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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DCLK2_chr4_150073445_150262438	150251147	C C	CCCACACC others(93): Show CCCACACCCCCCACACCCCCACACCCCCCACACCCCCACACACCCCCACA CCACACATCCCCCACACCCCCCAACACCCCCACACCCCCCACATCCCCAC A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	116	0.0086	100	c.207 others(119): Show c.2073+1469_2073+1470insCCCCCACACCCCCACACCCCCCACAC CCCCACACACCCCCACACCACACATCCCCCACACCCCCCAACACCCCCAC ACCCCCCACATCCCCACACCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(93): Show CAGGAGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGGAAGGCAGGG CAGGGGAGGGGAGGGGAGGGGAGGGGAGGGCAGGGGAGGGCAGGGGAGGG G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03834.hp2 HG02145.hp1 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0255 a0001c0002t0001g0210 a0001c0002t0001g0255	2	345	0.0058	100	c.387 others(117): Show c.387+1234_387+1235insCCCCTCCCCTGCCCTCCCCTGCCCTCCC CTCCCCTCCCCTCCCCTCCCCTGCCCTGCCTTCCCCTCCCCTCCCCTGCC CTCCCCTGCCCTCCCCTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690331	G G	GAGGGGAG others(93): Show GAGGGGAGGGGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGG GAGGGCAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGGGAGGG C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp1 HG02129.hp1 others(6): Show HG02040.hp2 HG02074.hp1 HG02129.hp1 NA18943.hp1 NA18945.hp2 NA18959.hp1 NA18995.hp2 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 others(6): Show a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229	9	345	0.0261	100	c.387 others(117): Show c.387+1169_387+1170insGCCCTCCCCTGCCCTCCCCTCCCCTGCC CTCCCCTGCCCTCCCCTGCCCTCCCCTGCCCTCCCCTCCCCTGCCCTCCC CTGCCCTCCCCTCCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGTG others(93): Show CGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTG G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	367	0.0027	100	c.-42 others(111): Show c.-4238_-4237insGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGA GGGAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DENND4C_chr9_19225693_19379281	19365708	T T	TAGAACTG others(93): Show TAGAACTGCATATGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp2 HG01261.hp2 others(8): Show HG00621.hp2 HG01081.hp2 HG01261.hp2 HG01928.hp2 HG02293.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG03540.hp1 NA19064.hp2 NA19070.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0021	a0001c0001 a0003c0004 a0005c0007 others(1): Show a0001c0001 a0003c0004 a0005c0007 a0021c0026	a0001c0001t0002 a0003c0004t0002 a0005c0007t0009 others(1): Show a0001c0001t0002 a0003c0004t0002 a0005c0007t0009 a0021c0026t0002	a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0105 others(8): Show a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0105 a0003c0004t0002g0039 a0003c0004t0002g0051 a0003c0004t0002g0054 a0003c0004t0002g0071 a0005c0007t0009g0034 a0005c0007t0009g0036 a0005c0007t0009g0064 a0021c0026t0002g0037	11	292	0.0377	100	c.552 others(119): Show c.5524+3756_5524+3757insTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAACTGCATA	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND6B_chr22_50304030_50332012	50316922	G G	GGGGGGGG others(93): Show GGGGGGGGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCGGGGGGG CGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGCGGGGGGGGGGG C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0165 a0001c0001t0035g0165	1	326	0.0031	100	c.453 others(115): Show c.453+370_453+371insGCCCCCCCCCCCGCCCTGTCCTCGTGGCCC CCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTGTCCTCGCCGCCCCCCC GCCCTGTCCTCGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(93): Show CGGGGGGGGCGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGG GGGGGGCCACGAGGACAGGGCGGGGGGGGGGGGGCGGCGAGGACAGGGTG G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	326	0.0031	100	c.453 others(115): Show c.453+356_453+357insCCACCCTGTCCTCGCCGCCCCCCCCCCCCC GCCCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCCGCC CTGTCCTCGCCGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(93): Show CGGGGGGGGCGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGG GGGGGGGCCACGAGGACAGGGCGGGGGGGGGGGGGCGGCGAGGACAGGGT G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0009 a0001c0012t0009	a0001c0012t0009g0193 a0001c0012t0009g0193	1	326	0.0031	100	c.453 others(115): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCCCG CCCTGTCCTCGTGGCCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCCGCC CTGTCCTCGCCGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(93): Show GCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCC TCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	370	0.0027	100	c.27 others(111): Show c.2765_*2766insAGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCG GCGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGGG AGGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(93): Show GCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	100	c.27 others(111): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCG GCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGKH_chr13_42043648_42247896	42151533	A A	ATATATAT others(93): Show ATATATATATACACGTGTATATATATACACGTGTATATATATATACACGT GTATATATATACACGTGTATATATATATACACGTGTATATATATACACGT G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0186 a0001c0003t0025g0186	1	316	0.0032	100	c.385 others(117): Show c.385-3748_385-3747insCACGTGTATATATATACACGTGTATATA TATATACACGTGTATATATATACACGTGTATATATATATACACGTGTATA TATATACACGTGTATATATATA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137638574	A A	ATATGTAT others(93): Show ATATGTATATATATGTGTGTATATATATACACACATATATGTATATATAC ACATATATACATATATGTATATATACACATATATACATATATGTATATAT G	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp2 NA18906.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0008 a0001c0006t0013 a0001c0009t0040 a0001c0006t0008 a0001c0006t0013 a0001c0009t0040	a0001c0006t0008g0030 a0001c0006t0013g0007 a0001c0009t0040g0086 a0001c0006t0008g0030 a0001c0006t0013g0007 a0001c0009t0040g0086	3	94	0.0319	100	c.804 others(117): Show c.804+6897_804+6898insCATATATACATATATGTATATATGTGTA TATATACATATATGTATATATGTGTATATATACATATATGTGTGTATATA TATACACACATATATATACATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DIP2C_chr10_269201_694668	321531	G G	GGGGGTTC others(93): Show GGGGGTTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGGGAAGGCCTG CGGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	88	0.0114	100	c.392 others(119): Show c.3924+5474_3924+5475insGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCACTGGAGCCCCCGCAGGCCTTCCCTGACTGTTCTAACA GCGCCGGTCTCTCGCTGGAACCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322609	C C	CGGGGGCT others(93): Show CGGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGC G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	88	0.0114	100	c.392 others(119): Show c.3924+4396_3924+4397insCGCACCCCCGACTGACTGTTCTAACA ACACTGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCGCCGGAGCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477510	A A	AGGGGAAG others(93): Show AGGGGAAGTGGATAGATGGCAGGTGGGGGAGAGAGAGGAGAAAGGTGCAT AAAGGGAGGGGGAGAGGAAGGAGGGGGCACAGGGGGAGGAAGGGGCACGG G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0039 a0001c0004t0003g0039	1	88	0.0114	100	c.158 others(117): Show c.158-4962_158-4961insCCCGTGCCCCTTCCTCCCCCTGTGCCCC CTCCTTCCTCTCCCCCTCCCTTTATGCACCTTTCTCCTCTCTCTCCCCCA CCTGCCATCTATCCACTTCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477510	A A	AGGGGAAG others(93): Show AGGGGAAGTGGATAGATGGCAGGTGGGGGAGAGAGAGGAGAAAGGTGGAT AAAGGGAGGGGGAGAGGAAGGAGGGGGCACAGGGGGAGGAAGGGGCACGG G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01934.hp1 HG02040.hp2 others(4): Show HG00609.hp1 HG01934.hp1 HG02040.hp2 HG02132.hp1 HG02165.hp1 HG02300.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0011t0003	a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0066 others(4): Show a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0002g0067 a0001c0002t0003g0030 a0001c0002t0003g0043 a0001c0011t0003g0088	7	88	0.0796	100	c.158 others(117): Show c.158-4962_158-4961insCCCGTGCCCCTTCCTCCCCCTGTGCCCC CTCCTTCCTCTCCCCCTCCCTTTATCCACCTTTCTCCTCTCTCTCCCCCA CCTGCCATCTATCCACTTCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846867	A A	ATATATAT others(93): Show ATATATATACACACGTATATATATATATATATACACACGTATATATATAT ATACACACGTATATATATATACACGTATATATATATACATATATATATGT G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	200	0.0050	100	c.474 others(115): Show c.474+315_474+316insCACATATATATATGTATATATATATACGTG TATATATATATACGTGTGTATATATATATATACGTGTGTATATATATATA TATATACGTGTGTATATATA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92846867	A A	ATATATAT others(93): Show ATATATATACACACGTATATATATATATATATACACACGTATATATATAT ATACACACGTATATATATATATACACGTATATATATATACATATATATGT G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp1 NA19240.hp2 HG02055.hp1 HG02976.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0187 a0001c0001t0007g0186 a0001c0001t0007g0190 a0001c0001t0002g0187 a0001c0001t0007g0186 a0001c0001t0007g0190	3	200	0.0150	100	c.474 others(115): Show c.474+315_474+316insCACATATATATGTATATATATATACGTGTA TATATATATATACGTGTGTATATATATATATACGTGTGTATATATATATA TATATACGTGTGTATATATA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92914901	C C	CCTGGTGA others(93): Show CCTGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGAGT GGTGGTGCACACCTATAATCCCAGCTACTCGGGAGGCTGAGGGACCAGAG T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01109.hp2 HG01884.hp1 others(15): Show HG00423.hp2 HG01109.hp2 HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02683.hp2 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp2 HG03516.hp2 NA18906.hp2 NA18979.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0003 a0001c0004t0004 a0002c0005t0003	a0001c0001t0002g0072 a0001c0001t0003g0083 a0001c0001t0003g0105 others(15): Show a0001c0001t0002g0072 a0001c0001t0003g0083 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0144 a0001c0001t0003g0199 a0001c0001t0004g0148 a0001c0001t0004g0189 a0001c0003t0003g0104 a0001c0003t0003g0113 a0001c0004t0004g0075 a0001c0004t0004g0076 a0002c0005t0003g0077 a0002c0005t0003g0078	18	200	0.0900	100	c.55- others(117): Show c.55-38571_55-38472dupACTCTGGTCCCTCAGCCTCCCGAGTAGC TGGGATTATAGGTGTGCACCACCACTCCTGGCTAATTTTTTTGTATTTTT AGTAGAGATGGGGTTTCACCAG	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	1/4			chr1	TogoVar
DLGAP2_chr8_732628_1713476	747862	G G	GCCTGCGG others(93): Show GCCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTG GGATGGGCGGGTCTGCGGTAGGATGGGCGGGTCTGCGGTGGGATGGGGGG C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	40	0.0250	100	c.18+ others(117): Show c.18+10037_18+10038insCCTGCGGTGGGATGGGGGGCTCTGCGGT GGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTAGGATGGGCG GGTCTGCGGTGGGATGGGGGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1302357	C C	CTGTGAGT others(93): Show CTGTGAGTTCCCGAGCTCTGCTCCACACCTGGGACTGGACTCGGAAGTTT CTGTGAATTCTCGAGCTCTGCTCCATACCCGGGACTGGACTCAGTATTTT A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03492.hp1 HG03516.hp1 HG02895.hp2 HG03492.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0001 a0002c0007 a0001c0011 a0002c0001 a0002c0007	a0001c0011t0015 a0002c0001t0007 a0002c0007t0008 a0001c0011t0015 a0002c0001t0007 a0002c0007t0008	a0001c0011t0015g0002 a0002c0001t0007g0038 a0002c0007t0008g0040 a0001c0011t0015g0002 a0002c0001t0007g0038 a0002c0007t0008g0040	3	40	0.0750	100	c.106 others(119): Show c.106+43498_106+43499insCACCTGGGACTGGACTCGGAAGTTTC TGTGAATTCTCGAGCTCTGCTCCATACCCGGGACTGGACTCAGTATTTTA TGTGAGTTCCCGAGCTCTGCTCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1449935	G G	GGCGGAGC others(93): Show GGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGACTGAGGC GGAGCTGTGAGGGTGAAGACGAGGTGGGCGTCCTCGGTGGCTGTGACTGT A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03710.hp2 HG02698.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0010 a0002c0004t0018 a0001c0002t0010 a0002c0004t0018	a0001c0002t0010g0008 a0002c0004t0018g0010 a0001c0002t0010g0008 a0002c0004t0018g0010	2	40	0.0500	100	c.107 others(119): Show c.107-51352_107-51351insTCCTCGGTGGCTGTGACTGTAGCGGA GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGACTGAGGCGGAGCT GTGAGGGTGAAGACGAGGTGGGCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI2_chr17_74269234_74319884	74301850	A A	AGAAGGAA others(93): Show AGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	398	0.0025	100	c.987 others(115): Show c.987+729_987+730insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNMT3A_chr2_25222874_25346925	25300681	T T	TTATATAT others(93): Show TTATATATCTAAATAATATATTATATATATATATATACATATATATATAC ATATATATATATACACATATATATATATATACGTATATATATATATACAT A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0152 a0001c0002t0152	a0001c0002t0152g0233 a0001c0002t0152g0233	1	294	0.0034	100	c.73- others(113): Show c.73-439_73-438insTATGTATATATATATATACGTATATATATATA TATGTGTATATATATATATGTATATATATATGTATATATATATATATAAT ATATTATTTAGATATATA	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	2/22			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224909792	T T	TAACATGC others(93): Show TAACATGCAGTGTTTTTTTTTTTTTTTTTGTTTTTTGTTTTTTGAGACAG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02886.hp1 HG01257.hp1 HG02886.hp1	a0001 a0014 a0001 a0014	a0001c0006 a0014c0019 a0001c0006 a0014c0019	a0001c0006t0004 a0014c0019t0012 a0001c0006t0004 a0014c0019t0012	a0001c0006t0004g0014 a0014c0019t0012g0043 a0001c0006t0004g0014 a0014c0019t0012g0043	2	172	0.0116	100	c.333 others(117): Show c.333+6902_333+6903insGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAACAAAAAACAAAAAA AAAAAAAAAAACACTGCATGTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	3/55			chr2	TogoVar
DOK6_chr18_69395888_69854087	69760697	A A	ATCTAGTA others(93): Show ATCTAGTAGGAGCCTGCCTTTCCCGGGGGCCGGCTGTGACCAATTATTAC TACTCCTGAAATCTTATTGGGAAGCTGCTGATCAGTTTCAGGTGTTTTCT G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp1 others(45): Show HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02083.hp2 HG02155.hp2 HG02280.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03130.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18960.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA19000.hp2 NA19043.hp2 NA19079.hp1 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0042 a0001c0001t0046 a0001c0001t0064 a0001c0001t0072 a0001c0001t0080 a0001c0001t0085 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0052 a0001c0002t0098 a0001c0003t0003 a0001c0003t0006 a0001c0003t0010 a0001c0003t0014 a0001c0003t0016 a0001c0003t0070 a0001c0003t0106 a0001c0005t0102 a0002c0004t0019 a0003c0006t0050	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 others(45): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0002g0115 a0001c0001t0004g0107 a0001c0001t0007g0154 a0001c0001t0008g0151 a0001c0001t0009g0103 a0001c0001t0011g0095 a0001c0001t0012g0144 a0001c0001t0013g0069 a0001c0001t0013g0110 a0001c0001t0020g0032 a0001c0001t0029g0129 a0001c0001t0034g0116 a0001c0001t0035g0136 a0001c0001t0042g0169 a0001c0001t0046g0104 a0001c0001t0064g0096 a0001c0001t0072g0073 a0001c0001t0080g0167 a0001c0001t0085g0127 a0001c0002t0001g0157 a0001c0002t0002g0099 a0001c0002t0002g0106 a0001c0002t0003g0122 a0001c0002t0007g0142 a0001c0002t0007g0158 a0001c0002t0008g0114 a0001c0002t0012g0052 a0001c0002t0052g0098 a0001c0002t0098g0086 a0001c0003t0003g0108 a0001c0003t0006g0152 a0001c0003t0010g0066 a0001c0003t0014g0024 a0001c0003t0016g0123 a0001c0003t0070g0120 a0001c0003t0106g0004 a0001c0005t0102g0085 a0002c0004t0019g0083 a0002c0004t0019g0084 a0003c0006t0050g0135	48	170	0.2824	100	c.856 others(117): Show c.856+2856_856+2857insCTGTGACCAATTATTACTACTCCTGAAA TCTTATTGGGAAGCTGCTGATCAGTTTCAGGTGTTTTCTGTCTAGTAGGA GCCTGCCTTTCCCGGGGGCCGG	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69760930	T T	TTGTGACC others(93): Show TTGTGACCAATTATTACTACTCCTGAAATCTTACTGGGAAGCTGCTGATC AGTTTCAGGTGTTTTCTATCTAGTAGGAGCCTGCCTTTCCCGGGGGCTGG C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0093 a0001c0002t0093	a0001c0002t0093g0009 a0001c0002t0093g0009	1	170	0.0059	100	c.856 others(117): Show c.856+3090_856+3189dupCTGGGAAGCTGCTGATCAGTTTCAGGTG TTTTCTATCTAGTAGGAGCCTGCCTTTCCCGGGGGCTGGCTGTGACCAAT TATTACTACTCCTGAAATCTTA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DPP9_chr19_4670227_4728842	4702841	G G	GGGGAGGG others(93): Show GGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAG AGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAG A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp1 HG01884.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0126 a0001c0001t0003g0127	2	314	0.0064	100	c.770 others(115): Show c.770-126_770-125insTCTCCCTCCCTCTCCCTCCCTCTCCCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCC TCTCCCTCCCTCTCCCTCCC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding	7/21			chr19	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(93): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATACTATATATATAGTA T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	316	0.0032	100	c.355 others(119): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATACTATATATATAGTAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(93): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0050 a0002c0001t0002g0050	1	364	0.0028	100	c.-49 others(111): Show c.-4989_-4988insAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(93): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	364	0.0028	100	c.-49 others(111): Show c.-4989_-4988insAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(93): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0004 a0002c0001t0002g0004	1	364	0.0028	100	c.-49 others(111): Show c.-4989_-4988insAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DYNC2I1_chr7_158851558_158951189	158917466	C C	CGGTGGTT others(93): Show CGGTGGTTGAGATTAAGGATGATGGTGAAACCTCGACATGCTGGTTGACA TTAAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATG G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	274	0.0037	100	c.179 others(119): Show c.1792-1274_1792-1273insGGTGGTTGAGATTAAGGATGATGGTG AAACCTCGACATGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACAC GGTGGTTGAGATTAAGGATGATGG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24			chr7	TogoVar
EFNA5_chr5_107371894_107675937	107476047	T T	TATATATA others(93): Show TATATATATATATACATATATATATATATATATATATATGTATACATATA TATATGTATATATATATATACATATATATATATGTATATATATATGTATA C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0008 a0001c0001t0013g0008	1	190	0.0053	100	c.126 others(119): Show c.126-48539_126-48538insGTATACATATATATATACATATATAT ATATGTATATATATATATACATATATATATGTATACATATATATATATAT ATATATATATGTATATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EHMT1_chr9_137614005_137841127	137780807	T T	TGTGGTGA others(93): Show TGTGGTGATGACGCTGAGATGTGTGGTGATGACGGCATCACTGAGATGTG TGGTGATGACGCCGAGACGTGTGGTGATGACGCCGGGATGTGTGGTGATG A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp1 HG03195.hp1 others(1): Show HG02723.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1	a0002 a0009 a0002 a0009	a0002c0010 a0009c0027 a0002c0010 a0009c0027	a0002c0010t0001 a0009c0027t0001 a0002c0010t0001 a0009c0027t0001	a0002c0010t0001g0126 a0002c0010t0001g0127 a0002c0010t0001g0168 others(1): Show a0002c0010t0001g0126 a0002c0010t0001g0127 a0002c0010t0001g0168 a0009c0027t0001g0125	4	170	0.0235	100	c.227 others(119): Show c.2275+1090_2275+1091insGTGGTGATGACGCTGAGATGTGTGGT GATGACGGCATCACTGAGATGTGTGGTGATGACGCCGAGACGTGTGGTGA TGACGCCGGGATGTGTGGTGATGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26			chr9	TogoVar
EIF4A3_chr17_80129369_80152128	80147047	C C	CTGTGCCG others(93): Show CTGTGCCGCTGCCGACCTCGCTGCCGCTGCCGACCTCGCTGTGCCGCTGC CGACCTCGCTGTGCCGCTGCCGACCTCGCTGTGCCGCTGCCGACCTCGCT G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18946.hp1 NA18998.hp2 NA18946.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0029 a0001c0001t0023g0029	2	420	0.0048	100	c.-87 others(107): Show c.-87_-86insCAGCGAGGTCGGCAGCGGCACAGCGAGGTCGGCAGCGG CACAGCGAGGTCGGCAGCGGCACAGCGAGGTCGGCAGCGGCAGCGAGGTC GGCAGCGGCACA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	87		chr17	TogoVar
EIF4E_chr4_98874276_98934133	98896224	A A	AAAATAAA others(93): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	300	0.0033	100	c.126 others(117): Show c.126-4893_126-4892insAATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	2/6			chr4	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(93): Show TAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG G	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19060.hp2 HG01981.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0194 a0002c0002t0002g0016 a0002c0002t0002g0194	2	362	0.0055	100	c.253 others(117): Show c.253+3292_253+3293insCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(93): Show TAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0307 a0002c0002t0002g0307	1	362	0.0028	100	c.253 others(117): Show c.253+3292_253+3293insCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(93): Show TAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp2 HG01192.hp2 HG01433.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0002 a0004c0006t0004 a0002c0002t0002 a0004c0006t0004	a0002c0002t0002g0251 a0004c0006t0004g0334 a0002c0002t0002g0251 a0004c0006t0004g0334	2	362	0.0055	100	c.253 others(117): Show c.253+3292_253+3293insCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(93): Show TAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG G	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	362	0.0028	100	c.253 others(117): Show c.253+3292_253+3293insCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955558	G G	GCCCCCCG others(93): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0120 a0001c0003t0001g0120	1	362	0.0028	100	c.253 others(117): Show c.253+3277_253+3278insGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGG	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELL2_chr5_95880098_95966851	95927389	A A	ATATATAG others(93): Show ATATATAGACACACACACACACGTGTGTATATATAGACATACACACACGT GTGTATATAGACATACACACACGTGTGTATATAGACATACACACACGTGT G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	314	0.0032	100	c.196 others(117): Show c.196-7845_196-7844insCACACGTGTGTGTATGTCTATATACACA CGTGTGTGTATGTCTATATACACACGTGTGTGTATGTCTATATATACACA CGTGTGTGTGTGTGTCTATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927524	T T	TACACACA others(93): Show TACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATA CACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACATA C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	314	0.0032	100	c.196 others(117): Show c.196-7980_196-7979insGTATGTCTATATACACACGTGTGTGTGT ATGTCTATATACACACGTGTGTGTATGTCTATATACACACGTGTGTGTAT GTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927708	C C	CACACACG others(93): Show CACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACATA CACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	314	0.0032	100	c.196 others(117): Show c.196-8164_196-8163insATGTCTATATACACACGTGTGTGTGTAT GTCTATATACACACGTGTGTGTGTATGTCTATATACACACGTGTGTGTGT ATGTCTATATACACACGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELOVL6_chr4_110040846_110203615	110084136	T T	TATATATG others(93): Show TATATATGATATATATAACATATATATGATATATATGATATATACATGTT ATATATCATATATATCATATATATGATATATATGATATATATTATATATA A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0043 a0001c0001t0034g0043	1	338	0.0030	100	c.221 others(119): Show c.221+21360_221+21361insTTATATATAATATATATCATATATAT CATATATATGATATATATGATATATAACATGTATATATCATATATATCAT ATATATGTTATATATATCATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(93): Show GACTCCTGGGGAGAAACCTAAACCCCTTCCATCTGGAAGGTTTGGAGCTT CCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGGTGGAGTGGAAGGGGCAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0002 a0001c0001t0129g0002	1	352	0.0028	100	c.11 others(113): Show c.11394_*11395insACTCCTGGGGAGAAACCTAAACCCCTTCCATC TGGAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGG TGGAGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
ERAP2_chr5_96871500_96924703	96896864	G G	GTAAGTCA others(93): Show GTAAGTCATATGTTGGGTAACGATAGACTGTTATTTAATCTAGAAAGTAA CAGAATAATTGTGAATGTTTATAAATAGCTATATATTGTCAGTCAACCAT A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(175): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0006 others(6): Show a0000 a0001 a0006 a0007 a0009 a0010 a0011 a0014 a0015	a0000c0010 a0001c0001 a0001c0007 others(10): Show a0000c0010 a0001c0001 a0001c0007 a0001c0011 a0001c0021 a0001c0022 a0006c0008 a0007c0012 a0009c0014 a0010c0015 a0011c0017 a0014c0023 a0015c0018	a0000c0010t0014 a0001c0001t0001 a0001c0001t0008 others(16): Show a0000c0010t0014 a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0007t0001 a0001c0011t0001 a0001c0021t0001 a0001c0022t0001 a0006c0008t0008 a0006c0008t0021 a0007c0012t0001 a0009c0014t0001 a0010c0015t0001 a0011c0017t0001 a0014c0023t0001 a0015c0018t0001	a0000c0010t0014g0026 a0001c0001t0001g0005 a0001c0001t0001g0006 others(151): Show a0000c0010t0014g0026 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0008g0024 a0001c0001t0008g0045 a0001c0001t0008g0197 a0001c0001t0008g0307 a0001c0001t0020g0151 a0001c0001t0023g0216 a0001c0001t0027g0333 a0001c0001t0028g0189 a0001c0007t0001g0031 a0001c0007t0001g0258 a0001c0007t0001g0259 a0001c0007t0001g0260 a0001c0007t0001g0261 a0001c0007t0001g0266 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0296 a0001c0011t0001g0010 a0001c0011t0001g0184 a0001c0021t0001g0214 a0001c0022t0001g0145 a0006c0008t0008g0171 a0006c0008t0008g0172 a0006c0008t0008g0238 a0006c0008t0021g0159 a0007c0012t0001g0152 a0007c0012t0001g0154 a0009c0014t0001g0302 a0010c0015t0001g0144 a0011c0017t0001g0319 a0014c0023t0001g0217 a0015c0018t0001g0210	178	398	0.4472	100	c.150 others(115): Show c.1503+3_1503+102dupAAGTCATATGTTGGGTAACGATAGACTGTT ATTTAATCTAGAAAGTAACAGAATAATTGTGAATGTTTATAAATAGCTAT ATATTGTCAGTCAACCATAT	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018567	T T	TTATATAA others(93): Show TTATATAATATATATTATATAATATATATTATATAATATATATTATATAT TATATAATATATAATATATATTATATAATATATAATATATAATATATATT A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0131 a0003c0004t0001g0131	1	306	0.0033	100	c.534 others(117): Show c.534-2750_534-2749insAATATATATTATATAATATATATTATAT AATATATATTATATATTATATAATATATAATATATATTATATAATATATA ATATATAATATATATTATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018567	T T	TTATATAA others(93): Show TTATATAATATATATTATATAATATATATTATATAATATATATTATATAT TATATAATATATATTATATATTATATAATATATAATATATAATATATATT A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01993.hp2 HG02738.hp2 HG01943.hp2 HG01993.hp2 HG02738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0027 a0003c0004t0001 a0003c0004t0027	a0003c0004t0001g0132 a0003c0004t0001g0141 a0003c0004t0027g0139 a0003c0004t0001g0132 a0003c0004t0001g0141 a0003c0004t0027g0139	3	306	0.0098	100	c.534 others(117): Show c.534-2750_534-2749insAATATATATTATATAATATATATTATAT AATATATATTATATATTATATAATATATATTATATATTATATAATATATA ATATATAATATATATTATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar

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