Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
CSNK1A1_chr5_149487982_149556439	149542628	ATATATAT others(61): Show ATATATATATATGTATATATATATATATATATATATATATATATGTATAT ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03225.hp2 HG03540.hp1 HG02970.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0043 a0001c0001t0003 a0001c0001t0043	a0001c0001t0003g0135 a0001c0001t0003g0140 a0001c0001t0043g0152 a0001c0001t0003g0135 a0001c0001t0003g0140 a0001c0001t0043g0152	3	390	0.0077	-68	c.230 others(85): Show c.230+7379_230+7446delAAAATATATATATATATATATATACATA TATATATATATATATATATATATATATACATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G2_chr19_1936172_1986338	1967726	CTCCTCCT others(61): Show CTCCTCCTTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTC TGCAGGTGGGGCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	382	0.0026	-68	c.-26 others(87): Show c.-265-1775_-265-1708delTTCCTCCCTCCTCCCCAGGCTGCCCC CGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1967908	GCTCCTCC others(61): Show GCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGTT CTGCAGGTGGGGCTCCTCC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	382	0.0026	-68	c.-26 others(87): Show c.-265-1591_-265-1524delTCCTCCCTTCTCCCCAGGCTGCCCCC GACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2E1_chr10_133522363_133544123	133536693	ATGGGAGG others(61): Show ATGGGAGGGTGGATAAATGGGTGGATGGGTGGATGGTTGGATGGATGGGT GGGTGGGTGGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	414	0.0024	-68	c.968 others(83): Show c.968-366_968-299delGAGGGTGGATAAATGGGTGGATGGGTGGAT GGTTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGG	CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DACH2_chrX_86143451_86837602	86205462	CTCCCTCC others(61): Show CTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	166	0.0060	-68	c.488 others(87): Show c.488+56358_488+56425delCTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAKD_chr17_45018344_45056632	45051748	TGGGCGGG others(61): Show TGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCG GGGCCGGGAGAGGTTGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02080.hp2 HG02738.hp1 others(6): Show HG00423.hp1 HG02080.hp2 HG02738.hp1 HG03834.hp2 HG03927.hp1 NA18949.hp1 NA18966.hp1 NA18970.hp2 NA19089.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0002 a0001c0001t0018 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0005c0009t0016	a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0219 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0219 a0001c0001t0002g0225 a0001c0001t0018g0199 a0001c0001t0019g0351 a0001c0001t0024g0224 a0005c0009t0016g0227	9	408	0.0221	-68	c.-57 others(77): Show c.-570_-503delGCCCAACCTCTCCCGGCCCCGCCCGCCCGCCCGCCC AACCTCTCCCGGCCCCGCCCGCCCGCCCGCCC	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		117		chr17	TogoVar
DDX51_chr12_132131594_132149319	132135145	CCCGAGTG others(61): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCG GTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0038 a0004c0004t0038	a0004c0004t0038g0079 a0004c0004t0038g0079	1	334	0.0030	-68	c.40 others(79): Show c.4059_*4126delAGGTGGGAGGAGCGGGCACCGGGGCATACTCGGG AGGTGGGAGGAGCGGGCACCGTGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1448		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135534	CCCGAGTG others(61): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCACTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA19007.hp1 NA19065.hp1 others(1): Show HG00438.hp2 NA19007.hp1 NA19065.hp1 NA19083.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0014 a0002c0002 a0006c0014	a0002c0002t0003 a0002c0002t0020 a0006c0014t0003 a0002c0002t0003 a0002c0002t0020 a0006c0014t0003	a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0020g0029 others(1): Show a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0020g0029 a0006c0014t0003g0039	4	334	0.0120	-68	c.36 others(79): Show c.3670_*3737delAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGG GAGGTGGGAGGAGCGGGCACCGGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1059		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136189	TCCTCCCA others(61): Show TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCACGGTGCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0051 a0002c0002t0035g0051	1	334	0.0030	-68	c.30 others(79): Show c.3015_*3082delGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGG AGCGGGCACCGGGGCACACTCGGGAGGTGGGAGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		404		chr12	TogoVar
DEFB106B_chr8_7477504_7491400	7483562	AAAGGTGC others(61): Show AAAGGTGCCTAATTCAAATCTACATAAAACTTACAGCCAGGTGGATTAGT GCCAGCATATGCACTAATG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	180	0.0056	-68	c.50- others(81): Show c.50-878_50-811delCATTAGTGCATATGCTGGCACTAATCCACCTG GCTGTAAGTTTTATGTAGATTTGAATTAGGCACCTT	DEFB106B	ENSG00000187082.2	transcript	ENST00000335479.2	protein_coding	1/1			chr8	TogoVar
DENND4C_chr9_19225693_19379281	19238456	CCCCTCCC others(61): Show CCCCTCCCCTCCCTCTCCCCTCCCCTCCCCCTTCTCCTCCCCTCCCCTCC CCTACTCTCCCTTCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00642.hp1 others(50): Show HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01081.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG02027.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03492.hp2 HG03540.hp1 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18966.hp1 NA18968.hp2 NA18972.hp1 NA18994.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0009 a0018 a0019	a0001c0001 a0001c0002 a0001c0009 others(9): Show a0001c0001 a0001c0002 a0001c0009 a0001c0025 a0003c0004 a0005c0007 a0006c0006 a0007c0011 a0007c0014 a0009c0012 a0018c0022 a0019c0017	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0025 a0001c0002t0003 a0001c0009t0002 a0001c0025t0026 a0003c0004t0002 a0005c0007t0009 a0006c0006t0005 a0007c0011t0015 a0007c0011t0034 a0007c0014t0015 a0009c0012t0002 a0018c0022t0004 a0019c0017t0015	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0035 others(50): Show a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0173 a0001c0001t0004g0066 a0001c0001t0004g0072 a0001c0001t0007g0040 a0001c0001t0007g0048 a0001c0001t0007g0068 a0001c0001t0009g0058 a0001c0001t0009g0062 a0001c0001t0009g0075 a0001c0001t0018g0060 a0001c0001t0018g0069 a0001c0001t0025g0076 a0001c0002t0003g0044 a0001c0009t0002g0043 a0001c0009t0002g0067 a0001c0025t0026g0030 a0003c0004t0002g0031 a0003c0004t0002g0039 a0003c0004t0002g0042 a0003c0004t0002g0047 a0003c0004t0002g0049 a0003c0004t0002g0050 a0003c0004t0002g0051 a0003c0004t0002g0052 a0003c0004t0002g0054 a0003c0004t0002g0057 a0003c0004t0002g0065 a0003c0004t0002g0071 a0003c0004t0002g0174 a0005c0007t0009g0034 a0005c0007t0009g0036 a0005c0007t0009g0064 a0006c0006t0005g0073 a0006c0006t0005g0074 a0006c0006t0005g0077 a0007c0011t0015g0006 a0007c0011t0034g0007 a0007c0014t0015g0004 a0009c0012t0002g0038 a0009c0012t0002g0056 a0018c0022t0004g0033 a0019c0017t0015g0005	53	292	0.1815	-68	c.-18 others(85): Show c.-18+7636_-18+7703delTCTCCCCTCCCCTCCCCCTTCTCCTCCC CTCCCCTCCCCTACTCTCCCTTCCCCTGCCCTCCCCTCCC	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
DGKB_chr7_14140049_14907751	14211286	ACTATGTG others(61): Show ACTATGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATTTTACTCTCATGTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG03139.hp1 others(1): Show HG00639.hp2 HG02109.hp1 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0003 a0001c0002t0042 others(1): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0042 a0001c0003t0001	a0001c0001t0003g0051 a0001c0002t0003g0010 a0001c0002t0042g0148 others(1): Show a0001c0001t0003g0051 a0001c0002t0003g0010 a0001c0002t0042g0148 a0001c0003t0001g0054	4	148	0.0270	-68	c.212 others(89): Show c.2123-33203_2123-33136delAAACATGAGAGTAAAATCACAAAA CATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACATAG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233463447	CTCCTCAC others(61): Show CTCCTCACTCCACGCATGTCCTCACTGCACGCATGTCCTCACTGCACGCA TGTCCTCACTGCACGCATG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02080.hp1 HG02809.hp2 HG00673.hp2 HG02080.hp1 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0044 a0001c0004t0045 a0001c0004t0046 a0001c0004t0044 a0001c0004t0045 a0001c0004t0046	a0001c0004t0044g0166 a0001c0004t0045g0197 a0001c0004t0046g0243 a0001c0004t0044g0166 a0001c0004t0045g0197 a0001c0004t0046g0243	3	336	0.0089	-68	c.318 others(85): Show c.3187-700_3187-633delGTCCTCACTGCACGCATGTCCTCACTGC ACGCATGTCCTCACTGCACGCATGTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKG_chr3_186142201_186367234	186302491	TATATATA others(61): Show TATATATATATATATACATATGTGTATATATATATATATATACATATGTA TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0202 a0001c0002t0003g0202	1	234	0.0043	-68	c.145 others(85): Show c.145-4330_145-4263delGTATATATATATATATATATACATATGT ATATATATATATATATACACATATGTATATATATATATAT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DHRS12_chr13_51762993_51809163	51775627	TCTCCTAC others(61): Show TCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGT ATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	420	0.0024	-68	c.363 others(85): Show c.363+1365_363+1432delGAGAATACTGTAGGAGAATACATGTAGG AGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2228163	GGGGGAAG others(61): Show GGGGGAAGGGAGGGAGGGAGGGGGGAAGGGGGGAAGGGAGGGAGGGAGGG AGGGAGAGAGGGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	50	0.0200	-68	c.805 others(85): Show c.805-7002_805-6935delTCTCCCTCCCTCTCTCCCTCCCTCCCTC CCTCCCTTCCCCCCTTCCCCCCTCCCTCCCTCCCTTCCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIP2C_chr10_269201_694668	429337	TCACCCCC others(61): Show TCACCCCCGGACCCTGGCTGCCTCCCCCCCGGACCCTGGCTGCCTCCCCC CCGGACCCTGGCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	88	0.0114	-68	c.395 others(85): Show c.395-6372_395-6305delGGAGGCAGCCAGGGTCCGGGGGGGAGGC AGCCAGGGTCCGGGGGGGAGGCAGCCAGGGTCCGGGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608157	CCCCCACA others(61): Show CCCCCACAGCCCCCCCCACACACACCCCACACACACAGCCCCAACACACA CACAGCCCCCCCACACACA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0074 a0001c0020t0008g0074	1	88	0.0114	-68	c.85+ others(85): Show c.85+81269_85+81336delTGTGTGTGGGGGGGCTGTGTGTGTGTTG GGGCTGTGTGTGTGGGGTGTGTGTGGGGGGGGCTGTGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978602	CTATATAT others(61): Show CTATATATATATATCTATATCTATATATATATATATATCTATATATATAT ATATATATCTATATATAGA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp1 HG03130.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0015 a0001c0004t0006 a0001c0001t0003 a0001c0001t0015 a0001c0004t0006	a0001c0001t0003g0077 a0001c0001t0015g0200 a0001c0004t0006g0224 a0001c0001t0003g0077 a0001c0001t0015g0200 a0001c0004t0006g0224	3	408	0.0074	-68	c.657 others(85): Show c.657+5625_657+5692delATCTATATCTATATATATATATATATCT ATATATATATATATATATCTATATATAGATATATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLG2_chr11_83450173_85632344	84502251	CTTCCTTC others(61): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	14	0.0714	-68	c.519 others(87): Show c.519+32251_519+32318delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	785566	CCCTCCCC others(61): Show CCCTCCCCTCAGGCCCCTCTGAGACCGGCCTCCCTCCTCCCCTCAGACCC CTCTGAGACCGGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	-68	c.18+ others(85): Show c.18+47787_18+47854delACCCCTCTGAGACCGGCCTCCCTCCTCC CCTCAGGCCCCTCTGAGACCGGCCTCCCTCCTCCCCTCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	785629	CTCCCTCC others(61): Show CTCCCTCCTCCCCTCAGGCCCCTCTGAGACCGGCCTCCCTCCTCCCCTCA GGCCCCTCTGAGACCGGCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01496.hp1 others(6): Show HG00639.hp2 HG01361.hp2 HG01496.hp1 HG02258.hp2 HG02698.hp2 HG02818.hp2 HG02976.hp2 HG03710.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0010 others(3): Show a0001c0002 a0001c0003 a0001c0010 a0002c0004 a0002c0006 a0004c0008	a0001c0002t0001 a0001c0002t0010 a0001c0002t0023 others(6): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0023 a0001c0003t0006 a0001c0010t0025 a0002c0004t0003 a0002c0004t0018 a0002c0006t0021 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0002t0023g0005 others(6): Show a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0003t0006g0033 a0001c0010t0025g0012 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0006t0021g0014 a0004c0008t0016g0029	9	40	0.2250	-68	c.18+ others(85): Show c.18+47872_18+47939delTTCCCTCCTCCCCTCAGGCCCCTCTGAG ACCGGCCTCCCTCCTCCCCTCAGGCCCCTCTGAGACCGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	785750	CCCTCTGA others(61): Show CCCTCTGAGACCGGCCTCCCTCCTCCCCTCAGGCCCCTCTGAGACCGGCC TCCCTCCTCCCCTCAGGCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	-68	c.18+ others(85): Show c.18+47986_18+48053delCTCAGGCTCCTCTGAGACCGGCCTCCCT CCTCCCCTCAGGCCCCTCTGAGACCGGCCTCCCTCCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	895756	CGGTGTGG others(61): Show CGGTGTGGGGCAGTGGTGAGAGGTGTCAATCCCCAGGGTTTGTTGGATGG GGATGATAGTGGCTAGGTA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp2 HG02074.hp1 others(13): Show HG01071.hp2 HG01891.hp2 HG02074.hp1 HG02074.hp2 HG02258.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03516.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0001 others(5): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 others(13): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0022 a0001c0002t0027 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0002c0001t0011 a0002c0001t0020 a0002c0004t0018 a0002c0006t0021 a0002c0007t0008 a0003c0005t0002 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0006g0011 a0001c0002t0009g0039 others(13): Show a0001c0002t0001g0015 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0022g0034 a0001c0002t0027g0023 a0001c0003t0001g0026 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0003t0014g0020 a0002c0001t0011g0001 a0002c0001t0020g0024 a0002c0004t0018g0010 a0002c0006t0021g0014 a0002c0007t0008g0040 a0003c0005t0002g0031 a0004c0008t0016g0029	16	40	0.4000	-68	c.19- others(85): Show c.19-11717_19-11650delCCCAGGGTTTGTTGGATGGGGATGATAG TGGCTAGGTAGGTGTGGGGCAGTGGTGAGAGGTGTCAATC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1011617	CAGTGGGC others(61): Show CAGTGGGCCCTGGAATGAGGGGTCTCAGTCTGCACAGTGAGCCCTGGAAT GAGGAGTCTCAGTCTATAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	-68	c.73+ others(87): Show c.73+103656_73+103723delGGCCCTGGAATGAGGGGTCTCAGTCT GCACAGTGAGCCCTGGAATGAGGAGTCTCAGTCTATAGAGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1090163	CAGGGGTG others(61): Show CAGGGGTGGAAACTCATACCCCGAGGACCTGCTGCCTGTCTGCGCTCTGG AGCCCTCCTGGCCAGACAG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02976.hp2 NA18906.hp1 HG01496.hp2 HG02976.hp2 NA18906.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0005 a0004c0008 a0001c0002 a0003c0005 a0004c0008	a0001c0002t0001 a0003c0005t0004 a0004c0008t0016 a0001c0002t0001 a0003c0005t0004 a0004c0008t0016	a0001c0002t0001g0015 a0003c0005t0004g0037 a0004c0008t0016g0029 a0001c0002t0001g0015 a0003c0005t0004g0037 a0004c0008t0016g0029	3	40	0.0750	-68	c.74- others(87): Show c.74-168687_74-168620delAGGGGTGGAAACTCATACCCCGAGGA CCTGCTGCCTGTCTGCGCTCTGGAGCCCTCCTGGCCAGACAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DNAAF6_chrX_107201611_107249247	107204749	TTTAAATA others(61): Show TTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAATTATT TAAATAAATTTTAAATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02486.hp1 others(1): Show HG02109.hp1 HG02257.hp1 HG02486.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0017 a0001c0001t0004g0133 a0001c0001t0001g0017 a0001c0001t0004g0133	4	296	0.0135	-68	c.-19 others(79): Show c.-1944_-1877delTTAAATAAATTTTAAATAAATTATTTAAATAAAT TTTAAATAAATTATTTAAATAAATTTTAAATAAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1861		chrX	TogoVar
DNAH14_chr1_224924675_225404286	225335677	GTATATAC others(61): Show GTATATACGCATATATACATATGTGCATATATGTATATACGCATATATAC ATATGTGCATATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0105 a0105	a0105c0038 a0105c0038	a0105c0038t0001 a0105c0038t0001	a0105c0038t0001g0210 a0105c0038t0001g0210	1	240	0.0042	-68	c.100 others(89): Show c.10081-1586_10081-1519delTATACGCATATATACATATGTGCA TATATGTATATACGCATATATACATATGTGCATATATGTATATA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAI2_chr17_74269234_74319884	74301946	GGAAGGAA others(61): Show GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	398	0.0025	-68	c.987 others(83): Show c.987+790_987+857delGGAAGGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301958	GGAAGGAA others(61): Show GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0267	1	398	0.0025	-68	c.987 others(83): Show c.987+798_987+865delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAL1_chr14_73639986_73708732	73674358	CTCCTCAA others(61): Show CTCCTCAAAGGTGACCCAATCACGATGTGGGCTCCTTCTTGATCTTTACA CCTCAGCTCAGATGTTGCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp1 HG03041.hp1 others(3): Show HG00738.hp2 HG01884.hp1 HG03041.hp1 HG03130.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0028 a0001c0001t0029 others(2): Show a0001c0001t0008 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0100	a0001c0001t0008g0090 a0001c0001t0028g0115 a0001c0001t0029g0079 others(3): Show a0001c0001t0008g0090 a0001c0001t0028g0115 a0001c0001t0029g0079 a0001c0001t0029g0081 a0001c0001t0037g0080 a0001c0001t0100g0132	6	340	0.0177	-68	c.264 others(85): Show c.264+2829_264+2896delTTCCTCAAAGGTGACCCAATCACGATGT GGGCTCCTTCTTGATCTTTACACCTCAGCTCAGATGTTGC	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNM2_chr19_10713079_10836903	10758267	CTCCTTCC others(61): Show CTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0018 a0001c0009t0002g0018	1	278	0.0036	-68	c.162 others(85): Show c.162-1467_162-1400delTTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOC2B_chr17_137789_186650	170942	GCAGCACC others(61): Show GCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCG GGCCAGGCTGCAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0101 a0001c0002t0037g0101	1	339	0.0030	-68	c.453 others(85): Show c.453+1527_453+1594delTCCCCTCTGCAGCCTGGCCCGGCCCCTG GTGCTCTCCCCTCTGCAGCCTGGCCCGGCCCCTGGTGCTG	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	171138	GGAGCACC others(61): Show GGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCG GGCCAGGCTGCAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0113 a0001c0005t0007g0113	1	339	0.0030	-68	c.453 others(85): Show c.453+1331_453+1398delTCCCCTCTGCAGCCTGGCCCGGCCCCTG GTGCTCTCCCCTCTGCAGCCTGGCCCGGCCCCTGGTGCTC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOCK5_chr8_25179689_25420711	25216567	ATATGTAT others(61): Show ATATGTATAGATGTATACAATATGTGCATACAATATGTATAGATGTATAC AATATGTGCATACAATATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02630.hp2 others(2): Show HG02109.hp2 HG02257.hp2 HG02630.hp2 HG02976.hp2 HG03516.hp1	a0001 a0018 a0001 a0018	a0001c0002 a0001c0003 a0001c0014 others(1): Show a0001c0002 a0001c0003 a0001c0014 a0018c0054	a0001c0002t0006 a0001c0003t0064 a0001c0014t0005 others(2): Show a0001c0002t0006 a0001c0003t0064 a0001c0014t0005 a0001c0014t0015 a0018c0054t0001	a0001c0002t0006g0160 a0001c0003t0064g0161 a0001c0014t0005g0166 others(2): Show a0001c0002t0006g0160 a0001c0003t0064g0161 a0001c0014t0005g0166 a0001c0014t0015g0165 a0018c0054t0001g0159	5	210	0.0238	-68	c.44- others(85): Show c.44-27103_44-27036delGTATAGATGTATACAATATGTGCATACA ATATGTATAGATGTATACAATATGTGCATACAATATGTAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPY19L2_chr12_63553913_63673493	63556368	ATATACAC others(61): Show ATATACACGTGTATACATATGTATATACATATATACACGTGTATACATAT GTATATACATATATACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01515.hp2 others(8): Show HG00323.hp2 HG00642.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG02683.hp2 HG02735.hp2 HG02922.hp2 HG03471.hp1 HG03834.hp2 NA18906.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0008 a0003c0004 a0004c0008	a0003c0004t0005 a0003c0004t0009 a0004c0008t0006 a0003c0004t0005 a0003c0004t0009 a0004c0008t0006	a0003c0004t0005g0005 a0003c0004t0005g0159 a0003c0004t0005g0162 others(7): Show a0003c0004t0005g0005 a0003c0004t0005g0159 a0003c0004t0005g0162 a0003c0004t0005g0163 a0003c0004t0005g0164 a0003c0004t0005g0165 a0003c0004t0009g0161 a0004c0008t0006g0275 a0004c0008t0006g0276 a0004c0008t0006g0277	11	362	0.0304	-68	c.40 others(79): Show c.4076_*4143delCGTGTATATATGTATATACATATGTATACACGTG TATATATGTATATACATATGTATACACGTGTATA	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding		2544		chr12	TogoVar
DYM_chr18_49031387_49465645	49289726	TGTATATA others(61): Show TGTATATATATATATATATATATATATATATATATATATATATATATACA CATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00621.hp1 others(54): Show HG00323.hp1 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02300.hp2 HG02523.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 NA18747.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18961.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp2 NA19088.hp2 NA19090.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0009 a0001c0001 a0001c0004 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0032 a0001c0001t0034 a0001c0004t0001 a0003c0009t0002	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(54): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0034 a0001c0001t0002g0056 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0008g0019 a0001c0001t0008g0033 a0001c0001t0014g0036 a0001c0001t0014g0063 a0001c0001t0015g0015 a0001c0001t0015g0018 a0001c0001t0032g0013 a0001c0001t0034g0055 a0001c0004t0001g0035 a0003c0009t0002g0054	57	290	0.1966	-68	c.764 others(85): Show c.764-3178_764-3111delGTGTGTATATATATATATGTGTATATAT ATATATATATATATATATATATATATATATATATATATAC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
EIPR1_chr2_3183970_3382818	3336841	AGGAAGGG others(61): Show AGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGA AGGGAAGGGAAAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	250	0.0040	-68	c.259 others(85): Show c.259+1108_259+1175delCTTCCCTTTTCCCTTCCCTTCCCTTTTC CCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAVL3_chr19_11446326_11486046	11456930	ACTGGGAG others(61): Show ACTGGGAGCACAGGCGAGAACCACCACGTCTGGCTTTGATGTCACATCTC TCAATGGCCATGCTACTCC	A A	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0189 a0001c0001t0042g0189	1	318	0.0031	-68	c.752 others(83): Show c.752+112_752+179delGGAGTAGCATGGCCATTGAGAGATGTGACA TCAAAGCCAGACGTGGTGGTTCTCGCCTGTGCTCCCAG	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	6/6			chr19	TogoVar
ELOVL5_chr6_53262404_53353950	53306208	AAGGGGAG others(61): Show AAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGA GGGAGAGGGGAGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	320	0.0031	-68	c.-8- others(85): Show c.-8-10569_-8-10502delCTCCCCTCTCCCCTCTCCCTCTCCCCTC TCCCCTCTCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELP1_chr9_108862517_108939124	108900756	ACACACAC others(61): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GCCACACACACATACACGC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG01243.hp1 others(20): Show HG00639.hp1 HG01192.hp2 HG01243.hp1 HG01433.hp1 HG01496.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp2 NA20752.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0010 a0019	a0001c0001 a0001c0002 a0003c0005 others(7): Show a0001c0001 a0001c0002 a0003c0005 a0005c0008 a0005c0029 a0005c0030 a0005c0031 a0006c0006 a0010c0014 a0019c0028	a0001c0001t0003 a0001c0002t0004 a0003c0005t0001 others(7): Show a0001c0001t0003 a0001c0002t0004 a0003c0005t0001 a0005c0008t0001 a0005c0029t0001 a0005c0030t0001 a0005c0031t0001 a0006c0006t0008 a0010c0014t0012 a0019c0028t0022	a0001c0001t0003g0072 a0001c0002t0004g0169 a0003c0005t0001g0211 others(19): Show a0001c0001t0003g0072 a0001c0002t0004g0169 a0003c0005t0001g0211 a0005c0008t0001g0122 a0005c0008t0001g0123 a0005c0008t0001g0124 a0005c0008t0001g0127 a0005c0008t0001g0134 a0005c0008t0001g0135 a0005c0008t0001g0233 a0005c0008t0001g0234 a0005c0008t0001g0235 a0005c0008t0001g0236 a0005c0008t0001g0237 a0005c0008t0001g0254 a0005c0008t0001g0255 a0005c0029t0001g0121 a0005c0030t0001g0125 a0005c0031t0001g0249 a0006c0006t0008g0384 a0010c0014t0012g0022 a0019c0028t0022g0300	23	416	0.0553	-68	c.201 others(85): Show c.2015-449_2015-382delGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EMILIN3_chr20_41354962_41371818	41360393	GAAGGAAG others(61): Show GAAGGAAGAGGACAGTGTGGGCACCAGAGGGCCCTGGAAACATCTTAGGG GAAGGAAAGGAAAAGGATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0013 a0017c0024t0013	a0017c0024t0013g0067 a0017c0024t0013g0067	1	430	0.0023	-68	c.80 others(77): Show c.807_*874delTATCCTTTTCCTTTCCTTCCCCTAAGATGTTTCCAG GGCCCTCTGGTGCCCACACTGTCCTCTTCCTT	EMILIN3	ENSG00000183798.5	transcript	ENST00000332312.4	protein_coding	4/4	807		chr20	TogoVar
EML1_chr14_99788413_99947060	99928045	TGGTGATG others(61): Show TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTG GTGGTGGTGGAGGTGGTGG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0105 a0001c0003t0002g0105	1	288	0.0035	-68	c.190 others(87): Show c.1909+7169_1909+7236delGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGAGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
ENOX1_chr13_43208130_43791972	43616118	ATCTATAG others(61): Show ATCTATAGATATCTATCTATCTAGATATCTATATAGATAGATATCTATCT ATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0072 a0001c0001t0009g0072	1	188	0.0053	-68	c.-21 others(89): Show c.-219+51293_-219+51360delGATAGATAGATAGATAGATAGATA GATATCTATCTATATAGATATCTAGATAGATAGATATCTATAGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
EP400_chr12_131944942_132085460	132036329	ACATCGTG others(61): Show ACATCGTGGAAGGGCACACACAGGTTCACATGGAACATCGTGGAAGGACA CACCCGGGTTCACACGGAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0172 a0001c0056t0001g0172	1	208	0.0048	-68	c.595 others(87): Show c.5952-1342_5952-1275delGGGCACACACAGGTTCACATGGAACA TCGTGGAAGGACACACCCGGGTTCACACGGAGCATCGTGGAA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	30/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1084959	CTGAAAGT others(61): Show CTGAAAGTGCTGACATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTGTTGTTGTTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0086	1	162	0.0062	-68	c.108 others(87): Show c.1086+1392_1086+1459delCATTACAGGCAATATGCCTATGCCTG GCCCATTATTATTATTGTTGTTGTTGTTGTTGAAAGTGCTGA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122023	ATCTCTAT others(61): Show ATCTCTATCTATCTCTATCTCTATCTATCTATCTCTATCTCTATCTCTAT ATCTCTATCTCTATCTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	162	0.0062	-68	c.156 others(87): Show c.1569+6000_1569+6067delATCTCTATCTCTATCTATCTATCTCT ATCTCTATCTCTATATCTCTATCTCTATCTGTGTCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55720133	CTTCTTCT others(61): Show CTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp2 HG01071.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0069 a0001c0002t0001g0067 a0001c0001t0003g0069 a0001c0002t0001g0067	2	74	0.0270	-68	c.271 others(89): Show c.2712+14570_2712+14637delAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55799396	CATATATA others(61): Show CATATATATATATGCCTTATATATATGCATATATATATGCCTTATATATA TATGCATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01169.hp1 others(7): Show HG01109.hp1 HG01167.hp2 HG01169.hp1 HG02258.hp2 HG02486.hp2 HG02922.hp2 HG03540.hp2 HG06807.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0002t0004 a0001c0004t0001	a0001c0001t0001g0035 a0001c0001t0002g0021 a0001c0001t0002g0037 others(7): Show a0001c0001t0001g0035 a0001c0001t0002g0021 a0001c0001t0002g0037 a0001c0001t0004g0022 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0009g0073 a0001c0001t0012g0023 a0001c0002t0004g0001 a0001c0004t0001g0028	10	74	0.1351	-68	c.256 others(89): Show c.2565-64546_2565-64479delATATATATATATATGCATATATAT ATAAGGCATATATATATGCATATATATAAGGCATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERGIC3_chr20_35537078_35562634	35539232	ATATATAA others(61): Show ATATATAATATATATAACAGTTTATATATATATATATAACAGTTTATATA TATAATATATATAACAGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0189 a0001c0003t0001g0193 a0001c0003t0001g0189 a0001c0003t0001g0193	2	364	0.0055	-68	c.-28 others(79): Show c.-2865_-2798delTATATAATATATATAACAGTTTATATATATATAT ATAACAGTTTATATATATAATATATATAACAGTT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2845		chr20	TogoVar

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