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
CRY1_chr12_106986364_107098549	107026147	T T	TATATAAC others(300): Show TATATAACATATATAACATATATATGTTATATATGTTATATATGTAATAT ATATTATATATATATTACATATATATATAAAATATATATATATATTACAT ATATATATAAAATATATATATATATTACATATATATATAAAATATATATA TATATTACATATATATATAAAATATATATATATATTACATATATATATAA AATATATATATATATTACATATATATATAAAATATATATATATATTACAT ATATATATAAAATATATATATATATTACATATATATATAAAATATATATA TATATTAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	320	0.0031	307	c.159 others(324): Show c.159-3956_159-3955insGTAATATATATATATATTTTATATATAT ATGTAATATATATATATATTTTATATATATATGTAATATATATATATATT TTATATATATATGTAATATATATATATATTTTATATATATATGTAATATA TATATATATTTTATATATATATGTAATATATATATATATTTTATATATAT ATGTAATATATATATATATTTTATATATATATGTAATATATATATATATT TTATATATATATGTAATATATATATAATATATATTACATATATAACATAT ATAACATATATATGTTATATATGTTATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CRYBG1_chr6_106355717_106577017	106365679	T T	TATTTTTT others(300): Show TATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA21309.hp2 HG02622.hp2 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0010c0013t0009 a0001c0001t0001 a0010c0013t0009	a0001c0001t0001g0042 a0010c0013t0009g0049 a0001c0001t0001g0042 a0010c0013t0009g0049	2	272	0.0074	307	c.173 others(324): Show c.173+4608_173+4609insTTTTTTTTTTTTTTGAGACGGAGTCTCA CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCACCGCGCCCGGCCATTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(300): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGGAGGGAGGGAG GAGGAGGGAGGGGGGAGGGGGAGGGGGGGAGTGGAGGGGAGAGGAGGGGG AGGGGAGAGGGAGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0034 a0034	a0034c0055 a0034c0055	a0034c0055t0034 a0034c0055t0034	a0034c0055t0034g0047 a0034c0055t0034g0047	1	126	0.0079	307	c.416 others(328): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCT CCACTCCCCCCCTCCCCCTCCCCCCTCCCTCCTCCTCCCTCCCTCCCCCC TCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCACAT CCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNK2A1_chr20_467498_548790	524275	G G	GAGCTGGG others(300): Show GAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTGCTCTTAGAGGCT GAGGCAGGGGAATCGCTTGAAACTCTCGAGAGGCGAAGGTTGTAGCAAGA TAACGCCATTGCATTCCAGCCTGGGAGACAGAGGGAGGCTCCTTCTCAAA AAAAAAAAAAAAAAAATTAATAAACAAATAAATAAAAGAGATACATCTAG GCCAGGTGTGGTGGCTCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCC AACACAGCGAAACCTCATCTCTACTTAAAAACAACAACAACAACAAAACA CAAAAATT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	316	0.0032	307	c.-11 others(326): Show c.-110+3351_-110+3657dupAATTTTTGTGTTTTGTTGTTGTTGTT GTTTTTAAGTAGAGATGAGGTTTCGCTGTGTTGGCCAGGCTGGTCTCAAA CTCCTGACCTCAAGTGAGCCACCACACCTGGCCTAGATGTATCTCTTTTA TTTATTTGTTTATTAATTTTTTTTTTTTTTTTTTTGAGAAGGAGCCTCCC TCTGTCTCCCAGGCTGGAATGCAATGGCGTTATCTTGCTACAACCTTCGC CTCTCGAGAGTTTCAAGCGATTCCCCTGCCTCAGCCTCTAAGAGCAGCTG GGACTACAGGCACGCACCACCACACCCAGCT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(300): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp1 HG03209.hp1 HG03579.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0271 a0004c0005t0002g0272 a0004c0005t0002g0271 a0004c0005t0002g0272	2	386	0.0052	307	c.-27 others(328): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNNBL1_chr20_37689030_37877118	37743951	T T	TGAACTTT others(300): Show TGAACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02293.hp1 NA18982.hp1 HG01943.hp2 HG02293.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	3	266	0.0113	307	c.327 others(324): Show c.327-2508_327-2507insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGAACTTTTT	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(300): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATATTT ATATATTATATGTATATTATGTATACATAATATATTATATATTATATGTA TATTATGTATACATAATATTTATATATTATATGTATATTATGTATACATA ATATTTATATATTATATGTATATTATGTATACATAATATTTATATATTAT ATGTATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19010.hp1 HG02132.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0262 a0001c0001t0003g0256 a0001c0001t0003g0262	2	344	0.0058	307	c.896 others(324): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAAATATTATGTATACATAATATACATATAATATATAATATA TTATGTATACATAATATACATATAATATATAAATATTATGTATACATAAT ATACATATAATATATAATATATTATGTATACATAATATACATATAATATA TAATATATTATGTATACATAATATACATATAATATATAATATATTATGTA TACATAATATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CXCL6_chr4_73831678_73843760	73842184	T T	TAATTATA others(300): Show TAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTTTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18955.hp2 NA18969.hp2 others(1): Show HG02155.hp1 NA18955.hp2 NA18969.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	444	0.0090	307	c.45 others(318): Show c.4543_*4544insAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTG	CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding		3425		chr4	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(300): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0040 a0001c0001t0011g0040	1	320	0.0031	307	c.546 others(324): Show c.546+3884_546+3885insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(300): Show GGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATC CCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAG GAAGACGA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	324	0.0031	307	c.340 others(324): Show c.340-1594_340-1593insGGAGGAGGCTGCCCGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGAT GGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725531	C C	CGAGCAGA others(300): Show CGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGA TCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAG AGGGAGAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0013 a0005c0010t0013	a0005c0010t0013g0243 a0005c0010t0013g0243	1	324	0.0031	307	c.340 others(324): Show c.340-1449_340-1448insAGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATC CCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAG GGAGATGAGCAGAGAGGGAGGAGGCTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725531	C C	CGAGCAGA others(300): Show CGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGG AGGGAGAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0222 a0001c0002t0010g0222	1	324	0.0031	307	c.340 others(324): Show c.340-1449_340-1448insAGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAG GGAGATGAGCAGAGAGGGAGGAGGCTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(300): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA19087.hp2 NA18962.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0146 a0002c0002t0001g0011 a0002c0002t0001g0146	2	367	0.0055	307	c.-42 others(318): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(300): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCC GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG CCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	370	0.0027	307	c.27 others(318): Show c.2765_*2766insAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG CGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGG CGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGC GGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAG GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGG GGAGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DIP2C_chr10_269201_694668	322927	T T	TTAGAACA others(300): Show TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGGCCGGCGTTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAGACCGG CGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAG AGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGA GACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAG ACCGGCGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	88	0.0114	307	c.392 others(326): Show c.3924+4078_3924+4079insGCGCCGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAACACTGGTCTCTCGCTGGAGCCCCGCA CCCCCGACTGACTGTTCTAACAACGCCGGTCTCTCGCTGGAGCCCCGCAC CCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGC CCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCG CCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGCCTCTCGC CGGAGCCCCGCACCCCCGACTGACTGTTCTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIRAS1_chr19_2709567_2726372	2713606	C C	CCCTCACT others(300): Show CCCTCACTTCCTACAACCCACCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCGTCCCTCCTCCACCCTTCATCCCATTCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCC ACCCGTCATCCCATTCCTCACTTCCTACAACCACCACCTCCTCCACCCTT CATCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0094 a0001c0002t0038g0094	1	412	0.0024	307	c.36 others(318): Show c.3603_*3604insATGGGATGAAGGGTGGAGGAGGTGGTGGTTGTAG GAAGTGAGGAATGGGATGACGGGTGGAGGAGGTGACGGGTGTAGGAAGTG AGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGAT GGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATG AAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGT GGAGGAGGGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAG GTGGTGGGTTGTAGGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		960		chr19	TogoVar
DLGAP2_chr8_732628_1713476	1298044	A A	ACACCACG others(300): Show ACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCA CGTGAGACGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGAC GGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGA GAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACG TGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAG GCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGA ACAGACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	307	c.106 others(326): Show c.106+39164_106+39165insCACGTGAGACAGGGAGGAGAAACGTG GCAGGCGTGAACAGACACCACGTGAGACGGAGGAGAAACGTGGCAGGCGT GAACAGACACCACGTGAGACGGAGGAGAAACGTGGCAGGCGTGAACAGAC ACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACG TGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGAC AGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAG GAGAAACGTGGCAGGCGTGAACAGACACCAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	31257188	T T	TAGAAGTG others(300): Show TAGAAGTGGGCGTCTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp1 NA18984.hp1 others(1): Show HG01934.hp1 HG01952.hp1 NA18984.hp1 NA19004.hp1	a0001 a0004 a0030 others(1): Show a0001 a0004 a0030 a0031	a0001c0001 a0004c0004 a0030c0037 others(1): Show a0001c0001 a0004c0004 a0030c0037 a0031c0047	a0001c0001t0001 a0004c0004t0001 a0030c0037t0005 others(1): Show a0001c0001t0001 a0004c0004t0001 a0030c0037t0005 a0031c0047t0005	a0001c0001t0001g0018 a0004c0004t0001g0087 a0030c0037t0005g0082 others(1): Show a0001c0001t0001g0018 a0004c0004t0001g0087 a0030c0037t0005g0082 a0031c0047t0005g0081	4	126	0.0318	307	c.928 others(326): Show c.9286+3766_9286+3767insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCGAGACGCCCACTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	63/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31452231	T T	TAAAAAAA others(300): Show TAAAAAAATAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0032 a0032	a0032c0036 a0032c0036	a0032c0036t0004 a0032c0036t0004	a0032c0036t0004g0011 a0032c0036t0004g0011	1	126	0.0079	307	c.893 others(326): Show c.8938-7605_8938-7604insTTTTTTTTTTTTTTGAGATGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGCTATTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAATATAT others(300): Show AAATATATATATATATATATATATACACATACATATACATATATACACAT ACATATACATATATACACATACATATACATATATACACATACATATACAT ATATACACATACATATATATATACATATATATACATATATATATACGTAT ATATATATACGTGTATATATATATACATATATATATACGTGTGTATATAT ATACACATATATATACACACATATATATATACACATATATATATATACAC ACATATATATATATACACATATATATATATACACATATATATATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0041 a0041	a0041c0036 a0041c0036	a0041c0036t0001 a0041c0036t0001	a0041c0036t0001g0087 a0041c0036t0001g0087	1	266	0.0038	307	c.730 others(326): Show c.7305+1447_7305+1448insATATATATATATATATATATATATGT GTATATATATATATGTGTATATATATATATGTGTGTATATATATATATGT GTATATATATATGTGTGTATATATATGTGTATATATATACACACGTATAT ATATATGTATATATATATACACGTATATATATATACGTATATATATATGT ATATATATGTATATATATATGTATGTGTATATATGTATATGTATGTGTAT ATATGTATATGTATGTGTATATATGTATATGTATGTGTATATATGTATAT GTATGTGTATATATATATATATATATATATT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(300): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0054 a0002c0006t0002g0054	1	210	0.0048	307	c.131 others(326): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC TGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DROSHA_chr5_31395494_31537093	31419943	T T	TAAAAACT others(300): Show TAAAAACTGTTAACTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACCGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp2 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0018 a0001c0007 a0001c0018	a0001c0007t0001 a0001c0018t0001 a0001c0007t0001 a0001c0018t0001	a0001c0007t0001g0299 a0001c0018t0001g0097 a0001c0007t0001g0299 a0001c0018t0001g0097	2	322	0.0062	307	c.352 others(326): Show c.3525+1328_3525+1329insTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACGGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTAAAGTTAACAGTTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	30/35			chr5	TogoVar
DST_chr6_56452996_56959830	56890108	C C	CAAAAACG others(300): Show CAAAAACGGCTCAAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAG CACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0001 a0001c0058t0001	a0001c0058t0001g0010 a0001c0058t0001g0010	1	84	0.0119	307	c.417 others(326): Show c.417+10312_417+10313insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGC TCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGGCTTGAGCCGTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	3/103			chr6	TogoVar
ECHDC2_chr1_52890910_52926740	52923161	T T	TAAAAAAA others(300): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0155 a0003c0004t0001g0156 a0003c0004t0001g0155 a0003c0004t0001g0156	2	314	0.0064	307	c.-14 others(318): Show c.-1489_-1488insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCCTTTTTTTTTTTTTT	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding		1422		chr1	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(300): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03927.hp2 HG00140.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0074 a0001c0001t0001g0075	2	428	0.0047	307	c.83+ others(320): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERC1_chr12_986223_1500931	1327205	G G	GAAAAGAA others(300): Show GAAAAGAAAAATACTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTGG TAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0064 a0002c0002t0064	a0002c0002t0064g0069 a0002c0002t0064g0069	1	162	0.0062	307	c.278 others(328): Show c.2780+37209_2780+37210insCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAAAATACTAG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132576199	T T	TTTTTTTT others(300): Show TTTTTTTTTCTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCAGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19043.hp2 HG02056.hp2 NA19043.hp2	a0001 a0008 a0001 a0008	a0001c0086 a0008c0027 a0001c0086 a0008c0027	a0001c0086t0009 a0008c0027t0011 a0001c0086t0009 a0008c0027t0011	a0001c0086t0009g0129 a0008c0027t0011g0183 a0001c0086t0009g0129 a0008c0027t0011g0183	2	348	0.0058	307	c.170 others(324): Show c.1702-589_1702-588insTTTTTTTTTTTTCTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTTTTTTTCTT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(300): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01515.hp2 others(5): Show HG00738.hp2 HG01099.hp1 HG01515.hp2 HG03710.hp1 NA18951.hp2 NA19056.hp2 NA19075.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0260 a0001c0003t0001g0262 others(5): Show a0001c0003t0001g0145 a0001c0003t0001g0260 a0001c0003t0001g0262 a0001c0003t0001g0264 a0001c0003t0001g0272 a0001c0003t0001g0278 a0001c0003t0001g0286 a0001c0003t0001g0292	8	370	0.0216	307	c.189 others(326): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXP1_chr3_70949708_71588728	71435801	G G	GAGGGACG others(300): Show GAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGA GGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGG AGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGG AAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGGAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGGAGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0010 a0001c0001t0020g0010	1	96	0.0104	307	c.-16 others(328): Show c.-168+57624_-168+57625insTCCTCCCCTCCCTCCGTCCCTTCC TCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTC CTTTTTTCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTTTTT CCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCTTCCC TCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FTCD_chr21_46131779_46160579	46145757	T T	TTCCCCCC others(300): Show TTCCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGC GCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCA ACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCT TCCCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCC TCCCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAA CAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAA CAGCGCCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	230	0.0044	307	c.109 others(322): Show c.1098+60_1098+61insGGGCGCTGTTGGGGGGAGGGCGCTGTTGGG GGGAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG CTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCG GGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGG GGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGC TGTTGGGGGGAGGGCGGGGAGGGGGGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(300): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	307	c.-32 others(318): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GIPR_chr19_45663221_45688722	45672002	A A	AGACACTA others(300): Show AGACACTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACC CAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAACCTCCGCCTCC CGGGTTCACGGCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTTAGTAGAGAAGG GGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC ACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCG CCCGGCCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	416	0.0024	307	c.280 others(322): Show c.280+616_280+617insATTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGC AACCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTT TTAGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACTGCGCCCGGCCTGACACT	GIPR	ENSG00000010310.9	transcript	ENST00000590918.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GLB1L3_chr11_134271379_134324564	134308199	C C	CCACTACC others(300): Show CCACTACCACCACCACCACCACCACCATCACCACCATCACCACCATCACC ATCACCACCACCACCATCATCACCATCACCACCACCACCACCATCACCAC CAAATACCACCACCACCACCACCATGTCCACCACCACTACCACCACCATC ACCATCACCATCACCACCACCACCACCATCACCATCACCATCATCACCAT CACCTCCACCACCACCACCACTATCACCACCATCACCATCAACACCATCA CCACCATCATCACCACCACCACCACCACCACCACCACCATCACCATCATC ACCATCAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0298 a0001c0002t0015g0298	1	422	0.0024	307	c.961 others(324): Show c.961+1008_961+1009insCCACCACCATCACCACCATCACCACCAT CACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCATCA CCACCAAATACCACCACCACCACCACCATGTCCACCACCACTACCACCAC CATCACCATCACCATCACCACCACCACCACCATCACCATCACCATCATCA CCATCACCTCCACCACCACCACCACTATCACCACCATCACCATCAACACC ATCACCACCATCATCACCACCACCACCACCACCACCACCACCATCACCAT CATCACCATCATCACTACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATAGTTA others(300): Show CATAGTTATATATTATATACATGTATATAACATATAGTTATATATTATAT ACATGTATATAACATAGTTATATATTATATACATGTATATAACATATAGT TATATATTATATACATGTATATAACATATAGTTATATATTATATACATGT ATATAACATATAGTTATATATTATATACATGTATATAACATATAGTTATA TATTATATACATGTATATAACATATAGTTATGTATATTATATACATGTAT ATAACATAGTTATATACATATAACTATATGTATATAATATATAGTACATG TATATAAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0074 a0001c0001t0010g0074	1	256	0.0039	307	c.183 others(326): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATAT ACATGTATATAATATATAACTATATGTTATATACATGTATATAATATATA ACTATATGTTATATACATGTATATAATATATAACTATATGTTATATACAT GTATATAATATATAACTATGTTATATACATGTATATAATATATAACTATA TGTTATATACATGTATATAATATATAACTAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(300): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01978.hp1 HG01981.hp1 others(7): Show HG01891.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG03017.hp1 HG03831.hp2 NA18953.hp2 NA18962.hp1 NA18993.hp2 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0225 a0001c0001t0001g0266 a0001c0001t0001g0276 others(7): Show a0001c0001t0001g0225 a0001c0001t0001g0266 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0340 a0002c0002t0001g0175 a0002c0002t0001g0284 a0002c0002t0001g0289	10	410	0.0244	307	c.-43 others(318): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(300): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGGCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	410	0.0024	307	c.-43 others(318): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15597524	C C	CTCATTTC others(300): Show CTCATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02970.hp2 HG01081.hp1 HG01884.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0047 a0001c0001t0001g0187 a0001c0001t0001g0188	3	428	0.0070	307	c.187 others(324): Show c.187-1101_187-1100insTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCTGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAGAAATGA	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HS3ST2_chr16_22809162_22921338	22818800	C C	CCTTCCTT others(300): Show CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCC TTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTC CCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTT CCTTCCTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20752.hp1 HG01361.hp2 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0183 a0001c0004t0002g0184 a0001c0004t0002g0183 a0001c0004t0002g0184	2	350	0.0057	307	c.485 others(324): Show c.485+3706_485+3707insTTCCTTCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCGTCCTTCCCTCCTTCCTT CCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22819134	T T	TCCTTCCT others(300): Show TCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTC CTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCCTCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTT CCTCCCTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	350	0.0029	307	c.485 others(324): Show c.485+4057_485+4058insCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCC TTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCCTCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTC CTTCCTCCCTCCCTTCCTTCCTTCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(300): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCC GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG CCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	330	0.0030	307	c.124 others(322): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCC GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(300): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02647.hp1 others(12): Show HG01109.hp2 HG02145.hp2 HG02647.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA20300.hp1	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0013 a0033	a0001c0058 a0001c0059 a0003c0004 others(6): Show a0001c0058 a0001c0059 a0003c0004 a0003c0022 a0003c0060 a0008c0016 a0008c0056 a0013c0083 a0033c0057	a0001c0058t0009 a0001c0059t0031 a0003c0004t0005 others(7): Show a0001c0058t0009 a0001c0059t0031 a0003c0004t0005 a0003c0004t0012 a0003c0022t0005 a0003c0060t0008 a0008c0016t0010 a0008c0056t0010 a0013c0083t0006 a0033c0057t0001	a0001c0058t0009g0027 a0001c0059t0031g0026 a0003c0004t0005g0023 others(12): Show a0001c0058t0009g0027 a0001c0059t0031g0026 a0003c0004t0005g0023 a0003c0004t0005g0028 a0003c0004t0005g0029 a0003c0004t0005g0030 a0003c0004t0005g0033 a0003c0004t0012g0032 a0003c0022t0005g0040 a0003c0060t0008g0031 a0008c0016t0010g0024 a0008c0016t0010g0034 a0008c0056t0010g0035 a0013c0083t0006g0116 a0033c0057t0001g0025	15	174	0.0862	307	c.132 others(326): Show c.1328-3513_1328-3512insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(300): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0001 a0011c0028t0001	a0011c0028t0001g0134 a0011c0028t0001g0134	1	174	0.0058	307	c.132 others(326): Show c.1328-3513_1328-3512insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTAATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
IMPG1_chr6_75916114_76077662	75999261	A A	ACATACCA others(300): Show ACATACCAATTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGAGACTAC AGGCGCCCGCCACTACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02622.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0238 a0001c0001t0001g0260 a0001c0001t0001g0264 others(1): Show a0001c0001t0001g0238 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0009g0261	4	302	0.0133	307	c.129 others(326): Show c.1291+3656_1291+3657insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAACTTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCTCAGCTACTTGG GAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAGAATTGGTATG	IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	12/16			chr6	TogoVar
IQGAP2_chr5_76398285_76713132	76578872	T T	TAAGAGTG others(300): Show TAAGAGTGAGAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00621.hp2 others(40): Show HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00741.hp2 HG01891.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02647.hp1 HG02717.hp1 HG02976.hp2 HG03017.hp2 HG03453.hp1 HG03490.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG04228.hp2 NA18941.hp1 NA18945.hp1 NA18957.hp1 NA18962.hp2 NA18968.hp2 NA18970.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA19062.hp2 NA19070.hp1 NA19091.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0011 a0013 a0018 a0027	a0001c0002 a0001c0042 a0002c0001 others(10): Show a0001c0002 a0001c0042 a0002c0001 a0003c0004 a0003c0015 a0003c0036 a0004c0005 a0004c0007 a0006c0008 a0011c0032 a0013c0019 a0018c0021 a0027c0035	a0001c0002t0004 a0001c0002t0005 a0001c0042t0002 others(25): Show a0001c0002t0004 a0001c0002t0005 a0001c0042t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0005 a0002c0001t0006 a0002c0001t0007 a0002c0001t0008 a0002c0001t0012 a0002c0001t0015 a0003c0004t0005 a0003c0004t0007 a0003c0015t0001 a0003c0015t0002 a0003c0036t0006 a0004c0005t0001 a0004c0005t0006 a0004c0005t0012 a0004c0007t0006 a0006c0008t0002 a0006c0008t0003 a0011c0032t0003 a0013c0019t0001 a0018c0021t0001 a0027c0035t0002	a0001c0002t0004g0074 a0001c0002t0005g0027 a0001c0002t0005g0031 others(40): Show a0001c0002t0004g0074 a0001c0002t0005g0027 a0001c0002t0005g0031 a0001c0002t0005g0052 a0001c0042t0002g0160 a0002c0001t0001g0090 a0002c0001t0001g0133 a0002c0001t0001g0168 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0002g0115 a0002c0001t0002g0148 a0002c0001t0002g0169 a0002c0001t0003g0095 a0002c0001t0003g0132 a0002c0001t0004g0096 a0002c0001t0004g0171 a0002c0001t0005g0013 a0002c0001t0006g0022 a0002c0001t0007g0058 a0002c0001t0008g0012 a0002c0001t0012g0081 a0002c0001t0015g0009 a0003c0004t0005g0018 a0003c0004t0007g0023 a0003c0004t0007g0056 a0003c0015t0001g0150 a0003c0015t0001g0199 a0003c0015t0002g0144 a0003c0036t0006g0017 a0004c0005t0001g0089 a0004c0005t0001g0135 a0004c0005t0006g0020 a0004c0005t0012g0159 a0004c0007t0006g0038 a0006c0008t0002g0103 a0006c0008t0002g0130 a0006c0008t0003g0120 a0011c0032t0003g0146 a0013c0019t0001g0217 a0018c0021t0001g0138 a0018c0021t0001g0165 a0027c0035t0002g0186	43	222	0.1937	307	c.458 others(324): Show c.458+3116_458+3117insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAGAGTGAGAGCC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76578872	T T	TAAGAGTG others(300): Show TAAGAGTGAGAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0042 a0002c0001t0005g0042	1	222	0.0045	307	c.458 others(324): Show c.458+3116_458+3117insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAGAGTGAGAGCC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(300): Show ACCCACCCCCACCGTCCCCCCTCCACACCTGCAGCTCTCACCCACCCCCA CCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCATCCCCCTCC ACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCCTCCACACCTGCAGC TCTCACCCACCCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACC CCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCC CTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCCTCCACACGTG TAGCTCTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0093 a0001c0001t0048g0093	1	338	0.0030	307	c.117 others(328): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGG ACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTG GGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGC AGGTGTGGAGGGGGACGGTGGGGGGTGGGTGAGAGCTGCAGGTGTGGAGG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGATGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAG CTGCAGGTGTGGAGGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNAB1_chr3_156115578_156543605	156522084	T T	TACAAGAT others(300): Show TACAAGATTTTTTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	124	0.0081	307	c.961 others(324): Show c.961-1734_961-1733insTTTTTCTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCACAAGATTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM6A_chrX_44868188_45117779	45048879	A A	ACTCAAGT others(300): Show ACTCAAGTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	199	0.0050	307	c.655 others(324): Show c.655-2814_655-2813insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTCAAGTTACTTTTTT	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIAA0232_chr4_6777727_6889164	6879948	G G	GCCCCCCT others(300): Show GCCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACA CAGGTCTGTAGTGTCGCCTCACCATCTGTACTGTGTCACTGCAAACTCCC TTCCCAACACACAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCAC TGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCCCCTCACCATCTG TACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCC CTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCGTC TGCAGTGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	362	0.0028	307	c.400 others(324): Show c.4009-834_4009-833insCTCACCATCTGTACTGTGTCACTGCAAA CTCCCTTCCCAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACTGT GTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCCTCACC ATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGT GTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAC AGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCT TCCCAACACACCCGTCTGCAGTGCCCCCC	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0232_chr4_6777727_6889164	6880023	T T	TGTACTGT others(300): Show TGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATCTGCAGTGTC CCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCG TCTGCAGTGCCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTC CCAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACTGTGTCACTGC AAACTCCCTTCCCAACACACAGATCTGCAGTGTCCCCTCACCATCTGTAC TGTGTCACTGCAAACTCCCTTCCCAACACACCCGTCTGCAGTGCCCCCCT CACCATCG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	362	0.0028	307	c.400 others(324): Show c.4009-730_4009-729insCAGATCTGCAGTGTCCCCTCACCATCTG TACTGTGTCACTGCAAACTCCCTTCCCAACACACCCGTCTGCAGTGCCCC CCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGT CTGTAGTGTCGCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCC AACACACAGATCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAA ACTCCCTTCCCAACACACCCGTCTGCAGTGCCCCCCTCACCATCGGTACT GTGTCACTGCAAACTCCCTTCCCAACACA	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 10000 hits)