Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(83): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02630.hp2 HG02717.hp1 others(14): Show HG02300.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03453.hp1 NA18940.hp2 NA18951.hp1 NA18955.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp2 NA19004.hp1 NA19067.hp1 NA19080.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0003 a0001c0016 a0001c0020 others(3): Show a0001c0003 a0001c0016 a0001c0020 a0002c0006 a0005c0011 a0009c0026	a0001c0003t0001 a0001c0016t0001 a0001c0020t0001 others(3): Show a0001c0003t0001 a0001c0016t0001 a0001c0020t0001 a0002c0006t0001 a0005c0011t0005 a0009c0026t0001	a0001c0003t0001g0027 a0001c0003t0001g0031 a0001c0003t0001g0032 others(14): Show a0001c0003t0001g0027 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0016t0001g0058 a0001c0020t0001g0349 a0002c0006t0001g0228 a0005c0011t0005g0370 a0009c0026t0001g0060	17	378	0.0450	-90	c.274 others(109): Show c.2747+3601_2747+3690delTCATACCCACGGCCGGGACGGGTGGG ACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGG GACGGGTGGGACTC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48730606	CTGTGTGA others(83): Show CTGTGTGAGGGGCTCCTGCGGTGTGAGGGGCCCCTGTGGTGTGAGGGGCT TCTGCGGTGTGAGGGGCTTCTGCGGTGTGAGGAGCCCCTGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02602.hp2 NA18906.hp2 HG00639.hp1 HG02602.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0001t0017 a0001c0014t0028 a0001c0001t0002 a0001c0001t0017 a0001c0014t0028	a0001c0001t0002g0042 a0001c0001t0017g0100 a0001c0014t0028g0095 a0001c0001t0002g0042 a0001c0001t0017g0100 a0001c0014t0028g0095	3	144	0.0208	-90	c.584 others(109): Show c.584+18912_584+19001delTGTGTGAGGGGCTCCTGCGGTGTGAG GGGCCCCTGTGGTGTGAGGGGCTTCTGCGGTGTGAGGGGCTTCTGCGGTG TGAGGAGCCCCTGA		CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11						chr18	TogoVar
DAB2IP_chr9_121646634_121790530	121653156	CAGTACTA others(83): Show CAGTACTAAGCCTTTAGTACTCCTTGGAGGGAGTACTAAGCCTTTAGTAC TCCTTGGAGGGAGTACTAAGCCTTTAGTACTCCTTGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02723.hp1 HG00323.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0005 a0001c0001t0001 a0001c0007t0005	a0001c0001t0001g0011 a0001c0007t0005g0010 a0001c0001t0001g0011 a0001c0007t0005g0010	2	224	0.0089	-90	c.124 others(107): Show c.124+1296_124+1385delGCCTTTAGTACTCCTTGGAGGGAGTACT AAGCCTTTAGTACTCCTTGGAGGGAGTACTAAGCCTTTAGTACTCCTTGG AGGGAGTACTAA		DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAGLB_chr7_6404129_6452954	6421307	TCAGGCAG others(83): Show TCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19056.hp2 HG00099.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0239 a0001c0001t0003g0216 a0001c0001t0003g0239	2	380	0.0053	-90	c.121 others(107): Show c.1218+330_1218+419delCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTG		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14						chr7	TogoVar
DCC_chr18_52335197_53540899	53428740	CTATATAT others(83): Show CTATATATTTTATATATAATAAATTATATATTATATATTTTATATATAAT AAATTATATATTATATATTTTATATATAATAAATTATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0022 a0001c0015t0022	a0001c0015t0022g0101 a0001c0015t0022g0101	1	114	0.0088	-90	c.316 others(109): Show c.3164-6283_3164-6194delTATATATTTTATATATAATAAATTAT ATATTATATATTTTATATATAATAAATTATATATTATATATTTTATATAT AATAAATTATATAT		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2C_chr2_3698575_3853008	3725710	CAAAGAGT others(83): Show CAAAGAGTGACGAGGCTGGCCAGGTGGATCCCGGAGAGAGACTGCCAGAG AGTGATGAGGGTGGCCAGGTGGATCCCGGAGGGAGATGAGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0164 a0001c0002t0025g0164	1	324	0.0031	-90	c.340 others(107): Show c.340-1291_340-1202delAAGAGTGACGAGGCTGGCCAGGTGGATC CCGGAGAGAGACTGCCAGAGAGTGATGAGGGTGGCCAGGTGGATCCCGGA GGGAGATGAGTA		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DEF8_chr16_89943755_89973060	89948966	CGGCGGGG others(83): Show CGGCGGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGTCGGGGCTGGGA GGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGTCGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02818.hp1 others(3): Show HG02258.hp2 HG02280.hp2 HG02818.hp1 HG03209.hp1 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0002t0011 a0001c0001t0001 a0001c0002t0007 a0001c0002t0011	a0001c0001t0001g0217 a0001c0002t0007g0048 a0001c0002t0007g0214 others(2): Show a0001c0001t0001g0217 a0001c0002t0007g0048 a0001c0002t0007g0214 a0001c0002t0011g0215 a0001c0002t0011g0216	6	392	0.0153	-90	c.-10 others(107): Show c.-108+155_-108+244delCGGGGACGGGGCCGGCGGGGACGGGGCC GGCGGGGTCGGGGCTGGGAGGGACGGGGCCGGCGGGGACGGGGTCGGCGG GGTCGGGGCTGG		DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
DHRSX_chrX_2214506_2505976	2276893	AAGAGAGA others(83): Show AAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAA CGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	50	0.0200	-90	c.389 others(108): Show c.389-10036_389-9947delCTTCCCCCATTTCCTCCTCTTCCTTCT CTCTCCCTCTCTCGTTTGCCCTCCCTCTCTCTCCCTGTTCCCTCTCCATC TCTCTTTCTCTCT		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2277338	AAGAAAGA others(83): Show AAGAAAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCA AACGAGAGGGAGAGAGAAGGAGGGGAGGAAATAGGGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG01928.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0029 a0001c0001t0001g0041	2	50	0.0400	-90	c.389 others(109): Show c.389-10481_389-10392delCTTTCCCCTATTTCCTCCCCTCCTTC TCTCTCCCTCTCGTTTGCCCTCCCTCTCTCTCCCTGTTCCCTCTCCATCT CTCTTTCTCTTTCT		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DIP2C_chr10_269201_694668	321579	GCGGGGCT others(83): Show GCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	-90	c.392 others(109): Show c.3924+5337_3924+5426delACTGACTGTTCTAACAGCGCCGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTC TCGCTGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	321677	GCGGGGCT others(83): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0074 a0001c0020t0008g0074	1	88	0.0114	-90	c.392 others(109): Show c.3924+5239_3924+5328delACTGACTGTTCTAACAGCGCCGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTC TCGCCGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322608	GCGGGGCT others(83): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	88	0.0114	-90	c.392 others(109): Show c.3924+4308_3924+4397delACTGACTGTTCTAACAACACTGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTC TCGCCGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322706	GCGGGGCT others(83): Show GCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	88	0.0114	-90	c.392 others(109): Show c.3924+4210_3924+4299delACTGACTGTTCTAACAACACTGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTC TCGCTGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	323000	GCGGGGCT others(83): Show GCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp2 HG02071.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	88	0.0227	-90	c.392 others(109): Show c.3924+3916_3924+4005delACTGACTGTTCTAACAGCGCCGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGTCTC TCGCCGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	323147	GCGGGGCT others(83): Show GCGGGGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTG CGGGGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA20805.hp1 NA18962.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0023 a0001c0004t0003g0039 a0001c0001t0001g0023 a0001c0004t0003g0039	2	88	0.0227	-90	c.392 others(109): Show c.3924+3769_3924+3858delACTGACTGTTCTAACAACGCCGGTCT CTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGTCTC TCACTGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	480275	GGGTCCAT others(83): Show GGGTCCATGCTCACTGGATAAGACTCATCCACCAGCCTGAGCTCCGGTCC ATGCTCACTGGATGAGGGTCTCATCCACCAGCCTGAGCTCC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0017 a0001c0006 a0001c0017	a0001c0006t0002 a0001c0017t0002 a0001c0006t0002 a0001c0017t0002	a0001c0006t0002g0046 a0001c0017t0002g0064 a0001c0006t0002g0046 a0001c0017t0002g0064	2	88	0.0227	-90	c.157 others(107): Show c.157+6094_157+6183delGGAGCTCAGGCTGGTGGATGAGACCCTC ATCCAGTGAGCATGGACCGGAGCTCAGGCTGGTGGATGAGTCTTATCCAG TGAGCATGGACC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36						chr10	TogoVar
DIP2C_chr10_269201_694668	532664	GGTGTGAG others(83): Show GGTGTGAGAGAGAGTATGGGTGTGAGAGAGTATGGGTGTGAGAGAGAGTA TGGGTGTGAGAGAGAGTATGGGTGTGAGAGAGAGTATGGGT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02300.hp2 HG01981.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0049 a0001c0001t0001g0051	2	88	0.0227	-90	c.86- others(107): Show c.86-46224_86-46135delACCCATACTCTCTCTCACACCCATACTC TCTCTCACACCCATACTCTCTCTCACACCCATACTCTCTCACACCCATAC TCTCTCTCACAC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	608315	ACACACAC others(83): Show ACACACACAGCCCCTACACACACACAGCCCCCCCACACACCCCCCCACAG CCCCCCCCACACACAGCCCCCCACACACACACCCCCACAGC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01952.hp2 HG02004.hp2 HG00597.hp2 HG01952.hp2 HG02004.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0002 a0001c0008t0001 a0001c0005t0002 a0001c0008t0001	a0001c0005t0002g0016 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0005t0002g0016 a0001c0008t0001g0018 a0001c0008t0001g0019	3	88	0.0341	-90	c.85+ others(107): Show c.85+81089_85+81178delGCTGTGGGGGTGTGTGTGTGGGGGGCTG TGTGTGGGGGGGGCTGTGGGGGGGTGTGTGGGGGGGCTGTGTGTGTGTAG GGGCTGTGTGTG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	608437	ACACCCCC others(83): Show ACACCCCCCCCACACCCATCCCCCCACACCCACACACACACCCACACACC CCCCCACCCCCCCCACACACACACCCCCCCACACACCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02004.hp2 NA19074.hp2 HG00597.hp2 HG02004.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0002 a0001c0008t0001 a0001c0005t0002 a0001c0008t0001	a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0008t0001g0018 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0008t0001g0018	3	88	0.0341	-90	c.85+ others(107): Show c.85+80967_85+81056delGGGGGGTGTGTGGGGGGGTGTGTGTGTG GGGGGGGTGGGGGGGTGTGTGGGTGTGTGTGTGGGTGTGGGGGGATGGGT GTGGGGGGGGTG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLG2_chr11_83450173_85632344	84502202	CCTTCCTT others(83): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	14	0.0714	-90	c.519 others(109): Show c.519+32278_519+32367delAAGAAAGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAG		DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27						chr11	TogoVar
DLGAP2_chr8_732628_1713476	1039521	TTCAGCTC others(83): Show TTCAGCTCGGTGTGCGTGGTCAGCTTGGTGTGCGTGGTCAGCTTGGTGTG CGTGGTCAGCTCGGTGTGCGTGGTCAGCTTGGTGTGCGTGG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02818.hp1 HG02698.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0027 a0002c0004t0018 a0001c0002t0027 a0002c0004t0018	a0001c0002t0027g0023 a0002c0004t0018g0010 a0001c0002t0027g0023 a0002c0004t0018g0010	2	40	0.0500	-90	c.73+ others(109): Show c.73+131580_73+131669delTGGTGTGCGTGGTCAGCTTGGTGTGC GTGGTCAGCTCGGTGTGCGTGGTCAGCTTGGTGTGCGTGGTCAGCTCGGT GTGCGTGGTCAGCT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1039571	CGTGGTCA others(83): Show CGTGGTCAGCTCGGTGTGCGTGGTCAGCTTGGTGTGCGTGGTCAGCTCGG TGTGCGTGGTCAGCTCGGTGTGCGTGGTCAGCTCGGTGTGG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	40	0.0250	-90	c.73+ others(109): Show c.73+131634_73+131723delTGGTGTGCGTGGTCAGCTCGGTGTGC GTGGTCAGCTCGGTGTGCGTGGTCAGCTCGGTGTGGGTGGTCAGCTCGGT GTGCGTGGTCAGCT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1255771	TGTGTGTG others(83): Show TGTGTGTGTGTCCTCTCATCCTGCCTGGGTGCTATGTGTGTGTCTTCTCC TGCCCAGGTGCTGTGTGTGTGTCCTCTCCTGCCTGGGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	-90	c.74- others(105): Show c.74-2990_74-2901delCGTGTGTGTGTCCTCTCATCCTGCCTGGGT GCTATGTGTGTGTCTTCTCCTGCCCAGGTGCTGTGTGTGTGTCCTCTCCT GCCTGGGTGC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351052	GCCGTGCA others(83): Show GCCGTGCAGATCCTGAGTGTGTGTGGAAACACCGTGCGGGTCCTGACTGT GTGTGGAAAGGCCGTGCAGATCCTGAGTGTGTGTGGAAACA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG03492.hp2 HG02074.hp1 HG02074.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0009 a0002c0001t0020 a0001c0002t0002 a0001c0002t0009 a0002c0001t0020	a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0020g0024 a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0020g0024	3	40	0.0750	-90	c.106 others(109): Show c.106+92176_106+92265delAGATCCTGAGTGTGTGTGGAAACACC GTGCGGGTCCTGACTGTGTGTGGAAAGGCCGTGCAGATCCTGAGTGTGTG TGGAAACACCGTGC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452396	AAGGGAAA others(83): Show AAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0025 a0002c0052t0025	a0002c0052t0025g0095 a0002c0052t0025g0095	1	126	0.0079	-90	c.360 others(109): Show c.3603+2176_3603+2265delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCTTTCCCT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78						chrX	TogoVar
DMRT2_chr9_1045357_1062552	1054794	CAAAAATT others(83): Show CAAAAATTTTTAAGTAGACATTTGGATTCTGTTTTTTTCTTGTGTAGCTT CTGAATTTTGTTGGTTCTGGACAGGTTTGTGTGTGTCCTAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp1 HG02630.hp2 HG03471.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0014 a0001c0002 a0009c0014	a0001c0002t0004 a0009c0014t0004 a0001c0002t0004 a0009c0014t0004	a0001c0002t0004g0063 a0009c0014t0004g0062 a0001c0002t0004g0063 a0009c0014t0004g0062	2	488	0.0041	-90	c.628 others(107): Show c.628+1048_628+1137delGTGTGTGTCCTATAAAAATTTTTAAGTA GACATTTGGATTCTGTTTTTTTCTTGTGTAGCTTCTGAATTTTGTTGGTT CTGGACAGGTTT		DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAH9_chr17_11593470_11974748	11711892	ATAAATAT others(83): Show ATAAATATATATATTTGTATATATATTTATATATAAATATATATATTTGT ATATATATTTATATATAAATATATATATTTGTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03195.hp1 HG02717.hp1 HG02976.hp2 HG03195.hp1	a0014 a0055 a0071 a0014 a0055 a0071	a0014c0074 a0055c0073 a0071c0087 a0014c0074 a0055c0073 a0071c0087	a0014c0074t0001 a0055c0073t0001 a0071c0087t0001 a0014c0074t0001 a0055c0073t0001 a0071c0087t0001	a0014c0074t0001g0084 a0055c0073t0001g0016 a0071c0087t0001g0120 a0014c0074t0001g0084 a0055c0073t0001g0016 a0071c0087t0001g0120	3	178	0.0169	-90	c.555 others(109): Show c.5552+6710_5552+6799delAATATATATATTTGTATATATATTTA TATATAAATATATATATTTGTATATATATTTATATATAAATATATATATT TGTATATATATTTA		DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	26/68					INFO_REALIGN_3_PRIME	chr17	TogoVar
DOCK8_chr9_209865_470255	403878	CTCTCTCT others(83): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATACATATATATAT ATGTGTATATATATATGTGTATATATATATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0001 a0001c0067t0001	a0001c0067t0001g0006 a0001c0067t0001g0006	1	256	0.0039	-90	c.323 others(108): Show c.3235-1038_3235-949delCTCTCTCTCTCTCTATATATATATATA TATATATATACATATATATATATGTGTATATATATATGTGTATATATATA TATGTATATATAT		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403888	CTCTCTAT others(83): Show CTCTCTATATATATATATATATATATATACATATATATATATGTGTATAT ATATATGTGTATATATATATATGTATATATATATATATGTG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0001 a0004c0040t0001	a0004c0040t0001g0216 a0004c0040t0001g0216	1	256	0.0039	-90	c.323 others(108): Show c.3235-1028_3235-939delCTCTATATATATATATATATATATATA CATATATATATATGTGTATATATATATGTGTATATATATATATGTATATA TATATATATGTGT		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403904	ATATATAT others(83): Show ATATATATATATACATATATATATATGTGTATATATATATGTGTATATAT ATATATGTATATATATATATATGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA21309.hp1 NA19240.hp2 NA21309.hp1	a0014 a0016 a0014 a0016	a0014c0065 a0016c0081 a0014c0065 a0016c0081	a0014c0065t0001 a0016c0081t0001 a0014c0065t0001 a0016c0081t0001	a0014c0065t0001g0165 a0016c0081t0001g0082 a0014c0065t0001g0165 a0016c0081t0001g0082	2	256	0.0078	-90	c.323 others(108): Show c.3235-1001_3235-912delCATATATATATATGTGTATATATATAT GTGTATATATATATATGTATATATATATATATGTGTATATATATATATGT GTATATATATATA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619155	CCCCCCCG others(83): Show CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCCTGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	250	0.0040	-90	c.-10 others(109): Show c.-107+5443_-107+5532delGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCTCCCTGCTCCCTCCCTGCA GCCCCCTGCCCCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619185	CCCCCCCG others(83): Show CCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCTCCCTGCTCCCTCCCT GCAGCCCCCTGCCCCCCCACTCCCCTCCCTGCAGCTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20129.hp2 HG00733.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0169 a0002c0002t0005g0163 a0001c0001t0002g0169 a0002c0002t0005g0163	2	250	0.0080	-90	c.-10 others(109): Show c.-107+5473_-107+5562delGCTCCCCTCCCTGCAGCCCCCCTGCC CTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCACTCCCCTCCCTGCA GCTCCCTGCCCCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137565597	GTGACTCT others(83): Show GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAA GCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18975.hp2 NA18747.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0183 a0001c0001t0001g0061 a0001c0001t0001g0183	2	340	0.0059	-90	c.641 others(105): Show c.641-533_641-444delTCCAGGGGAGCTTCCTCACAGACAGAGTCA CCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACA GACAGAGTCA		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565684	TGGATGAC others(83): Show TGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	340	0.0029	-90	c.641 others(105): Show c.641-620_641-531delCGGGGAGCTTCCTCACAGACAGAGTCACCC AGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGAC AGAGTCATCC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565744	TGGGTGAC others(83): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02572.hp1 HG02717.hp2 others(1): Show HG01261.hp2 HG02572.hp1 HG02717.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0176	4	340	0.0118	-90	c.641 others(105): Show c.641-680_641-591delCGGGGAGCTTCCTCACAGACAGAGTCACCC CGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCACAGAC AGAGTCACCC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566307	CTGTCTGT others(83): Show CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03942.hp2 HG02015.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0192 a0001c0001t0001g0091 a0001c0001t0001g0192	2	340	0.0059	-90	c.641 others(107): Show c.641-1243_641-1154delCAGTCACCCAGGGGAGCTTCCTCACAGA CAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCT TCCTCACAGACA		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566334	ACTCTGTC others(83): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03669.hp2 HG00639.hp1 HG03669.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0121 a0006c0008t0001g0053 a0001c0001t0001g0121 a0006c0008t0001g0053	2	340	0.0059	-90	c.641 others(107): Show c.641-1270_641-1181delAGTCACCCAGGGGAGCTTCCTCACAGAC AGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCC TCACAGACAGAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567018	ACTCTGTC others(83): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	340	0.0029	-90	c.641 others(107): Show c.641-1954_641-1865delAGTCACCCAGGGGAGCTTCCTCACAGAC AGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCC TCACAGACAGAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567312	ACTCTGTC others(83): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	340	0.0029	-90	c.641 others(107): Show c.641-2248_641-2159delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCC TCACAGACAGAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567636	ACTGTCTG others(83): Show ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCC CCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02559.hp2 HG00597.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0197 a0001c0001t0003g0245 a0001c0001t0001g0197 a0001c0001t0003g0245	2	340	0.0059	-90	c.641 others(107): Show c.641-2572_641-2483delAGTCACCCCGGGGAGCTTCCTCACGGAC AGAGTCACCCCGGGGAGCTTCCTCACGGACAGAGTCACCCAGGGGAGCTT CCTCACAGACAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPP9_chr19_4670227_4728842	4671880	TATATATA others(83): Show TATATATATATTCATATATTCACATATGTGAATATATATATTCATATATT CACATATGTGAATATATATATTCATATATTCACATATGTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01884.hp1 HG02132.hp2 others(13): Show HG00609.hp2 HG01884.hp1 HG02132.hp2 HG03486.hp1 NA18944.hp1 NA18946.hp2 NA18954.hp1 NA18967.hp2 NA18973.hp2 NA18982.hp1 NA18984.hp1 NA19005.hp1 NA19064.hp2 NA19074.hp1 NA19083.hp1 NA19086.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0007 a0010c0008 a0001c0001 a0001c0007 a0010c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0007t0003 a0010c0008t0003	a0001c0001t0001g0168 a0001c0001t0003g0058 a0001c0001t0003g0084 others(13): Show a0001c0001t0001g0168 a0001c0001t0003g0058 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0150 a0001c0001t0003g0214 a0001c0001t0012g0060 a0001c0007t0003g0167 a0010c0008t0003g0070	16	314	0.0510	-90	c.45 others(101): Show c.4594_*4683delTCACATATGTGAATATATGAATATATATATTCAC ATATGTGAATATATGAATATATATATTCACATATGTGAATATATGAATAT ATATAT		DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding					3346		chr19	TogoVar
DPYD_chr1_97072743_97926034	97130751	CCCTTCCT others(83): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCCTCTCT CCCTCTTTCTTTCTTTCTTCCTTTCTTTCTTCTTTCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	52	0.0192	-90	c.262 others(111): Show c.2623-32209_2623-32120delAAGGAGAAAGAAGAAAGAAAGGAA GAAAGAAAGAAAGAGGGAGAGAGGGAAGGAGGGAAGGAAAGGAAGGAAGG AAGGAAGGAAGGAAGG		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22						chr1	TogoVar
DSPP_chr4_87603529_87621873	87615893	CAGCAGTG others(83): Show CAGCAGTGATAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAATAGCA GTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02897.hp2 HG02897.hp2	a0056 a0056	a0056c0071 a0056c0071	a0056c0071t0001 a0056c0071t0001	a0056c0071t0001g0044 a0056c0071t0001g0044	1	450	0.0022	-90	c.324 others(99): Show c.3240_3329delTAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAA TAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCA GTGA	p.Ser others(15): Show p.Ser1081_Asp1110del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3360/4331	3240/3906	1080/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DUXA_chr19_57149021_57172485	57171956	GCTGGGGT others(83): Show GCTGGGGTCCGGGGAGCGCGAGCGGGGGTCCGGGGGGCGGGGGCCGCGGG CCGCGAGGGGGGCGGGGGCCGCGAGGGGGCGGGGCGTGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00673.hp1 others(12): Show HG00140.hp1 HG00323.hp1 HG00673.hp1 HG01517.hp1 HG02074.hp1 HG02083.hp1 HG02683.hp1 NA18939.hp1 NA18962.hp1 NA18971.hp1 NA18989.hp2 NA19002.hp2 NA19064.hp1 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0002g0005 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0051	15	446	0.0336	-90	c.-46 others(101): Show c.-4603_-4514delTCGCACGCCCCGCCCCCTCGCGGCCCCCGCCCCC CTCGCGGCCCGCGGCCCCCGCCCCCCGGACCCCCGCTCGCGCTCCCCGGA CCCCAG		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4472		chr19	TogoVar
ECI2_chr6_4110706_4140575	4135584	GGGGGCTC others(83): Show GGGGGCTCGGGGGTGGGGCCGGGTCTCGGGGGCGGGGCCTAGCTCGGTCT GCGGGGGCTCGGGGGTGGGGCCGGGTCTCGGGGGTGGAGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0068 a0006c0009t0001g0068	1	370	0.0027	-90	c.-11 others(98): Show c.-114_-25delGGCTCCACCCCCGAGACCCGGCCCCACCCCCGAGCCC CCGCAGACCGAGCTAGGCCCCGCCCCCGAGACCCGGCCCCACCCCCGAGC CCC		ECI2	ENSG00000198721.13	transcript	ENST00000380118.8	protein_coding					10		chr6	TogoVar
ECI2_chr6_4110706_4140575	4135588	GCTCGGGG others(83): Show GCTCGGGGGTGGGGCCGGGTCTCGGGGGCGGGGCCTAGCTCGGTCTGCGG GGGCTCGGGGGTGGGGCCGGGTCTCGGGGGTGGAGCCGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG02486.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0070 a0002c0002t0001g0069 a0001c0001t0001g0070 a0002c0002t0001g0069	2	370	0.0054	-90	c.-11 others(98): Show c.-118_-29delTCCCGGCTCCACCCCCGAGACCCGGCCCCACCCCCGA GCCCCCGCAGACCGAGCTAGGCCCCGCCCCCGAGACCCGGCCCCACCCCC GAG		ECI2	ENSG00000198721.13	transcript	ENST00000380118.8	protein_coding					14		chr6	TogoVar
ELOVL7_chr5_60746791_60849269	60819044	GGGAGGGG others(83): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0041 a0001c0001t0019g0041	1	258	0.0039	-90	c.-85 others(109): Show c.-85-19904_-85-19815delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCC		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
ENOSF1_chr18_665318_717630	666888	GGGAGATG others(83): Show GGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATG GAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG03834.hp2 NA18943.hp2 others(1): Show HG00597.hp1 HG03834.hp2 NA18943.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0047 a0001c0001t0002g0068 others(1): Show a0001c0001t0002g0030 a0001c0001t0002g0047 a0001c0001t0002g0068 a0001c0001t0002g0114	4	418	0.0096	-90	c.73 others(101): Show c.7327_*7416delATCTCCATCACCATCTCCATCTCCATCACCATCA CCATCTCCATCACCATCACCATCTCCATCACCATCACCATCTCCATCACC ATCTCC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3429		chr18	TogoVar
ENOSF1_chr18_665318_717630	666939	AGATGGTG others(83): Show AGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTG ATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0150 a0001c0001t0016g0150	1	418	0.0024	-90	c.72 others(101): Show c.7276_*7365delACCATCTCCATCTCCATCACCATCACCATCTCCA TCACCATCACCATCTCCATCTCCATCACCATCTCCATCTCCATCACCATC ACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3378		chr18	TogoVar
EPHX1_chr1_225805124_225850563	225830620	ATGCCTGG others(83): Show ATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTT GGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	422	0.0024	-90	c.184 others(107): Show c.184-1153_184-1064delGGCTAATTTTTGTATTTTTAGTAGAGAT GGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTG ATCCACCTGCCT		EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar

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