Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(231): Show CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG TCATGTACACCTCCAGAGTCCCACACACAGTCATGTGTACTTCCAGAGTC CCACACAGTCAGGTATACCTCCAGAGTCCCACACACAGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0012 a0012	a0012c0038 a0012c0038	a0012c0038t0003 a0012c0038t0003	a0012c0038t0003g0028 a0012c0038t0003g0028	1	342	0.0029	238	c.110 others(255): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGTCATGTACACCTCCAGAGTCCCACACACAGTCAT GTGTACTTCCAGAGTCCCACACAGTCAGGTATACCTCCAGAGTCCCACAC ACAGTCATGT	VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(231): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	326	0.0031	238	c.483 others(253): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCC TGCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(231): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01981.hp1 HG00735.hp1 HG01981.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0040 a0003c0003t0003g0096 a0001c0001t0001g0040 a0003c0003t0003g0096	2	326	0.0061	238	c.483 others(253): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(231): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	326	0.0031	238	c.483 others(253): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(231): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	326	0.0031	238	c.483 others(253): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(231): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0003 a0001c0029t0003	a0001c0029t0003g0094 a0001c0029t0003g0094	1	326	0.0031	238	c.483 others(253): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241675006	T T	TCCTTCCT others(231): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCC CTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0187 a0001c0002t0002g0187	1	326	0.0031	238	c.483 others(253): Show c.483+259_483+260insCCTTCCTGCCTCCCTCCCTCCTTCCTGCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCC CTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCC TGCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241675087	A A	ATCCTTCC others(231): Show ATCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTGCCTCCCTCCCTTCA TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TTCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02280.hp1 others(1): Show HG02109.hp2 HG02257.hp1 HG02280.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0300 a0003c0003t0003g0033 a0003c0003t0003g0034 others(1): Show a0001c0001t0001g0300 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035	4	326	0.0123	238	c.483 others(253): Show c.483+373_483+374insTGCCTCCCTCCCTTCATCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCC CTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WNT7A_chr3_13811258_13885071	13869218	G G	GAAAGAAA others(231): Show GAAAGAAAAAGAGAGAGAGAAAGAAAGAGAGAGAGAAAGAGAGAAAGTGA GGAGAGAGAGAGGAAGGGAGAAAGAGAGAGAGAAAGCAAGTGAGAGAGAG AAAGAGGGAGAGAGAAAGAGAAAGAGGGAGAGAGAGGGAGGGAGGAATGA AAGAAAGAAGGAAGGAAGGAAAGAAGGAAGGATGGAAAAGAGAGAATGGA AGGAAGGAAGCAAGGAAGGAAGGGAGAAAGAGAGAAAGA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0026 a0001c0002t0021g0026	1	354	0.0028	238	c.298 others(255): Show c.298+5728_298+5729insTCTTTCTCTCTTTCTCCCTTCCTTCCTT GCTTCCTTCCTTCCATTCTCTCTTTTCCATCCTTCCTTCTTTCCTTCCTT CCTTCTTTCTTTCATTCCTCCCTCCCTCTCTCTCCCTCTTTCTCTTTCTC TCTCCCTCTTTCTCTCTCTCACTTGCTTTCTCTCTCTCTTTCTCCCTTCC TCTCTCTCTCCTCACTTTCTCTCTTTCTCTCTCTCTTTCTTTCTCTCTCT CTTTTTCTTT	WNT7A	ENSG00000154764.6	transcript	ENST00000285018.5	protein_coding	2/3			chr3	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(231): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TATTTTTAAATATATATTATATATAATATATATTTAAAAATATATTATAT AAATATATTTTAAAATATGTATTATATATAAATATATTTTTAAATATATA TTATATATAAATATATTTTTAAATATATATTATATATAAATATATTTTTA AATATATATTATATATAAATATATTTTAAATATATATTA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0315 a0002c0002t0008g0315	1	394	0.0025	238	c.39+ others(253): Show c.39+1335_39+1336insTAATATATATTTAAAATATATTTATATATA ATATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATT TATATATAATATATATTTAAAAATATATTTATATATAATACATATTTTAA AATATATTTATATAATATATTTTTAAATATATATTATATATAATATATAT TTAAAAATATATATAATATATATTTAAAAATATATTATATAAATATATTT TTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(231): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAGTTT TCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGGAGG CGGGAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGGACG GGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0081 a0001c0030t0081	a0001c0030t0081g0128 a0001c0030t0081g0128	1	156	0.0064	238	c.-12 others(247): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGCAGCGGCGAGCCGAGGCGG CG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(231): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAGTTT TCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGGAGG CGGGAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGGACG GGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp2 HG03098.hp1 HG02055.hp2 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0032 a0001c0006 a0001c0032	a0001c0006t0079 a0001c0032t0080 a0001c0006t0079 a0001c0032t0080	a0001c0006t0079g0127 a0001c0032t0080g0126 a0001c0006t0079g0127 a0001c0032t0080g0126	2	156	0.0128	238	c.-12 others(247): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGGCGG CG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(231): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCT GCCGCCGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAGTTT TCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGGAGG CGGGAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGGACG GGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01243.hp2 others(58): Show HG00639.hp2 HG01069.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA19030.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0015 a0001c0022 a0001c0028 a0001c0033 a0002c0005 a0003c0010 a0003c0023 a0004c0019 a0004c0041 a0005c0016 a0005c0017 a0005c0043 a0005c0044 a0006c0040 a0007c0009 a0013c0021 a0014c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0050 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0016 a0001c0002t0042 a0001c0002t0049 a0001c0002t0055 a0001c0003t0006 a0001c0004t0004 a0001c0004t0044 a0001c0004t0046 a0001c0006t0012 a0001c0007t0004 a0001c0007t0047 a0001c0008t0051 a0001c0008t0052 a0001c0014t0053 a0001c0015t0002 a0001c0022t0001 a0001c0028t0060 a0001c0033t0048 a0002c0005t0015 a0003c0010t0002 a0003c0023t0004 a0004c0019t0013 a0004c0019t0054 a0004c0041t0061 a0005c0016t0016 a0005c0016t0059 a0005c0017t0043 a0005c0043t0045 a0005c0044t0004 a0006c0040t0004 a0007c0009t0014 a0013c0021t0013 a0014c0020t0004	a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0065 others(58): Show a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0049 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0099 a0001c0001t0017g0059 a0001c0001t0017g0095 a0001c0001t0050g0052 a0001c0001t0056g0085 a0001c0001t0057g0064 a0001c0001t0058g0098 a0001c0002t0001g0048 a0001c0002t0001g0070 a0001c0002t0002g0063 a0001c0002t0016g0077 a0001c0002t0042g0086 a0001c0002t0049g0078 a0001c0002t0055g0091 a0001c0003t0006g0050 a0001c0003t0006g0093 a0001c0003t0006g0094 a0001c0003t0006g0096 a0001c0003t0006g0097 a0001c0004t0004g0101 a0001c0004t0044g0072 a0001c0004t0046g0056 a0001c0006t0012g0042 a0001c0006t0012g0043 a0001c0007t0004g0060 a0001c0007t0047g0102 a0001c0008t0051g0092 a0001c0008t0052g0062 a0001c0014t0053g0080 a0001c0015t0002g0100 a0001c0022t0001g0066 a0001c0028t0060g0089 a0001c0033t0048g0073 a0002c0005t0015g0067 a0002c0005t0015g0074 a0003c0010t0002g0087 a0003c0023t0004g0076 a0004c0019t0013g0047 a0004c0019t0054g0075 a0004c0041t0061g0068 a0005c0016t0016g0055 a0005c0016t0059g0069 a0005c0017t0043g0054 a0005c0043t0045g0057 a0005c0044t0004g0071 a0006c0040t0004g0053 a0007c0009t0014g0046 a0007c0009t0014g0061 a0013c0021t0013g0045 a0014c0020t0004g0044	61	156	0.3910	238	c.-12 others(247): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCAGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGGCGG CG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(231): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCT GCCGCCGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAGTTT TCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGGAGG CGGGAGCGGGGAGGCCGCGGATGGGGGCGCCGGGCGCGCGCTCGGGGACG GGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02896.hp2 HG03195.hp2 HG03579.hp2 HG02896.hp2 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0031 a0001c0001 a0001c0006 a0001c0031	a0001c0001t0022 a0001c0006t0009 a0001c0031t0009 a0001c0001t0022 a0001c0006t0009 a0001c0031t0009	a0001c0001t0022g0003 a0001c0006t0009g0002 a0001c0031t0009g0001 a0001c0001t0022g0003 a0001c0006t0009g0002 a0001c0031t0009g0001	3	156	0.0192	238	c.-12 others(247): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCATCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCAGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGGCGG CG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(231): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCT GCCGCCGCCGCCGCTGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAGTTT TCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGGAGG CGGGAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGGACG GGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0025 a0003c0010t0025	a0003c0010t0025g0006 a0003c0010t0025g0006	1	156	0.0064	238	c.-12 others(247): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCAGCGGCGGCGGC GGCAGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGGCGG CG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
ZBTB46_chr20_63738670_63836264	63747387	G G	GGGGCGGG others(231): Show GGGGCGGGGCAGGGGGTGAGCAGGGCCCGGTGGAGGTTGGGAGGGGGGCC AGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGGCGGGGCAGGGGGTGAGC AGGGCCCGGTGGAGGTTGGGGTGGGGGGGGCAGGGGGTGAGCAGGGCCTG GTGGGTGGGGGGGGTGCGGGGGTGAGCAGGGCCTGGTGGAGGTTGGAAGG GGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0197 a0001c0004t0005g0197	1	316	0.0032	238	c.139 others(253): Show c.1399-87_1399-86insTCCCCCACCTCCACCAGGCCCTGCTCACCC CCTGCCCCCCCTTCCAACCTCCACCAGGCCCTGCTCACCCCCGCACCCCC CCCACCCACCAGGCCCTGCTCACCCCCTGCCCCCCCCACCCCAACCTCCA CCGGGCCCTGCTCACCCCCTGCCCCGCCCCCCCCACCCACCAGGCCCTGC TCACCCCCTGGCCCCCCTCCCAACCTCCACCGGGCCCTGCTCACCCCCTG CCCCGCCC	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	4/4			chr20	TogoVar
ZNF732_chr4_265675_310474	299373	A A	ATATATAT others(231): Show ATATATATACACATATATACACATATGTGTATATATATACACATATATAC ACATATGTGTATATATATACACATATATACACATATGTGTATATATATAC ACATATATACACATATGTGTATATATATACACATATATACACATATGTGT ATATATATATACACATATATACACATGTGTATATATATATACACATATAT ACACATGTGTATATATATATACACATATATACACATGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0058 a0006c0008t0001g0058	1	326	0.0031	238	c.4-3 others(251): Show c.4-3219_4-3218insCACATGTGTATATATGTGTATATATATATACA CATGTGTATATATGTGTATATATATATACACATGTGTATATATGTGTATA TATATATACACATATGTGTATATATGTGTATATATATACACATATGTGTA TATATGTGTATATATATACACATATGTGTATATATGTGTATATATATACA CATATGTGTATATATGTGTATATATATACACATATGTGTATATATGTGTA TATATA	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	1/3			chr4	TogoVar
ACTRT3_chr3_169761921_169774561	169771080	A A	ATATAAAA others(232): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATGTTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	418	0.0024	239	c.-15 others(250): Show c.-1561_-1560insATATATAAACATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATAT GATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTAT ATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTT TTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1520		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771173	A A	ATATAAAA others(232): Show ATATAAAAATTTATATTTATATATCATTATATAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATAAATAAAAATTTATATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	239	c.-16 others(250): Show c.-1654_-1653insATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATAT GATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTAT ATATGATATATAAATATAAATTTTATATAATGATATATAAATATAAATTT TTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1613		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771266	A A	ATATAAAA others(232): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATGATATATAAAAATTTATATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	239	c.-17 others(250): Show c.-1747_-1746insATATATAAATATAAATTTTTATATATCATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATAT GATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTAT ATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTT TTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1706		chr3	TogoVar
ADAMTS6_chr5_65143738_65486920	65230755	T T	TATATATA others(232): Show TATATATAATACATTATATATATGAAATATATATAATACATTATATATAT GAAATATATATAATACATTATATATATGAAATATATATAATACATTATAT ATATGAAATATATATAATACATTATATATATGAAATATATATAATACATT ATATATATGAAATATATATAATACATGATATATATGAAATATATATAATA CATGATATATGTGAAATATATAATACATGATATATGTGAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19058.hp1 HG01361.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0137 a0001c0001t0001g0053 a0001c0001t0001g0137	2	204	0.0098	239	c.193 others(258): Show c.1934-4537_1934-4536insTTCACATATATCATGTATTATATATT TCACATATATCATGTATTATATATATTTCATATATATCATGTATTATATA TATTTCATATATATAATGTATTATATATATTTCATATATATAATGTATTA TATATATTTCATATATATAATGTATTATATATATTTCATATATATAATGT ATTATATATATTTCATATATATAATGTATTATATATATTTCATATATATA ATGTATTATATAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADGRL3_chr4_61195326_62083335	61847965	A A	ATATATAT others(232): Show ATATATATAATATAAAATATATTATATATAATATAAAATATATTATATAT AATATAAAATATATTATATATAATATAAAATATATTATACATATAATATA AAATATATTATATATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATATAATATAAAATATATTATATATAATATAAAATATATTA TATATAATATAAAATATATTATATATAATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0052 a0001c0012t0001g0052	1	58	0.0172	239	c.148 others(260): Show c.1480+34105_1480+34106insATATAAAATATATTATATATAATA TAAAATATATTATATATAATATAAAATATATTATACATATAATATAAAAT ATATTATATATATAATATAAAATATATTATATATATAATATAAAATATAT TATATATATAATATAAAATATATTATATATAATATAAAATATATTATATA TAATATAAAATATATTATATATAATATAAAATATATTATATATAATATAA AATATATTATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AHNAK2_chr14_104932253_104983374	104933637	C C	CGGGGAGG others(232): Show CGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGG GGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGG GGACGGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGG GAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTG AGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0161 a0161	a0161c0079 a0161c0079	a0161c0079t0012 a0161c0079t0012	a0161c0079t0012g0141 a0161c0079t0012g0141	1	356	0.0028	239	c.44 others(250): Show c.4425_*4426insTCACTCAGCCCCGGGTCCCCTCCCGCCCTCCCCG TCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCT CCCCTCCCGCCCTCCCCGTCCCCTCAGCCGCGGGTCCCCTCCCGCCCTCC CCGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCGC GGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCCCGCCC TCCCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3615		chr14	TogoVar
AK5_chr1_77277019_77564966	77367792	T T	TATATGTT others(232): Show TATATGTTATATAATATATGTTATATATAATATATGTTATATATTATATA TAATATATGTTATATATTATATATAATATATGTTATATATTATATATAAT ATATGTTATATATTATATATAATATATGTTATATATTATATATAATATAT GTTATATATTATATATAATATATGTTATATATATTATATATTATATGTTA TATATATTATATATAATATGTTATATATATTATATATAAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	284	0.0035	239	c.891 others(258): Show c.891+27226_891+27227insATGTTATATAATATATGTTATATATA ATATATGTTATATATTATATATAATATATGTTATATATTATATATAATAT ATGTTATATATTATATATAATATATGTTATATATTATATATAATATATGT TATATATTATATATAATATATGTTATATATTATATATAATATATGTTATA TATATTATATATTATATGTTATATATATTATATATAATATGTTATATATA TTATATATAACAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(232): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGG GGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGGGGG GAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02572.hp1 others(4): Show HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02886.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0040 a0001c0001t0006 a0001c0001t0040	a0001c0001t0006g0019 a0001c0001t0006g0025 a0001c0001t0006g0027 others(4): Show a0001c0001t0006g0019 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0038 a0001c0001t0006g0042 a0001c0001t0040g0294	7	356	0.0197	239	c.667 others(254): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTT CCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCCCCCC TCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCC CCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCC CCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(232): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGA GAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGAGGGGAGGGGGGAGAGGGG GGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGGGGG GAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	356	0.0028	239	c.667 others(254): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTT CCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCTTCCCCCTCTCCCCCCT CTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCC CCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCC CCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AP3D1_chr19_2095988_2156566	2128665	G G	GCCCCCGC others(232): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCACAG CTCCGACACTGCACCCCGTGGAGCTGGCCCGCCCCCGCCGCTCCGACACT GCACCCCGTGGAGCCGGCCCACCCCACAGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCTGGCCCG CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19065.hp1 NA19005.hp2 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0348 a0001c0003t0009g0349 a0001c0003t0009g0348 a0001c0003t0009g0349	2	406	0.0049	239	c.806 others(254): Show c.806+424_806+425insGCGGGCCGGCTCCACGGGGTGCAGTGTCGG AGCTGTGGGGCGGGCCAGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGG CGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGTGGGCCGGCTC CACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCAGCTCCACGGGGTGC AGTGTCGGAGCTGTGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAG CGGCGGGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128751	A A	AGCTCCGA others(232): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCCGCCGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCCACAGCTCCGACACTGCACCCC GTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	406	0.0025	239	c.806 others(254): Show c.806+338_806+339insGGCGGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCG GCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGGCGGGCCGGCTCCAC GGGGTGCAGTGTCGGAGCGGCGGGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3M1_chr10_74115255_74155828	74141461	T T	TAAAAAAT others(232): Show TAAAAAATGGGCAAAGGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAACCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	334	0.0030	239	c.-3- others(254): Show c.-3-3080_-3-3079insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCCTTTGC CCATTTTTT	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8			chr10	TogoVar
APOB_chr2_20996429_21049073	21001219	T T	TTTAATTA others(232): Show TTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAA TTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATA AATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATA TTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAA TTATAAAATATTTAATTATAAATATTTTAATTATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19091.hp2 NA19082.hp2 NA19091.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0138 a0006c0006t0001g0139 a0006c0006t0001g0138 a0006c0006t0001g0139	2	350	0.0057	239	c.51 others(248): Show c.510_*511insTATTTTATAATTAAAATATTTATAATTAAATATTTT ATAATTAAAATATTTATAATTAAATATTTTATAATTAAAATATTTATAAT TAAATATTTTATAATTAAAATATTTATAATTAAATATTTTATAATTAAAA TATTTATAATTAAATATTTTATAATTAAAATATTTATAATTAAATATTTT ATAATTAAAATATTTATAATTAAATATTTTATAATTAAAATATTTATAAT TAA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		209		chr2	TogoVar
ARFGAP1_chr20_63267813_63294790	63294164	G G	GGGGGAGT others(232): Show GGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGTGGGGGGG AGGGGAGTGCGGGGGGAGGGGGGAGTGCAGGGGGGAGGGGAGTGCGGGGG GAGGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAAGCGGGGGCTGCCGAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	342	0.0029	239	c.62 others(250): Show c.6291_*6292insGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAG GGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGGAGTGCAGGGGGG AGGGGAGTGCGGGGGGAGGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGG GAGGGGGAGTGTGGGGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCAGGG GAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAAGCGGGGGCTGCCGA GGAGC	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4375		chr20	TogoVar
ARHGEF7_chr13_111110310_111310732	111221373	A A	ATATATGT others(232): Show ATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTAT ATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATAT ATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCT ATATATATCTATATAGATATATATGTCTATATATATCTATATATAGATAT ATATGTCTATATATATCTATATATAGATATATATAGACAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01361.hp1 HG01257.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0140 a0001c0001t0005g0141	2	274	0.0073	239	c.670 others(256): Show c.670+3496_670+3497insATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATCTATATATAGATATATATGTCTATATATATCTATATATAGATATAT ATAGACATTAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARL13B_chr3_93975155_94060678	94043553	T T	TCCCCTCC others(232): Show TCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCC CCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCGCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCGCTCCCCCTCC CCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCCCCCCCCTCCCTCCCCC TCCCCCTCCCCCTCCCCCTCTCCCCCCCCCTCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	264	0.0038	239	c.102 others(256): Show c.1024+317_1024+318insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCGCTCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCC CCCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCCCCCTCT CCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(232): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	264	0.0038	239	c.102 others(256): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCC CCCTCCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(232): Show AGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGG GGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGGAGGGGGATGGGAGGG GAGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGG GACGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGT GAGGGGAGGGGAGGGGGAGGGGAGGAGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	216	0.0046	239	c.311 others(256): Show c.311-1311_311-1310insCCTCCCCTCCCCTCTCCTCCCCTCCCCC TCCCCTCCCCTCACCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCT CCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCT CCCCTCCCCCTCCCCTCCCATCCCCCTCCCCCTCCTCTTCCCTCCCCCTT CCCTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCC CCTCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198317	G G	GGAAGGAG others(232): Show GGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGACGGGGAGGGAAGGGG GAGGGAAGAGGAGGGGAGGGGGGATGGGAGGGGAGGGGGAGGGGAGGGGG AGGAGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGGGGAGGGGG AGGGGAGGGGAGATGGGAGGGGAGGGGAGGGTGAGGGGAGGGGAGGGGGA GGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	216	0.0046	239	c.311 others(256): Show c.311-1329_311-1328insTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCTCCTCCCCTCCCCCTCCCCTCCCCTCACCCTCCCCTCCCCTCCCAT CTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCA TCCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCATCCCCCCTCCCC TCCTCTTCCCTCCCCCTTCCCTCCCCGTCCCCCCTCCCGTCTGCCCTCCC CCATCTCCTTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASGR2_chr17_7096326_7119822	7112078	A A	AGGGGAGG others(232): Show AGGGGAGGGGGAGAGGGGAGGGGGGGAGAGGGATGGAGGGGGAGGGGCAG GGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGGGGGAGGG AGAGGGGGAGGGGAGAGGGAGGGGAGGGAGAGGGAGGGGGGGAGTGCGAG GGGAGGGGGAGGGGAGAGGGAGGGGGAGGGGGAGGGAGAG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0303 a0001c0001t0004g0303	1	432	0.0023	239	c.124 others(256): Show c.124+2038_124+2039insCTCTCCCTCCCCCTCCCCCTCCCTCTCC CCTCCCCCTCCCCTCGCACTCCCCCCCTCCCTCTCCCTCCCCTCCCTCTC CCCTCCCCCTCTCCCTCCCCCTCCCCTTCCCTCTCCCTCCCCCTCCCCCT CTCCCTTCCTCCTCTCCTCCCCCTCCCCCTCCCCATCCCTCCCTCTCCCT CCTCCCCCTCCCCTGCCCCTCCCCCTCCATCCCTCTCCCCCCCTCCCCTC TCCCCCTCCCC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(232): Show CTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0185 a0004c0004t0002g0185	1	226	0.0044	239	c.108 others(256): Show c.108+5681_108+5682insTTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112787205	A A	AGTGTCCT others(232): Show AGTGTCCTGATGTGTAGACCCCTGTGGATACCTACTTAATTCACACCGGG TGTCCTGATGCGTAGACTCCTGTGGATACCTACTTAATTCACACCGGGTG TCCTGATGTGTAGACCCCTGTGGAGACCTACTTAATTGACACCGGGTGTC CTGATGCGTAGACTCCTGTGGAGACCTACTTAATCCACACCAGTGTCCTA ATGTGTAGACCCCTGTGGAGACCTACTTAATTCACACCGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0171 a0001c0001t0073g0171	1	254	0.0039	239	c.162 others(256): Show c.162+2111_162+2349dupTCCTGTGGAGACCTACTTAATCCACACC AGTGTCCTAATGTGTAGACCCCTGTGGAGACCTACTTAATTCACACCGGG TGTCCTGATGTGTAGACCCCTGTGGATACCTACTTAATTCACACCGGGTG TCCTGATGCGTAGACTCCTGTGGATACCTACTTAATTCACACCGGGTGTC CTGATGTGTAGACCCCTGTGGAGACCTACTTAATTGACACCGGGTGTCCT GATGCGTAGAC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112873188	C C	CGGTGTGA others(232): Show CGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTG TCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGT GTGGCTTTGTCTTCCTGAACAGTGTGAGATGTGGCTTTGTCTTCCTGAGC GGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAACAGTGTGAGGTGTGGCTTTGTCTTCCTGAGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0058 a0001c0017t0058	a0001c0017t0058g0053 a0001c0017t0058g0053	1	254	0.0039	239	c.305 others(256): Show c.3058-258_3058-257insATGTGGCTTTGTCTTCCTGAGCGGTGTG AGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCT GAACAGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCT TTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AACAGTGTGAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112873188	C C	CGGTGTGA others(232): Show CGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTG TCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGT GTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGC GGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAACAGTGTGAGGGGTGGCTTTGTCTTCCTGAGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0045 a0001c0044t0045	a0001c0044t0045g0133 a0001c0044t0045g0133	1	254	0.0039	239	c.305 others(256): Show c.3058-266_3058-265insGGTGTGAGGTGTGGCTTTGTCTTCCTGA GCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTT GTCTTCCTGAACAGTGTGAGGGGTGGCTTTGTCTTCCTGAGTGGTGTGAG GTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTTAA TGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTG TCTTCCTGAAC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112873190	G G	GTGTGAGG others(232): Show GTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTC TCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGT GGCTTTGTCTTCCTGAACAGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGG TGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCT TCCTGAACAGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp2 others(53): Show HG00099.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01981.hp1 HG02055.hp2 HG02083.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18995.hp2 NA19010.hp2 NA19043.hp2 NA19063.hp2 NA19085.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0010	a0001c0001 a0001c0006 a0001c0011 others(8): Show a0001c0001 a0001c0006 a0001c0011 a0001c0016 a0001c0022 a0001c0030 a0001c0042 a0002c0010 a0005c0018 a0008c0035 a0010c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0001t0054 a0001c0001t0055 a0001c0001t0060 a0001c0001t0067 a0001c0001t0072 a0001c0001t0073 a0001c0006t0001 a0001c0006t0056 a0001c0006t0077 a0001c0011t0001 a0001c0011t0046 a0001c0016t0004 a0001c0022t0001 a0001c0030t0001 a0001c0042t0044 a0002c0010t0001 a0002c0010t0010 a0002c0010t0040 a0005c0018t0001 a0008c0035t0001 a0010c0037t0001	a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0068 others(53): Show a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0244 a0001c0001t0002g0050 a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0010g0095 a0001c0001t0010g0122 a0001c0001t0019g0018 a0001c0001t0021g0092 a0001c0001t0021g0240 a0001c0001t0054g0008 a0001c0001t0055g0161 a0001c0001t0060g0138 a0001c0001t0067g0093 a0001c0001t0072g0006 a0001c0001t0073g0171 a0001c0006t0001g0007 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0006t0001g0135 a0001c0006t0001g0164 a0001c0006t0056g0162 a0001c0006t0077g0159 a0001c0011t0001g0003 a0001c0011t0046g0011 a0001c0016t0004g0214 a0001c0016t0004g0215 a0001c0022t0001g0196 a0001c0022t0001g0217 a0001c0030t0001g0103 a0001c0042t0044g0148 a0002c0010t0001g0239 a0002c0010t0010g0222 a0002c0010t0040g0221 a0005c0018t0001g0009 a0005c0018t0001g0168 a0008c0035t0001g0187 a0010c0037t0001g0076	56	254	0.2205	239	c.305 others(256): Show c.3058-178_3058-177insACAGTGTGAGGTGTGGCTTTGTCTTCCT GAGTGTTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCT TTGTCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAACAGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTT TGTCTTCCTGA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50085971	G G	GATATATA others(232): Show GATATATATCATATATATTTATATATGATATATATCATATATATTTATAT ATGATATATATCATATATATTTATATATGATATATATCATATATATTTAT ATATGATATATATCATATGATATATATCATATATAAATATATATGATATA TATCATATATATTTATATATGATATATATCATATATATTTATATATGATA TATATCATATATATTTATATATGATATATATCATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0251 a0005c0005t0001g0251	1	254	0.0039	239	c.29- others(256): Show c.29-11787_29-11786insATATATATGATATATATCATATATAAAT ATATATGATATATATCATATATAAATATATATGATATATATCATATATAA ATATATATGATATATATCATATATATTTATATATGATATATATCATATGA TATATATCATATATAAATATATATGATATATATCATATATAAATATATAT GATATATATCATATATAAATATATATGATATATATCATATATAAATATAT ATGATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	82970672	C C	CGTGGCCG others(232): Show CGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCAGCG TGGCCGCGACCTCCGCACCCAGCGTGGACTGACCTCCGCACCCAGCGTGG CCGTGACCTCCGCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCC GTGACCTCCGCACCCAGTGTGGCCGTGACCTCCGCACCCAGTGTGGCTGT GACCTCTGCACATGGCGTGGCCGTGACCTCCGCACCCAGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0180 a0002c0005t0003g0180	1	266	0.0038	239	c.460 others(256): Show c.460-4927_460-4926insACTGGGTGCGGAGGTCACGGCCACGCCA TGTGCAGAGGTCACAGCCACACTGGGTGCGGAGGTCACGGCCACACTGGG TGCGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTG CGGAGGTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACGCTGGGTGCGG AGGTCGCGGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGGGGAG GTCGCGGCCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970672	C C	CGTGGCCG others(232): Show CGTGGCCGCGACCTCCGCACCCAGCGTGGCCGCGACCTCCCCACCCAGCG TGGCCGCGACCTCCGCACCCAGCGTGGACTGACCTCCGCACCCAGCGTGG CCGTGACCTCCGCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCC GTGACCTCCGCACCCAGTGTGGCCGTGACCTCCGCACCCAGTGTGGCTGT GACCTCTGCACATGGCGTGGCCGTGACCTCCGCACCCAGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01515.hp2 HG01516.hp2 HG01192.hp2 HG01515.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0036 a0001c0001t0004 a0001c0001t0036	a0001c0001t0004g0238 a0001c0001t0004g0245 a0001c0001t0036g0244 a0001c0001t0004g0238 a0001c0001t0004g0245 a0001c0001t0036g0244	3	266	0.0113	239	c.460 others(256): Show c.460-4927_460-4926insACTGGGTGCGGAGGTCACGGCCACGCCA TGTGCAGAGGTCACAGCCACACTGGGTGCGGAGGTCACGGCCACACTGGG TGCGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTG CGGAGGTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACGCTGGGTGCGG AGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGAG GTCGCGGCCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(232): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGG AGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGA GGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	298	0.0034	239	c.51+ others(252): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCC ATCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCT CCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(232): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGG GGGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGAG GGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAG GAGGGGGATGGACTGGGGAGGAGGGGGATGGACTTGGGGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0142 a0002c0006t0001g0142	1	298	0.0034	239	c.51+ others(252): Show c.51+438_51+439insTCCCCAAGTCCATCCCCCTCCTCCCCAGTCCA TCCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCC CCCTCCCCCTCCCCCTCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCC TCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTC TCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(232): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGAG GGGGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGA GGGGAGGGGGAGAGGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGA GGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	298	0.0034	239	c.51+ others(252): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCCTCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCATCCCCC TCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTC TCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(232): Show GGGAGGGAGAGGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGA GAGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAG GGGGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGA GGGGAGGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGA GGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	298	0.0034	239	c.51+ others(252): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCCT CCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCCTC TCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(232): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	330	0.0030	239	c.431 others(256): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar

Search by Variant

Search

Search Results