Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
EVA1C_chr21_32407706_32520387	32519464	AACACACA others(7): Show AACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG01952.hp2 others(14): Show HG01261.hp2 HG01884.hp1 HG01952.hp2 HG02083.hp1 HG02109.hp2 HG02148.hp2 HG02886.hp2 HG03041.hp2 HG03490.hp2 HG04228.hp2 NA18941.hp1 NA18981.hp1 NA18982.hp2 NA19062.hp2 NA19090.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0002c0022 a0001c0002 a0002c0008 a0002c0022	a0001c0002t0002 a0001c0002t0003 a0002c0008t0002 others(2): Show a0001c0002t0002 a0001c0002t0003 a0002c0008t0002 a0002c0008t0005 a0002c0022t0002	a0001c0002t0002g0258 a0001c0002t0002g0267 a0001c0002t0002g0268 others(14): Show a0001c0002t0002g0258 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0276 a0001c0002t0002g0322 a0001c0002t0003g0115 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0002c0008t0002g0130 a0002c0008t0002g0131 a0002c0008t0002g0132 a0002c0008t0002g0257 a0002c0008t0005g0116 a0002c0022t0002g0103	17	346	0.0491	-14	c.42 others(25): Show c.4275_*4288delACACACACACACAC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding		4078		chr21	TogoVar
EVC2_chr4_5557439_5713559	5625307	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0001 a0002c0054t0001	a0002c0054t0001g0166 a0002c0054t0001g0166	1	292	0.0034	-14	c.204 others(31): Show c.2046+428_2046+441delGTGTGTGTGTGTGT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	13/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650604	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03942.hp2 NA18990.hp2 HG00642.hp1 HG03942.hp2 NA18990.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0011 a0004c0010 a0001c0003 a0001c0011 a0004c0010	a0001c0003t0004 a0001c0011t0001 a0004c0010t0001 a0001c0003t0004 a0001c0011t0001 a0004c0010t0001	a0001c0003t0004g0004 a0001c0011t0001g0202 a0004c0010t0001g0123 a0001c0003t0004g0004 a0001c0011t0001g0202 a0004c0010t0001g0123	3	292	0.0103	-14	c.114 others(33): Show c.1146-9780_1146-9767delATATATATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650626	TATATATA others(7): Show TATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01255.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG01255.hp1 HG02109.hp2 NA19043.hp1	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0017	a0001c0003 a0002c0024 a0013c0038 others(1): Show a0001c0003 a0002c0024 a0013c0038 a0017c0079	a0001c0003t0001 a0002c0024t0007 a0013c0038t0005 others(1): Show a0001c0003t0001 a0002c0024t0007 a0013c0038t0005 a0017c0079t0001	a0001c0003t0001g0204 a0001c0003t0001g0205 a0002c0024t0007g0002 others(2): Show a0001c0003t0001g0204 a0001c0003t0001g0205 a0002c0024t0007g0002 a0013c0038t0005g0094 a0017c0079t0001g0224	5	292	0.0171	-14	c.114 others(33): Show c.1146-9802_1146-9789delCTATATATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650628	TATATATA others(7): Show TATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp1 HG03834.hp1 HG01099.hp2 HG01433.hp1 HG03834.hp1	a0003 a0003	a0003c0006 a0003c0013 a0003c0006 a0003c0013	a0003c0006t0001 a0003c0013t0002 a0003c0006t0001 a0003c0013t0002	a0003c0006t0001g0234 a0003c0006t0001g0236 a0003c0013t0002g0235 a0003c0006t0001g0234 a0003c0006t0001g0236 a0003c0013t0002g0235	3	292	0.0103	-14	c.114 others(33): Show c.1146-9804_1146-9791delCTCTATATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650630	TATATATA others(7): Show TATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG01884.hp1 HG02630.hp1	a0019 a0029 a0019 a0029	a0019c0084 a0029c0034 a0019c0084 a0029c0034	a0019c0084t0001 a0029c0034t0005 a0019c0084t0001 a0029c0034t0005	a0019c0084t0001g0285 a0029c0034t0005g0034 a0019c0084t0001g0285 a0029c0034t0005g0034	2	292	0.0069	-14	c.114 others(33): Show c.1146-9806_1146-9793delCTCTCTATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5737691	ATAGTTTA others(7): Show ATAGTTTAAGCCCAC	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0008 a0005c0024t0008	a0005c0024t0008g0219 a0005c0024t0008g0219	1	369	0.0027	-14	c.703 others(31): Show c.703-4022_703-4009delGTTTAAGCCCACTA	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
EVC_chr4_5706201_5819305	5782536	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01891.hp2 others(7): Show HG01109.hp2 HG01255.hp2 HG01891.hp2 HG02145.hp1 HG02451.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp2 NA18522.hp1	a0001 a0004 a0011 others(2): Show a0001 a0004 a0011 a0012 a0030	a0001c0009 a0004c0014 a0011c0036 others(2): Show a0001c0009 a0004c0014 a0011c0036 a0012c0103 a0030c0119	a0001c0009t0006 a0004c0014t0006 a0011c0036t0006 others(2): Show a0001c0009t0006 a0004c0014t0006 a0011c0036t0006 a0012c0103t0006 a0030c0119t0006	a0001c0009t0006g0075 a0001c0009t0006g0200 a0004c0014t0006g0063 others(7): Show a0001c0009t0006g0075 a0001c0009t0006g0200 a0004c0014t0006g0063 a0004c0014t0006g0270 a0004c0014t0006g0326 a0004c0014t0006g0368 a0011c0036t0006g0066 a0011c0036t0006g0067 a0012c0103t0006g0205 a0030c0119t0006g0212	10	369	0.0271	-14	c.156 others(31): Show c.1564-998_1564-985delAAAAAAAAAAAAAA	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
EVC_chr4_5706201_5819305	5788915	GTCATTCG others(7): Show GTCATTCGTGTTAGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG03579.hp2 others(1): Show HG02258.hp1 HG02647.hp1 HG03579.hp2 HG06807.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0034 a0004c0006t0005 a0004c0006t0034	a0004c0006t0005g0275 a0004c0006t0005g0364 a0004c0006t0005g0366 others(1): Show a0004c0006t0005g0275 a0004c0006t0005g0364 a0004c0006t0005g0366 a0004c0006t0034g0323	4	369	0.0108	-14	c.177 others(33): Show c.1777-4692_1777-4679delTCATTCGTGTTAGT	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	12/20			chr4	TogoVar
EVI2A_chr17_31311410_31326622	31313722	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	378	0.0027	-14	c.45 others(25): Show c.4567_*4580delCACACACACACACA	EVI2A	ENSG00000126860.12	transcript	ENST00000462804.3	protein_coding		2687		chr17	TogoVar
EVI2B_chr17_31298770_31319054	31313722	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	372	0.0027	-14	c.-22 others(29): Show c.-22+243_-22+256delCACACACACACACA	EVI2B	ENSG00000185862.7	transcript	ENST00000330927.5	protein_coding	1/1			chr17	TogoVar
EVI5L_chr19_7825218_7869976	7831226	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00597.hp2 others(80): Show HG00099.hp1 HG00323.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01081.hp2 HG01109.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01891.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03139.hp2 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp2 NA18981.hp2 NA18989.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(64): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0008g0162 a0001c0001t0011g0146 a0001c0003t0001g0020 a0001c0003t0001g0032 a0001c0003t0001g0062	83	396	0.2096	-14	c.-48 others(29): Show c.-48+879_-48+892delCACACACACACACA	EVI5L	ENSG00000142459.9	transcript	ENST00000538904.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
EVI5_chr1_92503696_92790108	92507102	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG02717.hp1 others(1): Show HG01081.hp2 HG01884.hp2 HG02717.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0050 a0001c0001t0001 a0001c0001t0008 a0001c0001t0050	a0001c0001t0001g0093 a0001c0001t0008g0058 a0001c0001t0008g0138 others(1): Show a0001c0001t0001g0093 a0001c0001t0008g0058 a0001c0001t0008g0138 a0001c0001t0050g0121	4	168	0.0238	-14	c.65 others(25): Show c.6540_*6553delACACACACACACAC	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding		1593		chr1	TogoVar
EVI5_chr1_92503696_92790108	92513510	AATATATA others(7): Show AATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0035 a0004c0006t0035	a0004c0006t0035g0144 a0004c0006t0035g0144	1	168	0.0060	-14	c.13 others(23): Show c.132_*145delATATATATATATAT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	20/20	132		chr1	TogoVar
EVI5_chr1_92503696_92790108	92550777	AAAAAATA others(7): Show AAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0042 a0001c0001t0043g0042	1	168	0.0060	-14	c.216 others(35): Show c.2166+12851_2166+12864delATATATATATTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	19/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92744594	TCTCTCTC others(7): Show TCTCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp2 HG01884.hp2 others(2): Show HG01081.hp2 HG01346.hp2 HG01884.hp2 HG02145.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0023 a0001c0001t0050	a0001c0001t0002g0098 a0001c0001t0008g0058 a0001c0001t0023g0053 others(2): Show a0001c0001t0002g0098 a0001c0001t0008g0058 a0001c0001t0023g0053 a0001c0001t0023g0054 a0001c0001t0050g0121	5	168	0.0298	-14	c.-81 others(31): Show c.-81-7981_-81-7968delTGTGTGTGAGAGAG	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	1/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92744596	TCTCTCAC others(7): Show TCTCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02257.hp2 others(5): Show HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02486.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0020 others(3): Show a0001c0001t0005 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0040 a0001c0001t0047	a0001c0001t0005g0049 a0001c0001t0005g0052 a0001c0001t0018g0016 others(5): Show a0001c0001t0005g0049 a0001c0001t0005g0052 a0001c0001t0018g0016 a0001c0001t0020g0002 a0001c0001t0020g0003 a0001c0001t0027g0004 a0001c0001t0040g0015 a0001c0001t0047g0137	8	168	0.0476	-14	c.-81 others(31): Show c.-81-7983_-81-7970delTGTGTGTGTGAGAG	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	1/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92744598	TCTCACAC others(7): Show TCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03225.hp1 HG06807.hp2 others(1): Show HG02280.hp2 HG03225.hp1 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0057 a0001c0001t0005 a0001c0001t0057	a0001c0001t0005g0051 a0001c0001t0005g0055 a0001c0001t0005g0149 others(1): Show a0001c0001t0005g0051 a0001c0001t0005g0055 a0001c0001t0005g0149 a0001c0001t0057g0048	4	168	0.0238	-14	c.-81 others(31): Show c.-81-7985_-81-7972delTGTGTGTGTGTGAG	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	1/19			chr1	TogoVar
EVL_chr14_100060422_100149236	100061403	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA19043.hp1 HG02572.hp2 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0043 a0002c0003t0001g0045 a0002c0003t0001g0043 a0002c0003t0001g0045	2	354	0.0057	-14	c.-40 others(25): Show c.-4097_-4084delAAAAAAAAAAAAAA	EVL	ENSG00000196405.13	transcript	ENST00000392920.8	protein_coding		4018		chr14	TogoVar
EVL_chr14_100060422_100149236	100097203	AAACCAGA others(7): Show AAACCAGAGCCAGGG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp2 NA19009.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0001g0026 a0001c0001t0001g0104	2	354	0.0057	-14	c.181 others(29): Show c.181-273_181-260delAGAGCCAGGGAACC	EVL	ENSG00000196405.13	transcript	ENST00000392920.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
EVL_chr14_100060422_100149236	100115263	CCTGGAAG others(7): Show CCTGGAAGCTGGAGA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	354	0.0028	-14	c.359 others(31): Show c.359-8271_359-8258delAAGCTGGAGACTGG	EVL	ENSG00000196405.13	transcript	ENST00000392920.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
EVPLL_chr17_18372778_18394647	18373800	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0036 a0001c0003t0002g0036	1	408	0.0025	-14	c.-42 others(25): Show c.-4219_-4206delAAAAAAAAAAAAAA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding		3977		chr17	TogoVar
EVX1_chr7_27237802_27252830	27252583	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG03453.hp1 others(9): Show HG00438.hp1 HG00621.hp1 HG03453.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18994.hp2 NA19000.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0006	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0011g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0011g0001 a0001c0002t0006g0004	12	398	0.0302	-14	c.61 others(25): Show c.6159_*6172delGTGTGTGTGTGTGT	EVX1	ENSG00000106038.13	transcript	ENST00000496902.7	protein_coding		4754		chr7	TogoVar
EWSR1_chr22_29263268_29305521	29269685	GGGATACC others(7): Show GGGATACCAAAGAGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01169.hp2 others(7): Show HG00735.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01515.hp1 HG01517.hp1 HG01993.hp2 HG03225.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0161 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0003c0003t0001g0018	10	390	0.0256	-14	c.13+ others(29): Show c.13+1352_13+1365delGATACCAAAGAGTG	EWSR1	ENSG00000182944.18	transcript	ENST00000397938.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
EWSR1_chr22_29263268_29305521	29295705	ATACAAGG others(7): Show ATACAAGGTAGCTCC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG02922.hp1 others(6): Show HG02723.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03453.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0140 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144	9	390	0.0231	-14	c.116 others(31): Show c.1165-532_1165-519delACAAGGTAGCTCCT	EWSR1	ENSG00000182944.18	transcript	ENST00000397938.7	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
EXD1_chr15_41177728_41235757	41179576	AGAAAGGA others(7): Show AGAAAGGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0188 a0001c0001t0009g0188	1	318	0.0031	-14	c.43 others(25): Show c.4341_*4354delCTTTCTTTCCTTTC	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3151		chr15	TogoVar
EXD2_chr14_69186498_69249018	69201672	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02055.hp2 HG02056.hp1 others(9): Show HG01361.hp2 HG02055.hp2 HG02056.hp1 HG02155.hp1 HG02486.hp2 HG03688.hp1 HG04199.hp1 NA18945.hp2 NA18949.hp2 NA19002.hp2 NA19063.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 others(9): Show a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0031	12	234	0.0513	-14	c.-13 others(33): Show c.-131-2230_-131-2217delTTTTTTTTTTTTTT	EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD2_chr14_69186498_69249018	69220253	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp1 HG03540.hp1 HG02572.hp1 HG02886.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016	a0001c0001t0003g0125 a0001c0001t0006g0217 a0001c0001t0016g0102 a0001c0001t0003g0125 a0001c0001t0006g0217 a0001c0001t0016g0102	3	234	0.0128	-14	c.334 others(31): Show c.334-8541_334-8528delTTTTTTTTTTTTTT	EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD3_chr9_137301896_137428162	137341819	ACCAGGAG others(7): Show ACCAGGAGCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(39): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02683.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18951.hp1 NA18999.hp1 NA19007.hp2 NA19043.hp1 NA19066.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0006 a0007 a0011 a0013 a0015 a0020 a0023 a0026 a0028 a0030	a0001c0001 a0001c0031 a0002c0002 others(11): Show a0001c0001 a0001c0031 a0002c0002 a0003c0003 a0006c0004 a0007c0010 a0011c0011 a0013c0027 a0015c0028 a0020c0014 a0023c0016 a0026c0025 a0028c0034 a0030c0032	a0001c0001t0001 a0001c0001t0002 a0001c0031t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0031t0001 a0002c0002t0001 a0003c0003t0001 a0006c0004t0001 a0007c0010t0001 a0011c0011t0001 a0013c0027t0001 a0015c0028t0001 a0020c0014t0001 a0023c0016t0001 a0026c0025t0001 a0028c0034t0001 a0030c0032t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(39): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0002g0001 a0001c0031t0001g0075 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0056 a0002c0002t0001g0062 a0002c0002t0001g0077 a0002c0002t0001g0081 a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0041 a0003c0003t0001g0068 a0006c0004t0001g0027 a0007c0010t0001g0021 a0007c0010t0001g0079 a0011c0011t0001g0020 a0013c0027t0001g0064 a0015c0028t0001g0080 a0020c0014t0001g0074 a0023c0016t0001g0019 a0026c0025t0001g0071 a0028c0034t0001g0067 a0030c0032t0001g0054	42	82	0.5122	-14	c.199 others(33): Show c.1998+6238_1998+6251delGAGACGGCTCCTGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137403411	CCACCCCC others(7): Show CCACCCCCAGCCCAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00741.hp1 others(32): Show HG00099.hp2 HG00280.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01256.hp2 HG01884.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02683.hp1 HG02683.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA19007.hp2 NA19043.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0017 a0019 a0020 a0023 a0025 a0027	a0001c0001 a0002c0002 a0003c0003 others(17): Show a0001c0001 a0002c0002 a0003c0003 a0004c0009 a0004c0021 a0005c0005 a0006c0004 a0007c0010 a0008c0013 a0009c0008 a0010c0006 a0011c0011 a0012c0012 a0013c0027 a0017c0030 a0019c0019 a0020c0014 a0023c0016 a0025c0024 a0027c0035	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(17): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0009t0001 a0004c0021t0001 a0005c0005t0001 a0006c0004t0001 a0007c0010t0001 a0008c0013t0001 a0009c0008t0001 a0010c0006t0001 a0011c0011t0001 a0012c0012t0001 a0013c0027t0001 a0017c0030t0001 a0019c0019t0001 a0020c0014t0001 a0023c0016t0001 a0025c0024t0001 a0027c0035t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(32): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0070 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0045 a0002c0002t0001g0056 a0002c0002t0001g0062 a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0068 a0004c0009t0001g0014 a0004c0009t0001g0065 a0004c0021t0001g0069 a0005c0005t0001g0018 a0005c0005t0001g0066 a0006c0004t0001g0027 a0007c0010t0001g0021 a0008c0013t0001g0039 a0009c0008t0001g0012 a0009c0008t0001g0013 a0010c0006t0001g0008 a0011c0011t0001g0020 a0012c0012t0001g0046 a0013c0027t0001g0064 a0017c0030t0001g0015 a0019c0019t0001g0022 a0020c0014t0001g0074 a0023c0016t0001g0019 a0025c0024t0001g0049 a0027c0035t0001g0040	35	82	0.4268	-14	c.-47 others(31): Show c.-47-8021_-47-8008delCTGGGCTGGGGGTG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC3_chr5_438176_472290	441497	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19077.hp2 NA19058.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	2	418	0.0048	-14	c.-18 others(25): Show c.-1849_-1836delTTTTTTTTTTTTTT	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		1678		chr5	TogoVar
EXOC4_chr7_133248078_134070761	133597564	AAAAAAAA others(7): Show AAAAAAAAAAAACCC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA21309.hp2 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0015 a0001c0002t0002 a0001c0008t0015	a0001c0002t0002g0079 a0001c0008t0015g0078 a0001c0002t0002g0079 a0001c0008t0015g0078	2	102	0.0196	-14	c.141 others(35): Show c.1418-32470_1418-32457delACCCAAAAAAAAAA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133650937	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0049 a0001c0003t0014g0049	1	102	0.0098	-14	c.151 others(35): Show c.1514+20808_1514+20821delTTTTTTTTTTTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133676943	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	102	0.0098	-14	c.151 others(35): Show c.1514+46816_1514+46829delATGTGTGTGTGTGT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133686991	TTTTGTGT others(7): Show TTTTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp2 others(24): Show HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00639.hp2 HG01071.hp1 HG01099.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01943.hp1 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02559.hp1 HG03704.hp2 HG04184.hp2 NA18945.hp1 NA18954.hp1 NA18983.hp2 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19065.hp1 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0066 others(24): Show a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0053 a0001c0002t0001g0089 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0003g0013 a0001c0002t0003g0017 a0001c0002t0003g0090 a0001c0002t0016g0054 a0001c0003t0001g0006 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0002g0005 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0015 a0001c0003t0002g0018 a0001c0003t0002g0060	27	102	0.2647	-14	c.151 others(35): Show c.1514+56852_1514+56865delTTGTGTGTGTGTGT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133777279	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(41): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00738.hp1 HG01071.hp2 HG01099.hp2 HG01192.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18954.hp1 NA18954.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19065.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0003t0001 a0001c0003t0004 a0001c0003t0018 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0005t0007 a0001c0005t0013 a0001c0006t0010 a0001c0007t0008	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0031 others(41): Show a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0002g0003 a0001c0001t0002g0050 a0001c0001t0002g0100 a0001c0001t0003g0032 a0001c0001t0003g0057 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0095 a0001c0001t0005g0034 a0001c0001t0005g0040 a0001c0001t0006g0059 a0001c0001t0009g0001 a0001c0001t0009g0046 a0001c0001t0017g0094 a0001c0001t0019g0085 a0001c0003t0001g0048 a0001c0003t0004g0097 a0001c0003t0018g0058 a0001c0004t0001g0009 a0001c0004t0001g0016 a0001c0004t0001g0041 a0001c0004t0001g0072 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0002g0029 a0001c0004t0002g0030 a0001c0004t0004g0037 a0001c0004t0004g0044 a0001c0005t0007g0069 a0001c0005t0013g0045 a0001c0006t0010g0035 a0001c0006t0010g0084 a0001c0007t0008g0081	44	102	0.4314	-14	c.151 others(35): Show c.1515-40016_1515-40003delGAGAGAGAGAGAGA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133787376	TGTGTGTG others(7): Show TGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0045 a0001c0005t0013g0045	1	102	0.0098	-14	c.151 others(35): Show c.1515-29947_1515-29934delTGTGTGTGTGTGAG	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133787955	TTATATAT others(7): Show TTATATATTTATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02027.hp1 HG02572.hp2 others(2): Show HG01884.hp2 HG02027.hp1 HG02572.hp2 HG02622.hp2 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 a0001c0003 a0001c0005 a0001c0006	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0005t0013 a0001c0006t0010	a0001c0003t0001g0020 a0001c0003t0002g0036 a0001c0003t0004g0097 others(2): Show a0001c0003t0001g0020 a0001c0003t0002g0036 a0001c0003t0004g0097 a0001c0005t0013g0045 a0001c0006t0010g0035	5	102	0.0490	-14	c.151 others(35): Show c.1515-29362_1515-29349delTTATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133787963	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0096 a0001c0002t0006g0096	1	102	0.0098	-14	c.151 others(35): Show c.1515-29326_1515-29313delATATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133853345	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19030.hp1 NA19030.hp2 HG03139.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0004t0004 a0001c0001t0001 a0001c0001t0005 a0001c0004t0004	a0001c0001t0001g0052 a0001c0001t0005g0051 a0001c0004t0004g0082 a0001c0001t0001g0052 a0001c0001t0005g0051 a0001c0004t0004g0082	3	102	0.0294	-14	c.173 others(35): Show c.1734+35841_1734+35854delCACACACACACACA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857148	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18954.hp1 HG03098.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0042 a0001c0002t0001g0086 a0001c0001t0001g0042 a0001c0002t0001g0086	2	102	0.0196	-14	c.173 others(35): Show c.1735-38411_1735-38398delATATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857325	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	102	0.0098	-14	c.173 others(35): Show c.1735-38246_1735-38233delATATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133884581	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	102	0.0098	-14	c.173 others(35): Show c.1735-10991_1735-10978delTGTGTGTGTGTGTG	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133971351	TATATATA others(7): Show TATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0015	a0001c0008t0015g0078 a0001c0008t0015g0078	1	102	0.0098	-14	c.220 others(35): Show c.2207-26139_2207-26126delTATATATATAGAGA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72310850	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG02145.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0002 a0002c0004t0008g0004 a0002c0004t0008g0002 a0002c0004t0008g0004	2	104	0.0192	-14	c.219 others(35): Show c.2196+24083_2196+24096delGTGTGTGTGTGTGT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72412902	CTTCCTTT others(7): Show CTTCCTTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	104	0.0096	-14	c.198 others(35): Show c.1981-33046_1981-33033delAGGAAGGAAAGGAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72413681	CAAAAAAG others(7): Show CAAAAAAGAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01243.hp1 others(22): Show HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 NA18906.hp1 NA19010.hp1 NA20129.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0002t0014 a0003c0007t0006	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0002g0064 others(22): Show a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0003g0011 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0103 a0001c0002t0004g0104 a0001c0002t0005g0025 a0001c0002t0005g0068 a0001c0002t0005g0072 a0001c0002t0005g0075 a0001c0002t0006g0010 a0001c0002t0009g0023 a0001c0002t0009g0076 a0001c0002t0011g0067 a0001c0002t0011g0073 a0001c0002t0014g0015 a0001c0002t0014g0016 a0003c0007t0006g0070	25	104	0.2404	-14	c.198 others(35): Show c.1981-33825_1981-33812delTTTTTTTCTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72601112	ATGTGTGT others(7): Show ATGTGTGTGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01981.hp1 HG00642.hp1 HG01109.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0022 a0001c0003t0023 a0001c0003t0001 a0001c0003t0022 a0001c0003t0023	a0001c0003t0001g0091 a0001c0003t0022g0083 a0001c0003t0023g0092 a0001c0003t0001g0091 a0001c0003t0022g0083 a0001c0003t0023g0092	3	104	0.0289	-14	c.670 others(33): Show c.670-25458_670-25445delCATACACACACACA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72601124	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0101 a0001c0002t0005g0102	2	104	0.0192	-14	c.670 others(33): Show c.670-25470_670-25457delCACACACACACACA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631461	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0073 a0001c0002t0011g0073	1	104	0.0096	-14	c.670 others(33): Show c.670-55807_670-55794delCTCTCTCTCTCTCT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)