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
C1R_chr12_7075219_7097445	7083650	GNNNNNNN others(615): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNN	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00544.hp2 others(40): Show HG00323.hp2 HG00544.hp1 HG00544.hp2 HG01081.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02083.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02280.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03834.hp1 NA18949.hp2 NA18953.hp2 NA18964.hp2 NA18978.hp1 NA18999.hp2 NA19012.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0003c0010 a0004c0004	a0001c0001t0001 a0001c0005t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0005t0002 a0002c0002t0001 a0003c0003t0001 a0003c0010t0001 a0004c0004t0001	a0001c0001t0001g0018 a0001c0001t0001g0069 a0001c0001t0001g0100 others(36): Show a0001c0001t0001g0018 a0001c0001t0001g0069 a0001c0001t0001g0100 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0180 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0005t0002g0140 a0001c0005t0002g0191 a0002c0002t0001g0029 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0225 a0003c0003t0001g0046 a0003c0003t0001g0085 a0003c0003t0001g0110 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0195 a0003c0003t0001g0224 a0003c0010t0001g0027 a0004c0004t0001g0076 a0004c0004t0001g0103 a0004c0004t0001g0105 a0004c0004t0001g0106 a0004c0004t0001g0168 a0004c0004t0001g0232	43	320	0.1344	-622	c.127 others(19): Show c.1273+1589_1274-1545del	C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10			chr12	TogoVar
DPH7_chr9_137549444_137583925	137567336	TGGGTGAC others(615): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCC CCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp1 NA20129.hp1 HG03139.hp2 HG03486.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0189 a0001c0001t0001g0005 a0001c0001t0001g0189	3	340	0.0088	-622	c.641 others(17): Show c.641-2804_641-2183del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567402	TCTGTCTG others(615): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTC CGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18984.hp2 NA19083.hp2 NA18980.hp2 NA18984.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0156 a0001c0001t0001g0215 a0001c0001t0001g0216	3	340	0.0088	-622	c.641 others(17): Show c.641-2870_641-2249del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GRTP1_chr13_113319163_113369130	113347260	GGCTGAGA others(615): Show GGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGG ACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAG ATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGG CTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGG ATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGTGGCCGAGAGCGG ACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTCTGTGGCA GAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGAC CTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGATCT GGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGA GAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCT CTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGG GAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGA ACAGATCCGGGAGGACCTCTGAA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19088.hp1 NA18946.hp2 NA19088.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0008 a0001c0001 a0012c0008	a0001c0001t0001 a0012c0008t0001 a0001c0001t0001 a0012c0008t0001	a0001c0001t0001g0096 a0012c0008t0001g0054 a0001c0001t0001g0096 a0012c0008t0001g0054	2	288	0.0069	-622	c.466 others(17): Show c.466-2923_466-2302del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HS6ST2_chrX_132621015_132963629	132779678	GCCACGTC others(615): Show GCCACGTCCAGAACACATAATAATGATGAAAAATCAGCATTTCTTGAACC TTTACCATGTGCCTGGTCTGTGCTAAGTAGTTCACAGGAATAAATTCCCC TGTTCCTCCCAATAACCCTATAAGGTTGGTACCCTTACTATTGCCAGTTT ACAGATAAGGAAACTGAGACTCAGAGAGATAGTGGATAGCCCAAACCCAC ACAGCTAGCAAGTGGCACAGTCGTAATTCTAACCCAGTAGGTCTGCCGCC TGAGTCCCTAGCTCCAGCTCCACCCACTGTCAGTCACCCACCTTCACTCA CATCCCTTCTCCAGATGGTCCTCCACATCTGTGAGCTGCATTTCTCACAG GAGTGGATGAAGCTGCCCTTACGGGGGAGGCATCAGAAACCACCGTGCAC ATGCAAGATCAGCTACATGGAATACATGTTGAGCCCATCTCTGATTTGCA CAGGAGCCAAGCTTCACTGACTTTGTTCAGTCTCCATATGGCCAGCCCTT TACACATCAAGAGTTCTGGTACCTGGCTGCCATCTCCCTCCCTGTGTTTA AGATAAATTTTTCCTCCTTTGCCTCCCAAAGGATTGTGACCTTTTCATCA TCCAAATAATTTTTAGACCTACC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20300.hp2 HG02622.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0002 a0001c0001t0001 a0001c0009t0002	a0001c0001t0001g0026 a0001c0009t0002g0198 a0001c0001t0001g0026 a0001c0009t0002g0198	2	201	0.0100	-622	c.948 others(19): Show c.948-71806_948-71185del	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
LMF1_chr16_848634_975984	953362	CGGACCCC others(615): Show CGGACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAAC CAGCCTCCTACACGTTCACACAGACACGGACCCCACACCAGCCTCCTACA CGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGA CACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCT CCTACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACA GACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAAC CAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACA TGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGA CACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAA ACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTA CACGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACA CCCACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAAC CAGCCTCCTACATGTCCACACAG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	294	0.0034	-622	c.503 others(15): Show c.503+373_503+994del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953364	GACCCCAA others(615): Show GACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCA GCCTCCTACACGTTCACACAGACACGGACCCCACACCAGCCTCCTACACG TCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACA CCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCC TACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGA CACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCA GCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATG TCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACA CCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAAC CAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACA CGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACC CACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCA GCCTCCTACATGTCCACACAGAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02027.hp2 HG02056.hp1 others(3): Show HG00544.hp1 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02135.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0123 a0001c0001t0001g0189 a0001c0001t0001g0190 others(3): Show a0001c0001t0001g0123 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0018t0001g0152	6	294	0.0204	-622	c.503 others(15): Show c.503+371_503+992del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
METTL16_chr17_2411049_2516888	2429279	CCCGGGTT others(615): Show CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGATGGGACTA CAGGCGTGTATCATCACACCCGACTAAATTTGTATTTTTAATAGAGACGG GGATTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCAAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTG TGCTCGGCCAAGAATCAAACATTTATCCGGCTTTACTAGATGAACTGTAC TTCAAAGTTACTAATAACTAATAGGAGAAGTTTCCTTTCATAGAAGTACC TCAGCTAATAAATGAAGGGACGAATAGAATTGGAATATCATTATTTGCAA CTCTAAATGAATTAATGGATCTAGGCAATGATCATCAATGACTGCTCACA TCATGAAGACACAATCTAACATGTGCCTCCATACGATAGTATATACCACA TACCACCTGCAAAGTATTCTTGCTCCCCCTCCCCAATCAAAAAAAAAGAA CAATCAACCCTGTATCTGATCAAGCTGCTGCTGCTTCTTTTTTTTTTTCT GAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCT CAGCTCACAGCAACCTCTGCCTA	C C	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0111 a0001c0001t0041g0111	1	298	0.0034	-622	c.888 others(17): Show c.888+8208_889-8376del	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	8/9			chr17	TogoVar
PTPRH_chr19_55176247_55214501	55208050	TTGGGGGC others(615): Show TTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAG GGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGG GGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAG GAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG TCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAG TCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGTCTGGACTCCTGGGCCTGAAGGAGGAGGGACTGGGGGTCTG GACCCCTGAGTCTGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTGAGTCT GAGGGAGGAGGGGTTGGGGGCCTGGACTCTTGGTTTGAGGGAGGAAGGGC TGGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACT CCTGGGTCTGAGGGAGGAGGGGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0121 a0002c0028t0001g0121	1	378	0.0027	-622	c.51+ others(13): Show c.51+711_52-852del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
SMOC2_chr6_168436184_168672992	168560622	GCATTCTT others(615): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCAC	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	180	0.0056	-622	c.637 others(19): Show c.637+11420_637+12041del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMYD3_chr1_245744347_246512279	246388631	AGGGGACC others(615): Show AGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTC ATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTG TAGAAAGCATTCATTCTTGAAAAATCACCTCGAGGTTGAAGTCAGTTTCT GGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTG AAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATC ACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCA TTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGT AGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGG GGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAA GTCAGTTTCTAGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCA CCTCGAGGTTGAAGTCAGTTTCT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0091 a0001c0014t0002g0091	1	150	0.0067	-622	c.165 others(19): Show c.165-34159_165-33538del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
TNK2_chr3_195858364_195913551	195874757	TCCCCTCG others(615): Show TCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCT CGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGAT GGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGC ACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTC CGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCGGAGG CACAGGAAGCTCCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAA GAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCT CCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGAT GGCGCCCACGCACGCTCCGAGGCACACGAAGCTCCCCTCGGGATGGCGCC CACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACAAGAAACTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0185	1	372	0.0027	-622	c.125 others(19): Show c.1256+2874_1257-2288del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
CACNG6_chr19_53986637_54017666	53990459	CCCCCTGC others(614): Show CCCCCTGCCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCC TCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCA GGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCC CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTC CTTCAGACCCAGGAGTTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAA GTCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTC AGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCC CAGGCCCCCAACCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCTTCAG ACCCAGGAGTTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCAG GCCCCAGTCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0071 a0001c0001t0015g0071	1	430	0.0023	-621	c.-24 others(11): Show c.-2418_-1798del	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1177		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990459	CCCCCTGC others(614): Show CCCCCTGCCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCC TCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCA GGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCC CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTC CTTCAGACCCAGGAGTTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAA GTCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTC AGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCC CAGGCCCCCAACCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCTTCAG ACCCAGGAGTTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCAG GCCCCAGTCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0092 a0001c0001t0104g0092	1	394	0.0025	-621	c.76 others(11): Show c.7611_*8231del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		245		chr19	TogoVar
GALNT9_chr12_132191372_132334589	132231777	CCCCTAGT others(614): Show CCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGTGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0005 a0005c0023t0005	a0005c0023t0005g0028 a0005c0023t0005g0028	1	183	0.0055	-621	c.107 others(21): Show c.1077+15512_1077+16132del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234544	AGACAGTG others(614): Show AGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCC ACACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	183	0.0055	-621	c.107 others(21): Show c.1077+12745_1077+13365del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
PPP1R8_chr1_27825782_27856676	27853744	TGGGGGGG others(614): Show TGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCAGCCCCACGCCCGGCCAG CCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCAGCCAGC CGCCCCGTCCGGGAGGGAGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(54): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01069.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18943.hp2 NA18946.hp1 NA18952.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp1 NA19081.hp2 NA19090.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0006t0001 a0002c0002t0003	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(32): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0050 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0003g0092 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0006t0001g0098 a0002c0002t0003g0015 a0002c0002t0003g0113	57	340	0.1677	-621	c.32 others(11): Show c.3299_*3919del	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		2069		chr1	TogoVar
SIGIRR_chr11_400716_419999	401830	CGGCTCCA others(614): Show CGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGA CCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCC CGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGG CCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCC CGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCG GCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCAC CCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCA GACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCAC CCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCA CTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGC CCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCC CGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTC ACCCCCGGCTCCACTGACCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	242	0.0041	-621	c.34 others(11): Show c.3445_*4065del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3885		chr11	TogoVar
TNK2_chr3_195858364_195913551	195874662	AGAAGCTC others(614): Show AGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAAC TCTCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCC TCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGA TGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACG CACGCTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACT CCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGG CACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCGGAGGCACAG GAAGCTCCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGC TCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGA TGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	372	0.0027	-621	c.125 others(19): Show c.1257-2813_1257-2193del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
AHRR_chr5_316714_443285	357716	CGAGTGGA others(613): Show CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGA AGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAG TGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAG AGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGAGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	268	0.0037	-620	c.244 others(17): Show c.244+3853_244+4472del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357840	CGAGTGGA others(613): Show CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGT CCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAG TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTCAG CGACTGGGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp1 HG02451.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0256 a0002c0002t0001g0255 a0001c0001t0001g0256 a0002c0002t0001g0255	2	268	0.0075	-620	c.244 others(17): Show c.244+3991_244+4610del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639071	GGGTGACG others(613): Show GGGTGACGCGGAGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATG TTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGT TGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGG GTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGG CGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGC GGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTT AGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTG CGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGGCGGT GACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCG ATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGG GGTTGCGCGGCGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02896.hp2 others(4): Show HG02055.hp2 HG02486.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03195.hp1 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0006 a0003c0008t0010 a0001c0001t0001 a0001c0001t0006 a0003c0008t0010	a0001c0001t0001g0076 a0001c0001t0006g0024 a0003c0008t0010g0074 others(4): Show a0001c0001t0001g0076 a0001c0001t0006g0024 a0003c0008t0010g0074 a0003c0008t0010g0075 a0003c0008t0010g0292 a0003c0008t0010g0323 a0003c0008t0010g0324	7	324	0.0216	-620	c.637 others(16): Show c.637+933_637+1552del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639195	CGGTGACG others(613): Show CGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGC GGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATG TTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGT TGCGCGGCGATGTTAGCGGGTGACGCGGGGTTGCGCGGCGATGTTAGGCG GTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGG CGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGT GGAGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTT AGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTG CGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGT GACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCG ATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGG AGTTGCGCGGCGATGTTAGCG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0015 a0002c0010t0015	a0002c0010t0015g0026 a0002c0010t0015g0026	1	324	0.0031	-620	c.637 others(17): Show c.637+1035_637+1654del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYP4F11_chr19_15907377_15939529	15933265	GAGAGGAA others(613): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG CAGAGGAATGAGTGAGCGAGA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0200 a0001c0002t0048g0200	1	386	0.0026	-620	c.198 others(15): Show c.198+326_198+945del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933303	AGGAGAGG others(613): Show AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGCAGAGGAATGAGTGAGCGAGAAGAGGAATGAGTGAGTG GGCAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0151 a0003c0003t0151	a0003c0003t0151g0072 a0003c0003t0151g0072	1	386	0.0026	-620	c.198 others(15): Show c.198+288_198+907del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DOC2B_chr17_137789_186650	171238	GGAGAGCA others(613): Show GGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCGGCACCAGGGGCCG GGCCAGGTTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGG AGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCC AGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAG GCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCA CCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGC TGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACC AGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTG CAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGG GCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCA GAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGC CGGGCCAGGCTGCAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0078 a0001c0002t0038g0078	1	339	0.0030	-620	c.453 others(16): Show c.453+679_453+1298del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DPH7_chr9_137549444_137583925	137567136	ACTCTGTC others(613): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCC CCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	340	0.0029	-620	c.641 others(17): Show c.641-2602_641-1983del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1328824	AGGAGCAT others(613): Show AGGAGCATCTAATTCAGTGTTAGACACGGTTCTACGTGTTAGCAGTATCA TCTGGAATAAGACAGCCTCTGTTCTTGGGGAGGGAGGGTCCTTGTCTTTT TCATTCTTGGAACTTTTTAGAGGTGATTTGACAAATAAATAAATGTCTAT TTAAAAGTTACTAAAAAAAAAAAAAAAAAAGCCTTAGCGACCAGGCACGG TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATC ACTTGAGGTCAGGATTTTGAGACCAACCTGGCCAACATAGTGAAACCCCA TCTCTACTAAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTGTA ATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCCAGAG GCGGAGGTTGGAGTGAGCCAAGATCACGCCACTGCACTTCAGCTTGGGCG ACAGAGCAAGACTCTGAATCAAAAAAAAAAAAAAGAAAGAAAAGTCTTAG AAAAGGTTTTTTTTTTCTAAATTTTTCAATATAGATTCATCTAATAATCT CAAAATAATTTTATAATAGCCTAAATAAAATCAACTACACACGTATTAAT AATGACCTTCTATCCCTATTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00544.hp1 others(23): Show HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00639.hp1 HG01257.hp1 HG01261.hp1 HG01952.hp2 HG02055.hp2 HG02145.hp2 HG02572.hp2 HG02615.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03654.hp2 NA18612.hp2 NA18949.hp1 NA18966.hp2 NA18982.hp2 NA19030.hp1 NA19043.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 others(20): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0034 a0001c0001t0057 a0001c0001t0058 a0001c0001t0068 a0001c0001t0106 a0001c0001t0119 a0001c0001t0120 a0001c0001t0124 a0001c0001t0132 a0002c0002t0002 a0002c0002t0005 a0002c0002t0042 a0002c0002t0076 a0002c0002t0089 a0009c0008t0041	a0001c0001t0011g0034 a0001c0001t0013g0015 a0001c0001t0019g0120 others(23): Show a0001c0001t0011g0034 a0001c0001t0013g0015 a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0031g0118 a0001c0001t0034g0161 a0001c0001t0057g0156 a0001c0001t0058g0141 a0001c0001t0068g0083 a0001c0001t0106g0003 a0001c0001t0119g0061 a0001c0001t0120g0024 a0001c0001t0124g0050 a0001c0001t0132g0103 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0005g0133 a0002c0002t0042g0079 a0002c0002t0076g0146 a0002c0002t0089g0037 a0009c0008t0041g0140	26	162	0.1605	-620	c.278 others(21): Show c.2780+38815_2780+39434del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241806995	CCCCTCAG others(613): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGG GACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCTTCCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	314	0.0032	-620	c.28 others(11): Show c.2830_*3449del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2709		chr2	TogoVar
LMLN_chr3_197955217_198048720	198004353	CCATCTAT others(613): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp1 HG02717.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0032 a0001c0001t0010 a0001c0001t0032	a0001c0001t0010g0004 a0001c0001t0032g0005 a0001c0001t0010g0004 a0001c0001t0032g0005	2	258	0.0078	-620	c.131 others(19): Show c.1319+1332_1319+1951del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004457	CCATCTAT others(613): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	258	0.0039	-620	c.131 others(19): Show c.1319+1384_1319+2003del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004509	CCATCTAT others(613): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTG ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18941.hp1 NA18943.hp1 others(4): Show HG00544.hp2 NA18941.hp1 NA18943.hp1 NA18968.hp2 NA18970.hp1 NA19007.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0004g0140 others(4): Show a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0004g0140 a0001c0001t0004g0239 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244	7	258	0.0271	-620	c.131 others(19): Show c.1319+1444_1319+2063del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
OR1C1_chr1_247749846_247765556	247762143	GCCTGTAA others(613): Show GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAAATTACAAGGTC AGGAGATCGAGACCGTCCCGGCCGACACGGTGAAACATAGACCTACGTTT GCGTGCTCTATTTGTGCATGTTAAACCTTATAAAAATACCCAGGTAATAG TTGCTTACATTCAAGAAGACAAAATATATTTGTGTCACTGCCAAACAAAA TTTGATTTACTTTAACTCGTGCCTATGAAGAGATGGGGTGAATGGTAAGC TTCATGTTAATAATTTGACATCCAAGCAAAACTCCACTTTTGACTAATTT CTATCTAATAGATGTGTGTGTGTGTGTGTGTGTGTGTGTGTAATGGCAAA GGTCAGAGGGGGACCGAAGGAGACAATGTGTGGTGGGTCTGGTGATAGAA TCACAATTAATAACTGTTTATGGATGGGGAATGCCTGGGGTAGCCATGAG CTGTCCACAGGCACTGCAGTAAGGATGTTGGAATAGCACACCTATACTAT ATTAAATTTATACCATAATAATAGACAAATTCAGTAAAGTTATAGAATAC AAAATCAACAAACAAATATCAGTAGTATTTTTATACATAAATAATGACCT GTCCGGGAGCAGTGGCTCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA19089.hp2 NA18966.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	444	0.0045	-620	c.-23 others(11): Show c.-2365_-1746del	OR1C1	ENSG00000221888.4	transcript	ENST00000641256.1	protein_coding		1588		chr1	TogoVar
PCMT1_chr6_149744741_149816419	149759123	GCTCGGCC others(613): Show GCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCATGTTGTGAATTTAAAACTAATTCCTTTCACATTTTTTCAGTACAGAA AGTACCTGGGAGTGTCTCAGCCTCTACTTAGCATCTATCATGCCTAATCA TTCTGAATGGGAAGAAAAAGGTGAAAGTTTTGTTAATTTCTTATTGTTTT TCCAGACATGTTGATAGCAGAGAAGAAATGTGGGGTAGATGGTTAACAGC TATCCAAGTCTTATAAACTAATATAATAAGGTAATATTTCTTTTATTTAG ATGTAACCTTGTAACAAGCTTAGAAAGTTTCTATATGACTTGAAATCTAT CTGCAGCTTATTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGATGGAGTT TTGTTCTTGTTGCCCGGGCTGGAGTGCAATGGCGGGATCTCAGCTCACTG CAACCTCCGCCTCCCTTGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAG TAGCAGAGATTACGGGCACCTGCCACCACATCTGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCT GACCTCAGGTGATCCACCCAC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02040.hp1 NA18942.hp2 others(1): Show HG01358.hp1 HG02040.hp1 NA18942.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0096 a0002c0002t0002g0097 others(1): Show a0002c0002t0002g0094 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0101	4	334	0.0120	-620	c.55+ others(15): Show c.55+9208_55+9827del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R8_chr1_27825782_27856676	27853583	GTCCGGGA others(613): Show GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCTGT CCAGGAGGGAGGTGGGGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGG GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGG AGTTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0116 a0001c0001t0009g0116	1	340	0.0029	-620	c.31 others(11): Show c.3138_*3757del	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		1908		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853728	TCGTCCGG others(613): Show TCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCT CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGT CTGGGAGTTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCAG CCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCACCCAGCCAGCCGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01981.hp2 NA18954.hp1 HG00140.hp1 HG01981.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0158 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0158	3	340	0.0088	-620	c.32 others(11): Show c.3283_*3902del	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		2053		chr1	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(613): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp1 NA18972.hp2 HG02451.hp2 HG03486.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0002 a0001c0002t0022 a0001c0001t0012 a0001c0002t0002 a0001c0002t0022	a0001c0001t0012g0330 a0001c0002t0002g0152 a0001c0002t0022g0208 a0001c0001t0012g0330 a0001c0002t0002g0152 a0001c0002t0022g0208	3	340	0.0088	-620	c.915 others(17): Show c.915+1169_915+1788del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(613): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19056.hp2 HG01175.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0021 a0001c0001t0001 a0001c0002t0021	a0001c0001t0001g0265 a0001c0002t0021g0061 a0001c0001t0001g0265 a0001c0002t0021g0061	2	340	0.0059	-620	c.915 others(17): Show c.915+2933_915+3552del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092590	CGCGCCTA others(613): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp1 others(43): Show HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG01358.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02129.hp1 HG02135.hp2 HG02273.hp2 HG02698.hp2 HG03017.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18955.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA19009.hp2 NA19011.hp2 NA19060.hp1 NA19064.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0001g0078 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0159 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0220 a0001c0001t0001g0243 a0001c0001t0001g0252 a0001c0001t0001g0270 a0001c0001t0001g0282 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0002g0022 a0001c0001t0002g0225 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0315 a0001c0001t0016g0229 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0145 a0001c0002t0001g0228 a0001c0002t0001g0259 a0001c0002t0002g0009 a0001c0002t0002g0019 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0104 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0152 a0001c0002t0002g0167 a0001c0002t0002g0173 a0001c0002t0002g0239 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0289	46	340	0.1353	-620	c.915 others(17): Show c.915+2953_915+3572del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092962	CGCGCCTA others(613): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTA GGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	340	0.0029	-620	c.915 others(17): Show c.915+3553_915+4172del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPS18_chr6_33267075_33281511	33280891	TGCTCCAT others(613): Show TGCTCCATGGGGCAGGGTCCGAGTGCTCAGAGGCTGGTACGTCCCTCGCA AGTCAAAGATCTTCAGCTGGTGGTCTAGGCCAGAGGTGGCCATGTACCTG GTGAGAGAAGAGGGATCAATTAATATGTCAGTAAATGGGTTTACCAAGCA AGCTGTGGCCAAGTCCAGGCATCAAGTCTGGCTGGGGAGAAAAAGATTAA TAGTAATAACCACTGCCATCACCCTGAACACTCCACAGGCATCCTCTCAG TTAAGCTGCACACAACTCATACTATTTTTATTTCCCTTTAAGAGGTGAGG AAACTGAAGCTCAGGGAAAGGAAAGCTAGGTCAGTGAATGGTCAGGCCTG TCTCTTTAGCATCTGCCTCTAACCTGCTAACACCACACAGCCCTCTCAAG ACACGGGCGTCAAAAGGAACGCCCACACGACAGGCTGCACCCAAATGTGA TGTCCCCCTGTACACACATGCAGCACACAGCCCAGCAAGGGGAAGGAGCA TGTGCAGTGGTCAGAAAGGCTTCATGGGAAAGGTGGGATTTGAGCCATTC TAGATAATTCTCAAAAAATTACAGGAAGTAGATACACAGCAGGTTCAAAT GCATTAACACCAGAGTGTTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	375	0.0027	-620	c.44 others(11): Show c.4426_*5045del	RPS18	ENSG00000231500.7	transcript	ENST00000439602.7	protein_coding		4381		chr6	TogoVar
STON1_chr2_48525154_48603513	48555751	GGGGCGGC others(613): Show GGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACG GGGTGGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGG GTGGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGT GGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCCTCCTGGACGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACC CCCCCACCTCCCTCCCGGACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01255.hp2 HG00280.hp2 HG01070.hp2 HG01255.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0014 a0001c0008t0004 a0001c0008t0014	a0001c0008t0004g0368 a0001c0008t0004g0369 a0001c0008t0014g0372 a0001c0008t0004g0368 a0001c0008t0004g0369 a0001c0008t0014g0372	3	376	0.0080	-620	c.-47 others(19): Show c.-47-24817_-47-24198del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
TACR3_chr4_103581031_103724985	103586675	CATGAATT others(613): Show CATGAATTCAGCTGCTGGGTCAGAAATGTCACCATCATGAAGTTAGAAGA TGGAATAATGCAACAGTGTGCTGTACTTGGTAAAAAATAAAAAAGTGTGA GAGTGAATTCTGTAACAATTATGTCCGCTTTAATATTTTCCCATACAGGT AATTTCAATATCTTGTACTTTGTCCAGATGCAAAATAGTAAGCAATGTTT ATTTTTGATTTAATGTATTTTGTTTAAAAGAGAATACTTACAATGATGTA AGCCTTTTTGATTCTTTCATATTTGTTTAAAAATATTTTGAATTTTTCTG ATACTGATCTAAGTAAAAAAACCTGGGCTGTTTTAACCATCTGCCTAGTA GTCTGAGCCAGTGTTTGCCTTCAAACAATGGAAAGATTCATACTGAACTT TAGAAACAGAGGGTAGAGTAAATTTTGAAGGCAGATTCTTTCCAAGCTTA GCAAATATGAAAACACTGGGATGACTTTATTTAAAAATGAATCTCACTGA ATTTGATTTTGTGCATTATTCTGTAATTCTTATTGTCAAAATGCAGACAA AAGAGTGAAAAATCTTCTCTTTTATATTTCACTCTTGTTTTATTATTGTC GTTTAAATTTTTGAACTTAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0249 a0001c0001t0044g0249	1	280	0.0036	-620	c.23 others(11): Show c.2387_*3006del	TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	5/5	2387		chr4	TogoVar
TBC1D5_chr3_17152168_17747631	17499416	AAAAATTC others(613): Show AAAAATTCTAGGTAGGGGACTGTGGCTCACACCTGTAATCTCAGCACTTT GGGAGGCCCATGTGGGCGGATCACTTGAGACCAGCCTGGGCAACATGGAA AGACCCTGTCTCTACTAAAAAATACAAAAATTTGCCGGGTGTGGTGACGC ATTCCTATCGTCCCAGCTACTTGAAAGGCTGGGGTGGGAGGATCATCTGA ACCCTGCCAGGTCAAGGCTGCAGTGAGCCATGATTGTACCACTGCCTGTG TGAAAAAGTGAAACACTGTCTCCAAAAAAAAAAAAAAATCTAAACCCTTA CTCTACTGTAGTTTTTGGCCCCATTAATGAATCAACAAAAAGCAACCAAC ATAATTTTTTGATAAAAGCTCCATTATAGGCCATTTTACTTCAATGTTTG TTTCATATTTTAGGTTTTAAGATAATACTCTAAATCACCAGTGTCTCCTC TAGTTGTGCCAAGACCAATCAACCAAAACTACCACCACACAACCTCCCAT GTCTGGGGGGTCCAGGAATACTAGAAAGGATGGTGGAGAATATATCTTAA GACATGGATATCCTTTTGCAGACCTAATTGCCTAAAGGGGTAGTGGATAA GGGCTATTGCAAGGCTACTGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01433.hp1 others(21): Show HG00280.hp1 HG01109.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG04184.hp2 NA18522.hp1 NA18975.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0005 a0001c0001t0002g0045 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0003g0109 a0001c0001t0004g0114 a0001c0001t0006g0003 a0001c0001t0006g0043 a0001c0001t0006g0110 a0001c0001t0009g0123 a0002c0002t0001g0154 a0003c0005t0001g0115	24	162	0.1482	-620	c.97+ others(15): Show c.97+8438_97+9057del	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	3/22			chr3	TogoVar
DHRSX_chrX_2214506_2505976	2277571	AGAGGGAG others(612): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAG GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGG GAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	50	0.0200	-619	c.389 others(19): Show c.389-11243_389-10625del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2277660	AGAGGGAG others(612): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGA GAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGA GAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAG GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGG GAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	50	0.0200	-619	c.389 others(19): Show c.389-11332_389-10714del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
IDI1_chr10_1034419_1054119	1046951	CTGTCTAC others(612): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG03225.hp1 others(1): Show HG02559.hp1 HG02622.hp2 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0077 a0001c0001t0006g0040 a0001c0001t0006g0108 a0001c0001t0004g0077 a0001c0001t0006g0040 a0001c0001t0006g0108	4	438	0.0091	-619	c.140 others(17): Show c.140+1294_140+1912del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
NEU4_chr2_241804193_241822413	241806988	ACCCTCCC others(612): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCA CGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 NA19002.hp2 HG02897.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0004t0001g0112 a0001c0001t0001g0003 a0001c0004t0001g0112	2	319	0.0063	-619	c.-22 others(11): Show c.-2289_-1671del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2204		chr2	TogoVar
NUF2_chr1_163316954_163360759	163358291	GCTTATTT others(612): Show GCTTATTTTTTTATTTTTTTTGTAGAGACAGGGTTTTGCCATGTTGGCTA GGCTGGGCTCGAACTCCTAACCTCAAGTGATTCGCCCGCCTCGGCCTCCC AAGGTTCTCGGATTGCAGGCATGAGCCACCGCTCCTAGCGAAATCTAATG CTTTTTTAACTGTCAGCTTTTCCTTTTTTCTTTTATTTTTACTGTAATTT GTATCATTATATTGTATTTTTTTTTTACACATGTTACACCTTGCTGGACT TAAGGTTTTTCAAGCCCAGTAACTAATCTGTTTTAGTATTTCTACTCTAG CATGGAACCAAGCACCTGGTAGTCACTTAAATGTTTACTTAAGGAATAGC CATCACTCTCCTATGACCAAAGCATATAACCTTGAGGCCAGGTTTATCCC AGCAAGAAATGTTATCTTTTATGCATTTTTTATGCCAAATAACATATGTT TCAGCAGTTTGATATTTTCACTTTCTATTTTTGCCCCCAAAGAGGTAAAA AGCCTTATTTAAGAGGCCTTCAGTATAATCCACATTTGGCTGTTTTGACT AAAGAATAACTGAGTAAATTTAGGATTTTCCCCAGCGCCTTCTTGAAAAT GACTACTTGGATCATGTACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	400	0.0025	-619	c.28 others(11): Show c.2823_*3441del	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		2533		chr1	TogoVar
PDPR_chr16_70109332_70167537	70133208	CGGTTCAA others(612): Show CGGTTCAAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGGTGGTAGGTGGG ATTACAAGCGCCTGCCACCACTCCCGACTAATTTTTGTGTTTTTAGTAGA GACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGACCTCAG GTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGC CACTGCGTCTGGCCTTTTTTTTTTTTTGAGATAAGAGTCTTGCTCTGTCG CCCAGACTGGAGTGCAGTGGCACAATCTCGGCTCACTCCAACCTCCACCT CCTAGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTA CAGGCATGCATCAACATGTCCAGCTAGTTTATGTATTTTTAGTAGAGACA GGATTTTACCACGTTGGCCAGGCTGGTCTTGAAATCCTGGCCTCAAGTGA TCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGAGTAAAGGTGTGAGCCACT GTGCCCAGCTCTGCTTCTTTTTTTTGTTTTTTTGTTTTTTTTTGAGATGG AGTTTCACTCTTGTTGCCCAGGCTCAAGTGCAATGGTGCGATCTCGGCTC ACCGCAACGTCTGCCTCCCG	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	289	0.0035	-619	c.997 others(16): Show c.997+939_997+1557del	PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar

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