Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASAP1_chr8_130047104_130448674	130049764	T T	TGGGGGGC others(302): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAATACATGGGGGCAGAGGAGAATACATGGGGGCAGAGGAGAACAC ATGGAGGGCAGAGGGGAATACATGGGGGCAGAGGAGAACACATGGGGGGC AGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAA TACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGG GGCAGAGGGGGAACACATGGGGGCAGAGGAGAATACATGGAGGGCAGAGG AGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	258	0.0039	309	c.49 others(320): Show c.4966_*4967insCATGTGTTCTCCTCTGCCCTCCATGTATTCTCCT CTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCC CCCATGTATTCCCCTCTGCCCTCCATGTGTTCTCCTCTGCCCCCATGTAT TCTCCTCTGCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGC CCCCATGTGTTCTCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2339		chr8	TogoVar
ASXL2_chr2_25728753_25883487	25789269	T T	TAAGAATC others(302): Show TAAGAATCTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	215	0.0047	309	c.403 others(328): Show c.403+10115_403+10116insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTCAGATTCTT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12			chr2	TogoVar
ATF1_chr12_50759101_50826162	50776326	A A	AAAAAAAT others(302): Show AAAAAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01074.hp2 others(22): Show HG00140.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp2 HG01891.hp2 HG02040.hp1 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03654.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0001c0001t0001 a0001c0001t0004 a0001c0003t0004	a0001c0001t0001g0007 a0001c0001t0001g0294 a0001c0001t0001g0295 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0329 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0342 a0001c0003t0004g0296 a0001c0003t0004g0328 a0001c0003t0004g0330 a0001c0003t0004g0331 a0001c0003t0004g0334 a0001c0003t0004g0344 a0001c0003t0004g0345 a0001c0003t0004g0346	25	369	0.0678	309	c.-6- others(324): Show c.-6-3799_-6-3798insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAAAAAATTTTTTTTT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF1_chr12_50759101_50826162	50776326	A A	AAAAAAAT others(302): Show AAAAAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTG CGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0335 a0001c0001t0004g0335	1	345	0.0029	309	c.-6- others(324): Show c.-6-3799_-6-3798insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACTGCGCCCGGCCTAAAAAATTTTTTTTT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF1_chr12_50759101_50826162	50776326	A A	AAAAAAAT others(302): Show AAAAAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0336 a0001c0001t0004g0336	1	345	0.0029	309	c.-6- others(324): Show c.-6-3799_-6-3798insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAAAAAATTTTTTTTT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
AXIN1_chr16_282440_357723	285902	T T	TCCCAACC others(302): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0183 a0001c0004t0023g0183	1	348	0.0029	309	c.22 others(320): Show c.2219_*2220insGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGG GGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGC GGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGG AGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTG GGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGT TGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGTGTTGGGGTTGG GGTTGGGGTTGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1537		chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	83003159	G G	GTCCGCGT others(302): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCCCGCCCTCCCGCCCTCCGCAGTCCGCGTGTGGGATTCCTGA GCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCAC TCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGC GTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTG AGCCCGCCCTCCCGCCCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGC CCTCCCGCCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0243 a0001c0001t0022g0243	1	131	0.0076	309	c.459 others(326): Show c.459+1955_459+1956insGGGCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGACTGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGG AGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGGAGGGCGGGAGGGCG GGCTCAGGAATCCCACACGCGGACTGCAGAGAGTGGGAGGGCGAGCTCAG GAATCCCACACGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCG GACTGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGGAGGGCG GGAGGGCGGGCTCAGGAATCCCACACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAG3_chr10_119646380_119682819	119675903	C C	CCTTTCCC others(302): Show CCTTTCCCCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTT CTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCTGCTTCCTTCCCCCT TCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCC TTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCC TTCCTTCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCCCCTT CCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	405	0.0025	309	c.910 others(324): Show c.910-560_910-559insTTTCCCCCTTCCCCCCTTCCTTCCTGCCCC CTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTT CCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTC CCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCC CCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCCTT TTCCCCCCTTCCCCCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTTCCTTC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BBS9_chr7_33124564_33611069	33143869	T T	TGTGTATC others(302): Show TGTGTATCTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	227	0.0044	309	c.-11 others(326): Show c.-11-2360_-11-2359insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGTGTATCTTCTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(302): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0044 a0012c0013t0044	a0012c0013t0044g0344 a0012c0013t0044g0344	1	257	0.0039	309	c.723 others(326): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BOK_chr2_241553745_241579131	241570842	G G	GTGGGGGT others(302): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGACGTACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGCGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCT GAGCGCCTGT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	318	0.0031	309	c.513 others(324): Show c.513+554_513+555insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCG GATGGGTGAGCGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BOK_chr2_241553745_241579131	241570842	G G	GTGGGGGT others(302): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGACGTACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCT GAGCGCCTGT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	318	0.0031	309	c.513 others(324): Show c.513+554_513+555insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCG GATGGGTGAGCGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BSN_chr3_49549477_49676549	49606248	T T	TATTATAT others(302): Show TATTATATATACATATATTATATATGTATATATTATATATACATATATTA TATATGTATATATTATATATACATATATTATATATGTATATATTATATAT ACATATATAATATATGTATATATTATATATACATATATTATATATGTATT ATATATACATATATTATATATGTATATATTATATATAAAATATATATAAT ATATATTAAAAATATATATTATATATATTAAAAATATATATAATATATAT TAAAAATATATATTATATATATTAAAATATATATATAATATATATTAAAA ATATATATTA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0028 a0003c0004t0004g0028	1	141	0.0071	309	c.225 others(328): Show c.225-18727_225-18726insATTATATATACATATATTATATATGT ATATATTATATATACATATATTATATATGTATATATTATATATACATATA TTATATATGTATATATTATATATACATATATAATATATGTATATATTATA TATACATATATTATATATGTATTATATATACATATATTATATATGTATAT ATTATATATAAAATATATATAATATATATTAAAAATATATATTATATATA TTAAAAATATATATAATATATATTAAAAATATATATTATATATATTAAAA TATATATATAATATATATTAAAAATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BSN_chr3_49549477_49676549	49606248	T T	TATTATAT others(302): Show TATTATATATACATATATTATATATGTATATATTATATATACATATATTA TATATGTATATATTATATATACATATATTATATATGTATATATTATATAT ACATATATTATATATGTATATATTATATATACATATATTATATATGTATT ATATATACATATATTATATATGTATATATTATATATAAAATATATATAAT ATATATTAAAAATATATATTATATATATTAAAAATATATATAATATATAT TAAAAATATATATTATATATATTAAAATATATATATAATATATATTAAAA ATATATATTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0029 a0003c0004t0004g0029	1	141	0.0071	309	c.225 others(328): Show c.225-18727_225-18726insATTATATATACATATATTATATATGT ATATATTATATATACATATATTATATATGTATATATTATATATACATATA TTATATATGTATATATTATATATACATATATTATATATGTATATATTATA TATACATATATTATATATGTATTATATATACATATATTATATATGTATAT ATTATATATAAAATATATATAATATATATTAAAAATATATATTATATATA TTAAAAATATATATAATATATATTAAAAATATATATTATATATATTAAAA TATATATATAATATATATTAAAAATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(302): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0237 a0001c0002t0003g0237	1	312	0.0032	309	c.-42 others(320): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(302): Show TATATATATAATATATATAATATATAATATATATTATATATAATATATAT TATATATAATATATAATATATATTATATATAATATAATTATATATTATAT ATAATATTATAATATATTATATATAATATATATTATATATAATATATATT ATATATAATATATATTATATATTATATAAAATAATATTATATATAATATA TATTATATATTATATATAATATATAATATATATTATATATAATATATATT ATATAAAATATATATTATATATAATATATATTATATATTATATAATATAT ATTATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0158 a0008c0015t0001g0158	1	66	0.0152	309	c.314 others(328): Show c.314-50897_314-50896insTATATATAATATATATTATATAATAT ATAATATATATTATATATAATATATATTTTATATAATATATATTATATAT AATATATATTATATATTATATATAATATATAATATATATTATATATAATA TTATTTTATATAATATATAATATATATTATATATAATATATATTATATAT AATATATATTATATATAATATATTATAATATTATATATAATATATAATTA TATTATATATAATATATATTATATATTATATATAATATATATTATATATA ATATATATTATATATTATATATATTATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(302): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGGGGCCCCGC GGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG03669.hp1 HG01255.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0003 a0001c0001t0001g0035	2	330	0.0061	309	c.-44 others(320): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCGC CGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCGCCGCCGCC GCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACAGCGCCCCC CTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGCCGCGCCCC TGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGGCGCCCCCG GCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCGGGAGCCGCC GCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(302): Show CCGGCGGCTGTGGCGGCGGCGGCTCCCGGGCGGCGACGGCGGGCGGGGGG GCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGCGGCTGGCGC GGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGGGGCCCGGCT GCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCGGCCGCGCGG GGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGGTGGCGGCGG GGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGGGGGCCCCGC GGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	329	0.0030	309	c.-44 others(320): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCG GGAGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C20orf96_chr20_265863_295750	278941	C C	CGGGACGG others(302): Show CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCG GGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGG AGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGGCGGGACGGAGG GACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGA GGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GCGGGACGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0203 a0002c0004t0001g0203	1	350	0.0029	309	c.465 others(324): Show c.465+230_465+231insTCCGTCCCGCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCC TCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCCTCCCG CCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCT CCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C3orf52_chr3_112081389_112123210	112113165	A A	AAGTCAGA others(302): Show AAGTCAGAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCAG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	370	0.0027	309	c.649 others(322): Show c.649+31_649+32insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCAGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAGAGTCAGAGTTG	C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
C8orf34_chr8_68325955_68824023	68694256	T T	TGGGAATA others(302): Show TGGGAATATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0076 a0001c0005t0001g0076	1	126	0.0079	309	c.124 others(330): Show c.1242-14725_1242-14724insTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGGGAATATTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
CACNA1C_chr12_2047987_2702950	2407255	C C	CACATCGT others(302): Show CACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGAC CCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCA GTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCAT GACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGT GCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCAT CATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAG TGTGCAGTGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0041 a0001c0038t0041	a0001c0038t0041g0047 a0001c0038t0041g0047	1	94	0.0106	309	c.478 others(328): Show c.478-41580_478-41579insCTCATCATGACCCAGTGGGAAGGAAC GTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCC ACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGG AACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTC TCCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGA AGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATC GTCTCCACCGACACCATGTGGGTACTGGGGAGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407397	T T	TTCATCAT others(302): Show TTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTC CTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTG GGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCC GTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTA CTGGGGAGCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0060 a0001c0001t0021g0060	1	71	0.0141	309	c.478 others(328): Show c.478-41314_478-41313insAGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACA CCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCC TTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCG ACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACG TCCTTTTGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407457	A A	AGTGGACA others(302): Show AGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCA TGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCA TCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAA GTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCC TCATCATGACGCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0027 a0001c0021t0027	a0001c0021t0027g0087 a0001c0021t0027g0087	1	80	0.0125	309	c.478 others(328): Show c.478-41296_478-41295insCGACACCATGTGGGTACTGGGGAGCC TCATCATGACGCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCGGTGGACATCGTCTCCAC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407628	C C	CGTCCTTT others(302): Show CGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTC CACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAG GAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGT CTCCACTGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGG AAGGAATGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACAT CGTCTCCACTGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGT GGGAAGGAAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0063 a0001c0001t0022g0063	1	103	0.0097	309	c.478 others(328): Show c.478-41314_478-41313insAGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACTGACA CCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAATGTCC TTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACTG ACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAATG TCCTTTTGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407663	G G	GGTGGACA others(302): Show GGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCA TGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCA TCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAA GTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCC TCATCATGACCCAGTGGGAAGGAATGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	67	0.0149	309	c.478 others(328): Show c.478-41296_478-41295insCGACACCATGTGGGTACTGGGGAGCC TCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAATGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCAC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407706	C C	CTCATCAT others(302): Show CTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTC CTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTG GGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCC GTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTA CTGGGGAGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0043	1	93	0.0108	309	c.478 others(328): Show c.478-41246_478-41245insCGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCTTCATCATGACCCAGTGGGAAGGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAP1_chr1_40035729_40077648	40059014	T T	TTGCAAAT others(302): Show TTGCAAATTCTAACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTA CAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	302	0.0033	309	c.-10 others(324): Show c.-10-305_-10-304insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACT ACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGG CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCGCCCGCCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTGCAAATTCTAACTTTCT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN15_chr16_522712_559636	544777	T T	TCGTCGTC others(302): Show TCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0264 a0001c0008t0001g0264	1	405	0.0025	309	c.-22 others(326): Show c.-22-2036_-22-2035insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCCACGTCG CCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(302): Show CCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCTCACATCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0330 a0001c0001t0005g0330	1	240	0.0042	309	c.-22 others(326): Show c.-22-1985_-22-1984insCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACATCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGTCTCCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(302): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0113 a0001c0002t0002g0251 a0001c0001t0001g0113 a0001c0002t0002g0251	2	53	0.0377	309	c.143 others(328): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(302): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCC CCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCC ACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	18	0.0556	309	c.-22 others(320): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC88A_chr2_55282842_55424856	55297381	A A	AAATATAT others(302): Show AAATATATAATATATATTATATATAAATATATATAATATATATTATATAT AATATATATAATATATATAATATATATTATATATTATATATAAATATATA TAATATATATTATATAATATATATTATATATAAATATATATAATATATAA TATATATTATATATAATATATAATATATAATATATATTATATATAAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03540.hp2 HG01346.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0080 a0001c0002t0010g0082 a0001c0002t0010g0080 a0001c0002t0010g0082	2	299	0.0067	309	c.482 others(326): Show c.4826-859_4826-858insATATATTATATATATTTATATATAATAT ATATTATATATTATATATATTTATATATAATATATATTATATATTATATA TATTTATATATAATATATATTATATATTATATATATTTATATATAATATA TATTATATATTATATATTATATATAATATATATTATATATTATATATATT TATATATAATATATATTATATAATATATATTATATATATTTATATATAAT ATATAATATATATTATATATATTATATATATTATATATAATATATATTAT ATATATTTATATATAATATATATTATATATT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCDC91_chr12_28185456_28555166	28264365	T T	TAATAATT others(302): Show TAATAATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGAC TACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01071.hp1 HG01243.hp1 others(9): Show HG00323.hp2 HG01071.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG02683.hp2 HG03831.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 others(9): Show a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0242	12	218	0.0550	309	c.109 others(326): Show c.109+4936_109+4937insTTTTTTTTTTTTTTTTGAGACGGAGTTT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTA GCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTT AGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAATAATTTTTTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(302): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAACATATATATATTTATATAAATATATATATAACA TATATATATATTTATATAAATATATATATAACATATATATATTTATATAA ATATATATATAACATATATATATTTATATAAATATATATATAACATATAT ATATTTATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(59): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01943.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG03669.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18959.hp1 NA18962.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19066.hp1 NA19072.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0003g0022 a0001c0001t0009g0002 a0006c0009t0001g0089	62	295	0.2102	309	c.-29 others(326): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATATTTATATAAATATATATATAACATATATATAT TTATATAAATATATATATAACATATATATATTTATATAAATATATATATA ACATATATATATTTATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(302): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATGTATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAACATATATATATTTATATAAATATATATATAACA TATATATATATTTATATAAATATATATATAACATATATATATTTATATAA ATATATATATAACATATATATATTTATATAAATATATATATAACATATAT ATATTTATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	234	0.0043	309	c.-29 others(326): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATGTATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATATTTATATAAATATATATATAACATATATATAT TTATATAAATATATATATAACATATATATATTTATATAAATATATATATA ACATATATATATTTATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD300A_chr17_74461634_74489794	74482698	C C	CTTCCTTC others(302): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0258 a0002c0003t0003g0258	1	421	0.0024	309	c.774 others(324): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD300E_chr17_74604885_74628738	74624067	T T	TAAAACAC others(302): Show TAAAACACCCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCG GGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGCCTCAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03209.hp2 NA18993.hp1 HG02896.hp1 HG03209.hp2 NA18993.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0003 a0002c0002t0001 a0002c0002t0002 a0003c0003t0003	a0002c0002t0001g0065 a0002c0002t0002g0066 a0003c0003t0003g0028 a0002c0002t0001g0065 a0002c0002t0002g0066 a0003c0003t0003g0028	3	274	0.0109	309	c.-44 others(318): Show c.-447_-446insTTTTTTTTTTTTTTTTTTGAGGCGGAGTTTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGG ACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCGAGGGTGTTTT	CD300E	ENSG00000186407.7	transcript	ENST00000392619.2	protein_coding		330		chr17	TogoVar
CDC42SE2_chr5_131259053_131399672	131324473	T T	TCAAAGAC others(302): Show TCAAAGACTTACATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCC CCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp1 HG02647.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0240 a0001c0001t0009g0241 a0001c0001t0009g0240 a0001c0001t0009g0241	2	254	0.0079	309	c.-28 others(328): Show c.-286+8345_-286+8346insTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCAAAGACTTACATTTT	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61795134	A A	AATGGTGA others(302): Show AATGGTGATGGTGATGATGATGGTAGTGATGATGGTGATGGTAGTGATAA TGGTGATGATGATGGTGATGGTAGTGATGGTGGTGATGATGGTAATGGTA GTGATGATGGTGATGGTAGTGATAATGGTGATGATGGTGATGATGATGGT AGTAATGATGATGATGGTAGTGATGATGGTGATGGTAGTGATAATGGTGA TGATGGTGATGGCGATGGTAGTGATGGTGATGATGGTGATGATGATGGTA GTGATAATGGGGATGATGATGGTGATGGTAGTGATGATGGTGATGATGGT AATGGTAGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01081.hp2 others(16): Show HG00408.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01978.hp2 HG02040.hp1 HG02145.hp2 HG03130.hp1 HG03195.hp2 HG03704.hp1 HG04204.hp1 NA18941.hp1 NA18960.hp1 NA19030.hp1 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0020 others(5): Show a0001c0001 a0001c0003 a0001c0020 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0003t0039 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0039 a0001c0020t0006 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0013 a0002c0002t0022 a0002c0004t0001 a0002c0004t0002 a0002c0004t0021 a0002c0005t0010 a0002c0008t0024 a0005c0019t0001	a0001c0001t0001g0006 a0001c0001t0002g0007 a0001c0001t0002g0058 others(16): Show a0001c0001t0001g0006 a0001c0001t0002g0007 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0003t0039g0063 a0001c0020t0006g0093 a0002c0002t0003g0076 a0002c0002t0004g0022 a0002c0002t0011g0082 a0002c0002t0013g0061 a0002c0002t0022g0105 a0002c0004t0001g0011 a0002c0004t0002g0079 a0002c0004t0021g0050 a0002c0005t0010g0068 a0002c0008t0024g0024 a0005c0019t0001g0018	19	73	0.2603	309	c.576 others(328): Show c.576+21955_576+21956insGTGATGGTGATGATGATGGTAGTGAT GATGGTGATGGTAGTGATAATGGTGATGATGATGGTGATGGTAGTGATGG TGGTGATGATGGTAATGGTAGTGATGATGGTGATGGTAGTGATAATGGTG ATGATGGTGATGATGATGGTAGTAATGATGATGATGGTAGTGATGATGGT GATGGTAGTGATAATGGTGATGATGGTGATGGCGATGGTAGTGATGGTGA TGATGGTGATGATGATGGTAGTGATAATGGGGATGATGATGGTGATGGTA GTGATGATGGTGATGATGGTAATGGTAGTGATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDKAL1_chr6_20529457_21237404	21205830	C C	CTTTTTTT others(302): Show CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGAGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACTGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATC TGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCGC GCCCAGCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0019 a0001c0009t0004g0019	1	82	0.0122	309	c.154 others(328): Show c.1548+4578_1548+4579insTTTGAGACAGAGTCTTGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGAGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACTGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGAT CTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCG CGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(302): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTT CCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCT TACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTC CTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0008 a0006c0009t0001g0008	1	8	0.1250	309	c.69 others(320): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132888375	T T	TCACCCCT others(302): Show TCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCTGCCTTCACCCCTGCCGCC TGCACCCCTGCCGCCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCAC CCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCGCCGCCTTCACCCCTGC CGCCTGCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCT GCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCCCGCCGCCTTCACCC CTGCCGCCTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0014 a0012c0025t0002g0014	1	228	0.0044	309	c.330 others(328): Show c.3305-2417_3305-2416insCAGGCGGCAGGGGTGAAGGCGGCGGG GTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGCA GGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGCGG CGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGG TGAAGGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAG GCAGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAG GTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHRM3_chr1_239381568_239920450	239729732	T T	TAAAAATG others(302): Show TAAAAATGCGTGATGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC TGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0026 a0001c0001t0034g0026	1	112	0.0089	309	c.-14 others(330): Show c.-147+51460_-147+51461insCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCTGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAATGCGTGATGTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLPTM1L_chr5_1312752_1350099	1333123	C C	CGGATAAG others(302): Show CGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGAC TACTGTACACACACCGGATGAGGATAAGGGGGGACTACTGTACACACACC GGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGG GGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATAC ACACGGGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATAAGGGG GGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACA CACCGGATGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03688.hp2 HG02738.hp1 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0198 a0002c0003t0004g0199 a0002c0003t0004g0198 a0002c0003t0004g0199	2	315	0.0063	309	c.891 others(326): Show c.891+1165_891+1166insTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCGGTGTGTC TACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCC TTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGT GTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTGTACAGTAGTC CCCCCTTATCCTCATCCGGTGTGTGTACAGTAGTCCCCCCTTATCCTCAT CCGGTGTGTATACAGTAGTCCCCCCTTATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(302): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCC CCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0143 a0004c0010t0001g0143	1	68	0.0147	309	c.-42 others(320): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(302): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02895.hp2 others(3): Show HG02723.hp2 HG02886.hp1 HG02895.hp2 HG03225.hp2 HG06807.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0007 a0002c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003	a0001c0001t0001g0086 a0001c0001t0001g0149 a0001c0001t0007g0152 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0149 a0001c0001t0007g0152 a0002c0005t0001g0167 a0002c0005t0002g0168 a0002c0005t0003g0265	6	60	0.1000	309	c.365 others(328): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL20A1_chr20_63288186_63339806	63294164	G G	GGGGATGC others(302): Show GGGGATGCGGTGGGGGGGAGGGGGGGAGTGCGGGGGGGAGGGGGGAGGGG TGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGAGGGAGGGGG AGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGGAGGGGGAGTGCGGGGG GAGGGGAGTGCGGGGGTAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGG GAGGGGGAGTGTGGGGGGGGAGGGAGGAGCGGGCGGGGAGGGGAGAGTGG AGGCCTGGGGAGCGGAGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCT GCCGAGGAGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0134 a0001c0001t0017g0134	1	284	0.0035	309	c.-11 others(324): Show c.-11+893_-11+894insTGCGGTGGGGGGGAGGGGGGGAGTGCGGGG GGGAGGGGGGAGGGGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTG CGGGGAGGGAGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGGA GGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGTAGGGGGAGTGCGGGGGAA GGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGAGGAGCGGGCG GGGAGGGGAGAGTGGAGGCCTGGGGAGCGGAGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGA	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL5A2_chr2_189026898_189184761	189094695	C C	CAAGAAAC others(302): Show CAAGAAACATACCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	149	0.0067	309	c.457 others(326): Show c.457-2276_457-2275insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGGTATGTTTCTT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(302): Show TCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCACC CATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTC CATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCA TCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATC CGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCA CCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0306 a0001c0005t0002g0306	1	226	0.0044	309	c.13 others(320): Show c.1315_*1316insCTGTCCACCCATCTGTCCACCCATCCATCCACCC ATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCC ACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCAT CCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCC ATCCCCCCACCCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCAC TCACCCATCTGTCCACCCATTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar

Search by Variant

Search

Search Results