Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NKD2_chr5_1003802_1043943	1023464	GTTGTCCC others(362): Show GTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCTCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTG CCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTC TTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCCCAGCCCA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	319	0.0031	-369	c.142 others(17): Show c.142-8654_142-8286del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024236	TCAGCCCA others(362): Show TCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCAC CCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAG CCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTC CCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTT CCCACTCTCTGTGGGCATCC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	319	0.0031	-369	c.142 others(17): Show c.142-7887_142-7519del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025423	TCTCAGCC others(362): Show TCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCC GTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCTC AGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTC TTCCCACCCTCTGTGGGTGC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0114 a0001c0005t0011g0114	1	319	0.0031	-369	c.142 others(17): Show c.142-6727_142-6359del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHA4_chr19_48832097_48873617	48834509	TGAGGAAG others(362): Show TGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGG GCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCG AGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGC TGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG AGGTCTGGACTCCTGGGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0048 a0004c0004t0002g0048	1	300	0.0033	-369	c.24 others(11): Show c.2411_*2779del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2587		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	101140	TCTATAGG others(362): Show TCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTG GGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATAT AAAGCCCGGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCA TATAAAGCCCTGGGAAAAGC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01515.hp2 HG01256.hp1 HG01515.hp2	a0003 a0004 a0003 a0004	a0003c0009 a0004c0006 a0003c0009 a0004c0006	a0003c0009t0017 a0004c0006t0002 a0003c0009t0017 a0004c0006t0002	a0003c0009t0017g0093 a0004c0006t0002g0051 a0003c0009t0017g0093 a0004c0006t0002g0051	2	210	0.0095	-369	c.45+ others(15): Show c.45+8867_45+9235del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCA_chr17_66297613_66815743	66799178	ATGGTGGT others(362): Show ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGT GATGGTGGTGGTAGTGACGG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19010.hp1 NA18986.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0094 a0001c0001t0001 a0001c0001t0094	a0001c0001t0001g0003 a0001c0001t0094g0140 a0001c0001t0001g0003 a0001c0001t0094g0140	2	178	0.0112	-369	c.185 others(19): Show c.1855-4644_1855-4276del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123754	AGTTAGGG others(362): Show AGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGG TGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTG GTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCAC GGCGGCGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGG TCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCGTGGTGGTTAGG GTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGT TAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGA CGGTTAGGGTCACGGCGGTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19082.hp1 HG00621.hp2 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0036 a0001c0004t0002g0039 a0001c0004t0002g0036 a0001c0004t0002g0039	2	286	0.0070	-369	c.335 others(19): Show c.335-11480_335-11112del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF213_chr17_80255852_80403794	80355343	GGGAAGAA others(362): Show GGGAAGAAGCGGGGTGAACGGGAATGGGAGCTTACAGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATC GGGGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAA GAAGCGGGGTGACCGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGG ACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAGTGGGAATGGGGG CTTACAGGGGAAGAAGCGGGGTGAGTGGGAATGGGGGCTTACAGGGGAAG AAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAC CGGGAATGGGGGCTTACAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01517.hp2 others(2): Show HG00140.hp1 HG00280.hp2 HG01517.hp2 HG01934.hp2 homoSapiens_chm13v2.hp1	a0016 a0022 a0060 a0016 a0022 a0060	a0016c0014 a0022c0090 a0060c0063 a0016c0014 a0022c0090 a0060c0063	a0016c0014t0017 a0016c0014t0041 a0022c0090t0008 others(1): Show a0016c0014t0017 a0016c0014t0041 a0022c0090t0008 a0060c0063t0017	a0016c0014t0017g0220 a0016c0014t0017g0221 a0016c0014t0041g0222 others(2): Show a0016c0014t0017g0220 a0016c0014t0017g0221 a0016c0014t0041g0222 a0022c0090t0008g0092 a0060c0063t0017g0234	5	292	0.0171	-369	c.108 others(20): Show c.10862+783_10862+1151del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SDHA_chr5_213320_262082	261713	GAGCATTA others(362): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGC TCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAGC ATTACCGTGTGAGCTCCGCCCTCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG TCACAGCATTACCGTGTGAG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	266	0.0038	-369	c.52 others(11): Show c.5294_*5662del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4632		chr5	TogoVar
SEH1L_chr18_12943011_12992531	12979950	GGGCAGAG others(362): Show GGGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGCGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGCGGCTGACCCCCCCACCTCC CTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGTCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC CCCCCACCTCCCTCCCGGTCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCC	G G	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	388	0.0026	-369	c.761 others(17): Show c.761+1061_761+1429del	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SGTA_chr19_2749715_2788273	2772793	ACCGAGGG others(362): Show ACCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGC AGAGGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAAATGGG TGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGC CACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCAGCCACACGGCA GGGACTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCG AGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAG GTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGAC GCGGCCACACGGCAGGGACT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03225.hp2 NA18906.hp2 others(1): Show HG02630.hp2 HG03225.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0008 a0001c0003t0005g0008	4	396	0.0101	-369	c.-23 others(17): Show c.-23-4071_-23-3703del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773402	AGGGACTC others(362): Show AGGGACTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGA GGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGA CGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCAC ACGGCAGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGG ACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGG GCAGAGATGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTG GGTGACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	396	0.0025	-369	c.-23 others(17): Show c.-23-4680_-23-4312del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773613	TCCGAGGG others(362): Show TCCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGC AGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGG TGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGC CACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCA GGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCG AGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGACTCCGAGGGCAGAG ATGGGTGACGCGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGAC GCGGCCACAGGGCAGGGACA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0152 a0001c0004t0003g0152	1	396	0.0025	-369	c.-23 others(17): Show c.-23-4891_-23-4523del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SNX8_chr7_2246770_2319441	2278667	CGCCGGAC others(362): Show CGCCGGACTCACTCACACTACGGAGTCGACGCCGGACTCACTCACACTAC GGAGTCGAAGCCGGACTCACTCACACTACGGAGTCGAAGCCGGACTCACT CACACTACGGAGTCGACGCCGGACTCACTCACACTACGGAGTCGACGCCG GACTCACACTACGGAGTCGACGCCGGACTCACTCACACTACGGAGTCGAC GCCGGACTCACTCACACTACGGAGTCGAAGCCGGACTCACTCACACTACG GAGTCGACGCCGGACTCACTCACACTACGGAGTCGACGCCGGACTCACTC ACACTACGGAGTCGACGCCGGACTCACACTACGGAGTCGACGCCGGACTC ACTCACACTACGGAGTCGAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20805.hp1 HG02965.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0165 a0001c0001t0022g0166 a0001c0001t0022g0165 a0001c0001t0022g0166	2	370	0.0054	-369	c.95- others(13): Show c.95-731_95-363del	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SRRM3_chr7_76196896_76292287	76265819	AATAAATA others(362): Show AATAAATATTTATATATATATATATATATATATATATATATTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT TATTTATATATTTAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02145.hp1 others(11): Show HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02273.hp2 HG02280.hp2 HG02647.hp1 HG02723.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp2 HG03927.hp1 NA19030.hp1 NA19043.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0013 a0001c0001 a0003c0003 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0003c0003t0001 a0007c0013t0001	a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0002g0224 others(11): Show a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0002g0224 a0001c0001t0006g0220 a0001c0001t0007g0221 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0130 a0003c0003t0001g0133 a0007c0013t0001g0073 a0007c0013t0001g0321	14	324	0.0432	-369	c.830 others(15): Show c.830+368_830+736del	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
TAF4_chr20_61969798_62070881	62057603	CCAGCAAG others(362): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTC AGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGAC AATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACAC AGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGC AAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAAT GGGGCTCGGGGGGCCAACCT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0220 a0001c0005t0001g0220	1	314	0.0032	-369	c.136 others(19): Show c.1360+6479_1360+6847del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62058326	CGGGGGGC others(362): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTC AGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGA AGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGG GCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAG GCCACAGACAATGGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02280.hp1 HG02572.hp2 others(4): Show HG01167.hp2 HG02280.hp1 HG02572.hp2 HG02895.hp1 HG02897.hp1 NA18522.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0003t0001g0128 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0004t0001g0183	7	314	0.0223	-369	c.136 others(19): Show c.1360+5756_1360+6124del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
A4GALT_chr22_42687121_42725870	42702644	ACTCTTTA others(361): Show ACTCTTTACCCCCAACTGGCATGGGAGCCCCCTTGCCAGGAAGAGGACAC CTGGACTCACTGGAACTGGGTGGTTTTGGGGAGGGGACGTAGTGGGAGAC AAAGGGTCCGGAGCCTTCGTGCAGATAAGGTGGAACGCCCACCGGGTTCC TTCACTTGCCGAGGACGCACCTGGTGGAGTCAGGCGGTCCTGGCCCAAAT AATGGGGTTGGCAGGTTGTCTTAGCTCAGCCTGACCCCCAGTGAGGGATG CGGGGATTACTCCAGCCAATCCCGGTCCCTGCTCCCCTGTTTAACTTTCA GAAAAGTAAAGGGGCCACAGTGGCACTCAGGCCGGGGTACATCACAGTGT GGTCCGCTGGCCGCAGCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00642.hp2 others(45): Show HG00140.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008 a0004c0005 a0005c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 a0001c0002t0009 a0001c0002t0023 a0002c0003t0001 a0002c0003t0008 a0002c0008t0001 a0004c0005t0010 a0005c0006t0001	a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 others(44): Show a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0323 a0001c0001t0004g0234 a0001c0001t0004g0264 a0001c0001t0004g0268 a0001c0001t0004g0334 a0001c0001t0004g0383 a0001c0001t0025g0392 a0001c0002t0009g0257 a0001c0002t0023g0278 a0002c0003t0001g0085 a0002c0003t0001g0232 a0002c0003t0001g0241 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0249 a0002c0003t0001g0276 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0333 a0002c0003t0001g0335 a0002c0003t0001g0337 a0002c0003t0001g0339 a0002c0003t0001g0340 a0002c0003t0001g0342 a0002c0003t0001g0385 a0002c0003t0001g0386 a0002c0003t0001g0388 a0002c0003t0001g0389 a0002c0003t0001g0391 a0002c0003t0008g0011 a0002c0003t0008g0048 a0002c0008t0001g0212 a0002c0008t0001g0270 a0002c0008t0001g0346 a0002c0008t0001g0382 a0004c0005t0010g0272 a0004c0005t0010g0273 a0004c0005t0010g0274 a0004c0005t0010g0275 a0004c0005t0010g0281 a0005c0006t0001g0005 a0005c0006t0001g0261 a0005c0006t0001g0262 a0005c0006t0001g0395	48	406	0.1182	-368	c.-18 others(19): Show c.-187-7381_-187-7014del	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
ADARB2_chr10_1172313_1742525	1238870	TCCCCTCT others(361): Show TCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCC TCTCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTC CCTCCCGGTGTTTACTCCC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	106	0.0094	-368	c.136 others(19): Show c.1361+2893_1361+3260del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ANGPTL4_chr19_8359155_8379370	8375128	GTAATCCC others(361): Show GTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACTCGG GAGGTGGAGGTTGCGGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGG GTGACAGAGCAAGACTTGATTTCAAAAAAAAAAAAAAAAAAAAAAAGAAT AGGGCTGGGCGCATTGGCTCACACTTGTAACACTAGCACTTTGGGAGGCC AACGAGCGGATCACCCGAGGTCGGGTGATCCCGCTGTATTGCTCTATATA GTGAGATCCCTATATAGGGTCTCACTCTATTGTCCAGGCTGGTCTGGCCT GGCCAATGTGGTGAAACCTCATTTCTACTAAAAATACAAAAATTAGCTGG GCATAGTGATGCGCACCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02145.hp2 others(4): Show HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02809.hp1 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	7	408	0.0172	-368	c.12 others(11): Show c.1243_*1610del	ANGPTL4	ENSG00000167772.12	transcript	ENST00000301455.7	protein_coding		759		chr19	TogoVar
AVL9_chr7_32490489_32593726	32510341	ATTCTGAA others(361): Show ATTCTGAACTGCCCCAGTATGAGGGAAACCATCTCCCCAGGGTAAGATTT GTGAGCCGTCATGTCTGGCTGTGGGAGTCCACAGTCCTGGCACTTCTGAA CTGCCCCAGTATGAGGGAAGCCATCTCTCCAGGGTGAGATTCATGAGCCA TCAGGTCTCGTTGGGAGAATCCACAGTCCTGGCACTTCTGAACTGCCCCA GTATGAGGGAAGCCATCTCTCCAGGGTAAGATTTGTGAGCCGTCAGGTCT GGTTGTAGGAGTCCACAGTCCTGGCACTTCTGAACTGCCCCATTATGAGG GAAACCATCTCCCCAGGGTAAGATTTGTGAGCCGTCAGGTCTGGTTGTGG GAGTCTACAGTCCTGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG02451.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0298 a0001c0001t0058g0300 a0001c0001t0058g0298 a0001c0001t0058g0300	2	330	0.0061	-368	c.93+ others(17): Show c.93+14600_93+14967del	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	61373491	ACGATCTC others(361): Show ACGATCTCGGCTCACTGCAACCTCCACCTCATGGGTTCAAGCGATTCTCA TGCCTCAGCCTCCTCTCCTCAGGCCCTTTCCTGAGTGGCCAGGACTATAG GCGTGTGCCAACATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGG TTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCC CAAAGTGCTGGGATTACAGGCATGAACCACGATGCCCAGCCCCTGTTTAA AGTATTCTTGATGCATCTCTGTTGCAGGAAGTATCTGTTTGCTGCTGTTA ACTTCTTCTTCTTCTTTGTTTTTTTTTTTTTTTTTTTTGCTCTGTCACCC AGACTGGAGTACAGTGGTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	74	0.0135	-368	c.259 others(19): Show c.2593+5041_2593+5408del	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC77_chr12_396644_447642	421677	ACACACAT others(361): Show ACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCT CCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT ACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	432	0.0023	-368	c.413 others(17): Show c.413+3042_413+3409del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar
DLGAP2_chr8_732628_1713476	1235530	ATGTCTAG others(361): Show ATGTCTAGTTCTCTCACATGGCGCCATGTCTAGTTCTCTCACATGGCACC ATGTCTAGTTCTCTCACATGGTGCCGTGTCTACTTCTTTCTCACACATAG CATCATGTCTAGTTCTCTCTCACACAGAGCATCATGTCTAGTTCTCTCAC ATGGCGCCATGTCTAGTTCTCTCACATGGCGCCGTATCTAGTTCTCTCAC ATGGTGCCATATCTAGTTCTCTCTCACGCATAGCATCATGTCTAGTTCTG TCTCACACAGAGCATCGTGTCTAGTTCTCTCACATGGCGCCGTGTCCAGT TCTGTCACATGGCTCCGTGTCTGGTTCTCTCACATGGCGCCGTGTCTAGT TCTCTGCCACATGGCGCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG02922.hp1 others(6): Show HG01891.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03486.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0007 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0022 a0001c0003t0013 others(6): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0013 a0001c0003t0024 a0002c0001t0002 a0002c0001t0005 a0002c0007t0008 a0003c0005t0002 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0013g0007 others(6): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0013g0007 a0001c0003t0024g0003 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0007t0008g0040 a0003c0005t0002g0031 a0004c0008t0016g0029	9	40	0.2250	-368	c.74- others(17): Show c.74-23296_74-22929del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1240686	ATGTCTGG others(361): Show ATGTCTGGTTCTCTCACATGGTGACGTGTCTAGTTCTCTCACATGGCGCC GTGTCTGGTTCTCTCGCATGGCGCCGTGTCTAGTTGTCTCACATGGTGCC GTTTCTAGTTCTTTCACATGGCGCCATGTCTAGTTACCTCTCACATGGTG CCATGTGTAGTTCTCTCTCACACATAGTGTCATGTCTAGTTCTCTCTCAC ACAGAGTATCGTGTCTAGTTCTCTCACATGGCACTGTGTCTAGTTCTCTC ACATGGCGCCGTGTCTAGTTCTCTTACATGGCGCCGTGTCTAGTTCTCTC ACATGGTGCTGTGTCTAGTTCTCTCTCACACATAGCGTCATGTATAGTTC TGTCTCACACAGAGCATCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01891.hp2 others(4): Show HG00639.hp2 HG01361.hp2 HG01891.hp2 HG02895.hp1 HG03516.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 others(1): Show a0001c0002 a0001c0003 a0001c0010 a0001c0011	a0001c0002t0006 a0001c0002t0023 a0001c0003t0001 others(3): Show a0001c0002t0006 a0001c0002t0023 a0001c0003t0001 a0001c0003t0014 a0001c0010t0025 a0001c0011t0015	a0001c0002t0006g0011 a0001c0002t0023g0005 a0001c0003t0001g0026 others(4): Show a0001c0002t0006g0011 a0001c0002t0023g0005 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 a0001c0010t0025g0012 a0001c0011t0015g0002	7	40	0.1750	-368	c.74- others(17): Show c.74-18080_74-17713del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1393013	ACCTCCTT others(361): Show ACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGTG TATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTC	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	-368	c.107 others(21): Show c.107-108161_107-107794del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1398847	TGAGTCGT others(361): Show TGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGTGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTCGTCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp1 HG02698.hp1 others(4): Show HG01071.hp2 HG02071.hp1 HG02698.hp1 HG02818.hp1 HG02895.hp2 HG03710.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 others(1): Show a0001c0002 a0002c0001 a0002c0004 a0002c0007	a0001c0002t0006 a0001c0002t0010 a0001c0002t0027 others(4): Show a0001c0002t0006 a0001c0002t0010 a0001c0002t0027 a0002c0001t0003 a0002c0001t0011 a0002c0004t0026 a0002c0007t0008	a0001c0002t0006g0011 a0001c0002t0010g0008 a0001c0002t0027g0023 others(4): Show a0001c0002t0006g0011 a0001c0002t0010g0008 a0001c0002t0027g0023 a0002c0001t0003g0017 a0002c0001t0011g0001 a0002c0004t0026g0016 a0002c0007t0008g0040	7	40	0.1750	-368	c.107 others(21): Show c.107-102489_107-102122del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1398885	CGTCCTCC others(361): Show CGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTC CTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCC TGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	-368	c.107 others(21): Show c.107-102443_107-102076del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1400048	CGTGTATT others(361): Show CGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGA ACTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTG AGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCATCCTCCAGGGTA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-368	c.107 others(21): Show c.107-101307_107-100940del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ECHS1_chr10_133357485_133378354	133365473	AAACTTGA others(361): Show AAACTTGAGCATTTCTGAGGAGGGGGAGGTTCAGATCCACTTCCCTGGCA GAGGGAGAACTAAAAGGGATCCAGGCCAAGAACGAACAGCGTGGTGCTGG GCTGCAAGCCTGCGTAGCCACCTGCCAGGCGCACACGCAGCCGCCAACCC CAGGTCTCGGGAGGTGAACCGAGCCTCCCCATGGCAGAGACCATTTTACA TTTGGGACCTCTGCTCCCTTCTCAGCCTTTCCCTGCCACTGCCAGCTCTG TACTGCCCTCACCTCCCAGGCCTGGCTCAGTTCTTGGGCCCTGGTACAAA GGGGAGCTGGGAACATCTCAGCGGAGTTCCTGAGTGCGTGACCAGAAACC ACGACTCTACAGACAGCAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0125 a0003c0007t0001g0125	1	354	0.0028	-368	c.739 others(15): Show c.739+135_739+502del	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	6/7			chr10	TogoVar
GAL3ST2_chr2_241771822_241809287	241805655	GACCTCCG others(361): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACC CTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	314	0.0032	-368	c.14 others(11): Show c.1490_*1857del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1369		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805672	CTCCCCCC others(361): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTC CCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 NA18945.hp1 HG01943.hp2 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0001 a0002c0002t0001g0147 a0001c0001t0002g0001 a0002c0002t0001g0147	2	314	0.0064	-368	c.15 others(11): Show c.1507_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1386		chr2	TogoVar
GALR1_chr18_77244848_77282900	77258521	TGTGGTGA others(361): Show TGTGGTGATGGTGGCGATTGTGGTGGTGATGGTGGTGGTCATAGTGGGGG TGGTGGTGGTCATGGTGGTGATGGTGGTGGTCATGGTGGTGATGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGGTGGT CATGGTGGTGATGGTGATGGTGGTGGTGGTCATGTGATGGTGGTGCTGGT GATGGTGGTGATGGTGATGATGGTTATGGTGGTGATGATGGCAATTGTGA TAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTCATAGTGGTG GTGGTGCTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGT GGTGATGATGGTGGTCATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02622.hp1 others(5): Show HG01891.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG03098.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0081 a0001c0002t0050 a0001c0004t0028 others(1): Show a0001c0001t0081 a0001c0002t0050 a0001c0004t0028 a0001c0004t0048	a0001c0001t0081g0152 a0001c0002t0050g0012 a0001c0004t0028g0320 others(4): Show a0001c0001t0081g0152 a0001c0002t0050g0012 a0001c0004t0028g0320 a0001c0004t0028g0321 a0001c0004t0028g0335 a0001c0004t0048g0322 a0001c0004t0048g0325	8	366	0.0219	-368	c.732 others(17): Show c.732+2312_732+2679del	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
HSD17B14_chr19_48808018_48841491	48834934	AGCCTGGA others(361): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGATGGGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG02273.hp1 others(5): Show HG00621.hp1 HG00673.hp2 HG02273.hp1 HG04184.hp1 NA18954.hp1 NA19066.hp1 NA19068.hp2 NA19080.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 others(5): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0007c0008t0001g0242	8	394	0.0203	-368	c.127 others(15): Show c.127+503_128-577del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835029	GAAGTAGG others(361): Show GAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTG GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAA GTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGA GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGATGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTC TGGACTCCTGGGTCTGAGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	394	0.0025	-368	c.127 others(15): Show c.127+408_128-672del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
LRRC27_chr10_132327193_132386508	132358676	CAGTGTGG others(361): Show CAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGG TGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGG AGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAA GGAGCCGAGCTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGCAG TGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGG TAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCCGA GGTGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGA GCCGAGGTGATGGAGCAGT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0074 a0001c0001t0053g0074	1	290	0.0035	-368	c.117 others(19): Show c.1171-2780_1171-2413del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10			chr10	TogoVar
MACROD2_chr20_13990516_16058197	15731372	TGATGCCC others(361): Show TGATGCCCTTGGGGGTTTGATTGTGGTATAAGGTGAGTTCAGTCAACTGG GTTGATTTCTGGAAGATTTTAAGGGGCCAAGGCTCAGCTCAGCATTCCTG GTCTGAGTGCTTTAACTCTGGGGGGCTGGTACCAGGTCCCCACACTTGTT CTCTGGCACCTTGAGGTTAGAAACCAGCTGCACTAGAAAGGCCAACGTGT TTCCAGTCCACTGGCTACAACATTCCTGTGGGAGGTACTGACCAAAGCAC TTCACTGGGGCAGTGGCAGTGGGATCCATGCTCACTTACACATGCTAGGA GCCATGGCATTGCAGAGAGGTGCACATGCGTCGCCTGGGGCAGGATACTG GCAGAAACGAGTTTGCAGC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp1 NA19030.hp2 others(1): Show HG03209.hp2 HG03486.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0002c0002t0010	a0001c0001t0003g0001 a0001c0001t0004g0016 a0001c0001t0011g0009 others(1): Show a0001c0001t0003g0001 a0001c0001t0004g0016 a0001c0001t0011g0009 a0002c0002t0010g0007	4	24	0.1667	-368	c.646 others(21): Show c.646-131372_646-131005del	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17			chr20	TogoVar
MGAM_chr7_141990879_142111747	142042905	CTATATTA others(361): Show CTATATTATATATACATATAATATCTAAATATAATATATATATTATATAT ACATATAATATCTAAATATAATATATATATTATATATACATATAATATCT AAATATAATATATATAAAATATAAACATAATATCTAAATATAATATCTAT ATTATATATACATATAATATCTAAATATAATATATATATTATATATACAT ATAATATCTAAATATAATATATATATTATATATACATATAATATCTAAAT ATAATATCTATATTATATATACATATAATATCTAAATATAATATATATAT TATATATACATATAATATCTAAATATAATATATATATTATATATACATAT AATATCTAAATATAATATA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0047 a0047	a0047c0088 a0047c0088	a0047c0088t0001 a0047c0088t0001	a0047c0088t0001g0145 a0047c0088t0001g0145	1	316	0.0032	-368	c.249 others(19): Show c.2498+2133_2498+2500del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MYOM2_chr8_2040046_2150456	2085484	CGTGGCCC others(361): Show CGTGGCCCCTCACTGTTGTGATCTCCGCGTGGCCCCCCACTGTTGTGATC TCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATC TCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGT GATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTG TTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCT ACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCC CCACTGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0007 a0007	a0007c0089 a0007c0089	a0007c0089t0001 a0007c0089t0001	a0007c0089t0001g0226 a0007c0089t0001g0226	1	403	0.0025	-368	c.164 others(17): Show c.1644+103_1644+470del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085538	CGTGGCCC others(361): Show CGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATC TCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTG TCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCAC TGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02486.hp1 NA19074.hp2 HG02040.hp2 HG02486.hp1 NA19074.hp2	a0002 a0003 a0054 a0002 a0003 a0054	a0002c0025 a0003c0001 a0054c0179 a0002c0025 a0003c0001 a0054c0179	a0002c0025t0001 a0003c0001t0002 a0054c0179t0001 a0002c0025t0001 a0003c0001t0002 a0054c0179t0001	a0002c0025t0001g0189 a0003c0001t0002g0265 a0054c0179t0001g0082 a0002c0025t0001g0189 a0003c0001t0002g0265 a0054c0179t0001g0082	3	403	0.0074	-368	c.164 others(17): Show c.1644+157_1644+524del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241805655	GACCTCCG others(361): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACC CTCCCCCCTCAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0113 a0001c0004t0001g0113	1	319	0.0031	-368	c.-36 others(11): Show c.-3622_-3255del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3537		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805672	CTCCCCCC others(361): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTC CCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp2 HG03486.hp1 others(1): Show HG01943.hp1 HG01943.hp2 HG03486.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0001t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0008g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0008g0001 a0001c0002t0001g0119	4	319	0.0125	-368	c.-36 others(11): Show c.-3605_-3238del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3520		chr2	TogoVar
NKD2_chr5_1003802_1043943	1023406	TGTGGGCG others(361): Show TGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCG TTGTCTCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCA GCCCATTGCCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGT CCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18980.hp2 HG03942.hp2 NA18980.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0001 a0006c0015t0001 a0001c0001t0001 a0006c0015t0001	a0001c0001t0001g0235 a0006c0015t0001g0231 a0001c0001t0001g0235 a0006c0015t0001g0231	2	319	0.0063	-368	c.142 others(17): Show c.142-8745_142-8378del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
PKP3_chr11_389209_409908	401184	CCCCGCTC others(361): Show CCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACACCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACC CGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACACCCGCCCCGCTCACAC CCGCCCCGCTCACCCCCGG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp1 NA18522.hp2 others(1): Show HG03209.hp1 HG03486.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0004t0001g0180 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0004t0001g0180 a0001c0004t0001g0197	4	216	0.0185	-368	c.173 others(17): Show c.1737+489_1737+856del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402506	GGCTCCAC others(361): Show GGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACC CCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCC GACCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTCACC CCCGACCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTC ACCCCCGCCCCGCTCACCCCTGCCCCGCTCACCCCGGGCCCCGCTCACCC CCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCC CGGGACCCGCTCACCCCGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18906.hp1 NA19240.hp1 others(2): Show HG03471.hp1 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0008 a0003c0014 a0001c0004 a0001c0008 a0003c0014	a0001c0004t0001 a0001c0008t0001 a0003c0014t0001 a0001c0004t0001 a0001c0008t0001 a0003c0014t0001	a0001c0004t0001g0008 a0001c0004t0001g0194 a0001c0008t0001g0195 others(2): Show a0001c0004t0001g0008 a0001c0004t0001g0194 a0001c0008t0001g0195 a0003c0014t0001g0184 a0003c0014t0001g0187	5	216	0.0232	-368	c.173 others(17): Show c.1738-571_1738-204del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEK2_chr14_67381984_67417165	67413695	TGCGTGCC others(361): Show TGCGTGCCAGCCCAATGGCCCACTCTAGCCTTCTGCACTAACTGGCCTTC AGACTTCCCAGGAAGCCCCAAAGCAGTGGGGCTTCCATTCCAATTCAGAA TGAACATCAGCTGGTCACCTTCTGAAGCCAGGCCTGTAGTAGTAGGTGCT AGGTTTTATCTAAAGTACAACAACCCCATGAGGTGTTTATTATGTCATTT TCCAGTCAAGGAAACTGAATCCAAGTAGTTAAATAACTTGCCCAAGGTTA TGCAGCTCCAGGGCATTGCAAATACTCTTGCCTCCTAAGGAATTGTCCCA GCTCTGAAACCTAGCTGGGCTGAAAGCCAGGACTTGAGAGGTTGAGCTGG GAAGTTCTCATCCTCTTCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	354	0.0028	-368	c.-20 others(11): Show c.-2004_-1637del	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding		1531		chr14	TogoVar
PLEKHA4_chr19_48832097_48873617	48834934	AGCCTGGA others(361): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGATGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG04184.hp2 others(2): Show HG00621.hp2 HG00673.hp2 HG04184.hp2 NA18954.hp2 NA19068.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0013	a0001c0001 a0002c0002 a0009c0014 others(1): Show a0001c0001 a0002c0002 a0009c0014 a0013c0017	a0001c0001t0001 a0002c0002t0003 a0009c0014t0001 others(1): Show a0001c0001t0001 a0002c0002t0003 a0009c0014t0001 a0013c0017t0001	a0001c0001t0001g0138 a0002c0002t0003g0244 a0009c0014t0001g0178 others(2): Show a0001c0001t0001g0138 a0002c0002t0003g0244 a0009c0014t0001g0178 a0009c0014t0001g0179 a0013c0017t0001g0215	5	300	0.0167	-368	c.19 others(11): Show c.1987_*2354del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2162		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835029	GAAGTAGG others(361): Show GAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTG GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAA GTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGA GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGATGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTC TGGACTCCTGGGTCTGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0003 a0002c0023t0003	a0002c0023t0003g0242 a0002c0023t0003g0242	1	300	0.0033	-368	c.18 others(11): Show c.1892_*2259del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2067		chr19	TogoVar
RASA3_chr13_113972783_114137623	114005904	CGGACGCC others(361): Show CGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGATGCCACCT TACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCT CCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCG GACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCCCCACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCTCC TGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACG CCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCT TCTCCCCTCCTGCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0042 a0001c0011t0001g0042	1	67	0.0149	-368	c.174 others(19): Show c.1742+1261_1742+1628del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
ROBO2_chr3_77035099_77654964	77295108	AGGTAAGC others(361): Show AGGTAAGCTGAGGCTAGGTCACCCCAGATATAAAGTAAAATTGACGGTTA AACGGGTAAGCTGAGGCTAGATCACTAAAGACATAAAGTAAAATTGACGA TTAAACGGTAAGCTGAGGCTAGATCACCAAAGACATAAAGTAAAATTGAC GATTAAACGGTAAGCTGAGGCTAGATCACCAAAGACATTAAGTAAAATTG ACGGCTAAACGGGTAAGCTGAGGCTAGATCACCAAAGACATAAAGTAAAA TTGATGGTTAAATGGGTAAGCTGAGGCTAGAGCACTAAAGACATAAAGTA AAATTGATGGTTAAATGGGAAGTTGAGGCTAGAACAGTAAAGACATAAAG TAAAATTGACGGTTAAATG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp1 HG03139.hp2 others(2): Show HG02486.hp2 HG03139.hp1 HG03139.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0002t0002 a0001c0002t0015 others(1): Show a0001c0001t0005 a0001c0002t0002 a0001c0002t0015 a0001c0003t0019	a0001c0001t0005g0051 a0001c0002t0002g0002 a0001c0002t0015g0012 others(2): Show a0001c0001t0005g0051 a0001c0002t0002g0002 a0001c0002t0015g0012 a0001c0002t0015g0013 a0001c0003t0019g0111	5	160	0.0313	-368	c.389 others(21): Show c.389-182289_389-181922del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)