others(66): Show c.479+1209_479+1257delCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCTGGACGGGGCGGCTGGC	WDTC1	ENSG00000142784.16	transcript	ENST00000319394.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
WNK1_chr12_747579_916452	814132	CAGCCTGG others(42): Show CAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp2 HG03130.hp1 others(2): Show HG02809.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0010 a0007c0010t0030 a0007c0010t0010 a0007c0010t0030	a0007c0010t0010g0134 a0007c0010t0010g0136 a0007c0010t0010g0137 others(2): Show a0007c0010t0010g0134 a0007c0010t0010g0136 a0007c0010t0010g0137 a0007c0010t0010g0148 a0007c0010t0030g0135	5	284	0.0176	-49	c.932 others(64): Show c.932+323_932+371delTGGCCAACGTGGTGAAACCCCGTCTCTACT AAAAGTACAAAAATTAGCC	WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
WWP2_chr16_69757332_69946739	69912976	ATATATAT others(42): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18939.hp2 HG02451.hp2 NA18939.hp2	a0001 a0001	a0001c0005 a0001c0019 a0001c0005 a0001c0019	a0001c0005t0001 a0001c0019t0001 a0001c0005t0001 a0001c0019t0001	a0001c0005t0001g0161 a0001c0019t0001g0301 a0001c0005t0001g0161 a0001c0019t0001g0301	2	314	0.0064	-49	c.100 others(68): Show c.1004+4128_1004+4176delATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
XPO5_chr6_43517334_43581038	43580505	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	246	0.0041	-49	c.-46 others(60): Show c.-4690_-4642delGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGG	XPO5	ENSG00000124571.18	transcript	ENST00000265351.12	protein_coding		4468		chr6	TogoVar
XRCC6_chr22_41616295_41669041	41631092	ATGACCCC others(42): Show ATGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCAGGGCGGGGGGC	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	324	0.0031	-49	c.195 others(66): Show c.195+2883_195+2931delTGGACGGGGCGGCTGGCAGGGCGGGGGG CTGACCCCCCCACCTCCCTCC	XRCC6	ENSG00000196419.13	transcript	ENST00000360079.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
YAF2_chr12_42152104_42243248	42228246	GGGGGTGT others(42): Show GGGGGTGTCGGCCCCCCGCCCGCGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02004.hp2 HG02148.hp2 others(1): Show HG01993.hp1 HG02004.hp2 HG02148.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 others(1): Show a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305	4	374	0.0107	-49	c.152 others(66): Show c.152+9304_152+9352delACCTCCCTCCCGGACGGGGCGGCTGGCG CGGGCGGGGGGCCGACACCCC	YAF2	ENSG00000015153.15	transcript	ENST00000534854.7	protein_coding	2/3			chr12	TogoVar
YBX2_chr17_7283263_7299639	7295568	CCCGGGTT others(42): Show CCCGGGTTCAAGCGATTCTCCCTCCTCAGCCTCCTGAGTACCTGGAATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	440	0.0023	-49	c.-11 others(60): Show c.-1117_-1069delTAATTCCAGGTACTCAGGAGGCTGAGGAGGGAGA ATCGCTTGAACCCGG	YBX2	ENSG00000006047.13	transcript	ENST00000007699.10	protein_coding		930		chr17	TogoVar
YIPF4_chr2_32272904_32321594	32293833	AGGCGGGG others(42): Show AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0202 a0001c0001t0202	a0001c0001t0202g0067 a0001c0001t0202g0067	1	398	0.0025	-49	c.405 others(66): Show c.405+1506_405+1554delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCC	YIPF4	ENSG00000119820.11	transcript	ENST00000238831.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
YJU2_chr19_4242080_4274088	4247573	GGGGTGGC others(42): Show GGGGTGGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	384	0.0026	-49	c.24+ others(62): Show c.24+405_24+453delGGTGGCGCGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTG	YJU2	ENSG00000105248.16	transcript	ENST00000262962.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
YJU2_chr19_4242080_4274088	4247583	GTGTGTGT others(42): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18979.hp1 NA19012.hp2 HG03688.hp2 NA18979.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161	3	384	0.0078	-49	c.24+ others(62): Show c.24+414_24+462delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGT	YJU2	ENSG00000105248.16	transcript	ENST00000262962.12	protein_coding	1/7			chr19	TogoVar
YME1L1_chr10_27105111_27159384	27106775	TATAATCA others(42): Show TATAATCATATATATATAATCATATATATAATGAATATATATATATAATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01175.hp2 HG01192.hp2 others(14): Show HG00738.hp2 HG01175.hp2 HG01192.hp2 HG01496.hp1 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02155.hp2 HG02523.hp2 HG02735.hp1 HG03239.hp2 HG03669.hp2 HG04228.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0028 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0164 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0010g0218	17	388	0.0438	-49	c.51 others(60): Show c.5153_*5201delGATTATATATATATATTCATTATATATATGATTA TATATATATGATTAT	YME1L1	ENSG00000136758.20	transcript	ENST00000376016.8	protein_coding		3335		chr10	TogoVar
YWHAE_chr17_1339275_1405222	1403241	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(66): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG01167.hp1 HG01169.hp2 HG01358.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02135.hp2 HG02523.hp1 HG02602.hp2 HG02818.hp1 HG02970.hp2 HG03017.hp1 HG03453.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0296 others(66): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0296 a0001c0001t0002g0210 a0001c0001t0002g0226 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0037 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0359 a0001c0001t0003g0364 a0001c0001t0005g0203 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0012g0057 a0001c0001t0012g0066 a0001c0001t0013g0006 a0001c0001t0014g0229 a0001c0001t0018g0060	69	373	0.1850	-49	c.-31 others(60): Show c.-3180_-3132delGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGG	YWHAE	ENSG00000108953.17	transcript	ENST00000264335.13	protein_coding		3020		chr17	TogoVar
ZAN_chr7_100728595_100802797	100741568	ACCCCCAC others(42): Show ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02602.hp1 others(3): Show HG01168.hp2 HG01169.hp2 HG02602.hp1 HG03017.hp1 HG03654.hp1 HG04228.hp2	a0006 a0015 a0022 a0006 a0015 a0022	a0006c0089 a0015c0021 a0015c0088 others(1): Show a0006c0089 a0015c0021 a0015c0088 a0022c0020	a0006c0089t0001 a0015c0021t0001 a0015c0088t0001 others(1): Show a0006c0089t0001 a0015c0021t0001 a0015c0088t0001 a0022c0020t0001	a0006c0089t0001g0055 a0015c0021t0001g0052 a0015c0021t0001g0058 others(3): Show a0006c0089t0001g0055 a0015c0021t0001g0052 a0015c0021t0001g0058 a0015c0088t0001g0056 a0022c0020t0001g0053 a0022c0020t0001g0057	6	308	0.0195	-49	c.766 others(66): Show c.766+2993_766+3041delGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 1443 hits)