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
GYG2_chrX_2823930_2887818	2845381	ATATTTAT others(165): Show ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTT ATATACACGTGTGTATGTATATT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0127 a0004c0008t0006g0127	1	316	0.0032	-172	c.149 others(17): Show c.149+2031_149+2202del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IDUA_chr4_982044_1009564	999632	CGCAAGTG others(165): Show CGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCC CCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGG CAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGG CCTCGTGGGAATTCAGCCCATCT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	426	0.0024	-172	c.300 others(15): Show c.300-950_300-779del	IDUA	ENSG00000127415.13	transcript	ENST00000514224.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
IDUA_chr4_982044_1009564	999687	GAATGCAG others(165): Show GAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGG CGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCG TGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCC CTTGAGGACGCCTGTCCCCTCGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01975.hp2 HG02071.hp1 others(16): Show HG00733.hp2 HG01975.hp2 HG02071.hp1 HG02074.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG03453.hp1 HG04115.hp2 NA18747.hp2 NA18970.hp2 NA18978.hp1 NA19054.hp2 NA19074.hp2 NA19081.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0004 a0003c0006 others(1): Show a0001c0001 a0003c0004 a0003c0006 a0010c0022	a0001c0001t0001 a0003c0004t0001 a0003c0006t0001 others(1): Show a0001c0001t0001 a0003c0004t0001 a0003c0006t0001 a0010c0022t0001	a0001c0001t0001g0008 a0001c0001t0001g0311 a0003c0004t0001g0178 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0311 a0003c0004t0001g0178 a0003c0004t0001g0181 a0003c0004t0001g0184 a0003c0004t0001g0191 a0003c0004t0001g0195 a0003c0004t0001g0216 a0003c0006t0001g0044 a0003c0006t0001g0045 a0003c0006t0001g0046 a0003c0006t0001g0055 a0003c0006t0001g0094 a0003c0006t0001g0104 a0010c0022t0001g0193 a0010c0022t0001g0202	19	426	0.0446	-172	c.300 others(15): Show c.300-839_300-668del	IDUA	ENSG00000127415.13	transcript	ENST00000514224.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
IL1RN_chr2_113122598_113139014	113130528	TATCCTGG others(165): Show TATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCA GGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAG TGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCT CTAGGAGTAACTGGGTAGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00733.hp1 others(58): Show HG00323.hp1 HG00408.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18941.hp1 NA18943.hp1 NA18954.hp1 NA18964.hp1 NA18977.hp2 NA18989.hp1 NA19001.hp1 NA19030.hp1 NA19058.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19082.hp2 NA19087.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0002c0008	a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 a0001c0004t0001 a0001c0009t0004 a0001c0010t0001 a0002c0008t0002	a0001c0001t0002g0042 a0001c0001t0012g0056 a0001c0002t0001g0039 others(13): Show a0001c0001t0002g0042 a0001c0001t0012g0056 a0001c0002t0001g0039 a0001c0003t0002g0003 a0001c0003t0002g0010 a0001c0003t0002g0029 a0001c0003t0002g0032 a0001c0003t0002g0034 a0001c0003t0003g0033 a0001c0003t0013g0003 a0001c0004t0001g0003 a0001c0004t0001g0005 a0001c0004t0001g0031 a0001c0009t0004g0030 a0001c0010t0001g0005 a0002c0008t0002g0003	61	428	0.1425	-172	c.206 others(15): Show c.206-344_206-173del	IL1RN	ENSG00000136689.20	transcript	ENST00000409930.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406083	GTGTTTGT others(165): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0212 a0001c0001t0020g0212	1	276	0.0036	-172	c.57 others(9): Show c.579_*750del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	579		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406251	GTGTTTGT others(165): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0211 a0001c0001t0211	a0001c0001t0211g0101 a0001c0001t0211g0101	1	276	0.0036	-172	c.41 others(9): Show c.411_*582del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	411		chr2	TogoVar
ITIH5_chr10_7554270_7671966	7667067	CCCCGCCC others(165): Show CCCCGCCCACCCCACGGACCCAGCCCGGACCCCGCCCACCCCACGGACCC AGCCCGGACCCCGCCCACCCTGCGGTCCCCTCCTGGACTCCGCCCACCCC ACGGACCCAGCCCGGACCCCGCCCACCCCACGGACCCAGCCCGGACCCCG CCCACCCCGCGTCCCAGCCCGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	342	0.0029	-172	c.-34 others(9): Show c.-347_-176del	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		102		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7667072	CCCACCCC others(165): Show CCCACCCCACGGACCCAGCCCGGACCCCGCCCACCCCACGGACCCAGCCC GGACCCCGCCCACCCTGCGGTCCCCTCCTGGACTCCGCCCACCCCACGGA CCCAGCCCGGACCCCGCCCACCCCACGGACCCAGCCCGGACCCCGCCCAC CCCGCGTCCCAGCCCGGACCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0303 a0002c0018t0001g0303	1	342	0.0029	-172	c.-35 others(9): Show c.-352_-181del	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		107		chr10	TogoVar
KHDRBS2_chr6_61674961_62291225	61954830	GCATATGT others(165): Show GCATATGTATGTATACATATGCATGTGTATATACACATACATATGTGTAT ATATGTATATATACACATACATATGTGTGCATACATATATATGTATACAC ATACATATGTATGTGTATACATATATATGTATATATACGCATACATATGT ATGTGTATACATATATAGACATA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0191 a0001c0002t0004g0192	2	244	0.0082	-172	c.483 others(19): Show c.483+23064_483+23235del	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KIF3C_chr2_25921598_25987497	25962779	TATATATA others(165): Show TATATATATAATATATATTATATAATATATAATATATATAATATATAAAA TATATAAAATATATAATATATAATATAATATATAATATATATAATATATA AAATATATATAATATAAAATATATATAATATATAATATATATAATATATA ATACATATAATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp1 HG03688.hp1 others(1): Show HG02976.hp1 HG03041.hp1 HG03688.hp1 HG03710.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0007t0001 a0001c0007t0011 a0001c0005t0001 a0001c0007t0001 a0001c0007t0011	a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0007t0001g0165 others(1): Show a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0007t0001g0165 a0001c0007t0011g0158	4	240	0.0167	-172	c.154 others(19): Show c.1546-6507_1546-6336del	KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7			chr2	TogoVar
LY6G6D_chr6_31710348_31722919	31711422	GTCTACTC others(165): Show GTCTACTCAGGCTGGCAGGCCCAGTGGGGGTATGTTATTTATTGGGCCGG GGCCATGCTGGGATGTCTGTGAACCATGGGCGAGTCTGGGCTGGTGAAGC GAGGGAGGATATTGATGCTCCCAACTTGGCCATTCCCTAGTCTCAGGCAG AAATGAGCTGAGCTCCAGCCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	401	0.0025	-172	c.-39 others(11): Show c.-3933_-3762del	LY6G6D	ENSG00000244355.8	transcript	ENST00000375825.8	protein_coding		3925		chr6	TogoVar
LY6G6F_chr6_31701866_31715679	31711422	GTCTACTC others(165): Show GTCTACTCAGGCTGGCAGGCCCAGTGGGGGTATGTTATTTATTGGGCCGG GGCCATGCTGGGATGTCTGTGAACCATGGGCGAGTCTGGGCTGGTGAAGC GAGGGAGGATATTGATGCTCCCAACTTGGCCATTCCCTAGTCTCAGGCAG AAATGAGCTGAGCTCCAGCCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	425	0.0024	-172	c.83 others(10): Show c.832_*1003del	LY6G6F	ENSG00000204424.10	transcript	ENST00000375832.5	protein_coding		744		chr6	TogoVar
LYPLAL1_chr1_219168878_219217858	219199511	CGGCTCAC others(165): Show CGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCA GCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACGCCCGGCTAAT TTTTTTTTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGG CTAGAGTGCAGTGGCGTGATCTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	358	0.0028	-172	c.361 others(17): Show c.361+6273_361+6444del	LYPLAL1	ENSG00000143353.12	transcript	ENST00000366928.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
MBOAT7_chr19_54168415_54194580	54181697	AGGAGGGA others(165): Show AGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGG GAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGA GGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGG GAGGGAAGGAGGGAAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	373	0.0027	-172	c.494 others(15): Show c.494-736_494-565del	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBP_chr18_76973833_77137783	77036338	GACTGAGC others(165): Show GACTGAGCTGAGCAAGTGCTGGTCACATTTTGGAGACAGAACTGAGCAAG TGCTGCTCACGTTTCAGAGGACTGAGCTGAGCAAGTGCTGGTCACATTTT GGAGGACTGAGCTGAGCAAGTGCTGGTCACATTTTGGAGGACTGAGCTGA GCAAGTGCTGGTCACATTTTGGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02630.hp2 others(3): Show HG02055.hp2 HG02451.hp1 HG02630.hp2 HG02809.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0164 a0001c0001t0001g0214 a0001c0001t0002g0294 others(3): Show a0001c0001t0001g0164 a0001c0001t0001g0214 a0001c0001t0002g0294 a0001c0001t0002g0302 a0001c0002t0001g0181 a0001c0009t0001g0205	6	396	0.0152	-172	c.140 others(19): Show c.140-19242_140-19071del	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MCPH1_chr8_6401627_6653508	6505341	TATATATA others(165): Show TATATATATTCTTTCTATATGTATATAGAATATATATATTCTTTCTATAT GTATATAGAATATATATATTCTTTATATACATAAAGAATATATATATTCT TTATATACATATAGAATATATATATTCTTTACATATATAGAATATATATA TTCTTTATATATGTATATATAGA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0010 a0010	a0010c0044 a0010c0044	a0010c0044t0004 a0010c0044t0004	a0010c0044t0004g0219 a0010c0044t0004g0219	1	262	0.0038	-172	c.221 others(19): Show c.2214+5426_2214+5597del	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MLPH_chr2_237482251_237560322	237543398	GGTGAGTG others(165): Show GGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGA CAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGG GACAGTGGTGAGTGGGCACGGTA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18980.hp1 NA18941.hp1 NA18980.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0010 a0005c0004t0001g0012 a0005c0004t0001g0010 a0005c0004t0001g0012	2	286	0.0070	-172	c.153 others(17): Show c.1539+751_1539+922del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543474	GGGGCACG others(165): Show GGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTG AGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGACAGTA GTGAGTGGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	286	0.0035	-172	c.153 others(17): Show c.1539+819_1539+990del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543513	GGACAGTG others(165): Show GGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGG GCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGT GGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGCACGGTAGTGACTGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0222 a0001c0037t0001g0222	1	286	0.0035	-172	c.153 others(18): Show c.1539+873_1539+1044del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233790502	TTCCTTTT others(165): Show TTCCTTTTTAATTGCCTGCCTTACTTACTCTTTCCCCTCCCTCCCCCTTT CTTTTTCTCCTTCCTTCCTTCCTTCCTCCCTCCCCTCCCCTTTCCCTCAC CTCCCCTCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp1 HG01256.hp1 others(16): Show HG00609.hp1 HG01167.hp1 HG01256.hp1 HG01975.hp1 HG01978.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02615.hp1 HG02896.hp2 HG02897.hp2 NA18956.hp2 NA19001.hp1 NA19010.hp2 NA19030.hp1 NA19064.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0008 a0009 a0010 a0016 a0038 a0082 a0093 a0112 a0113 a0122	a0001c0004 a0002c0139 a0004c0007 others(12): Show a0001c0004 a0002c0139 a0004c0007 a0004c0010 a0005c0006 a0008c0005 a0009c0014 a0010c0160 a0016c0021 a0038c0161 a0082c0085 a0093c0116 a0112c0163 a0113c0162 a0122c0164	a0001c0004t0001 a0002c0139t0001 a0004c0007t0001 others(12): Show a0001c0004t0001 a0002c0139t0001 a0004c0007t0001 a0004c0010t0001 a0005c0006t0001 a0008c0005t0001 a0009c0014t0001 a0010c0160t0001 a0016c0021t0001 a0038c0161t0001 a0082c0085t0001 a0093c0116t0001 a0112c0163t0001 a0113c0162t0001 a0122c0164t0001	a0001c0004t0001g0161 a0002c0139t0001g0240 a0004c0007t0001g0163 others(15): Show a0001c0004t0001g0161 a0002c0139t0001g0240 a0004c0007t0001g0163 a0004c0010t0001g0238 a0005c0006t0001g0325 a0005c0006t0001g0328 a0008c0005t0001g0324 a0009c0014t0001g0166 a0009c0014t0001g0167 a0009c0014t0001g0176 a0010c0160t0001g0100 a0016c0021t0001g0005 a0038c0161t0001g0101 a0082c0085t0001g0165 a0093c0116t0001g0239 a0112c0163t0001g0098 a0113c0162t0001g0097 a0122c0164t0001g0099	19	378	0.0503	-172	c.571 others(15): Show c.571+489_571+660del	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1940225	CAGTAAAC others(165): Show CAGTAAACTGGGTGCACCTGTCTCACACTGCTAGCAGGTAGGTTATCTCT CAACATCTCCCTGTGGCTGCACCCTGCCAGGATGCTCAGTAAACTGGGTG CACCTGTCTCACACTGGTAGCAGGTAGGTTATCTCACAACATCTCACTGT GGCTGCACCCTGCCAGGATGCTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04204.hp2 HG03831.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0082 a0001c0001t0004g0011 a0001c0001t0001g0082 a0001c0001t0004g0011	2	104	0.0192	-172	c.505 others(17): Show c.505+2585_505+2756del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24			chr2	TogoVar
NAIF1_chr9_128056233_128072320	128069918	ATTTTTTT others(165): Show ATTTTTTTTTTTTTTTTTTTGAGAGAGTCTCACTCTGTCACCCAGGCTCG AGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTG CCACCACACCCAGCTAATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	318	0.0031	-172	c.-29 others(11): Show c.-2989_-2818del	NAIF1	ENSG00000171169.9	transcript	ENST00000373078.5	protein_coding		2599		chr9	TogoVar
NCAPG2_chr7_158626169_158709804	158668095	CGCCCTCC others(165): Show CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCT GGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGA CCCTGGGTCCCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCTGCCCTC CTTACCCACTACTGGGTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG03453.hp1 HG01243.hp2 HG02486.hp1 HG03453.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0016 a0001c0001 a0011c0016	a0001c0001t0001 a0011c0016t0001 a0001c0001t0001 a0011c0016t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0011c0016t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0011c0016t0001g0162	3	378	0.0079	-172	c.147 others(19): Show c.1479+3247_1480-3346del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDRG3_chr20_36646771_36751090	36690486	CAATAGAG others(165): Show CAATAGAGCAGACAAAAGATGCACCGAGCAAAGCTCAGGAACCCAATAGA GCAGACAAAAGATGCACCGAGCAAAGCTCAGGAACCCAACAGAGCAGACA AAAGATGCACCGAGCAAAGCTCAGGAACCCAATAGAGCAGACAAAAGATG CACCGAGCAAAGCTCAGGAACCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0070 a0001c0001t0019g0070	1	298	0.0034	-172	c.94- others(15): Show c.94-1874_94-1703del	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	3/15			chr20	TogoVar
NPIPB8_chr16_28633065_28663744	28649168	TTGGCTGC others(165): Show TTGGCTGCTAAGTTGTGCCATAATTTGTCTTTTGAGCCTTTTTTCCTTTG GGTAAGTTGAGCTCTACATTTTGTCTTGCCATTCATGACAGTAAAAATGT GGTTGTCTGGGGGCTGAACCTCCTTCTGAACAATGATCCAAGATAAAAGT ACTAATACCACAATGCTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02055.hp2 HG02280.hp1 others(11): Show HG01106.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02976.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp1 NA18522.hp1 NA20129.hp2	a0008 a0009 a0043 others(1): Show a0008 a0009 a0043 a0044	a0008c0009 a0009c0010 a0043c0055 others(1): Show a0008c0009 a0009c0010 a0043c0055 a0044c0054	a0008c0009t0003 a0009c0010t0003 a0043c0055t0003 others(1): Show a0008c0009t0003 a0009c0010t0003 a0043c0055t0003 a0044c0054t0003	a0008c0009t0003g0331 a0008c0009t0003g0332 a0008c0009t0003g0334 others(10): Show a0008c0009t0003g0331 a0008c0009t0003g0332 a0008c0009t0003g0334 a0008c0009t0003g0335 a0008c0009t0003g0336 a0008c0009t0003g0337 a0009c0010t0003g0010 a0009c0010t0003g0329 a0009c0010t0003g0338 a0009c0010t0003g0339 a0009c0010t0003g0340 a0043c0055t0003g0330 a0044c0054t0003g0333	14	351	0.0399	-172	c.303 others(16): Show c.303+853_303+1024del	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28763284	TTGGCTGC others(165): Show TTGGCTGCTAAGTTGTGCCATAATTTGTCTTTTGAGCCTTTTTTCCTTTG GGTAAGTTGAGCTCTACATTTTGTCTTGCCATTCATGACAGTAAAAATGT GGTTGTCTGGGGGCTGAACCTCCTTCTGAACAATGATCCAAGATAAAAGT ACTAATACCACAATGCTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0026 a0026	a0026c0021 a0026c0021	a0026c0021t0002 a0026c0021t0002	a0026c0021t0002g0170 a0026c0021t0002g0170	1	179	0.0056	-172	c.303 others(16): Show c.303+853_303+1024del	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	893711	TGGAAGCC others(165): Show TGGAAGCCAGAGGAAGCATCTCAACCCCTGGAAGCCAGAGGAAGCATCTC AACTCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGA AGCATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAG CCAGAGGAAGCATCTCAACCCCC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18984.hp2 HG03834.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0187 a0001c0001t0002g0119 a0001c0001t0001g0187 a0001c0001t0002g0119	2	242	0.0083	-172	c.361 others(19): Show c.361-67805_361-67634del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	942400	AGGGTGCA others(165): Show AGGGTGCAGCCATGAATTCACCACACACCTTCCTGGATTTACAGTGAACA AGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACA GCGAACAAGATTCCAGGGCGCAGCCATGAACTCACATCACACCTTCCTGG ATTTACGGTGAACAAGATTCCAG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	242	0.0041	-172	c.360 others(19): Show c.360+36747_360+36918del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	942770	CTCCCTGG others(165): Show CTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCAC ATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATG AATTCACCAAACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGC AGCCATGAACTCACATCACACCT	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	242	0.0041	-172	c.360 others(19): Show c.360+36377_360+36548del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OTUD7A_chr15_31470398_31875673	31511214	CACACATA others(165): Show CACACATACATATGTATATCTATATGTAACACACATACATATGTATATCT ATATGTAACACACATACATATGTATATCTATATGTAACACACATATATAT GTATATCTATATGTAACACACATATATATGTATATCTATATGTAACACAC ATATATATGTATATCTATATGTA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0005 a0002c0005t0016g0005	1	244	0.0041	-172	c.894 others(17): Show c.894-7568_894-7397del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PCGF3_chr4_700832_775089	744815	CGGGGGTC others(165): Show CGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0075 a0001c0001t0063g0075	1	366	0.0027	-172	c.462 others(15): Show c.462+132_462+303del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744869	GCCCCGGG others(165): Show GCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03225.hp1 HG00621.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0176 a0001c0001t0012g0337 a0001c0001t0002g0176 a0001c0001t0012g0337	2	366	0.0055	-172	c.462 others(15): Show c.462+185_462+356del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745270	CGGGGGTC others(165): Show CGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0248 a0001c0001t0009g0248	1	366	0.0027	-172	c.462 others(15): Show c.462+587_462+758del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745324	GCCCGGGG others(165): Show GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00735.hp1 others(1): Show HG00140.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 others(1): Show a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352	4	366	0.0109	-172	c.462 others(15): Show c.462+644_462+815del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746178	GCCCGGGG others(165): Show GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0141 a0001c0003t0005g0141	1	366	0.0027	-172	c.462 others(17): Show c.462+1519_462+1690del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746716	CTCGCCGT others(165): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	366	0.0027	-172	c.462 others(17): Show c.462+2124_462+2295del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747286	CTCGCCGT others(165): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	366	0.0027	-172	c.462 others(17): Show c.462+2658_462+2829del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747346	TCCGTGGA others(165): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCT GCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 NA19240.hp1 HG02145.hp2 HG02615.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0057 a0001c0001t0002 a0002c0002t0002 a0002c0002t0057	a0001c0001t0002g0329 a0002c0002t0002g0331 a0002c0002t0057g0330 a0001c0001t0002g0329 a0002c0002t0002g0331 a0002c0002t0057g0330	3	366	0.0082	-172	c.462 others(17): Show c.462+2694_462+2865del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PGPEP1_chr19_18335598_18374950	18370836	CGGTGGCA others(165): Show CGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCAGAGTTTGCAGTGAACCGAGATCGCGCCAC TGCACTCTGGCCTGGGCAAAAGAGCGAGACTCCACCTCAAAAAAAAAAAA AAATACAAAAGGTAGCTGGGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA19004.hp1 NA18985.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0316 a0001c0001t0321 a0001c0001t0316 a0001c0001t0321	a0001c0001t0316g0316 a0001c0001t0321g0004 a0001c0001t0316g0316 a0001c0001t0321g0004	2	412	0.0049	-172	c.72 others(11): Show c.7254_*7425del	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding		887		chr19	TogoVar
PITPNM3_chr17_6446263_6561555	6519181	CAAAAAAT others(165): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0065 a0001c0001t0050g0065	1	218	0.0046	-172	c.226 others(17): Show c.226+6003_226+6174del	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	3/19			chr17	TogoVar
PPP2R2C_chr4_6315581_6477614	6336653	CTCCCTCC others(165): Show CTCCCTCCCTCCCTGCTTCCATCCCTCCCTCCCTCCCTGCTTCCATCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTT CCATCCCTCCCTCCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp1 NA18945.hp1 others(1): Show HG01358.hp1 HG01496.hp1 NA18945.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0001t0001 a0001c0001t0004 a0001c0002t0003	a0001c0001t0001g0083 a0001c0001t0004g0257 a0001c0001t0004g0275 others(1): Show a0001c0001t0001g0083 a0001c0001t0004g0257 a0001c0001t0004g0275 a0001c0002t0003g0140	4	298	0.0134	-172	c.791 others(17): Show c.791-3094_791-2923del	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PRDM15_chr21_41793225_41884344	41806147	CCACCACC others(165): Show CCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACCACC ACCACCATCACCATCACCATCACCATCACCACCATCACTACCACCATCAC CACCACCACCATCACCACCACCCATCACCACCACCACCATCACCATCACC ACCACCATCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 HG02723.hp2 HG03130.hp2	a0001 a0001	a0001c0044 a0001c0048 a0001c0044 a0001c0048	a0001c0044t0001 a0001c0048t0001 a0001c0044t0001 a0001c0048t0001	a0001c0044t0001g0148 a0001c0048t0001g0380 a0001c0044t0001g0148 a0001c0048t0001g0380	2	406	0.0049	-172	c.265 others(19): Show c.2653-1705_2653-1534del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3303778	CTGTGCCT others(165): Show CTGTGCCTTCTGAGGGATGTGCTGGGGAGCGCAGGAGGCCGTGGGCTCTT TAATCCTTGGGGACAGTGACATGAGACCCCAGCCAAGCCCTGGTGTGCAT GCTGGGGAGTGCAGGAGGCTGTGGGCTCTTTAATCCTTGGGGACAGTGAC ACAGGACCCCAGCCAAGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp1 HG01891.hp1 others(43): Show HG01123.hp2 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0006 others(8): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0013 a0001c0016 a0001c0025 a0002c0003 a0002c0007 a0002c0030 a0005c0018	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(34): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0028 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0058 a0001c0001t0072 a0001c0001t0077 a0001c0001t0082 a0001c0001t0086 a0001c0001t0087 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0025 a0001c0004t0073 a0001c0006t0011 a0001c0006t0013 a0001c0006t0024 a0001c0006t0039 a0001c0008t0085 a0001c0013t0001 a0001c0013t0041 a0001c0016t0020 a0001c0025t0044 a0002c0003t0004 a0002c0003t0007 a0002c0003t0059 a0002c0007t0001 a0002c0007t0002 a0002c0007t0024 a0002c0030t0047 a0005c0018t0012	a0001c0001t0001g0006 a0001c0001t0001g0203 a0001c0001t0011g0022 others(43): Show a0001c0001t0001g0006 a0001c0001t0001g0203 a0001c0001t0011g0022 a0001c0001t0012g0041 a0001c0001t0012g0129 a0001c0001t0014g0069 a0001c0001t0023g0072 a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0001t0042g0124 a0001c0001t0045g0024 a0001c0001t0046g0042 a0001c0001t0058g0043 a0001c0001t0072g0008 a0001c0001t0077g0036 a0001c0001t0082g0067 a0001c0001t0086g0033 a0001c0001t0087g0062 a0001c0004t0004g0051 a0001c0004t0007g0063 a0001c0004t0010g0032 a0001c0004t0010g0034 a0001c0004t0010g0130 a0001c0004t0010g0174 a0001c0004t0025g0205 a0001c0004t0073g0143 a0001c0006t0011g0039 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0006t0024g0026 a0001c0006t0039g0140 a0001c0008t0085g0003 a0001c0013t0001g0104 a0001c0013t0041g0025 a0001c0016t0020g0108 a0001c0025t0044g0109 a0002c0003t0004g0048 a0002c0003t0004g0068 a0002c0003t0004g0123 a0002c0003t0007g0103 a0002c0003t0059g0037 a0002c0007t0001g0001 a0002c0007t0002g0045 a0002c0007t0024g0070 a0002c0030t0047g0206 a0005c0018t0012g0030	46	210	0.2191	-172	c.438 others(19): Show c.438+59681_438+59852del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106607	TGTCACCA others(165): Show TGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACC TCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGG CGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCT CTGGTGGGCGAGGACCTCCACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG03471.hp2 HG02895.hp1 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0022	3	286	0.0105	-172	c.335 others(19): Show c.335-28652_335-28481del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162458127	ACCTGTAA others(165): Show ACCTGTAATCCCCAGCTACTTAGGAGGCTGAGACAGGGAGAATTGCTTGA ACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCTCCACTGCACTCCA GCCTGGGTGATAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAA TTACCTGGGTGTGGTGGCACGTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02602.hp1 HG01192.hp2 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0009 a0001c0001t0001 a0002c0002t0009	a0001c0001t0001g0017 a0002c0002t0009g0008 a0001c0001t0001g0017 a0002c0002t0009g0008	2	32	0.0625	-172	c.8-1 others(15): Show c.8-14826_8-14655del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PTPN2_chr18_12787152_12889237	12870269	ATATGTAT others(165): Show ATATGTATATATATACATATACATATATATGTGTATATATACATATATAT GTGTATATATATGTATATATATACATATATATGTGTATATATATGTGTAT ATATACATATATATACGTATATATGTATATATACACGTATATATATGTAT ATATATACGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	370	0.0027	-172	c.70- others(17): Show c.70-11187_70-11016del	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PXDNL_chr8_51314577_51814445	51534762	CGCCCGGC others(165): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTAGGAAGTGAGGACCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0002 a0028c0038t0002	a0028c0038t0002g0119 a0028c0038t0002g0119	1	122	0.0082	-172	c.380 others(19): Show c.380+21906_380+22077del	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
RASGEF1C_chr5_180095795_180214211	180113455	ACCGGGGA others(165): Show ACCGGGGATGGACGGAGTGACCGGGGATGGACGGAGGGACCGGGGATGGA CGGAGGGATCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGATCCG GGATGGACGGAGGGACCGGGGATGGACGGAGGGATCGGGGATGGACGGAG GGATCGGGGATGGACGGAGGGAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0095 a0001c0001t0011g0095	1	370	0.0027	-172	c.117 others(17): Show c.1179+819_1179+990del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180113505	CGGAGGGA others(165): Show CGGAGGGATCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGATCCG GGATGGACGGAGGGACCGGGGATGGACGGAGGGATCGGGGATGGACGGAG GGATCGGGGATGGACGGAGGGATCCGGGGATGGACGGAGTGACCGGGGAT GGACGGAGGGACCGGGGATGGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(111): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18945.hp1 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19074.hp1 NA19084.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0031 a0001c0001t0047 a0001c0001t0062 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0013 a0001c0002t0023 a0001c0002t0024 a0001c0002t0030 a0001c0002t0031 a0001c0002t0033 a0001c0002t0035 a0001c0002t0042 a0001c0002t0055 a0001c0002t0079 a0001c0002t0080 a0001c0003t0069 a0001c0005t0040 a0001c0005t0065 a0001c0006t0001	a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 others(111): Show a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0245 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0321 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0006g0024 a0001c0001t0006g0031 a0001c0001t0006g0039 a0001c0001t0007g0162 a0001c0001t0007g0164 a0001c0001t0008g0367 a0001c0001t0009g0068 a0001c0001t0009g0075 a0001c0001t0011g0098 a0001c0001t0018g0062 a0001c0001t0031g0008 a0001c0001t0047g0005 a0001c0001t0062g0066 a0001c0002t0001g0176 a0001c0002t0001g0194 a0001c0002t0001g0198 a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0234 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0280 a0001c0002t0001g0302 a0001c0002t0001g0310 a0001c0002t0001g0323 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0336 a0001c0002t0002g0103 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0128 a0001c0002t0002g0140 a0001c0002t0006g0046 a0001c0002t0006g0047 a0001c0002t0006g0049 a0001c0002t0006g0058 a0001c0002t0007g0170 a0001c0002t0008g0340 a0001c0002t0008g0342 a0001c0002t0008g0343 a0001c0002t0008g0346 a0001c0002t0008g0351 a0001c0002t0008g0360 a0001c0002t0009g0064 a0001c0002t0009g0071 a0001c0002t0009g0081 a0001c0002t0011g0101 a0001c0002t0011g0102 a0001c0002t0013g0197 a0001c0002t0013g0219 a0001c0002t0013g0254 a0001c0002t0013g0286 a0001c0002t0013g0318 a0001c0002t0023g0348 a0001c0002t0023g0349 a0001c0002t0024g0013 a0001c0002t0024g0016 a0001c0002t0030g0353 a0001c0002t0030g0364 a0001c0002t0030g0370 a0001c0002t0031g0007 a0001c0002t0033g0020 a0001c0002t0035g0087 a0001c0002t0042g0001 a0001c0002t0055g0023 a0001c0002t0079g0228 a0001c0002t0080g0362 a0001c0003t0069g0099 a0001c0005t0040g0257 a0001c0005t0040g0316 a0001c0005t0065g0080 a0001c0006t0001g0337	114	370	0.3081	-172	c.117 others(17): Show c.1179+769_1179+940del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RDH13_chr19_55039316_55068148	55043482	AAGATAAG others(165): Show AAGATAAGCCTGGCCAACATGGTGATACCGTCTTTAATTAGCCAGGTGTG GTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAAT CGCTTGAACATGGGAGACACAGGTTGCAGTGAGCTGAGATCATGCCATTG CACTCCAGCCTGGGCAACAGAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	377	0.0027	-172	c.14 others(11): Show c.1420_*1591del	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		833		chr19	TogoVar

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