Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(557): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCG GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0020 a0003c0010t0020	a0003c0010t0020g0078 a0003c0010t0020g0078	1	282	0.0036	564	c.623 others(581): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGG GGGCTCGGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGC TCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(557): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCG GGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGG GAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0051 a0002c0001t0051	a0002c0001t0051g0013 a0002c0001t0051g0013	1	282	0.0036	564	c.623 others(581): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTC GGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGG GGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCT CGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGC TCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(557): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCGG GGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0267 a0001c0003t0001g0267	1	282	0.0036	564	c.623 others(581): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTG GAGTTCGGTGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGG GAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGG CGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGC TCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(557): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	232	0.0043	564	c.-67 others(583): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(557): Show GATATTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGA TAATATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATA TAGATATTATCTATATTATAGATAATATCTATAATATAGATATAGATATT ATCTATATCTATAATATAGATAATATTATCTATATTATAGATATAGATAA TATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAG ATAATATTATCTATAATATAGATATAGATATTATCTATATCTATAATATA GATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAA TATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCT ATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTAT ATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTAT CTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATA TTATCTATATCTATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03579.hp1 HG03486.hp2 HG03579.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0374 a0008c0012t0001g0375 a0008c0012t0001g0374 a0008c0012t0001g0375	2	414	0.0048	564	c.480 others(579): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATAT TATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATCTATATCTATATTATAGATAATATTATCTATATCTATAATAT AGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATA ATATAGATAATATTATCTATATTATAGATATAGATAATATCTATATCTAT ATTATAGATATTATCTATAATATAGATAATATCTATATTATAGATATTAT CTATAATATAGATAATATCTATATTATAGATATTATCTATAATATAGATA TAGATAATATCTATATCTATAATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(557): Show GCATCAGGGCCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGA GGGGATGGGAGCCAGCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCC TGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTG AGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATC AGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAG GGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCAT CAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGA GGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACC ATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGA GAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCA CCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGA GAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0069	1	330	0.0030	564	c.430 others(579): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACC CTCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCC AGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGATGCTGGCTCCCAT CCCCTCAGGGGTCCTGGTGGTGGCCCCCACCCCCTCACTCAGGGGTCCTG ATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCC TTTACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTG GTGGCCCCCACCCCCTCACTCAGGGGCCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	167997463	T T	TCGGGGGA others(557): Show TCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGA ATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGCCGGGGGAG TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0018 a0010c0013t0018	a0010c0013t0018g0273 a0010c0013t0018g0273	1	375	0.0027	564	c.-20 others(575): Show c.-2006_-2005insCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCA GAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGA TGGGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGA TGGGGGCCGGGGGAGTCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		207		chr6	TogoVar
KLK7_chr19_50971468_50988917	50981408	A A	AGGGAGAG others(557): Show AGGGAGAGGGGGACAGAGATCCAGAGAGAGAGGGACAGAGACCCAGAGAG AGAGGGACAGAGACCCAGAGAGAGGGGAACAGAGACCAGAGAGAGAGGGG GACAGAGCCCCAGAGAGAGGAAGACAGAGAGCCAGGGAGAGAGGGGGACA GAGCCCCAGGGAGAGGGGGGACAGAGATCCGGAGAGAGAGGAGGGGGAAC AGAGACCAGAGAGAGAGGGGAACAGAGACCCAGAGAGAGAGGGACAGAGA CCCACAGAGAGAGGAGGGGGAACAGAGACCAGAGAGAGAGGGTGACAGAG ACCCAGAGAGAGAGGGTGACAGAGACCCAGAGAGAGAGGGACAGAGACCA GAGAGAGAGGAGGGGGGAACAGAGACCAGAGAGAGAGGGGGACAGAGACC CAGAGAGAGAGGGACAGAGACCCAGAAAGAGAGGAGGGGGGAACAGAGAC CCAGAGAGAGAGGGGGACAGAGACACAGAGGGGAACAGAGATCCAGAGAG AAAGGCAGACAGAGACCCAGAGAGGGGGGGACAGAGCCCCAGGGAGAGGG GGTACAGAGGCCCAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	384	0.0026	564	c.221 others(579): Show c.221+358_221+359insCTGGGCCTCTGTACCCCCTCTCCCTGGGGC TCTGTCCCCCCCTCTCTGGGTCTCTGTCTGCCTTTCTCTCTGGATCTCTG TTCCCCTCTGTGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTTCCCCCC TCCTCTCTTTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCCCT CTCTCTCTGGTCTCTGTTCCCCCCTCCTCTCTCTCTGGTCTCTGTCCCTC TCTCTCTGGGTCTCTGTCACCCTCTCTCTCTGGGTCTCTGTCACCCTCTC TCTCTGGTCTCTGTTCCCCCTCCTCTCTCTGTGGGTCTCTGTCCCTCTCT CTCTGGGTCTCTGTTCCCCTCTCTCTCTGGTCTCTGTTCCCCCTCCTCTC TCTCCGGATCTCTGTCCCCCCTCTCCCTGGGGCTCTGTCCCCCTCTCTCC CTGGCTCTCTGTCTTCCTCTCTCTGGGGCTCTGTCCCCCTCTCTCTCTGG TCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTG TCCCTCTCTCTCTGGATCTCTGTCCCCCTCTCCC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	3/5			chr19	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(557): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCAC ACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCT CCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAG CCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTCCTC ACACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCA CACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTCACAC ACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCTCACACC CCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACC ACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTC CTCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGC CCACACCCCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	308	0.0033	564	c.66 others(575): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACAC AGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCC TCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCAC ACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCTCACA CCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCACACAC CACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCC TCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACA GCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCT CACACACCACACAGCCCACACCCCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LGR6_chr1_202188799_202324761	202205410	C C	CCAGCACA others(557): Show CCAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACA CACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACA CACACACCTAACACACACCTCCTTCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACCCTCCAAACACACACACCTCCTTTAAGCACACA CACACCTCCAAACACACACACACCTAACACACACCTCCAAGCACACACAC ACCTCCAAACACACACACACCCAACACACGCCTCCTTCAAACACACACAT CTCCAAACACACACACACAGCTAACACACACCTTCTTCAAACACACACAC ACCCCTCCAAACACACACACACACACCTCCTTCAAACACACACACCCTCC AAACACACACACCTCCTTCAAACACACACACACACCTCCAAAGACACACA CACACCTAACACACACCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTCCTCCAAACACACACACACCTCCACACACATACCT AACACACACCTCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01256.hp1 others(6): Show HG00408.hp1 HG00741.hp2 HG01256.hp1 HG01361.hp1 HG02155.hp1 HG02486.hp2 HG03688.hp2 NA19068.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0003c0031 a0008c0010	a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 a0003c0031t0001 a0008c0010t0001	a0001c0001t0001g0103 a0001c0001t0001g0138 a0001c0001t0001g0164 others(6): Show a0001c0001t0001g0103 a0001c0001t0001g0138 a0001c0001t0001g0164 a0002c0002t0002g0139 a0002c0002t0002g0163 a0003c0004t0001g0110 a0003c0004t0001g0165 a0003c0031t0001g0137 a0008c0010t0001g0104	9	262	0.0344	564	c.212 others(583): Show c.212+11211_212+11212insGCACACACACCTAACACACACCTCCT TCAAACACACACCTCCACACACACACACACCTAACACACACCTCCTTCAA ACACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAAC ACACACACACCTAACACACACCTCCTTCAAACACACACCCTCCAAACACA CACACCTCCTTTAAGCACACACACACCTCCAAACACACACACACCTAACA CACACCTCCAAGCACACACACACCTCCAAACACACACACACCCAACACAC GCCTCCTTCAAACACACACATCTCCAAACACACACACACAGCTAACACAC ACCTTCTTCAAACACACACACACCCCTCCAAACACACACACACACACCTC CTTCAAACACACACACCCTCCAAACACACACACCTCCTTCAAACACACAC ACACACCTCCAAAGACACACACACACCTAACACACACCTTCAAACACACA CACACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACA CACACCTCCACACACATACCTAACACACACCTCCTTCA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(557): Show ATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATAT TTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAG TTATATATAGTTATGTATAGTTATATATATAGTTATATATAGTTATATAT ATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTT ATATATATAGTTATATATATATATTTTTATATATATAGTTATATATATAT ATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATAT ATATATTTATATATATAGTTATATATTTATATATATTTATATATATTTAT ATATATATTTATATATTTATTTATATATATTTATATATGTATTTATATAT ATTTATATATATTTATATGTATTTATATATATTTATATATATTTATATAT ATATATATAAATATATTTATATATATAAATATAAATATTTATATATATTT ATATATATATTTATGTATATTTATATATATTTATATATATATTTATGTAT ATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	260	0.0039	564	c.125 others(581): Show c.125+9673_125+9674insATTTTTATATATATTTATATATATTTTT ATATATAGTTATATATATTTATATATAGTTATATATATTTATGTATAGTT ATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAG TTATATATAGTTATATATATAGTTATATATATATATTTTTATATATATAG TTATATATATATATTTTTATATATATAGTTATATATATATATTTTTATAT ATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATTTATATATATAGTTATATATTTATAT ATATTTATATATATTTATATATATATTTATATATTTATTTATATATATTT ATATATGTATTTATATATATTTATATATATTTATATGTATTTATATATAT TTATATATATTTATATATATATATATAAATATATTTATATATATAAATAT AAATATTTATATATATTTATATATATATTTATGTATATTTATATATATTT ATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507236	G G	GGTAGACA others(557): Show GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAG GGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGG GAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG GATTTCAGGTGGGGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	260	0.0039	564	c.624 others(581): Show c.624+9112_624+9113insACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTT CAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGATAGGGAGGATTTCAGGTGGGGAGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507458	A A	ATAGGGAG others(557): Show ATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATA GGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAG GGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGA GGATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGG ATTTCAGGTGGGGAGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	260	0.0039	564	c.624 others(581): Show c.624+9337_624+9338insTATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCA GGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAG GTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGG TGGGGGGATAGGGAGGATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCG GGGGGGTAGACAGGATTTCAGGTGGGGAGGTAGGGAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857682	G G	GCAGTGGT others(557): Show GCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGA CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTC ACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	294	0.0034	564	c.153 others(583): Show c.1530-2977_1530-2976insGCACACCCGTCCCGTGACACCACGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACACCACTCACACCCGTCCCGAGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(557): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTG TCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0081 a0002c0017t0001g0081	1	294	0.0034	564	c.153 others(583): Show c.1530-3001_1530-3000insTGCACACCCATCCCGAGACACCACTG CACACCCGTCCCGTGACACCACGCACACCCGTCCCGAGACACCACGCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGTGACACCACGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(557): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCA CGGGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0012 a0012	a0012c0031 a0012c0031	a0012c0031t0001 a0012c0031t0001	a0012c0031t0001g0012 a0012c0031t0001g0012	1	294	0.0034	564	c.153 others(583): Show c.1530-3001_1530-3000insTGCACACCCATCCCGTGACACCACGC ACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857729	C C	CAGTGGTG others(557): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACAGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCA CGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	294	0.0034	564	c.153 others(583): Show c.1530-3024_1530-3023insTGCACACCCGTCCCGTGACACCACGC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTCACACCTGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACA CCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858496	C C	CGTGGTGT others(557): Show CGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGGAC GGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCA GTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGT GGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTC ACGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	294	0.0034	564	c.153 others(583): Show c.1530-3791_1530-3790insTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACAC GCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACGC GTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGT CCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACA CCAGTCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC14_chr8_144512992_144530172	144513768	A A	AGTGGGGA others(557): Show AGTGGGGAGTGAGGGAGGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCG TGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGGTCGGCGTGGGCGGTGGGGGGGAGTGAGGAGGGGTCGGCGTGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGGGTGAGGAGGGGTCGGCTG TGGGCGGTGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	414	0.0024	564	c.-43 others(575): Show c.-4385_-4384insGTGGGGAGTGAGGGAGGGGGTCGGCGTGGGGAGT GAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGGGGAGTGAG GAGGGGTCGGCGTGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTC GGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGGGTG AGGAGGGGTCGGCTGTGGGCGGTGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4223		chr8	TogoVar
LSP1_chr11_1848084_1897263	1871741	T T	TGTGTGTG others(557): Show TGTGTGTGGCGGGCAGGCCTGGGCTGTAGTCACCCCAGCCCGTGCTGGTA GAGTTGGGGTCTGTCCGGCTGGCGTGGGCACTTTTGGGACGGGGTGTGTG TGGCAGGCAGGCCTGGGCTGTAGTCACCCTGGCACACGCTGGTAGAGTTG GGGTCTGTCTGGCTGGCGTGGGCACTTTTGGGAGGGGGGGTGTGTGGCGG GCAGGCCTGGGCTGTAGTCACCCTGGCGCACGCTGGTAGAGTTGGGGTCT GTCTGGCTGGTGTTGGCACCTTTGGGACGGGGTGTGTGTGGCAGGCAGGC CTGGGCTATAGTCACCCTGGTGCACGCTGGTAGAGTTGGGGTCTGTCTGG CTGGCGTGGGCACTTTTGGGAGGGGGTGTGTGTGGCGGGCAGGCCTGGGC TGCAGTCACCCTGGTGCATGCTGGTAGAGTTGGGGTCTGTCCGGCTGGCG TGGGCACCTTTGGGACGGGGTGTGTGTGGTGGGCAGGCCTGGGCTGTAGT CACCCTGGCACACGCTGGTAGAGTTGGGGTCTGTCTGGCTGGCGTGGGCA CTTTTGGGAGGGGGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0084 a0002c0001t0001g0084	1	360	0.0028	564	c.54- others(579): Show c.54-8214_54-8213insACACGCTGGTAGAGTTGGGGTCTGTCTGGC TGGCGTGGGCACTTTTGGGAGGGGGGGTGTGTGGCGGGCAGGCCTGGGCT GTAGTCACCCTGGCGCACGCTGGTAGAGTTGGGGTCTGTCTGGCTGGTGT TGGCACCTTTGGGACGGGGTGTGTGTGGCAGGCAGGCCTGGGCTATAGTC ACCCTGGTGCACGCTGGTAGAGTTGGGGTCTGTCTGGCTGGCGTGGGCAC TTTTGGGAGGGGGTGTGTGTGGCGGGCAGGCCTGGGCTGCAGTCACCCTG GTGCATGCTGGTAGAGTTGGGGTCTGTCCGGCTGGCGTGGGCACCTTTGG GACGGGGTGTGTGTGGTGGGCAGGCCTGGGCTGTAGTCACCCTGGCACAC GCTGGTAGAGTTGGGGTCTGTCTGGCTGGCGTGGGCACTTTTGGGAGGGG GGGTGTGTGGCGGGCAGGCCTGGGCTGTAGTCACCCCAGCCCGTGCTGGT AGAGTTGGGGTCTGTCCGGCTGGCGTGGGCACTTTTGGGACGGGGTGTGT GTGGCAGGCAGGCCTGGGCTGTAGTCACCCTGGC	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(557): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTATATA TGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATATA TGTGTATATATGTGTATATATGCAAACATATATGTGTATATATGTATATA TATGCAAACATATATGTACATACATATATACACACATATATATGTACATA CATATATACACACATATATATGTACATACATATATACACACATATATATG TACATACATATATGCACACATATATATGTACATACATATATGCACACATA TATATGTACATACATATATGCACACATATATATGTACATACATATATGCA CACATATATATGTACATACATATATGCACACATATATATGTACATACATA TATGCACACATATATATGTACATACATATATGCACACATATATATGTACA TACATATATGCACACATATATATGTACATACATATATGCACACATATATA TGTACATACATATATGCACACATATATATGTACATACATATATGCACACA TATATATGTACATAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG01516.hp2 HG01071.hp1 HG01106.hp1 HG01516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0027 a0001c0001t0002g0028 a0002c0002t0001g0067 a0001c0001t0002g0027 a0001c0001t0002g0028 a0002c0002t0001g0067	3	116	0.0259	564	c.62+ others(583): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTATATATGTATATATGTACATATATGTGTATATATGT ATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAACATAT ATGTGTATATATGTATATATATGCAAACATATATGTACATACATATATAC ACACATATATATGTACATACATATATACACACATATATATGTACATACAT ATATACACACATATATATGTACATACATATATGCACACATATATATGTAC ATACATATATGCACACATATATATGTACATACATATATGCACACATATAT ATGTACATACATATATGCACACATATATATGTACATACATATATGCACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATATATGCACACATATATATGTACATAC ATATATGCACACATATATATGTACATACATATATGCACACATATATATGT ACATACATATATGCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(557): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTATATA TGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATATA TGTGTATATATGTGTATATATGCAAACATATATGTGTATATATGTATATA TATGCAAACATATATGTACATACATATATACACACATATATATGTACATA CATATATACACACATATATATGTACATACATATATGCACACATATATATG TACATACATATATGCACACATATATATGTACATACATATATGCACACATA TATATGTACATACATATATGCACACATATATATGTACATACATATATGCA CACATATATATGTACATACATATATGCACACATATATATGTACATACATA TATGCACACATATATATGTACATACATATATGCACACATATATATGTACA TACATATATGCACACATATATATGTACATACATATATGCACACATATATA TGTACATACATATATGCACACATATATATGTACATACATATATGCACACA TATATATGTACATAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0116 a0002c0002t0008g0116	1	116	0.0086	564	c.62+ others(583): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTATATATGTATATATGTACATATATGTGTATATATGT ATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAACATAT ATGTGTATATATGTATATATATGCAAACATATATGTACATACATATATAC ACACATATATATGTACATACATATATACACACATATATATGTACATACAT ATATGCACACATATATATGTACATACATATATGCACACATATATATGTAC ATACATATATGCACACATATATATGTACATACATATATGCACACATATAT ATGTACATACATATATGCACACATATATATGTACATACATATATGCACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATATATGCACACATATATATGTACATAC ATATATGCACACATATATATGTACATACATATATGCACACATATATATGT ACATACATATATGCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LYPD8_chr1_248734415_248760759	248742390	G G	GGGGGAGA others(557): Show GGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGC TCTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGGGATGTT GGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGA TTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGG GATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCGG GGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCT GGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGGGATGTTGGC AGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTAT GCTCTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGGGATG TTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGA GATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTG GGGATGTTGGCAGCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	374	0.0027	564	c.476 others(581): Show c.476-2542_476-2541insGGCTGCCAACATCCCCACCAGAGCATAA CCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCC AACATCCCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGA GCATAACCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCGG CTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCA CCAGAGCATAACCTCCCCGGCTGCCAACATCCCCACCAGAGCATAACCTC CCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCCAACA TCCCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCAT AACCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTG CCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACCA GAGCATAACCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCC CGACTGCCAACATCCCCACCAGAGCATAATCTCCCC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MALRD1_chr10_19043801_19739478	19238498	A A	ATTATATA others(557): Show ATTATATATTATATATATTATACATTATATATAATGTATATTATATATTA TATATATTATACATTATATATAATGTATAATATATATTATATATAATATA CATTATATATAATGTATAATATATATTATATATTATACATTATATATAAT GTATAATATATATTATATATTATACATTATATATAATGTATAATATATAT TATATATAATATACATTATATATAATGTATAATATATATTATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0096 a0096	a0096c0101 a0096c0101	a0096c0101t0001 a0096c0101t0001	a0096c0101t0001g0113 a0096c0101t0001g0113	1	152	0.0066	564	c.299 others(585): Show c.2992-19186_2992-19185insTTATATATTATATATATTATACAT TATATATAATGTATATTATATATTATATATATTATACATTATATATAATG TATAATATATATTATATATAATATACATTATATATAATGTATAATATATA TTATATATTATACATTATATATAATGTATAATATATATTATATATTATAC ATTATATATAATGTATAATATATATTATATATAATATACATTATATATAA TGTATAATATATATTATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579131	A A	ACCACCAT others(557): Show ACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCACCACCA TCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACCACCAC CATCACCATCACCACCACCACCATCACCACCATCACCATCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCATCACCATCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	362	0.0028	564	c.391 others(579): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCATCACCATC ACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCAC CATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCATCCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MEX3D_chr19_1549672_1573325	1550027	T T	TCCATCCA others(557): Show TCCATCCATCCATCCATCCATCCAATCCATCCATCCATCCACCAACCCTC CCCATCCCCATCCATCCACTGTCCCATCCACCATTCACACCCATCCCACC CATCCATCCATCCATCCACCCATCCATCCATTCCATCCACCCATCCTCCA CTCCATCACTCTCATCCACCCATCCATGCACTCAGCACTGCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCAT CCATCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCC ATCCATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCACT TGTCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCA TCCACCCATCTATCCATCCATCCATCATCCACTCCTCATCCGTCCATCCA TCCATCCATCCATCCATTTACCCACTCTCCCATCCCATCCACCCATCGAC TGTCATACATGTCACCATTCCACCCATCCACCATTCCATCCCATCCATCC AATCCACCCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0077 a0001c0001t0028g0077	1	372	0.0027	564	c.55 others(575): Show c.5535_*5536insGTGGATGGGTGGATTGGATGGATGGGATGGAATG GTGGATGGGTGGAATGGTGACATGTATGACAGTCGATGGGTGGATGGGAT GGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGATGAGGAG TGGATGATGGATGGATGGATAGATGGGTGGATGGATGGATGGATGGATGG GTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGATGGGTGGGTGGATG GATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGA TGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGCAGTGCTGA GTGCATGGATGGGTGGATGAGAGTGATGGAGTGGAGGATGGGTGGATGGA ATGGATGGATGGGTGGATGGATGGATGGATGGGTGGGATGGGTGTGAATG GTGGATGGGACAGTGGATGGATGGGGATGGGGAGGGTTGGTGGATGGATG GATGGATTGGATGGATGGATGGATGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4644		chr19	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(557): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGA AAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAG GAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGA GGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAG GGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	280	0.0036	564	c.641 others(579): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACT CTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCC CTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTAC TGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MSLN_chr16_755734_773862	767614	T T	TGGGGGGC others(557): Show TGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTG GAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCG TGGAGGGGGGTGCGTGGAGGAGGAGGGGGCGCATGGGGGGGTGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAG GAGGAGGGGCGCATGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGG AGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGTGTGTG GGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGG AGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGG GGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGA GGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGT GGAGGGGGCCGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0022 a0005c0005t0001g0022	1	388	0.0026	564	c.159 others(581): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGAGGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGA GGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGG GCGCATGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGC GCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGTGTGTGGGGGGGGG CGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGG GGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGT GGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAG CGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGG CCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTTP_chr4_99569824_99628997	99588984	T T	TATATATG others(557): Show TATATATGTTCATATATATATTCATATATATATGTTCATGTATATTCATA TATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0023 a0011c0010t0001g0023	1	364	0.0028	564	c.394 others(579): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589007	A A	ATATATAT others(557): Show ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTC ATATATATGTTCATATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG02258.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0110 a0001c0001t0001g0011 a0001c0001t0001g0110	2	364	0.0055	564	c.394 others(579): Show c.394-636_394-635insTATATATGTTCATATATATATTCATATATA TGTTCATATATATTCATATATATGTTCATATATATATTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATA TGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589009	A A	ACATATAT others(557): Show ACATATATATGTTCATATATATACTCATATATATATGTTCATATATATAC TCATATATATGTTCATATATATACTCATATATATGTTCATATATATACTC ATATATATGTTCATATATATACTCATATATATGTTCATATATATACTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATGTTC ATATATATATATGTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02717.hp1 others(2): Show HG01884.hp2 HG02055.hp2 HG02717.hp1 HG02886.hp1 NA18906.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0013 a0005c0005t0001g0083 a0005c0005t0001g0132 others(2): Show a0005c0005t0001g0013 a0005c0005t0001g0083 a0005c0005t0001g0132 a0005c0005t0001g0133 a0005c0005t0001g0134	5	364	0.0137	564	c.394 others(579): Show c.394-611_394-610insTCATATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATACTCATAT ATATGTTCATATATATACTCATATATATGTTCATATATATACTCATATAT ATGTTCATATATATTCATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATAT ATATATATGTTCATATATATGTTCATATATATAC	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589033	A A	ATATATAT others(557): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0175	1	364	0.0028	564	c.394 others(579): Show c.394-610_394-609insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(557): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0028 a0004c0004t0001g0028	1	364	0.0028	564	c.394 others(579): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATT others(557): Show TATATATTTAAATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATATATATTTATATATAAGTATATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATAAA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TATATATAAATATATATATTTATATATAAGTATATATAAATATATATATT TAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTAAA TATAAGTATATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01517.hp2 others(1): Show HG00280.hp2 HG00738.hp1 HG01517.hp2 HG03942.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0005c0005t0008 a0001c0001t0003 a0005c0005t0008	a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 others(1): Show a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0005c0005t0008g0117	4	326	0.0123	564	c.358 others(581): Show c.358+3439_358+3440insTTAAATATAAGTATATATATAAATATAT ATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATAT ATATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGT ATATATATATTTATATATAAGTATATATAAATATATATATTTATATATAA GTGTATATATATAAATATATATATTTATATATAAGTATATATAAATATAT ATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTATAT ATAAATATATATATTTAAATATAAGTATATATAAATATATATATTTAAAT ATAAGTATATATATAAATATATATTTAAATATAAGTATATATAAATATAT ATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATAT ATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATATATAT AAATATATATTTAAATATAAGTATATATAAATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(557): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA19078.hp2 NA18977.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0014 a0001c0002t0002g0002 a0001c0002t0002g0014	2	350	0.0057	564	c.-28 others(575): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATAT ATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATA TATCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(557): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	350	0.0029	564	c.-28 others(575): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATAT ATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATA TATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084638	T T	TATATCGA others(557): Show TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA TAGATAATACACATCTATGTATTATATATCGATAATACACATCTATGTAT TATATATCGATAATACACATCTATGTATTATATATCGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp1 HG02559.hp1 NA18906.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0006 a0002c0012t0006	a0002c0012t0006g0087 a0002c0012t0006g0092 a0002c0012t0006g0087 a0002c0012t0006g0092	2	170	0.0118	564	c.332 others(583): Show c.332+40376_332+40377insGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATCTATCGATAGATAATACACATCTATGTATTATATATCGATAAT ACACATCTATGTATTATATATCGATAATACACATCTATGTATTATATATC GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTACATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084638	T T	TCTATCGA others(557): Show TCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATAC ACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATAAT ACACATCTATGTATTATATATCGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02809.hp2 HG02040.hp1 HG02809.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0017 a0004c0009t0005 a0001c0001t0017 a0004c0009t0005	a0001c0001t0017g0097 a0004c0009t0005g0101 a0001c0001t0017g0097 a0004c0009t0005g0101	2	170	0.0118	564	c.332 others(583): Show c.332+40367_332+40368insCTATCGATAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGAT AATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATT ATCTATCGATAGATAATACACATCTATGTATTATATATCGATAATACACA TCTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATAA TACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTAT ATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACA CATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATAT CGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATC TATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGAT AGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATG TATTATATATCGATAGATAATACACATCTATGTATTAC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(557): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG TGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	356	0.0028	564	c.91+ others(577): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	949141	C C	CCCCCCGG others(557): Show CCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCGGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	242	0.0041	564	c.360 others(583): Show c.360+30177_360+30178insAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCCACGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODAD3_chr19_11415605_11440121	11424997	G G	GTATATAT others(557): Show GTATATATGTATATATGTGTATATATACCTATGTGTATATATGTATATAT GTGTATATATACCTATGTGTATATATGTATATATGTGTATATATACCTAT GTGTATATATGTATATATGTGTATATATACCTATGTGTATATATACATAT GTGTATATATACCTATGTGTATATATGTATATATGTGTATATATACCTAT GTGTATATATGTATATATGTGTATATATACCTATGTGTATATATGTATAT ATGTGTATATATACCTATGTGTATATATGTATATATGTGTATATATACCT ATGTGTATATATGTATATATGTGTATATATACCTATGTGTATATATACAT ATGTGTATATATACATATGTGTATATATACCTATGTGTATATATACATAT GTGTATATATACCTATGTGTATATATACATATGTGTATATATACCTATGT GTATATATACATATGTGTATATATACCTATGTGTATATATACATATGTGT ATATATACATATGTGTATATATACCTATGTGTATATGTATATATGTGTAT ATATACCTATGCGTA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	398	0.0025	564	c.964 others(579): Show c.964-969_964-968insTACGCATAGGTATATATACACATATATACA TATACACATAGGTATATATACACATATGTATATATACACATATGTATATA TACACATAGGTATATATACACATATGTATATATACACATAGGTATATATA CACATATGTATATATACACATAGGTATATATACACATATGTATATATACA CATAGGTATATATACACATATGTATATATACACATATGTATATATACACA TAGGTATATATACACATATATACATATATACACATAGGTATATATACACA TATATACATATATACACATAGGTATATATACACATATATACATATATACA CATAGGTATATATACACATATATACATATATACACATAGGTATATATACA CATATATACATATATACACATAGGTATATATACACATATGTATATATACA CATAGGTATATATACACATATATACATATATACACATAGGTATATATACA CATATATACATATATACACATAGGTATATATACACATATATACATATATA CACATAGGTATATATACACATATATACATATATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(557): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCCCATACACACTGGCACACACGTACACACACATGAGCACATGTGC ACACATGCACATACACACTGGCACACACGTACACACACATGCACACATGA GCACATGTGCACACATGCACATACATACCGGCACACGTACACACATGCAC ACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	350	0.0029	564	c.-25 others(575): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACA CATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACA CATGAGCACATGTGCACACATGCACATACACACTGGCACACACGTACACA CACATGCACACATGAGCACATGTGCACACATGCACATACATACCGGCACA CGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(557): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAGC ACATGTGCACACATGCACATACACACTGGCACACACGTACGCACACATGA GCACATGTGCACACATGCACATACATACCGGCACACGTACACACATGCAC ACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	350	0.0029	564	c.-25 others(575): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACA CATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACA CATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACA CGTACGCACACATGAGCACATGTGCACACATGCACATACATACCGGCACA CGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(557): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCACCTCCCCACT CCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCAA CCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCAC TCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTCC CATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCAC TCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCCA TCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCAC ACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCTA ACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTAC TCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCACC TCCCACCCCCATCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCCT ACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	354	0.0028	564	c.65 others(575): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCCC CACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCAT CCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCAA CCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCAT TCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCC TCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAACC CCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACCC CCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCCA TCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTAC TCCCAACCCCCCACCTCCCACCCCCATCCCTACTCCCATCCCCCCACCTC CCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(557): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCAC TCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCCA TCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCAC ACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCTA ACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTAC TCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCACC TCCCACCCCCATCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCCT ACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	354	0.0028	564	c.65 others(575): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCATCCCCCCACCTCCCACCCCACCCCTACTCCCAT TCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCC TCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAACC CCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACCC CCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCCA TCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTAC TCCCAACCCCCCACCTCCCACCCCCATCCCTACTCCCATCCCCCCACCTC CCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(557): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCAC ACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCTA ACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTAC TCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCACC TCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCCT ACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 NA19240.hp2 HG02895.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0229 a0001c0001t0003g0190 a0001c0001t0003g0229	2	354	0.0057	564	c.65 others(575): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCACTTCCCACCCCACCCCTACTCCCAACC CCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACCC CCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCCA TCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTAC TCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACCTC CCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(557): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCCACCACCATCTCCCCCACCCCTACTCCC AACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCC ACTCCCACCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCACCTCCACTC CCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCCATC CCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCACAC CCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCTAAC CCCTCACCTGCACCACACCCATCCCTACTCCCCATCCCCCCACCCCTACT CCCAACCCCTCACCTGCACCACAACCCACCCCTACTCCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATACCCCACCTCCCCTTTCCCACCCCT ACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	354	0.0028	564	c.65 others(575): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCCACCACCATCTCC CCCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCC ATCCCCCCACCTCCCACTCCCACCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCACCTCCCACCCCACCCCTACTCCCAT TCCCCACCTCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTC ATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCC TCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCC ACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCCCAT CCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACAACCCACCCCTAC TCCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATACCCCACCTC CCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(557): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	436	0.0023	564	c.-26 others(575): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(557): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGTGGGGGGGGCTCGC GGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTGGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0150 a0001c0002t0003g0150	1	358	0.0028	564	c.143 others(579): Show c.143-267_143-266insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG TGGGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTGG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGG GGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(557): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	250	0.0040	564	c.309 others(583): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)