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
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(95): Show ATACATATGTATATATATGTATGTATATATATACATATGTATATATATAT ATGTGTATATATATATATACGTATATATATGTGTATATATATATATATAC GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	422	0.0024	102	c.11 others(113): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTATATATATATATGTGTATATATATATATACGTATATATATGTGTA TATATATATATATACGTG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(95): Show ATACATATGTATATATATGTATGTATATATATACATATGTATATATATAT ATGTGTATATATATATATATATACGTATATATATGTGTATATATATATAT ACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA19002.hp1 HG04204.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0002g0338 a0001c0001t0001g0036 a0001c0001t0002g0338	2	422	0.0047	102	c.11 others(113): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTATATATATATATGTGTATATATATATATATATACGTATATATATG TGTATATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(95): Show ATACATATGTATATATATGTATGTATATATATACATATGTATATATATAT ATGTGTGTATATATATATATACGTATATATATGTGTATATATATATATAT ACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0393 a0001c0001t0001g0393	1	422	0.0024	102	c.11 others(113): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTATATATATATATGTGTGTATATATATATATACGTATATATATGTG TATATATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178759247	A A	ATCCAAGA others(95): Show ATCCAAGAGGAGATATATATATCTCCAAGAGGATATATATATATATCTCT CTCTCTCTCCAAGAGGATATATATATATATATCTCCAAGAGGATATATAT CTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	232	0.0043	102	c.-67 others(121): Show c.-67-48095_-67-48094insCCAAGAGGAGATATATATATCTCCAA GAGGATATATATATATATCTCTCTCTCTCTCCAAGAGGATATATATATAT ATATCTCCAAGAGGATATATATCTCT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KHDRBS3_chr8_135452456_135652610	135599908	A A	AGCAGCAG others(95): Show AGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGC ACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCAC CAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01258.hp2 others(22): Show HG00735.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02109.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03831.hp1 HG04184.hp2 HG04199.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0002g0237 others(22): Show a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0002g0237 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0008g0324 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0003c0004t0001g0232	25	342	0.0731	102	c.808 others(119): Show c.808-6992_808-6891dupCCTCACAGCACCAGGCAGCAGTGGCAGG CACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCA CCAGGCAGCAGTGGCAGGCACCTC	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KIAA0930_chr22_45187244_45245894	45229010	C C	CTCACCCG others(95): Show CTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGA TCCCTCCCCATCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCC CTA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0190 a0001c0001t0014g0190	1	398	0.0025	102	c.64+ others(119): Show c.64+11629_64+11630insTAGGGGGGTGGAGAGGGATCTTTCGGGT GAGTGGTGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGG GGTGGAGAGGGATCTTTCGGGTGA	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF17_chr1_20659014_20723007	20712606	A A	ATATTATA others(95): Show ATATTATATATATAGATAATATTATCTATATTATATATAGATAATATTAT CTATATTATATATATAGATAATATTATCTATATTATATATAGATAATATT ATC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0233 a0001c0040t0001g0233	1	414	0.0024	102	c.480 others(117): Show c.480+847_480+848insGATAATATTATCTATATATAATATAGATAA TATTATCTATATATATAATATAGATAATATTATCTATATATAATATAGAT AATATTATCTATATATATAATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF1A_chr2_240708767_240825219	240780928	A A	ACACACAC others(95): Show ACACACACACACAGCGCCACACACACACAGCTCCACACACACACACAGCT CCACACACACACAGCTCCACACACACACACACAGCTCCACACACACACAG CTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	330	0.0030	102	c.882 others(119): Show c.882+1661_882+1662insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGGCGCTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781127	A A	ACACACAC others(95): Show ACACACACACACACACAGCTCCACACACACACACACACACACAGCTCCAC ACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAG CTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0225 a0001c0004t0012g0225	1	330	0.0030	102	c.882 others(119): Show c.882+1462_882+1463insGAGCTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(95): Show GCCCCTGAGTGAGGGGGTGGGGGACGCCATCAGGACCCCTGAGTGAGAGG GTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCA GGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp1 HG02040.hp1 HG02165.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0001 a0002c0002t0003 a0001c0007t0001 a0002c0002t0003	a0001c0007t0001g0075 a0002c0002t0003g0120 a0001c0007t0001g0075 a0002c0002t0003g0120	2	330	0.0061	102	c.430 others(117): Show c.430-232_430-231insTCCTGATGGTGGCCCCTACCCTCTCACTCA GGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGCGT CCCCCACCCCCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(95): Show GCCCCTGAGTGAGGGGGTGGGGGACGCCATCAGGACCCCTGAGTGAGAGG GTGGGGGCCAGTATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCA GGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18963.hp2 NA19010.hp1 NA18939.hp2 NA18963.hp2 NA19010.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0021	a0001c0004t0001g0071 a0001c0004t0002g0073 a0001c0004t0021g0072 a0001c0004t0001g0071 a0001c0004t0002g0073 a0001c0004t0021g0072	3	330	0.0091	102	c.430 others(117): Show c.430-232_430-231insTCCTGATGGTGGCCCCTACCCTCTCACTCA GGGGTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGGCGT CCCCCACCCCCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786833	G G	GGCCACCA others(95): Show GGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGACC CCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGGGGGTG GGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18952.hp1 HG02015.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0003 a0001c0001t0011 a0001c0003t0003	a0001c0001t0011g0315 a0001c0003t0003g0047 a0001c0001t0011g0315 a0001c0003t0003g0047	2	330	0.0061	102	c.430 others(117): Show c.430-321_430-320insACCCACCCCCTCACTCAGGGGTCCTGATGG CAGCCCCCACCCCCTCACTCAGGGGTCCAGCAGGCAGCCCCCACCCCCTC ACTCAGGGGTCCTGATGGTGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF26B_chr1_245149985_245714432	245614857	T T	TTCGGATA others(95): Show TTCGGATAGGGATGAGGAGATGCAGACCTTTAAAATCGGATAGGGATGAG GAGATGCAGACCTTTAAAATCGGATAGGGATGAGGAGATGCAGACCTTTA AAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0101 a0001c0002t0054g0101	1	160	0.0063	102	c.209 others(121): Show c.2098+2953_2098+3054dupGATAGGGATGAGGAGATGCAGACCTT TAAAATCGGATAGGGATGAGGAGATGCAGACCTTTAAAATCGGATAGGGA TGAGGAGATGCAGACCTTTAAAATCG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF27_chr9_83829099_83926432	83848109	C C	CATATATA others(95): Show CATATATATGATATATATGATATATCATATATATGATATATATGATATAT CATATATATGATATATATGATATATCATATATCTGATATATATGATATAT CAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0177 a0005c0009t0001g0177	1	346	0.0029	102	c.355 others(121): Show c.3556+1989_3556+1990insATGATATATCATATATATCAGATATA TGATATATCATATATATCATATATATGATATATCATATATATCATATATA TGATATATCATATATATCATATATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF27_chr9_83829099_83926432	83848109	C C	CATATATA others(95): Show CATATATATGATATATATGATATATCATATATATGATATATATGATATAT CATATATCTGATATATCTGATATATCATATATCTGATATATCTGATATAT CAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02622.hp2 HG02809.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0267 a0001c0007t0004g0268 a0001c0007t0004g0267 a0001c0007t0004g0268	2	346	0.0058	102	c.355 others(121): Show c.3556+1989_3556+1990insATGATATATCAGATATATCAGATATA TGATATATCAGATATATCAGATATATGATATATCATATATATCATATATA TGATATATCATATATATCATATATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF27_chr9_83829099_83926432	83848109	C C	CATATATC others(95): Show CATATATCTGATATATATGATATATCATATATCTGATATATCTGATATAT CATATATCTGATATATCTGATATATCATATATCTGATATATCTGATATAT CAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	346	0.0029	102	c.355 others(121): Show c.3556+1989_3556+1990insATGATATATCAGATATATCAGATATA TGATATATCAGATATATCAGATATATGATATATCAGATATATCAGATATA TGATATATCATATATATCAGATATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF3B_chr20_32272651_32340011	32322764	A A	ATTTATAT others(95): Show ATTTATATATATTTATATATATATTTATATATTTATATATATTTATATAT ATATTTATATATATTTATATATTTATATATATTTATATATATTTATATTT ATT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0124 a0001c0001t0019g0124	1	242	0.0041	102	c.174 others(121): Show c.1749-4006_1749-4005insTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATATATATTTATATATATTTATATATTTATAT ATATTTATATATATTTATATTTATTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHL18_chr3_47277944_47351816	47316774	C C	CATATATA others(95): Show CATATATACGTATATATGTATACGTATATATGTGTATATATACACATATA CGTATATATGTGTATATATACACATATATACGTATATATGTATATGTGTG TGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	338	0.0030	102	c.130 others(119): Show c.130-2871_130-2870insGTATATATGTATACGTATATATGTGTAT ATATACACATATACGTATATATGTGTATATATACACATATATACGTATAT ATGTATATGTGTGTGTATATATAC	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL18_chr3_47277944_47351816	47316774	C C	CATATATA others(95): Show CATATATACGTATATATGTATATGTATATATGTGTATATATACACATATA CGTATATATGTGTATATATACACATATATACGTATATATGTATATGTGTG TGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02647.hp2 others(8): Show HG02109.hp1 HG02280.hp2 HG02647.hp2 HG03130.hp2 HG03139.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0034 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0180	11	338	0.0325	102	c.130 others(119): Show c.130-2871_130-2870insGTATATATGTATATGTATATATGTGTAT ATATACACATATACGTATATATGTGTATATATACACATATATACGTATAT ATGTATATGTGTGTGTATATATAC	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(95): Show GATATATATATACACAAATTCCTTGTAAGGGAGGTACATAGCTTTATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	182	0.0055	102	c.180 others(121): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATAAAGCTATGTACCTCCCT TACAAGGAATTTGTGTATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(95): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATACAAATTCCTTGTAAGGGAGGTACATAGCTT TAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	182	0.0055	102	c.180 others(121): Show c.1803-1482_1803-1481insATAAAGCTATGTACCTCCCTTACAAG GAATTTGTATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(95): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATACACAAATTCCTTGTAAGGGAGGTACATAGC TTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0132 a0001c0001t0020g0132	1	182	0.0055	102	c.180 others(121): Show c.1803-1482_1803-1481insAAAGCTATGTACCTCCCTTACAAGGA ATTTGTGTATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL23_chr2_169728832_169756878	169738992	T T	TCCTCCCC others(95): Show TCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCC TCCCCCCTCCCTCTCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTGC TCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03471.hp2 HG03516.hp1 HG02258.hp2 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0118 a0001c0001t0119 a0001c0001t0116 a0001c0001t0118 a0001c0001t0119	a0001c0001t0116g0311 a0001c0001t0118g0291 a0001c0001t0119g0292 a0001c0001t0116g0311 a0001c0001t0118g0291 a0001c0001t0119g0292	3	400	0.0075	102	c.121 others(121): Show c.1214-2386_1214-2385insCTCTCCCCCTCCTCCCCCTCCCCCTC CTCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTCCTCCCCCCTC CCTCTCCTCCCCCTGCTCCCCTCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KRT16_chr17_41604778_41617767	41614701	A A	AAATGGTC others(95): Show AAATGGTCTTCAAGGTCACCAAAGGCTATTAATACCCCAACTGGAGAGAG CGAAAGCCTTATCCAGGTTAAGCAGCACAAAAGTGAGAGAGCAGAGACTC GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	398	0.0025	102	c.-21 others(113): Show c.-2115_-2014dupCTCGAGTCTCTGCTCTCTCACTTTTGTGCTGCTT AACCTGGATAAGGCTTTCGCTCTCTCCAGTTGGGGTATTAATAGCCTTTG GTGACCTTGAAGACCATT	KRT16	ENSG00000186832.9	transcript	ENST00000301653.9	protein_coding		1935		chr17	TogoVar
KRT17_chr17_41614442_41629575	41629362	C C	CTCCTCAC others(95): Show CTCCTCACCCTGAAGGTGGAGGTGGATGTTGTCATTTCTCAAACATACAG GGCTGTGAATATTAGCAACCTCCCCCAACACACACCGTGACGCGGGACTG GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	404	0.0025	102	c.-48 others(113): Show c.-4854_-4853insTTCCAGTCCCGCGTCACGGTGTGTGTTGGGGGAG GTTGCTAATATTCACAGCCCTGTATGTTTGAGAAATGACAACATCCACCT CCACCTTCAGGGTGAGGA	KRT17	ENSG00000128422.18	transcript	ENST00000311208.13	protein_coding		4788		chr17	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742398	G G	GCCAGAGC others(95): Show GCCAGAGCCATATCCACAGCCATAGCCAGATCCAGAGCCATATCCACAGC TATAGCCAGAGCCAGAGCCATATCCACAGCCACATCCACAGCCAGAGCCA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	380	0.0026	102	c.45 others(113): Show c.4552_*4553insATATGGCTCTGGCTGTGGATGTGGCTGTGGATAT GGCTCTGGCTCTGGCTATAGCTGTGGATATGGCTCTGGATCTGGCTATGG CTGTGGATATGGCTCTGG	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		4395		chr21	TogoVar
KRTAP21-2_chr21_30741794_30752259	30743599	T T	TATATATA others(95): Show TATATATACGAATATATATACGTATATATATACGTATATATATACGTATA TATATACGAATATATTCGTATATATATACGAATATATTCGTATATATATA CGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	380	0.0026	102	c.33 others(113): Show c.3351_*3352insTCGTATATATATACGAATATATTCGTATATATAT ACGAATATATTCGTATATATATACGTATATATATACGTATATATATACGT ATATATATTCGTATATAT	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		3194		chr21	TogoVar
LAMA5_chr20_62304065_62372312	62321414	C C	CGGGTGGG others(95): Show CGGGTGGGTTCAGAGGACGGGTGGGTTCAGAGGACGGGTGGGGTCAGTGG AGGGGTGGGGTCAGTGGAGGGGTAGGGTCAGTGGAGGGGTAGGGTCAGTG GAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01993.hp1 HG02129.hp2 others(3): Show HG01070.hp2 HG01993.hp1 HG02129.hp2 NA18612.hp1 NA18983.hp2 NA19088.hp2	a0002 a0050 a0056 others(1): Show a0002 a0050 a0056 a0058	a0002c0003 a0050c0114 a0056c0104 others(1): Show a0002c0003 a0050c0114 a0056c0104 a0058c0122	a0002c0003t0001 a0050c0114t0005 a0056c0104t0001 others(1): Show a0002c0003t0001 a0050c0114t0005 a0056c0104t0001 a0058c0122t0001	a0002c0003t0001g0137 a0002c0003t0001g0139 a0002c0003t0001g0146 others(3): Show a0002c0003t0001g0137 a0002c0003t0001g0139 a0002c0003t0001g0146 a0050c0114t0005g0079 a0056c0104t0001g0131 a0058c0122t0001g0080	6	186	0.0323	102	c.649 others(119): Show c.6497-525_6497-524insCTCCACTGACCCTACCCCTCCACTGACC CTACCCCTCCACTGACCCCACCCCTCCACTGACCCCACCCGTCCTCTGAA CCCACCCGTCCTCTGAACCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321414	C C	CGGGTGGG others(95): Show CGGGTGGGTTCAGAGGACGGGTGGGTTCAGAGGACGGGTGGGGTCAGTGG AGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGGGTAGGGTCAGTG GAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0000 a0000	a0000c0120 a0000c0120	a0000c0120t0001 a0000c0120t0001	a0000c0120t0001g0077 a0000c0120t0001g0077	1	186	0.0054	102	c.649 others(119): Show c.6497-525_6497-524insCTCCACTGACCCTACCCCTCCACTGACC CCACCCCTCCACTGACCCCACCCCTCCACTGACCCCACCCGTCCTCTGAA CCCACCCGTCCTCTGAACCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321414	C C	CGGGTGGG others(95): Show CGGGTGGGTTCAGAGGACGGGTGGGTTCAGAGGACGGGTGGGTTCAGAGG ACGGGTGGGGTCAGTGGAGGGGTAGGGTCAGTGGAGGGGTAGGGTCAGTG GAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0092 a0092	a0092c0023 a0092c0023	a0092c0023t0001 a0092c0023t0001	a0092c0023t0001g0009 a0092c0023t0001g0009	1	186	0.0054	102	c.649 others(119): Show c.6497-525_6497-524insCTCCACTGACCCTACCCCTCCACTGACC CTACCCCTCCACTGACCCCACCCGTCCTCTGAACCCACCCGTCCTCTGAA CCCACCCGTCCTCTGAACCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMP1_chr13_113292239_113328672	113322727	G G	GTGCCGCT others(95): Show GTGCCGCTCTCTCTGAGGGGGTGGGGGTGCCGCTTTCTCTGAGGGGGTGG GGGTGCCGCTCTCTCTGAGGGGGTGGGGGTGCTGCTCTCTCCGAGGGGTG GAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0216 a0001c0001t0024g0216	1	354	0.0028	102	c.31 others(111): Show c.313_*314insCTCTCTGAGGGGGTGGGGGTGCCGCTTTCTCTGAGG GGGTGGGGGTGCCGCTCTCTCTGAGGGGGTGGGGGTGCTGCTCTCTCCGA GGGGTGGAATGCCGCT	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	9/9	314	INFO_REALIGN_3_PRIME	chr13	TogoVar
LAP3_chr4_17572198_17612970	17577191	C C	CGCACGCG others(95): Show CGCACGCGCACGCGCACACGAATGCGGGCGCACACGAATGCGGGCGCACA CGAATGCGGGCGCACACGAATGCGGGCGCACACGAATGCGGGCGCACACG AAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18947.hp2 NA19001.hp1 others(1): Show NA18942.hp1 NA18947.hp2 NA19001.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0057 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0112	4	300	0.0133	102	c.-27 others(111): Show c.-275_-274insGCACGCGCACGCGCACACGAATGCGGGCGCACACGA ATGCGGGCGCACACGAATGCGGGCGCACACGAATGCGGGCGCACACGAAT GCGGGCGCACACGAAT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding		6		chr4	TogoVar
LATS2_chr13_20968036_21066586	20977644	A A	AAGATGGT others(95): Show AAGATGGTAAATTTTAATTTACCATTAAAATAATTAGATGGTAAATTTTA ATTTACCATTAAAATAATTAGATGGTAAATTTTAATTTACCATTAAAATA ATT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0188 a0001c0001t0006g0188	1	316	0.0032	102	c.277 others(121): Show c.2772+1945_2772+2046dupAATTATTTTAATGGTAAATTAAAATT TACCATCTAATTATTTTAATGGTAAATTAAAATTTACCATCTAATTATTT TAATGGTAAATTAAAATTTACCATCT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	7/7			chr13	TogoVar
LCN15_chr9_136754634_136769518	136769483	A A	ACACCCCC others(95): Show ACACCCCCCATGCACTGCCCCCCCGCCACCCCCGCCACCCCCCATGCACT GCCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCCGCCCACCC CGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	102	c.-49 others(113): Show c.-4996_-4995insGCGGGGTGGGCGGGGGGGCAGTGCATGGGGGGTG TCGGGGTGTCGGGGGGGGCAGTGCATGGGGGGTGGCGGGGGTGGCGGGGG GGCAGTGCATGGGGGGTG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4966		chr9	TogoVar
LDB2_chr4_16496541_16903645	16739635	T T	TATATGTA others(95): Show TATATGTATATATATGTATATATATGTATATATATATGTATATATATATG TGTATATGTATGTATATATACATATATGTATATATACGTATATATACATA TAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	162	0.0062	102	c.235 others(121): Show c.235+19522_235+19523insGTATATGTATATATACGTATATATAC ATATATGTATATATACATACATATACACATATATATATACATATATATAT ACATATATATACATATATATACATAT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAG others(95): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01496.hp1 HG02040.hp2 others(5): Show HG00558.hp1 HG01496.hp1 HG02040.hp2 HG02818.hp2 HG04184.hp1 NA18981.hp2 NA19005.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0011 a0001c0001t0056 others(4): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0056 a0001c0001t0141 a0002c0002t0004 a0002c0002t0028 a0002c0002t0031	a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0011g0062 others(5): Show a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0011g0062 a0001c0001t0056g0296 a0001c0001t0141g0250 a0002c0002t0004g0301 a0002c0002t0028g0343 a0002c0002t0031g0325	8	384	0.0208	102	c.794 others(119): Show c.794-2278_794-2177dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	886545	A A	ATTCCCCA others(95): Show ATTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTC CCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCG GCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG01069.hp2 others(22): Show HG00597.hp2 HG00733.hp2 HG01069.hp2 HG01109.hp2 HG01243.hp2 HG01361.hp1 HG02004.hp1 HG02148.hp1 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG03225.hp1 HG03669.hp2 HG03942.hp2 HG04199.hp1 NA18943.hp1 NA18944.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA19010.hp2 NA19012.hp1 NA19068.hp2 NA20905.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0019 a0021	a0001c0001 a0001c0002 a0001c0008 others(6): Show a0001c0001 a0001c0002 a0001c0008 a0001c0013 a0003c0009 a0003c0032 a0007c0046 a0019c0057 a0021c0062	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0002t0001 a0001c0008t0001 a0001c0013t0001 a0003c0009t0001 a0003c0032t0001 a0007c0046t0004 a0019c0057t0001 a0021c0062t0008	a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0121 others(22): Show a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0003g0196 a0001c0001t0019g0258 a0001c0002t0001g0066 a0001c0008t0001g0090 a0001c0013t0001g0168 a0003c0009t0001g0004 a0003c0009t0001g0005 a0003c0032t0001g0006 a0007c0046t0004g0036 a0019c0057t0001g0154 a0021c0062t0008g0212	25	294	0.0850	102	c.729 others(119): Show c.729+6360_729+6461dupCGCCGGGGGCCTAGGGTGGGAGGGGCCT GGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGC CTAGGGTGGGAGGGGCCTGGGGAA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(95): Show GAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGATATATATATATATATATATATATATATATATATAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	102	c.-41 others(113): Show c.-4157_-4156insAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATA TATATATATATATATATA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3971		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237127	G G	GAGAGAGA others(95): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGATATATATATATATATATATATATATATATATATA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	102	c.-41 others(113): Show c.-4153_-4152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATAT ATATATATATATATATAT	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3967		chr11	TogoVar
LOC122319696_chrX_149409877_149420506	149418487	A A	ATATATAT others(95): Show ATATATATATATCATATATATAATATATATTATATTATATATATATCATA TATATAATATATATTATATTATATATATATCATATATATAATATATATTA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01081.hp1 others(18): Show HG00099.hp2 HG00642.hp1 HG01081.hp1 HG01175.hp2 HG01346.hp1 HG01361.hp1 HG01517.hp2 HG02273.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03834.hp1 HG04115.hp1 NA19006.hp1 NA19009.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0001t0001 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0007t0001g0009 a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0007t0001g0009	21	313	0.0671	102	c.-30 others(113): Show c.-3011_-3010insATATAATATATATTATATATATGATATATATATA ATATAATATATATTATATATATGATATATATATAATATAATATATATTAT ATATATGATATATATATA	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		2982		chrX	TogoVar
LOC127933115_chrX_23778278_23788367	23780126	C C	CATATATA others(95): Show CATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATA TATATGTGTATATATACACATATATATGTGTATATATATGTATATATATA CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	334	0.0030	102	c.-31 others(113): Show c.-3152_-3151insATATATATGTGTATATATATGTGTATATATACAC ATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATAT ATATGTATATATATACCT	LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding		3151		chrX	TogoVar
LRCOL1_chr12_132598151_132615582	132602031	G G	GCGATTCT others(95): Show GCGATTCTGTGTGTGACGCCGCCTGTGTGAGCCTCCGATTCTGTGTGTGA CGCCGCCTGTGTGAGCCTCCGATTCTGTGTGTGACGCCGCCTGTGTGAGC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02055.hp2 HG02109.hp1 others(7): Show HG01106.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG02976.hp1 HG03195.hp2 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0003 a0001c0004 a0002c0002 a0003c0003	a0001c0004t0001 a0002c0002t0005 a0003c0003t0007 a0001c0004t0001 a0002c0002t0005 a0003c0003t0007	a0001c0004t0001g0009 a0002c0002t0005g0024 a0002c0002t0005g0046 others(1): Show a0001c0004t0001g0009 a0002c0002t0005g0024 a0002c0002t0005g0046 a0003c0003t0007g0045	10	390	0.0256	102	c.13 others(113): Show c.1370_*1371insGAGGCTCACACAGGCGGCGTCACACACAGAATCG GAGGCTCACACAGGCGGCGTCACACACAGAATCGGAGGCTCACACAGGCG GCGTCACACACAGAATCG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		1119		chr12	TogoVar
LRCOL1_chr12_132598151_132615582	132602271	G G	GATTCTGT others(95): Show GATTCTGTGTGTGACGCCGCCTGTGTGAGCCTCCGATTCTGTGTGTGACG CCGCCTGTGTGAGCCTCCGATTCTGTGTGTGACGCCGCCTGTGTGAGCCT CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0024 a0002c0002t0005g0024	1	390	0.0026	102	c.11 others(113): Show c.1130_*1131insTGGAGGCTCACACAGGCGGCGTCACACACAGAAT CGGAGGCTCACACAGGCGGCGTCACACACAGAATCGGAGGCTCACACAGG CGGCGTCACACACAGAAT	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		879		chr12	TogoVar
LRGUK_chr7_134122340_134269595	134190878	A A	AAAGCAGT others(95): Show AAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGA TAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGC GGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp1 HG02135.hp1 others(6): Show HG00323.hp1 HG01358.hp1 HG02135.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02523.hp1 HG03704.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0001c0001t0001 a0001c0001t0002 a0001c0003t0004	a0001c0001t0001g0086 a0001c0001t0001g0108 a0001c0001t0001g0163 others(6): Show a0001c0001t0001g0086 a0001c0001t0001g0108 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0195 a0001c0001t0002g0031 a0001c0001t0002g0084 a0001c0003t0004g0033 a0001c0003t0004g0154	9	220	0.0409	102	c.133 others(119): Show c.1335-709_1335-708insAAGCAGTTCTGGGGATAGACAGTAGTTG AGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCT GGGGATAGACAGTAGTTGAGCGGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC20_chr10_70293975_70387625	70367958	C C	CTATGTTA others(95): Show CTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGCTATGCTATGTTATGTTATGTTTTATGTTATGTTA TGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0019 a0001c0001t0030g0019	1	378	0.0027	102	c.82+ others(117): Show c.82+8493_82+8494insACATAACATAACATAAAACATAACATAACA TAGCATAGCATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATA	LRRC20	ENSG00000172731.15	transcript	ENST00000446961.4	protein_coding	2/4			chr10	TogoVar
LRRC20_chr10_70293975_70387625	70367958	C C	CTATGTTA others(95): Show CTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTTTATGTTA TGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0203 a0001c0001t0008g0203	1	378	0.0027	102	c.82+ others(117): Show c.82+8493_82+8494insACATAACATAAAACATAACATAACATAACA TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATA	LRRC20	ENSG00000172731.15	transcript	ENST00000446961.4	protein_coding	2/4			chr10	TogoVar
LRRC20_chr10_70293975_70387625	70367958	C C	CTATGTTA others(95): Show CTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTTTATGTTATGTTA TGT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03710.hp1 HG01516.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0157 a0001c0001t0008g0322 a0001c0001t0002g0157 a0001c0001t0008g0322	2	378	0.0053	102	c.82+ others(117): Show c.82+8493_82+8494insACATAACATAACATAAAACATAACATAACA TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATA	LRRC20	ENSG00000172731.15	transcript	ENST00000446961.4	protein_coding	2/4			chr10	TogoVar
LRRC20_chr10_70293975_70387625	70367958	C C	CTATGTTA others(95): Show CTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTTTATGTTATGTTATGTTATGTTA TGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG04115.hp1 HG00621.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0326 a0001c0001t0006g0198 a0001c0001t0001g0326 a0001c0001t0006g0198	2	378	0.0053	102	c.82+ others(117): Show c.82+8493_82+8494insACATAACATAACATAACATAACATAAAACA TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATA	LRRC20	ENSG00000172731.15	transcript	ENST00000446961.4	protein_coding	2/4			chr10	TogoVar
LRRC4C_chr11_40109209_41464652	40696747	T T	TGTATATA others(95): Show TGTATATATATATATATATATATATATATATATATATATATCTGAGTATA TATATATATATATATATATCTGAGTATATATATATATATATATATATATC TGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	48	0.0208	102	c.-40 others(123): Show c.-406-48470_-406-48469insTCAGATATATATATATATATATAT ATATACTCAGATATATATATATATATATATATACTCAGATATATATATAT ATATATATATATATATATATATATATAC	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
LSP1_chr11_1848084_1897263	1873969	G G	GGAGGAGG others(95): Show GGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGGCCGG CAGAGGAGGGAGGCCGGCAGAGGAGGGAGGCTGGCAGAGCAGGGAGCCCG GCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02818.hp2 HG03225.hp2 HG00639.hp1 HG02818.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0027 a0002c0005t0001g0151 a0002c0005t0001g0027 a0002c0005t0001g0151	3	360	0.0083	102	c.54- others(117): Show c.54-6023_54-6022insCCCGGCAGAGGAGGGAGGCCGGCGGAGGAG GGAGGCTGGCAGAGCAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGGA GGGAGGCTGGCAGAGCAGGGAG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar

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