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
SYN2_chr3_11999388_12197032	12095548	A A	AAAAAAAA others(304): Show AAAAAAAAAAAAAAAAAAAAAAAAACATTGGCCGGGCACGGTGGCTTACG CCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCA GGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAA TATTAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGACGACGCAGCA AGACTCCGTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0051 a0003c0003t0001g0051	1	264	0.0038	311	c.378 others(330): Show c.378-45079_378-45078insCATTGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGACGACGCAGCAA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAS2R19_chr12_11016619_11027620	11026424	T T	TGAAAGTA others(304): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGG TAGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02258.hp2 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	2	417	0.0048	311	c.-38 others(322): Show c.-3854_-3853insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCG GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCTTCAATTATACTTTC	TAS2R19	ENSG00000212124.2	transcript	ENST00000390673.2	protein_coding		3805		chr12	TogoVar
TAS2R19_chr12_11016619_11027620	11026424	T T	TGAAAGTA others(304): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02630.hp1 HG03195.hp2 others(8): Show HG02135.hp1 HG02630.hp1 HG03195.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp2 HG04199.hp1 NA18940.hp2 NA18967.hp2 NA18994.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	11	417	0.0264	311	c.-38 others(322): Show c.-3854_-3853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC GGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCTTCAATTATACTTTC	TAS2R19	ENSG00000212124.2	transcript	ENST00000390673.2	protein_coding		3805		chr12	TogoVar
TAS2R31_chr12_11025387_11036407	11026424	T T	TGAAAGTA others(304): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGG TAGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02258.hp2 HG02922.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0000 a0003c0002t0001g0000	2	443	0.0045	311	c.39 others(322): Show c.3981_*3982insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCG GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCTTCAATTATACTTTC	TAS2R31	ENSG00000256436.1	transcript	ENST00000390675.2	protein_coding		3962		chr12	TogoVar
TAS2R31_chr12_11025387_11036407	11026424	T T	TGAAAGTA others(304): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02135.hp1 HG03195.hp2 others(9): Show HG00621.hp1 HG02135.hp1 HG03195.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG04199.hp1 NA18940.hp2 NA18967.hp1 NA18994.hp2 NA19067.hp1 NA19083.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0000 a0003c0002t0001g0000	12	443	0.0271	311	c.39 others(322): Show c.3981_*3982insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC GGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCTTCAATTATACTTTC	TAS2R31	ENSG00000256436.1	transcript	ENST00000390675.2	protein_coding		3962		chr12	TogoVar
TCF3_chr19_1604292_1657615	1628186	C C	CGGGGTGA others(304): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGGAAAGGGACAGCAGAGCTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGGACAG CAGAGCTCACAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0276 a0001c0003t0002g0276	1	352	0.0028	311	c.299 others(326): Show c.299-761_299-760insCTGTGAGCTCTGCTGTCCCCTTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGC TCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTT CCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGT GAGTTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF4_chr18_55217185_55593192	55478830	G G	GCAACAAA others(304): Show GCAACAAACAGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18954.hp2 HG00438.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0053 a0001c0002t0004g0094 a0001c0002t0002g0053 a0001c0002t0004g0094	2	122	0.0164	311	c.146 others(330): Show c.146-14694_146-14693insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAACTGTTTGTTG	TCF4	ENSG00000196628.20	transcript	ENST00000354452.8	protein_coding	3/19			chr18	TogoVar
TECTA_chr11_121096243_121196490	121185429	G G	GAATGAGT others(304): Show GAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAACGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAACGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0293 a0001c0003t0002g0293	1	348	0.0029	311	c.600 others(330): Show c.6000-2331_6000-2330insCGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAACGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAA TGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1273479	A A	ACATCAGA others(304): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACC GCCATCCACAGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	392	0.0026	311	c.228 others(330): Show c.2287-1200_2287-1199insACTGTGGATGGCGGTTGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273679	A A	ACGACCGC others(304): Show ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCCGTGATCGACCGCCATCCACAGTCACCA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCGT GATCGACCACCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCA CCATCCACAGTCACCACACATCAGACCCCTGTGACCGACTGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCCGTGAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0190 a0001c0008t0002g0190	1	392	0.0026	311	c.228 others(330): Show c.2287-1400_2287-1399insATCACGGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTC GGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGG GGTCTGATGTGTGGTGACTGTGGATGGTGGTCGATCACGGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGATCACGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS2_chr6_169210785_169258846	169242883	C C	CTCCCACC others(304): Show CTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCT TCCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTT CCCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTT CCCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTC CCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCC CACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCC ACATTCCCACCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02615.hp1 HG02809.hp1 others(7): Show HG00735.hp2 HG02615.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03139.hp2 HG03471.hp2 HG06807.hp1 NA18522.hp2	a0002 a0003 a0002 a0003	a0002c0010 a0003c0012 a0002c0010 a0003c0012	a0002c0010t0009 a0003c0012t0007 a0002c0010t0009 a0003c0012t0007	a0002c0010t0009g0023 a0002c0010t0009g0024 a0002c0010t0009g0204 others(3): Show a0002c0010t0009g0023 a0002c0010t0009g0024 a0002c0010t0009g0204 a0003c0012t0007g0006 a0003c0012t0007g0041 a0003c0012t0007g0042	10	396	0.0253	311	c.695 others(326): Show c.695-926_695-925insAGGTGGGAATGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGG AAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGG AAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAG CAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAA GATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAG GTGGGAGTGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	377501	G G	GCCCCACC others(304): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCC CGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTACCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCCCCCGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	370	0.0027	311	c.-15 others(322): Show c.-1532_-1531insTACGGGGGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACGG GGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGTACGGGGGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1476		chr19	TogoVar
TMEM245_chr9_109010135_109124947	109036143	T T	TAAAAAAA others(304): Show TAAAAAAAAAAAACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	422	0.0024	311	c.239 others(326): Show c.2399+62_2399+63insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCGTTTTTTTTTTTT	TMEM245	ENSG00000106771.13	transcript	ENST00000374586.8	protein_coding	16/17			chr9	TogoVar
TMX1_chr14_51235247_51262655	51252268	T T	TAAAGAAA others(304): Show TAAAGAAATCTTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp1 others(36): Show HG00140.hp1 HG00140.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02615.hp1 HG02683.hp1 HG02738.hp2 HG03017.hp1 HG03490.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 NA18950.hp2 NA18993.hp1 NA19065.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019	a0001c0001t0004g0004 a0001c0001t0004g0027 a0001c0001t0004g0028 others(8): Show a0001c0001t0004g0004 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0007g0004 a0001c0001t0018g0004 a0001c0001t0019g0004	39	426	0.0916	311	c.665 others(328): Show c.665-2059_665-2058insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAGAAATCTTTCC	TMX1	ENSG00000139921.13	transcript	ENST00000457354.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMX1_chr14_51235247_51262655	51252275	A A	ATCTTTCC others(304): Show ATCTTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	426	0.0024	311	c.665 others(328): Show c.665-2059_665-2058insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAGAAGTCTTTCC	TMX1	ENSG00000139921.13	transcript	ENST00000457354.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
TNFRSF18_chr1_1198508_1211592	1201946	G G	GAGCCCAG others(304): Show GAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCC CCCAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAG CCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCGGAGCCCAG TACCCAGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	386	0.0026	311	c.18 others(322): Show c.1897_*1898insGGGGGCTGGGTACTGGGCTCCGGGCTGGGTACTG GGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTCCGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGC TGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGC TGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGT ACTGGGCTCGGGGCTGGGTACTGGGCT	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1561		chr1	TogoVar
TOMM7_chr7_22807974_22827849	22813858	T T	TAAAAATG others(304): Show TAAAAATGTAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG03098.hp2 others(2): Show HG00438.hp1 HG00639.hp2 HG03098.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0088 a0001c0001t0001g0018 a0001c0001t0001g0088	5	420	0.0119	311	c.153 others(326): Show c.153-674_153-673insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTGGGCTACATTTTT	TOMM7	ENSG00000196683.12	transcript	ENST00000358435.9	protein_coding	2/2			chr7	TogoVar
TOMM7_chr7_22807974_22827849	22813860	A A	AAAATGTA others(304): Show AAAATGTAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC GGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18967.hp2 NA18941.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0118 a0001c0001t0001g0119	2	420	0.0048	311	c.153 others(326): Show c.153-676_153-675insCTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGGGCTACATTT	TOMM7	ENSG00000196683.12	transcript	ENST00000358435.9	protein_coding	2/2			chr7	TogoVar
TPCN2_chr11_69043932_69095597	69069550	C C	CTGGGAGC others(304): Show CTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGG ACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGT CCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTG ACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTTACCGCAGTGGG AGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAACGT CTGAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGG AAGTGACTGCAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02615.hp1 others(3): Show HG02451.hp1 HG02559.hp2 HG02615.hp1 HG03139.hp2 HG03540.hp1 HG06807.hp2	a0004 a0025 a0004 a0025	a0004c0015 a0004c0016 a0025c0040 a0004c0015 a0004c0016 a0025c0040	a0004c0015t0014 a0004c0016t0014 a0025c0040t0014 a0004c0015t0014 a0004c0016t0014 a0025c0040t0014	a0004c0015t0014g0051 a0004c0015t0014g0052 a0004c0015t0014g0053 others(3): Show a0004c0015t0014g0051 a0004c0015t0014g0052 a0004c0015t0014g0053 a0004c0016t0014g0049 a0004c0016t0014g0050 a0025c0040t0014g0054	6	404	0.0149	311	c.830 others(326): Show c.830-764_830-763insCTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTTACCGCAGT GGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAA CGTCTGAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACTGCAATGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACC GCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGC AGGACCGTCTGAGTCCTAGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069550	C C	CTGGGAGC others(304): Show CTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGG ACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGT CCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTG ACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGG AGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGT CTGAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGG AAGTGACCGCAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp1 HG02976.hp1 others(3): Show HG01884.hp2 HG02886.hp1 HG02976.hp1 HG03516.hp1 NA19030.hp1 NA20300.hp1	a0004 a0010 a0004 a0010	a0004c0008 a0010c0014 a0004c0008 a0010c0014	a0004c0008t0013 a0004c0008t0031 a0004c0008t0034 others(1): Show a0004c0008t0013 a0004c0008t0031 a0004c0008t0034 a0010c0014t0013	a0004c0008t0013g0194 a0004c0008t0013g0197 a0004c0008t0031g0195 others(3): Show a0004c0008t0013g0194 a0004c0008t0013g0197 a0004c0008t0031g0195 a0004c0008t0034g0185 a0010c0014t0013g0198 a0010c0014t0013g0199	6	404	0.0149	311	c.830 others(326): Show c.830-842_830-841insGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC CGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCC TAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGCAAGTGAC ACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAATGGGAGC AGGACCGTCTGAGTCCTAGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069550	C C	CTGGGAGC others(304): Show CTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGG ACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGT CCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTG ACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGG AGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGT CTCAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGG AAGTGACCGCAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0033 a0004c0006t0033	a0004c0006t0033g0207 a0004c0006t0033g0207	1	404	0.0025	311	c.830 others(326): Show c.830-842_830-841insGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC CGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCC TAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTCAGTCCTAGCAAGTGAC ACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAATGGGAGC AGGACCGTCTGAGTCCTAGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069550	C C	CTGGGAGC others(304): Show CTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGG ACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGT CCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTT ACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGG AGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGT CTCAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGG AAGTGACCGCAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG02897.hp1 HG02145.hp1 HG02895.hp2 HG02897.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0019 a0004c0006t0020 a0004c0006t0019 a0004c0006t0020	a0004c0006t0019g0270 a0004c0006t0020g0047 a0004c0006t0019g0270 a0004c0006t0020g0047	3	404	0.0074	311	c.830 others(326): Show c.830-842_830-841insGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTTACCGCAGTGGGAGCAGGAC CGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCC TAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTCAGTCCTAGCAAGTGAC ACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAATGGGAGC AGGACCGTCTGAGTCCTAGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069550	C C	CTGGGAGC others(304): Show CTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGG ACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGT CCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTT ACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGG AGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGT CTCAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGG AAGTGACCGCAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02895.hp1 others(9): Show HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp1 NA19240.hp1	a0004 a0004	a0004c0011 a0004c0013 a0004c0031 a0004c0011 a0004c0013 a0004c0031	a0004c0011t0012 a0004c0013t0015 a0004c0031t0012 a0004c0011t0012 a0004c0013t0015 a0004c0031t0012	a0004c0011t0012g0201 a0004c0011t0012g0203 a0004c0011t0012g0204 others(8): Show a0004c0011t0012g0201 a0004c0011t0012g0203 a0004c0011t0012g0204 a0004c0011t0012g0205 a0004c0011t0012g0206 a0004c0011t0012g0210 a0004c0013t0015g0038 a0004c0013t0015g0208 a0004c0013t0015g0209 a0004c0013t0015g0211 a0004c0031t0012g0202	12	404	0.0297	311	c.830 others(326): Show c.830-842_830-841insGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTTACCGCAGTGGGAGCAGGAC CGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCC TAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTCAGTCCTAGCAAGTGAC ACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAATGGGAGC AGGACCGTCTGAGTCCTAGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069664	G G	GCAGTGGG others(304): Show GCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGC AGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTG AGTCCTAGCAAGTGACACAGGGGGAGCAGGACTGTCTGAGTCCTAGCAAG TGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACTGCAATG GGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACC GTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00735.hp2 others(21): Show HG00099.hp1 HG00323.hp1 HG00735.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG02148.hp2 HG02155.hp1 HG02735.hp2 HG02738.hp1 HG03491.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0006 a0008 a0013 others(1): Show a0006 a0008 a0013 a0024	a0006c0007 a0006c0030 a0008c0010 others(2): Show a0006c0007 a0006c0030 a0008c0010 a0013c0043 a0024c0039	a0006c0007t0006 a0006c0007t0021 a0006c0030t0006 others(4): Show a0006c0007t0006 a0006c0007t0021 a0006c0030t0006 a0008c0010t0006 a0008c0010t0024 a0013c0043t0025 a0024c0039t0006	a0006c0007t0006g0004 a0006c0007t0006g0168 a0006c0007t0006g0171 others(16): Show a0006c0007t0006g0004 a0006c0007t0006g0168 a0006c0007t0006g0171 a0006c0007t0006g0172 a0006c0007t0006g0173 a0006c0007t0006g0176 a0006c0007t0006g0177 a0006c0007t0006g0178 a0006c0007t0006g0188 a0006c0007t0021g0036 a0006c0030t0006g0167 a0008c0010t0006g0025 a0008c0010t0006g0100 a0008c0010t0006g0101 a0008c0010t0006g0102 a0008c0010t0006g0103 a0008c0010t0024g0025 a0013c0043t0025g0104 a0024c0039t0006g0174	24	404	0.0594	311	c.830 others(326): Show c.830-725_830-724insGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGCAAGTGACACAGGG GGAGCAGGACTGTCTGAGTCCTAGCAAGTGACCGCAGTGGGAGCAGGACC GTCTGAGTCCTAGGAAGTGACTGCAATGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACC GCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCACAGTGGGAGC AGGACCGTCTGAGTCCTAGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069797	C C	CGTCTCAG others(304): Show CGTCTCAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACCGCAATGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACC GCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGC AGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTG AGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGT GGAAGCAGGACT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0019 a0004c0023t0019	a0004c0023t0019g0271 a0004c0023t0019g0271	1	404	0.0025	311	c.830 others(326): Show c.830-629_830-628insCAGTCCTAGCAAGTGACACAGGGGGAGCAG GACCGTCTGAGTCCTAGGAAGTGACCGCAATGGGAGCAGGACCGTCTGAG TCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGT GACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGG GAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCG TCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTA GGAAGTGACCGCAGTGGAAGCAGGACTGTCT	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507436	T T	TACGTGTA others(304): Show TACGTGTATACACGTGTATACACGTGTATACGTGTATACACGTGTATACA CGTGTATACGTGTATACGTGTGTATACGTGTATACGTGTATACGTGTGTA TACATGTATACGTGTATACGTGTGTATACATGTATACGTGTATACGTGTG TATACATGTATACGTGTATACGTGTGTATACATGTGTATACGTGTATACG TGTGTATACATGTGTATACGTGTATACGTGTGTATACATGTGTATATGTG TATACGTGTGTATACATGTATACGTGTATACGTGTGTATACATGTATATG TGTATACGTGTG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	388	0.0026	311	c.-23 others(328): Show c.-23+2611_-23+2612insCACACGTATACACATATACATGTATACA CACGTATACACGTATACATGTATACACACGTATACACATATACACATGTA TACACACGTATACACGTATACACATGTATACACACGTATACACGTATACA CATGTATACACACGTATACACGTATACATGTATACACACGTATACACGTA TACATGTATACACACGTATACACGTATACATGTATACACACGTATACACG TATACACGTATACACACGTATACACGTATACACGTGTATACACGTGTATA CACGTATACACGTGTATACACGTGTATACACGT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909183	T T	TAAATATT others(304): Show TAAATATTTGTATATTTATATTTTATATGAAATATAAATATTTGTATATT TATATTTTATATGAAATATAAATATTTGTATATTTATATTTTATATGAAA TATAAATATTTGTATATTTATATTTTATATGAAATATAAATATTTGTATA TTATATATTTTATGTGAAATATAAATATATAAATATTTGTATATTATATA TTTTATATAAAATATATAATATATAAATATTTGTATATTATATATTTTAT ATAAAATATATAATATACAAATATTTGTATATTATATATTTTATATAAAA TATATAATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0037 a0004c0005t0004g0037	1	208	0.0048	311	c.24 others(322): Show c.2403_*2404insGTATATTATATATTTTATATAAAATATATAATAT ACAAATATTTGTATATTATATATTTTATATAAAATATATAATATACAAAT ATTTATATATTATATATTTTATATAAAATATATAATATACAAATATTTAT ATATTTATATTTCACATAAAATATATAATATACAAATATTTATATTTCAT ATAAAATATAAATATACAAATATTTATATTTCATATAAAATATAAATATA CAAATATTTATATTTCATATAAAATATAAATATACAAATATTTATATTTC ATATAAAATATAAATATACAAATATTT	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2225		chr11	TogoVar
TRIM49D2_chr11_89919064_89938063	89935248	A A	ATATTTGT others(304): Show ATATTTGTATATTTATATTTTATATAAATATATAATATACAAATATTTGT ATATTTATATTTTATATAAATATATAATATACAAATATTTGTATATTTAT ATTTTATATAAATATATAATATACAAATATTTGTATATTTATATTTTATA TAAAATATATAATATACAAATATTTGTATATTTATATTTTATATAAAATA TATAATATACAAATATTTGTATATTATATATTTTATATAAAATATATAAT ATACAAATATTTGTATATTATATATTTTATATAAAATATATAATATACAA ATATTTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0071 a0002c0006t0001g0071	1	256	0.0039	311	c.23 others(322): Show c.2363_*2364insTATTTGTATATTTATATTTTATATAAATATATAA TATACAAATATTTGTATATTTATATTTTATATAAATATATAATATACAAA TATTTGTATATTTATATTTTATATAAATATATAATATACAAATATTTGTA TATTTATATTTTATATAAAATATATAATATACAAATATTTGTATATTTAT ATTTTATATAAAATATATAATATACAAATATTTGTATATTATATATTTTA TATAAAATATATAATATACAAATATTTGTATATTATATATTTTATATAAA ATATATAATATACAAATATTTATATAT	TRIM49D2	ENSG00000233802.8	transcript	ENST00000623787.3	protein_coding		2186		chr11	TogoVar
TSC2_chr16_2042985_2094491	2069486	T T	TTTTTTTT others(304): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	318	0.0031	311	c.171 others(328): Show c.1717-957_1717-956insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTT	TSC2	ENSG00000103197.19	transcript	ENST00000219476.9	protein_coding	16/41		INFO_REALIGN_3_PRIME	chr16	TogoVar
TTLL11_chr9_121810674_122098308	121971182	C C	CTGCCCGG others(304): Show CTGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCC CGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	174	0.0058	311	c.148 others(330): Show c.1481+2826_1481+2827insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGG GCAGGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCCAGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCA	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TUBE1_chr6_112065663_112092482	112074313	T T	TAAAACAA others(304): Show TAAAACAAACTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTAGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	420	0.0024	311	c.953 others(326): Show c.953+396_953+397insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCTAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGAGAGTTTGTTTT	TUBE1	ENSG00000074935.14	transcript	ENST00000368662.10	protein_coding	9/11			chr6	TogoVar
UBE2E3_chr2_180975605_181068425	181016003	T T	TAAAATTT others(304): Show TAAAATTTGTTCAATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp1 HG02647.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0056 a0001c0001t0001g0020 a0001c0001t0001g0056	2	338	0.0059	311	c.245 others(330): Show c.245+31926_245+31927insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAATTTGTTCAATTC	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2N_chr12_93400684_93446947	93418523	A A	ACTGACTG others(304): Show ACTGACTGCCTATTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp1 others(16): Show HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 others(6): Show a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0001t0046 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082	a0001c0001t0022g0018 a0001c0001t0022g0265 a0001c0001t0023g0261 others(14): Show a0001c0001t0022g0018 a0001c0001t0022g0265 a0001c0001t0023g0261 a0001c0001t0023g0262 a0001c0001t0023g0264 a0001c0001t0023g0273 a0001c0001t0024g0263 a0001c0001t0024g0266 a0001c0001t0024g0267 a0001c0001t0024g0269 a0001c0001t0033g0270 a0001c0001t0033g0272 a0001c0001t0046g0268 a0001c0001t0079g0285 a0001c0001t0080g0283 a0001c0001t0081g0284 a0001c0001t0082g0282	19	372	0.0511	311	c.31- others(326): Show c.31-7225_31-7224insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAGAAAATAGGCAGTCAG	UBE2N	ENSG00000177889.10	transcript	ENST00000318066.7	protein_coding	1/3			chr12	TogoVar
UBR2_chr6_42559029_42698505	42658506	T T	TAAGAGTC others(304): Show TAAGAGTCTTTTCTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0009 a0004c0010t0009	a0004c0010t0009g0005 a0004c0010t0009g0005	1	342	0.0029	311	c.306 others(328): Show c.3064-125_3064-124insCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAGAGTCTTTTCTCT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	28/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UGT2A1_chr4_69583417_69658247	69611288	T T	TCCAGCTA others(304): Show TCCAGCTATTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18985.hp1 NA18982.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0140 a0001c0001t0001g0056 a0001c0001t0001g0140	2	376	0.0053	311	c.848 others(330): Show c.848-11895_848-11894insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAGAATAGCTGG	UGT2A1	ENSG00000173610.13	transcript	ENST00000286604.9	protein_coding	3/6			chr4	TogoVar
UGT2A2_chr4_69583417_69644642	69611288	T T	TCCAGCTA others(304): Show TCCAGCTATTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18985.hp1 NA18982.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0072 a0001c0001t0001g0046 a0001c0001t0001g0072	2	378	0.0053	311	c.743 others(330): Show c.743-11895_743-11894insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAGAATAGCTGG	UGT2A2	ENSG00000271271.6	transcript	ENST00000604629.6	protein_coding	1/5			chr4	TogoVar
UNC13B_chr9_35157009_35410335	35245162	T T	TTGTACTT others(304): Show TTGTACTTTTCGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03834.hp1 HG03688.hp2 HG03834.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0004 a0014c0014t0004	a0014c0014t0004g0018 a0014c0014t0004g0019 a0014c0014t0004g0018 a0014c0014t0004g0019	2	224	0.0089	311	c.468 others(328): Show c.468+1813_468+1814insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGTACTTTTCGTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(304): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATATTATATATAGTATATATGTAATATATATACTATATATATTATATA TAGTATATATGTAATATATATACTATATATAGTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATACTATATATAGTATATATGTAAT ATATATACTATATATAGTATATATGTAATATATACTATATATAGTATATA TGTAATATATATACTATATATAGTATATATGTAATATATATACTATATAT AGTATATATGTA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	188	0.0053	311	c.458 others(330): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATACTATAT ATAGTATATATGTAATATATATACTATATATAGTATATATGTAATATATA CTATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAA TATATATACTATATATAGTATATATGTAATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
USH2A_chr1_215617891_216428448	216265176	T T	TAAAACAG others(304): Show TAAAACAGGTGCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGC CGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp1 HG06807.hp1 others(1): Show HG02451.hp2 HG03486.hp1 HG06807.hp1 NA20129.hp1	a0006 a0012 a0015 others(1): Show a0006 a0012 a0015 a0020	a0006c0051 a0012c0061 a0015c0060 others(1): Show a0006c0051 a0012c0061 a0015c0060 a0020c0057	a0006c0051t0001 a0012c0061t0002 a0015c0060t0001 others(1): Show a0006c0051t0001 a0012c0061t0002 a0015c0060t0001 a0020c0057t0001	a0006c0051t0001g0065 a0012c0061t0002g0066 a0015c0060t0001g0067 others(1): Show a0006c0051t0001g0065 a0012c0061t0002g0066 a0015c0060t0001g0067 a0020c0057t0001g0064	4	74	0.0541	311	c.197 others(332): Show c.1972-14079_1972-14078insTTTTTTTTTTTTTTTTTTGAGACG GAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC TGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTTGCACCTGTTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	11/71			chr1	TogoVar
VAV3_chr1_107566161_107970180	107599844	A A	ACTGAACT others(304): Show ACTGAACTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp1 HG01255.hp2 others(3): Show HG00639.hp2 HG01169.hp1 HG01255.hp2 HG02559.hp1 HG02602.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0021 a0002c0002t0002	a0001c0001t0002g0145 a0001c0001t0003g0035 a0001c0001t0004g0064 others(3): Show a0001c0001t0002g0145 a0001c0001t0003g0035 a0001c0001t0004g0064 a0001c0001t0017g0121 a0001c0001t0021g0057 a0002c0002t0002g0154	6	210	0.0286	311	c.222 others(330): Show c.2220+2552_2220+2553insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAGAATAGTTCAG	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	24/26			chr1	TogoVar
VAV3_chr1_107566161_107970180	107599844	A A	ACTGAACT others(304): Show ACTGAACTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00642.hp2 others(35): Show HG00423.hp2 HG00544.hp1 HG00642.hp2 HG00673.hp2 HG01099.hp1 HG01243.hp1 HG01346.hp1 HG01928.hp2 HG02083.hp2 HG02132.hp2 HG02293.hp2 HG02451.hp2 HG02572.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03654.hp2 HG03710.hp1 HG03942.hp1 NA18522.hp1 NA18939.hp1 NA18951.hp1 NA18952.hp1 NA18964.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18981.hp2 NA18983.hp2 NA19004.hp1 NA19009.hp2 NA19072.hp2 NA19084.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0012 a0002c0002 others(3): Show a0001c0001 a0001c0012 a0002c0002 a0002c0003 a0003c0006 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0012t0008 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0015 a0002c0002t0016 a0002c0003t0002 a0002c0003t0003 a0002c0003t0008 a0002c0003t0010 a0003c0006t0010 a0004c0005t0002	a0001c0001t0002g0159 a0001c0001t0002g0167 a0001c0001t0002g0182 others(35): Show a0001c0001t0002g0159 a0001c0001t0002g0167 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0006g0011 a0001c0001t0008g0195 a0001c0001t0008g0196 a0001c0001t0012g0018 a0001c0001t0012g0025 a0001c0001t0015g0092 a0001c0012t0008g0130 a0002c0002t0002g0134 a0002c0002t0002g0199 a0002c0002t0002g0205 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0091 a0002c0002t0003g0093 a0002c0002t0003g0100 a0002c0002t0009g0007 a0002c0002t0015g0038 a0002c0002t0016g0087 a0002c0003t0002g0133 a0002c0003t0002g0155 a0002c0003t0003g0072 a0002c0003t0003g0099 a0002c0003t0008g0110 a0002c0003t0008g0172 a0002c0003t0010g0026 a0003c0006t0010g0017 a0004c0005t0002g0165 a0004c0005t0002g0179	38	210	0.1810	311	c.222 others(330): Show c.2220+2552_2220+2553insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAGAATAGTTCAG	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	24/26			chr1	TogoVar
VCX_chrX_7838171_7849143	7844209	G G	GGGGGGGG others(304): Show GGGGGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGTGTGGGGAGGGAGGGAG GGGGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0001 a0005c0005t0004g0001	1	341	0.0029	311	c.19 others(320): Show c.193_*194insGGGGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGTGTG GGGAGGGAGGGAGGGGGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		67		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11605172	G G	GCCCACCC others(304): Show GCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCC CCCACGCCCACCCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCAT CTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTC TGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAAT CCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCC CCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCC CCACGCCCACCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0261 a0005c0008t0002g0261	1	388	0.0026	311	c.83- others(326): Show c.83-3151_83-3150insGGGTGGGCGTGGGGGCGCTTTGGAAGATGG AATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGC TTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGG GCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGG GGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTG TGGAGGATTGGGGGTGGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGA ATTCACAGAGCTGTGGAGGATTGGGGGTGGG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VIPAS39_chr14_77421675_77462601	77460457	T T	TAAAGAAG others(304): Show TAAAGAAGGGTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	244	0.0041	311	c.-29 others(322): Show c.-2964_-2963insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGCACCCTTCTTT	VIPAS39	ENSG00000151445.16	transcript	ENST00000557658.6	protein_coding		2857		chr14	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(304): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	328	0.0031	311	c.802 others(328): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS13C_chr15_61847389_62065447	62026066	T T	TGAGATAT others(304): Show TGAGATATGTTGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0136 a0003c0023t0001g0136	1	352	0.0028	311	c.449 others(328): Show c.449-2222_449-2221insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAACAACATATCTC	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	6/84			chr15	TogoVar
VSIG10L_chr19_51326541_51347139	51345934	C C	CCCTATAG others(304): Show CCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGAT GCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCCTAT AGGCTGAGATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTG AACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGA GATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTC CCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATG CGCTGAACCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0017 a0000c0004t0017	a0000c0004t0017g0068 a0000c0004t0017g0068	1	452	0.0022	311	c.-38 others(322): Show c.-3811_-3810insCAGGGTTCAGCGCATCATCTCAGCCTATAGGGAG GGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCA GCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGGTTCAG CGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATA GGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATC ATCTCAGCCTATAGGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGG GTTCAGCGCATCATCTCAGCCTATAGG	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3796		chr19	TogoVar
VSIG10L_chr19_51326541_51347139	51345965	C C	CCCTATAG others(304): Show CCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGAT GCGCTGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTAT AGGCTGAGATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTG AACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGA GATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTC CCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATG CGCTGAACCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02486.hp2 HG02922.hp1 others(1): Show HG01099.hp1 HG02486.hp2 HG02922.hp1 HG03139.hp1	a0000 a0000	a0000c0001 a0000c0009 a0000c0001 a0000c0009	a0000c0001t0001 a0000c0009t0001 a0000c0009t0015 a0000c0001t0001 a0000c0009t0001 a0000c0009t0015	a0000c0001t0001g0004 a0000c0009t0001g0016 a0000c0009t0015g0053 a0000c0001t0001g0004 a0000c0009t0001g0016 a0000c0009t0015g0053	4	452	0.0089	311	c.-38 others(322): Show c.-3842_-3841insCAGGGTTCAGCGCATCATCTCAGCCTATAGGGAG GGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCA GCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGGTTCAG CGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATA GGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGG GTTCAGGGCATCATCTCAGCCTATAGG	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3827		chr19	TogoVar
VSIG10L_chr19_51326541_51347139	51345973	G G	GCTGAGAT others(304): Show GCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAA CCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGACTGAG ATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCC CTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGACTGAGATGATGC GCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGG CTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAAC CCTGCCTATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18986.hp2 NA19009.hp1 others(2): Show NA18957.hp1 NA18986.hp2 NA19009.hp1 NA19070.hp2 NA19088.hp2	a0000 a0000	a0000c0010 a0000c0010	a0000c0010t0005 a0000c0010t0005	a0000c0010t0005g0015 a0000c0010t0005g0046 a0000c0010t0005g0015 a0000c0010t0005g0046	5	452	0.0111	311	c.-38 others(322): Show c.-3850_-3849insTCTATAGGCAGGGTTCAGCGCATCATCTCAGCCT ATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCA TCATCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGTCTATAGGGA GGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTC AGCCTATAGGGAGGGTTCTGCGCATCATCTCAGTCTATAGGGAGGGTTCA GCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTA TAGGGAGGGTTCAGGGCATCATCTCAG	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3835		chr19	TogoVar
VSIG10L_chr19_51326541_51347139	51345973	G G	GCTGAGAT others(304): Show GCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAA CCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAG ATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCC CTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGC GCAGAACCCTCCCTATAGGCTGAGATGATGCACTGAACCCTCCCTATAGG CTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAAC CCTGCCTATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA19080.hp2 NA18983.hp2 NA19080.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0001 a0000c0002t0001g0001	2	452	0.0044	311	c.-38 others(322): Show c.-3850_-3849insTCTATAGGCAGGGTTCAGCGCATCATCTCAGCCT ATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGTGCA TCATCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGA GGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTC AGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGGTTCA GCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTA TAGGGAGGGTTCAGGGCATCATCTCAG	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3835		chr19	TogoVar

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Search Results (Total: 10000 hits)