Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(209): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATATTATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATTATATATTATAATATATAATATATATTATAT ATATAATATATATTATATATAATATATATTATATAATATAATATATATAA TATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	334	0.0030	216	c.547 others(233): Show c.5473-422_5473-421insTATATTTAAAATATATATTATATATATT ATATTATATAATATATATTATATATAATATATATTATATATATAATATAT ATTATATATTATAATATATAATATATATTATATATTATATATATAATATA TATTATATATATTATATATTATATATAATATATATTATATATATAATATA TATTATATATATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(209): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATATTATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATTATATATTATAATATATAATATATATTTATA TATAATATATATTATATATAATATATATTATATATATATAATATATATAA TATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	334	0.0030	216	c.547 others(233): Show c.5473-422_5473-421insTATATTTAAAATATATATTATATATATT ATATATATATAATATATATTATATATAATATATATTATATATAAATATAT ATTATATATTATAATATATAATATATATTATATATTATATATATAATATA TATTATATATATTATATATTATATATAATATATATTATATATATAATATA TATTATATATATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYO7A_chr11_77123246_77220241	77192929	T T	TTGGTGTT others(209): Show TTGGTGTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCT GTTGGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGA TGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAG GTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGTTGAT GGTGGAGGTAGTGATGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp2 NA18522.hp2 HG02976.hp2 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0007 a0001c0018t0001 a0001c0018t0007	a0001c0018t0001g0311 a0001c0018t0001g0315 a0001c0018t0007g0206 a0001c0018t0001g0311 a0001c0018t0001g0315 a0001c0018t0007g0206	3	356	0.0084	216	c.415 others(233): Show c.4152+653_4152+654insGTGTTGGTGGAGGTAGTGATGGTGTTGG TGATGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGCTGTTG GTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGAT GGTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGG TGGTGATGGTGTTGTTGATGGTGGAGGTAGTGATGGTG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYRIP_chr3_39804609_40265321	40084319	A A	ATATCTAT others(209): Show ATATCTATAATACACATCTATGTATTATATATCTATAATACACATCTATG TATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGAT AATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATA CACATCTATGTATTATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0060 a0007c0018t0001g0060	1	170	0.0059	216	c.332 others(235): Show c.332+40052_332+40053insTATAATACACATCTATGTATTATATA TCTATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATCTATC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NALCN_chr13_101048776_101421508	101334376	A A	AGGAGAGA others(209): Show AGGAGAGAGGCAATCCAGGAAGAATGGGATGAACACATACATTCAAGAGG AGAATGGAGAGAGGCAATCCAGGAAGAATGGGATGAACACATACATTCAA GAGGAGAATGGAGAGAGGCAATCCAGGAAGAATGGGATGAACACATACAT TCAAGAGGAGAATGGAGACAGGCATTCCAGGAAGAATGGGATGAACACAT ACATTCAAGAAGAGAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	176	0.0057	216	c.799 others(235): Show c.799+10889_799+10890insATTCTCTTCTTGAATGTATGTGTTCA TCCCATTCTTCCTGGAATGCCTGTCTCCATTCTCCTCTTGAATGTATGTG TTCATCCCATTCTTCCTGGATTGCCTCTCTCCATTCTCCTCTTGAATGTA TGTGTTCATCCCATTCTTCCTGGATTGCCTCTCTCCATTCTCCTCTTGAA TGTATGTGTTCATCCCATTCTTCCTGGATTGCCTCTCTCC	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101334388	A A	ATCCAGGA others(209): Show ATCCAGGAAGAATGGGATGAACACATACATTCAAGAAGAGAATGGAGAGA GGCAATCCAGGAAGAATGGGATGAATACATACATTCAAGAAGAGAATGGA GAGAGGCAATCCAGGAAGAATGGGATGAATACATACATTCAAGAAGAGAA TGGAGAGAGGCAATCCAGGAAGAATGGGATGAACACATACATTCAAGAAG AGAATGGAGAGAGGCAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0038 a0001c0004t0007g0038	1	176	0.0057	216	c.799 others(235): Show c.799+10877_799+10878insATGCCTCTCTCCATTCTCTTCTTGAA TGTATGTGTTCATCCCATTCTTCCTGGATTGCCTCTCTCCATTCTCTTCT TGAATGTATGTATTCATCCCATTCTTCCTGGATTGCCTCTCTCCATTCTC TTCTTGAATGTATGTATTCATCCCATTCTTCCTGGATTGCCTCTCTCCAT TCTCTTCTTGAATGTATGTGTTCATCCCATTCTTCCTGGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101334388	A A	ATCCAGGA others(209): Show ATCCAGGAAGAATGGGATGAACACATACATTCAAGAAGAGAATGGAGAGA GGCATTCCAGGAAGAATGGGATGAACACATACATTCAAGAAGAGAATGGA GAGAGGCATTCCAGGAAGAATGGGATGAACACATACATTCAAGAAGAGAA TGGAGAGAGGCAATCCAGGAAGAATGGGATGAACACATACATTCAAGAAG AGAATGGAGAGAGGCAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA21309.hp2 HG01358.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0009 a0001c0004t0001 a0001c0004t0009	a0001c0004t0001g0075 a0001c0004t0009g0157 a0001c0004t0001g0075 a0001c0004t0009g0157	2	176	0.0114	216	c.799 others(235): Show c.799+10877_799+10878insATGCCTCTCTCCATTCTCTTCTTGAA TGTATGTGTTCATCCCATTCTTCCTGGATTGCCTCTCTCCATTCTCTTCT TGAATGTATGTGTTCATCCCATTCTTCCTGGAATGCCTCTCTCCATTCTC TTCTTGAATGTATGTGTTCATCCCATTCTTCCTGGAATGCCTCTCTCCAT TCTCTTCTTGAATGTATGTGTTCATCCCATTCTTCCTGGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NCAM2_chr21_20993409_21548329	21125412	T T	TTTACATA others(209): Show TTTACATATATATGTAATATATAATATTTTACATATATATGTAATATATA ATATTTTACATATATATGTAATATATAATATTTTACATATATATGTAATA TATAATATTTTACATATATATGTAATATATAATATTTTACATATATATGT AATATATAATATTTTACATATATATGTAATATATAATATTTTACATATAT ATGTAATATATAATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0082 a0001c0004t0001g0082	1	132	0.0076	216	c.55+ others(235): Show c.55+126804_55+126805insATGTAATATATAATATTTTACATATA TATGTAATATATAATATTTTACATATATATGTAATATATAATATTTTACA TATATATGTAATATATAATATTTTACATATATATGTAATATATAATATTT TACATATATATGTAATATATAATATTTTACATATATATGTAATATATAAT ATTTTACATATATATGTAATATATAATATATTACATATAT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCGCCT others(209): Show GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCG CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02109.hp1 HG02257.hp1 HG01934.hp2 HG02109.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206	3	378	0.0079	216	c.148 others(235): Show c.1480-2580_1480-2579insTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCOR2_chr12_124319415_124572612	124417113	G G	GTCACTCC others(209): Show GTCACTCCATGGAGAGCAGGCCGGACAGTCACTCCACGGAGAGCAGACCA GACACTCACTCCACGGAGAGCAGGCCGGACACTCACTCCACGCAGAGCAG GCCGGACACTCACTCCACGGACAGCAGGCCGGACACTCACTCCACGGACA GCAGGCCGGACACTCACTCCACGGACAGCAGGCCGGACACTCACTCCACG GAGAGCAGGCCGGACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02647.hp1 others(6): Show HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03471.hp2 HG03516.hp1	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0015 a0045	a0002c0017 a0002c0105 a0002c0117 others(6): Show a0002c0017 a0002c0105 a0002c0117 a0002c0121 a0002c0124 a0003c0073 a0006c0004 a0015c0113 a0045c0076	a0002c0017t0070 a0002c0105t0074 a0002c0117t0014 others(6): Show a0002c0017t0070 a0002c0105t0074 a0002c0117t0014 a0002c0121t0028 a0002c0124t0015 a0003c0073t0014 a0006c0004t0001 a0015c0113t0001 a0045c0076t0001	a0002c0017t0070g0113 a0002c0105t0074g0139 a0002c0117t0014g0118 others(6): Show a0002c0017t0070g0113 a0002c0105t0074g0139 a0002c0117t0014g0118 a0002c0121t0028g0117 a0002c0124t0015g0134 a0003c0073t0014g0229 a0006c0004t0001g0148 a0015c0113t0001g0112 a0045c0076t0001g0150	9	234	0.0385	216	c.148 others(235): Show c.1482+2843_1482+2844insGTGTCCGGCCTGCTCTCCGTGGAGTG AGTGTCCGGCCTGCTGTCCGTGGAGTGAGTGTCCGGCCTGCTGTCCGTGG AGTGAGTGTCCGGCCTGCTGTCCGTGGAGTGAGTGTCCGGCCTGCTCTGC GTGGAGTGAGTGTCCGGCCTGCTCTCCGTGGAGTGAGTGTCTGGTCTGCT CTCCGTGGAGTGACTGTCCGGCCTGCTCTCCATGGAGTGA	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	15/48			chr12	TogoVar
NDUFV3_chr21_42888309_42918299	42894362	A A	ATATATTA others(209): Show ATATATTATATATAAATATATATTATATATATTATATATAATATATATTA TATTAAATATATATTATATATATTATATATAATATATTAAATATATATTA TATATATTATATATAATATATATTATATATAATATATATTATATATAATA TATATTATATATATTATATATAATACATATTATATATAATATATATTATA TATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0153 a0001c0001t0016g0153	1	348	0.0029	216	c.48+ others(229): Show c.48+986_48+987insTATATATAAATATATATTATATATATTATATA TAATATATATTATATTAAATATATATTATATATATTATATATAATATATT AAATATATATTATATATATTATATATAATATATATTATATATAATATATA TTATATATAATATATATTATATATATTATATATAATACATATTATATATA ATATATATTATATATAATATATATTATATTATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATGTATA others(209): Show CATGTATATATGTATATATACACACATATGTGTATATACACATATGTATA TATGTATATATACACACATATGTGTATATACACATATGTATATATGTATA TATACACACATATGTGTATATACACATATGTATATATGTATATATACACA CATATGTGTATATACACATATGTATATATGTATATATACACACATATGTG TATATACACATATGTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0008 a0001c0003t0002 a0001c0003t0008	a0001c0003t0002g0014 a0001c0003t0008g0016 a0001c0003t0002g0014 a0001c0003t0008g0016	2	64	0.0313	216	c.409 others(233): Show c.409+6947_409+6948insATACATATGTGTATATACACATATGTGT GTATATATACATATATACATATGTGTATATACACATATGTGTGTATATAT ACATATATACATATGTGTATATACACATATGTGTGTATATATACATATAT ACATATGTGTATATACACATATGTGTGTATATATACATATATACATATGT GTATATACACATATGTGTGTATATATACATATATACAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71928161	C C	CACATATG others(209): Show CACATATGTATATATGTATATATACACACATATGTGTATATACACATATG TATATATGTATATATACACACATATGTGTATATACACATATGTATATATG TATATATACACACATATGTGTATATACACATATGTATATATGTATATATA CACACATATGTGTATATACACATATGTATATATGTATATATACACACATA TGTGTATATACACATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	64	0.0156	216	c.409 others(233): Show c.409+6917_409+6918insATATGTGTATATACACATATGTGTGTAT ATATACATATATACATATGTGTATATACACATATGTGTGTATATATACAT ATATACATATGTGTATATACACATATGTGTGTATATATACATATATACAT ATGTGTATATACACATATGTGTGTATATATACATATATACATATGTGTAT ATACACATATGTGTGTATATATACATATATACATATGT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(209): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCTCAC CCCACCCTCACCCTCACCCCCACCCCACCCTCACCCCCACTACCCCCACC CTCACCCCACCCTCACCCCCACCCCACCCTCACCCTCACCCCACCCTCAC CCTCACCCCCACCCCACCCCCACCCTCACCCTCACCCCCATCCTCACCCT CACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02895.hp2 HG01884.hp2 HG02055.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0028 a0001c0002t0017 a0001c0001t0007 a0001c0001t0028 a0001c0002t0017	a0001c0001t0007g0256 a0001c0001t0028g0204 a0001c0002t0017g0235 a0001c0001t0007g0256 a0001c0001t0028g0204 a0001c0002t0017g0235	3	316	0.0095	216	c.133 others(237): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGAGGGTGGGG GTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGGG TGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NFILZ_chr19_8625633_8686151	8656329	C C	CACCTTCT others(209): Show CACCTTCTCCCTGAAGCCCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAA GCCCACCTTCTCCCTGAAGCCCACCTTCTCCCTGAAGCCCACCTCCTCCC TGAAGCCCACCTTCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTC TTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTGAAGCCCAC CTCTTCCCTGAAGCCCA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02056.hp2 others(1): Show HG02027.hp1 HG02027.hp2 HG02056.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0045 a0001c0001t0001 a0001c0001t0045	a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0045g0146	4	366	0.0109	216	c.-16 others(237): Show c.-163-18222_-163-18221insACCTTCTCCCTGAAGCCCACCTCC TCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTTCTCCCTGAAGCCCACC TTCTCCCTGAAGCCCACCTCCTCCCTGAAGCCCACCTTCTCCCTGAAGCC CACCTCTTCCCTGAAGCCCACCTTCTTCCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819629	G G	GTATATAT others(209): Show GTATATATGTATGTATACGTATATACATGCGTATATATGTATGTATACGT ATATATATGCGTATATATGTATGTATACGTATATATACACACACGTATAT ATATGTATGTATACGTATATATATATACACACACGTATATATATGTATGT ATACGTATATATATATACACACACGTATATATATGTATGTATACGTATAT ATATATACACACACGTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02109.hp2 others(2): Show HG00735.hp1 HG02109.hp1 HG02109.hp2 NA18986.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0350 a0001c0001t0001g0371 a0001c0002t0001g0351 others(2): Show a0001c0001t0001g0350 a0001c0001t0001g0371 a0001c0002t0001g0351 a0001c0003t0001g0253 a0001c0003t0001g0347	5	416	0.0120	216	c.289 others(233): Show c.289+4256_289+4257insTACGTGTGTGTATATATATATACGTATA CATACATATATATACGTGTGTGTATATATATATACGTATACATACATATA TATACGTGTGTGTATATATATATACGTATACATACATATATATACGTGTG TGTATATATACGTATACATACATATATACGCATATATATACGTATACATA CATATATACGCATGTATATACGTATACATACATATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819629	G G	GTATATAT others(209): Show GTATATATGTATGTATACGTATATATATGCGTATATATGTATGTATACGT ATATATATGCGTATATATGTATGTATACGTATATATACACACACGTATAT ATATGTATGTATACGTATATATATATACACACACGTATATATATGTATGT ATACGTATATATATATACACACACGTATATATATGTATGTATACGTATAT ATATATACACACACGTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01515.hp1 HG01934.hp1 others(9): Show HG00741.hp1 HG01515.hp1 HG01934.hp1 HG01978.hp2 HG02165.hp2 HG02293.hp2 HG02717.hp2 HG02738.hp2 NA19010.hp1 NA19058.hp2 NA19091.hp1 NA20129.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0030 a0001c0001 a0013c0030	a0001c0001t0001 a0001c0001t0009 a0013c0030t0001 a0001c0001t0001 a0001c0001t0009 a0013c0030t0001	a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 others(9): Show a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0377 a0001c0001t0001g0382 a0001c0001t0009g0324 a0013c0030t0001g0236	12	416	0.0289	216	c.289 others(233): Show c.289+4256_289+4257insTACGTGTGTGTATATATATATACGTATA CATACATATATATACGTGTGTGTATATATATATACGTATACATACATATA TATACGTGTGTGTATATATATATACGTATACATACATATATATACGTGTG TGTATATATACGTATACATACATATATACGCATATATATACGTATACATA CATATATACGCATATATATACGTATACATACATATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993491	C C	CCCTCCCC others(209): Show CCCTCCCCCTCCCCCCTCCCTCCCCCTCCCCCCTCCTCCCCCCTCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0000 a0000	a0000c0023 a0000c0023	a0000c0023t0011 a0000c0023t0011	a0000c0023t0011g0261 a0000c0023t0011g0261	1	350	0.0029	216	c.55 others(227): Show c.5578_*5579insCCTCCCCCTCCCCCCTCCCTCCCCCTCCCCCCTC CTCCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCCTCCC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4863		chr19	TogoVar
NME8_chr7_37843597_37905397	37848188	A A	AGAGGAGG others(209): Show AGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAGGAAGAGGAGGAAG AGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAAGAGGAAGAA GAAGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAAGA GGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAAG AGGAAGAAGAAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	388	0.0026	216	c.-78 others(225): Show c.-781_-780insGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAG GAAGAGGAGGAAGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGA AGAAGAGGAAGAAGAAGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAG AGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAG GAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		408		chr7	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(209): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGT TAGTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG01516.hp2 others(4): Show HG00733.hp1 HG00741.hp2 HG01516.hp2 HG01517.hp1 HG02818.hp1 HG02895.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 others(3): Show a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0046 a0001c0001t0002g0234 a0001c0001t0002g0235	7	422	0.0166	216	c.195 others(233): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATATACTAACTATATTATT AATATAGTTAGTATATATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(209): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02615.hp1 others(3): Show HG02109.hp1 HG02257.hp2 HG02615.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0044 a0001c0001t0006g0228 a0001c0001t0006g0229 others(1): Show a0001c0001t0006g0044 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0009g0045	6	422	0.0142	216	c.195 others(233): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATATACTAACTATATTATT AATATAGTTACTATATATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(209): Show TGTTAGTATATTAATATATAGTAACTATATTAATATATACTAACTATATT ATTAATATAGTTAGTATATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0145 a0001c0001t0007g0145	1	422	0.0024	216	c.195 others(233): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATATACTAACTATATTAATAATATAGTTAG TATATATTAATATAGTTACTATATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535824	G G	GGTGGGTC others(209): Show GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0290 a0001c0001t0007g0290	1	324	0.0031	216	c.140 others(233): Show c.140+8199_140+8200insTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(209): Show TCTCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCC CTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0114 a0001c0001t0012g0114	1	326	0.0031	216	c.433 others(233): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTM_chr11_131365615_132341822	131681105	C C	CTCTGTGT others(209): Show CTCTGTGTCTGTGTGTGAGATCATGTCTGTGTCTGTGTCTGTGAGTGCCT GTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTGTGAGATCATGC CTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCATATGTTTGTGTAG GCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTATGTCTATGTCT GTGAGTGCCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	86	0.0116	216	c.83- others(235): Show c.83-230458_83-230457insCTGTGTCTGTGTGTGAGATCATGTCT GTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGCGTCTGTGTAGGCATGTGT GCCTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGT GTGTGTGCATATGTTTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGA GATCATGCCTATGTCTATGTCTGTGAGTGCCTGTGTGTGT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(209): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTACATATATATATATAAATATAGATATATCTATATATAT ATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02280.hp2 HG02559.hp2 others(6): Show HG01106.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG03130.hp1 HG03139.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 a0001c0001t0001 a0001c0001t0006 a0002c0003t0001	a0001c0001t0001g0046 a0001c0001t0001g0078 a0001c0001t0001g0102 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0378 a0001c0001t0001g0380 a0001c0001t0006g0130 a0002c0003t0001g0107 a0002c0003t0001g0268	9	418	0.0215	216	c.553 others(231): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTACATATATATATATAAATATAGATATATCTATATAT ATATATTTATAAATATAGATATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(209): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATAGGATATATATAATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATACT ATATAGTACTATATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	439	0.0023	216	c.-16 others(227): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATAGGATATATATAATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATACTATATAGTACTATATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR1F1_chr16_3183204_3211556	3198019	A A	AGGAGAGG others(209): Show AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	328	0.0031	216	c.-12 others(233): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(209): Show TTATTATATAATATATATATTATTATATAATATAATATATATTATATAAT ATATTTTATTATATAATATAATATATATTATATAATATAATATATTTTAT TATATAATATATATTATATTATATAATATAATATATATTAATATAAATAT ATATTATATTATATAATATAATATATATTATATAATATAATATATTTTAT TATATAAATATATATTA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	227	0.0044	216	c.-55 others(231): Show c.-55+393_-55+394insTATATTATTATATAATATAATATATATTAT ATAATATATTTTATTATATAATATAATATATATTATATAATATAATATAT TTTATTATATAATATATATTATATTATATAATATAATATATATTAATATA AATATATATTATATTATATAATATAATATATATTATATAATATAATATAT TTTATTATATAAATATATATTATATTATATAATATA	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OTOG_chr11_17542259_17651044	17552531	C C	CCCCACCT others(209): Show CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0124 a0124	a0124c0053 a0124c0053	a0124c0053t0001 a0124c0053t0001	a0124c0053t0001g0253 a0124c0053t0001g0253	1	268	0.0037	216	c.292 others(231): Show c.292+473_292+474insTCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552541	C C	CCTGTGTC others(209): Show CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0104 a0104	a0104c0140 a0104c0140	a0104c0140t0001 a0104c0140t0001	a0104c0140t0001g0041 a0104c0140t0001g0041	1	268	0.0037	216	c.293 others(231): Show c.293-515_293-514insTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PADI1_chr1_17200128_17251007	17241543	A A	AGAATCGG others(209): Show AGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGA ATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAG TGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATC GGGATGGAATCAGGGTTGGAAGTGAAAGTCGGAATCGGGATGGAATCAGG GTTGGAAGTGAATGTCG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0346 a0001c0005t0020g0346	1	406	0.0025	216	c.175 others(234): Show c.1758+915_1758+1130dupGAAGTGAATGTCGGAATCGGGATGGAA TCAGGGTTGGAAGTGAAAGTCGGAATCGGGATGGAATCAGGGTTGGAAGT GAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCG GGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGG TTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTG	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(209): Show TCCTCCCCCTCCCCTCCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCT CCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0221 a0001c0001t0008g0221	1	308	0.0033	216	c.226 others(235): Show c.2262+7531_2262+7532insCTCCCCTCCCCCCTCCTCCCCTTCCT CCCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCA CTCCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGCCGGG others(209): Show GGGCCGGGGGGGGCGGGGGCGGGGTCGGTGGTCCGCGGGCGGGGGGCGGG GGGGCAGCTGGGCGGGGGCGGCGGGGGGCGGGCGGGGGGCGGGGGGGGCG GGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGGGCGGGGGGGCGGGGG GGGCGGGGGGCGGGGGGGGGCGGGGGCGGGGGGCGGGGGGGGAGGCGGGG GGGCGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0196 a0001c0006t0004g0196	1	221	0.0045	216	c.-95 others(225): Show c.-958_-957insGGCCGGGGGGGGCGGGGGCGGGGTCGGTGGTCCGCG GGCGGGGGGCGGGGGGGCAGCTGGGCGGGGGCGGCGGGGGGCGGGCGGGG GGCGGGGGGGGCGGGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGGGC GGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGGCGGGGGCGGGGGGCGGG GGGGGAGGCGGGGGGGCGGGGGCGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(209): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATGTAATACATAT ATGTATTACATATATAACATGTAATACATATATAACATGTATTACATATA TGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02723.hp2 HG01109.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	400	0.0050	216	c.70 others(227): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATGTAATACATATATGTATTACATATATAACATGTAATACATATATAA CATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(209): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATGTAATACATAT ATGTATTACATATATAACATGTAATACATATATAACATGTATTACATATA TGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	400	0.0025	216	c.70 others(227): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTAATACATATATGTATTACATATATAACATGTAATACATATATAA CATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(209): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATGTAATACATAT ATGTATTACATATATAACATGTAATACATATATAACATGTATTACATATA TGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	216	c.70 others(227): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATGTAATACATATATGTATTACATATATAACATGTAATACATATATAA CATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG02886.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0234 a0003c0004t0001g0235 a0003c0004t0001g0234 a0003c0004t0001g0235	2	268	0.0075	216	c.242 others(237): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0106 a0001c0001t0001g0114	2	272	0.0074	216	c.242 others(237): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0029 a0003c0003t0001g0031	2	270	0.0074	216	c.242 others(237): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0229 a0002c0002t0001g0231	2	274	0.0073	216	c.251 others(237): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG02886.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0127 a0001c0002t0001g0018 a0001c0002t0001g0127	2	292	0.0069	216	c.242 others(237): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG02886.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0283 a0001c0002t0001g0284	2	292	0.0069	216	c.242 others(237): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0057 a0001c0001t0001g0059	2	292	0.0069	216	c.242 others(237): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0007 a0001c0001t0001g0025	2	302	0.0066	216	c.242 others(237): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0283 a0001c0005t0001g0284 a0001c0005t0001g0283 a0001c0005t0001g0284	2	302	0.0066	216	c.242 others(235): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0014 a0002c0004t0001g0012 a0002c0004t0001g0014	2	278	0.0072	216	c.240 others(237): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0279 a0003c0003t0001g0281 a0003c0003t0001g0279 a0003c0003t0001g0281	2	288	0.0069	216	c.242 others(237): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0289 a0003c0003t0001g0290	2	296	0.0068	216	c.241 others(237): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0007 a0001c0001t0001g0013	2	294	0.0068	216	c.239 others(237): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)