Joint Open Genome and Omics Platform (JoGo)

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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
GLB1L2_chr11_134326988_134381324	134369578	G G	GTGCTGGG others(173): Show GTGCTGGGATTACAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTG GCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACAAGCGATCC TCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCA CAAGCGATCCTCCTGCCTTGGCCTCCCAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0022 a0001c0015t0022	a0001c0015t0022g0187 a0001c0015t0022g0187	1	414	0.0024	180	c.102 others(197): Show c.1028-217_1028-216insACAGGTGTGAGCCACTGCACAAGCGATC CTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGC ACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGT GAGCCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGA TT	GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L2_chr11_134326988_134381324	134369578	G G	GTGCTGGG others(173): Show GTGCTGGGATTATAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTG GCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACAAGCGATCC TCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCA CAAGCGATCCTCCTGCCTTGGCCTCCCAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02615.hp2 HG00741.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0184 a0001c0001t0001g0185	2	414	0.0048	180	c.102 others(197): Show c.1028-217_1028-216insATAGGTGTGAGCCACTGCACAAGCGATC CTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGC ACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGT GAGCCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGA TT	GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L2_chr11_134326988_134381324	134369578	G G	GTGCTGGG others(173): Show GTGCTGGGATTATAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTG GCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACAAGCGATCC TCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCA CAAGCGATCCTCCTGCCTTGGCCTCCCAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	414	0.0024	180	c.102 others(197): Show c.1028-217_1028-216insATAGGTGTGAGCCACTGCACAAGCGATC CTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGC ACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGT GAGCCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGA TT	GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIPR1L2_chr12_75386089_75437688	75433540	T T	TTATATAT others(173): Show TTATATATATATATAATGGATTATATATATATATATAATGGATTATATAT ATATATATAATGGATTATATATATATATATAATGGATTATATATATATAT ATATAATGGATTATATATATATATATAAAATGGATTATATATATATATAT ATATATATATAATGGATTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0143 a0001c0002t0002g0143	1	360	0.0028	180	c.23 others(191): Show c.2379_*2380insTATATATATATATAATGGATTATATATATATATA TAATGGATTATATATATATATATAATGGATTATATATATATATATAATGG ATTATATATATATATATATAATGGATTATATATATATATATAAAATGGAT TATATATATATATATATATATATATAATGGATTATATATATATATA	GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding		853		chr12	TogoVar
GLIS2_chr16_4311067_4344595	4344388	G G	GTGAGAGG others(173): Show GTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTCTGAGAGG AGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	395	0.0025	180	c.68 others(191): Show c.6864_*6865insTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGG GGGTTCTCTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAG GAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTC	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4794		chr16	TogoVar
GNG7_chr19_2506219_2707694	2639839	A A	AGGGAGGG others(173): Show AGGGAGGGAAGGAAGGAAGGGGAGGGAGAAAGGAAGGAAGGAGGGAGGGA GAGAGGGAAGGAGGGAGGGAGAAAGGAAGGAGGGAGTGAAGGAAGAAAGG AAGGAGGGAGAGAGGAAGGAGGGAAGGAAGGAGGGGGGAGGGAGGGAAGG AAGAAAGAAGAGAGGGAGGGAAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0171 a0001c0001t0057g0171	1	206	0.0049	180	c.-78 others(197): Show c.-78+6205_-78+6384dupCCTCCCTCCTTCCCTCCCTCTCTTCTTT CTTCCTTCCCTCCCTCCCCCCTCCTTCCTTCCCTCCTTCCTCTCTCCCTC CTTCCTTTCTTCCTTCACTCCCTCCTTCCTTTCTCCCTCCCTCCTTCCCT CTCTCCCTCCCTCCTTCCTTCCTTTCTCCCTCCCCTTCCTTCCTTCCCTC CC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GPR146_chr7_1039546_1064261	1060001	T T	TTAGTGGG others(173): Show TTAGTGGGGCGGGTCTGTAGTGGGGCGGGTCCGTAGTGAGGCGGGTCTTA GTGAGGCGGGTCTTAGTGAGGCGGGTCTTAGTGGGGCGGGTCCGTAATGA GGCGGGTCTTAGGCAGGCCCGTAGTGGGGCGGGTCTTAGTGGGGCGGGTC TTAGTGGGGCGGGTCTGTAGTGGGGCGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	434	0.0023	180	c.14 others(191): Show c.1484_*1485insTAGTGGGGCGGGTCTGTAGTGGGGCGGGTCCGTA GTGAGGCGGGTCTTAGTGAGGCGGGTCTTAGTGAGGCGGGTCTTAGTGGG GCGGGTCCGTAATGAGGCGGGTCTTAGGCAGGCCCGTAGTGGGGCGGGTC TTAGTGGGGCGGGTCTTAGTGGGGCGGGTCTGTAGTGGGGCGGGTC	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding		741		chr7	TogoVar
GRAMD1B_chr11_123425269_123632767	123457126	A A	AAAGAAAG others(173): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0070 a0001c0001t0077g0070	1	282	0.0036	180	c.375 others(199): Show c.375-23677_375-23676insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGAAAGAA AGAA	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD4_chr22_46615386_46684785	46680586	C C	CCATCCAC others(173): Show CCATCCACCCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCC ATCCATCCATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTAC CCACCCATCCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCC ATCCATCCATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01952.hp2 HG01975.hp2 others(3): Show HG00642.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02273.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0043 a0001c0001t0002 a0001c0001t0017 a0001c0001t0043	a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 others(3): Show a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0312 a0001c0001t0017g0045 a0001c0001t0043g0311	6	328	0.0183	180	c.33 others(191): Show c.3335_*3336insCATCCACCCACCCACCCACCCACCCATTCATCCA TCCATCCGTCCTTCCATCCATCCATCCACCCACCCATCCACCCATTCATC CATCCATCCACCTACCCACCCATCCATCCATCCATCAATCCATCCGTCCA TCCATCCATCCACCCATCCATCCATCCATCCACCCACCCACCCATT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		802		chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46680586	C C	CCATCCAC others(173): Show CCATCCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCC ATCCATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACCCAC CCATCCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCCATCC ATCCATCCATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19087.hp1 NA18964.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0286 a0001c0001t0002g0287	2	328	0.0061	180	c.33 others(191): Show c.3335_*3336insCATCCACCCACCCACCCACCCATTCATCCATCCA TCCGTCCTTCCATCCATCCATCCACCCACCCATCCACCCATTCATCCATC CATCCACCTACCCACCCATCCATCCATCCATCAATCCATCCGTCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCACCCACCCACCCATT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		802		chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46680586	C C	CCATCCAT others(173): Show CCATCCATCCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCC ATCCATCCATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTAC CCACCCATCCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCC ATCCATCCATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03471.hp2 NA19240.hp2 HG01884.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0185 a0001c0001t0010g0186 a0001c0001t0010g0187 a0001c0001t0010g0185 a0001c0001t0010g0186 a0001c0001t0010g0187	3	328	0.0092	180	c.33 others(191): Show c.3335_*3336insCATCCATCCACCCACCCACCCACCCATTCATCCA TCCATCCGTCCTTCCATCCATCCATCCACCCACCCATCCACCCATTCATC CATCCATCCACCTACCCACCCATCCATCCATCCATCAATCCATCCGTCCA TCCATCCATCCACCCATCCATCCATCCATCCACCCACCCACCCATT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		802		chr22	TogoVar
GRHL1_chr2_9946693_10007277	9998449	T T	TGTGTGTG others(173): Show TGTGTGTGTATATACACATATATATACGTATATATACACATATATATACG TATATATACACATATATATACGTATATATACACATATATATACGTATATA TACACATATATATACGTATATATACACATATATATACGTATATATACACA TATATATACGTATATATACACATATATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp1 HG03471.hp2 HG01175.hp2 HG01192.hp1 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0039 a0004c0004t0005g0040 a0004c0004t0005g0043 a0004c0004t0005g0039 a0004c0004t0005g0040 a0004c0004t0005g0043	3	418	0.0072	180	c.167 others(197): Show c.1678-516_1678-515insGTGTGTGTATATACACATATATATACGT ATATATACACATATATATACGTATATATACACATATATATACGTATATAT ACACATATATATACGTATATATACACATATATATACGTATATATACACAT ATATATACGTATATATACACATATATATACGTATATATACACATATATAT AC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAC others(173): Show ACACACACATATATATTATATATATATTATATATATATATTATATATATA TTATATATATATTATATATATATTATATATATATTATATATATATTATAT ATATATTATATATATATTATATATATATTATATATATATTATATATATAT TATATATATAATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	184	0.0054	180	c.912 others(199): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATAATATATATATAATATATATATAATATATATATAATATATA TATAATATATATATAATATATATATATAATATATATATAATATATATGTG TGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRTP1_chr13_113319163_113369130	113346194	G G	GACAGTGG others(173): Show GACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGAC CTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGAC CCAGGAGCACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCC GAGAGCAGACCCAGGAGGACCTCTGTGGACA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	288	0.0035	180	c.466 others(197): Show c.466-1236_466-1235insTGTCCACAGAGGTCCTCCTGGGTCTGCT CTCGGCCACAGAGGTCCTCCCGGGTCTGCTCTTTGCCACAGAGGTGCTCC TGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCTGTTCTCGGCCACA GAGGTCCTCCTGGGTCTGCTCTTTGCCACAGAGGTCCTCCCGGGTCCACT GT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346200	A A	AGACCCAG others(173): Show AGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGT GGCTGAGAGTGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGA GGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGC AGACCCAGGAGGATCTCTGTGGCTGACAGTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	288	0.0035	180	c.466 others(197): Show c.466-1242_466-1241insCACTGTCAGCCACAGAGATCCTCCTGGG TCTGCTCTCAGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGG TCCTCCCGGGTCTGCTCTTTGCCACAGAGGTCCTCCCAGGTCCACTCTCA GCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGG TC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346331	C C	CCTCTGTG others(173): Show CCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAGAGAGCAGA CCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGC AGAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGA CCTCTGTGGCTGAGAGCAGACCCAGGAGGAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	288	0.0035	180	c.466 others(197): Show c.466-1373_466-1372insATCCTCCTGGGTCTGCTCTCAGCCACAG AGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCTGCTC TCTGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC GGGTCTGCTCTCTGCCACAGAGGTCCTCCCAGGTCCGCTCTCAGCCACAG AG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346672	G G	GAGCAGAC others(173): Show GAGCAGACCTGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGCACCT CTGTGGCTGAGCGGATCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAG GAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGA ACAGACCCGGGAGGACCTCTGTGGCCGAGAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	288	0.0035	180	c.466 others(197): Show c.466-1714_466-1713insTTCTCGGCCACAGAGGTCCTCCCGGGTC TGTTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTC CTCCTGGGTCTGCTCTTTGCCACAGAGGTCCTCCCGGATCCGCTCAGCCA CAGAGGTGCTCCTGGGTCCGCTCTCGGCCACAGAGGTCCTCCCAGGTCTG CT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346907	T T	TGAGAACA others(173): Show TGAGAACAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGA CCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCAGA CCCAGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGC TGAGAACAGACCCAGGAGGACCTCTGTGGCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	288	0.0035	180	c.466 others(197): Show c.466-1949_466-1948insGGCCACAGAGGTCCTCCTGGGTCTGTTC TCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCT GGGTCTGCTCTCAGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAG AGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCTGGGTCTGTTC TC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653213	C C	CCCCCCTC others(173): Show CCCCCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0121 a0001c0001t0069g0121	1	290	0.0035	180	c.427 others(197): Show c.427-1065_427-1064insCCCCCTCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCC CCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTC CT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653264	T T	TCCTCCTC others(173): Show TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC CCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCCCCTCCTCCTC TTCCCTCCTCCTCCTCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0116 a0004c0007t0010g0116	1	290	0.0035	180	c.427 others(197): Show c.427-1003_427-1002insCCCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCCCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCC CCTCCTCCTCTTCCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCRTR2_chr6_55169515_55287617	55274278	C C	CATATATT others(173): Show CATATATTTTATGAAATATATATACTTATATATATATTTTATGAAATATA TATACTTATATATATATTTTATGAAATATATATACTTATATATATATTTT ATGAAATATATATACTTATATATATATTTTATGAAATATATATACTTATA TATATATTTTATGAAATATATATACTTATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	368	0.0027	180	c.763 others(197): Show c.763-3026_763-3025insATATATACTTATATATATATTTTATGAA ATATATATACTTATATATATATTTTATGAAATATATATACTTATATATAT ATTTTATGAAATATATATACTTATATATATATTTTATGAAATATATATAC TTATATATATATTTTATGAAATATATATACTTATATATATATTTTATGAA AT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(173): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0103 a0001c0001t0010g0103	1	156	0.0064	180	c.221 others(199): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCCT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(173): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0047 a0001c0001t0007g0047	1	156	0.0064	180	c.221 others(199): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(173): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	156	0.0064	180	c.221 others(199): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(173): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01081.hp2 others(14): Show HG00639.hp1 HG00741.hp2 HG01081.hp2 HG01169.hp1 HG01175.hp1 HG01361.hp2 HG01891.hp2 HG02027.hp2 HG02523.hp1 HG03492.hp1 HG03942.hp1 HG04199.hp1 HG06807.hp1 NA18939.hp1 NA18970.hp2 NA18984.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0028 a0001c0001t0033 a0001c0001t0043 a0001c0002t0003 a0001c0005t0005 a0001c0008t0024 a0001c0009t0002	a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0094 others(14): Show a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0003g0110 a0001c0001t0003g0130 a0001c0001t0004g0128 a0001c0001t0005g0003 a0001c0001t0005g0076 a0001c0001t0005g0143 a0001c0001t0016g0101 a0001c0001t0028g0069 a0001c0001t0033g0119 a0001c0001t0043g0038 a0001c0002t0003g0067 a0001c0005t0005g0106 a0001c0008t0024g0122 a0001c0009t0002g0065	17	156	0.1090	180	c.221 others(199): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(173): Show TTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 NA21309.hp1 HG01109.hp1 HG02145.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0003t0015 a0001c0004t0040 a0001c0001t0004 a0001c0003t0015 a0001c0004t0040	a0001c0001t0004g0117 a0001c0003t0015g0004 a0001c0004t0040g0016 a0001c0001t0004g0117 a0001c0003t0015g0004 a0001c0004t0040g0016	3	156	0.0192	180	c.221 others(199): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(173): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0024 a0001c0001t0010g0024	1	156	0.0064	180	c.221 others(199): Show c.2215-6727_2215-6726insTTCCTTCCTTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HEATR4_chr14_73473484_73563947	73546924	T T	TAAAAATA others(173): Show TAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0086 a0005c0008t0001g0086	1	368	0.0027	180	c.-15 others(201): Show c.-152+11826_-152+11827insTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAAATTTTTGT ATTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	1/17			chr14	TogoVar
HERC6_chr4_88373852_88448097	88379901	A A	AATATATA others(173): Show AATATATATAATATATAAATATATATATAACATATAAATATATATAATAT ATAAATATATATATAACATATAAATATATATAATATATAAATATATATAT AACATATAAATATATATAATATATAAATATATATAATATATAAATATATA TATAATATATAAATATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0057 a0004c0004t0001g0057	1	174	0.0058	180	c.199 others(195): Show c.199+807_199+808insTAACATATAAATATATATAATATATAAATA TATATATAACATATAAATATATATAATATATAAATATATATATAACATAT AAATATATATAATATATAAATATATATAATATATAAATATATATATAATA TATAAATATATATAATATATAAATATATATATAATATATAAATATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TATATTTT others(173): Show TATATTTTATTTTATTTTATTTTTGTATTTTATTTTATTATTTTATTTTA TTTTATTATTTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0040 a0003c0003t0040	a0003c0003t0040g0109 a0003c0003t0040g0109	1	394	0.0025	180	c.41- others(195): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATATAAAAATAATAAA ATAAAATAAAATAATAAAATAAAATACAAAAATAAAATAAAATAAAATAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTTATT others(173): Show TTTTTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTTTTATTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0266 a0002c0002t0002g0266	1	394	0.0025	180	c.41- others(195): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HPCAL1_chr2_10297904_10432604	10399379	C C	CCACCACC others(173): Show CCACCACCACCACCACCATCACCACCACCATCACCACCACCACCATCACC ACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCAT CACCACCACAACCACCACCACCACCATCACCACCATCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	314	0.0032	180	c.-25 others(197): Show c.-25+2488_-25+2489insTCACCACCACCACCATCACCACCACCAC CACCATCACCACCACCACCACCATCACCACCACCACCACCATCACCACCA CAACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCAC CA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HRAS_chr11_527242_540576	530578	G G	GAGAAGGG others(173): Show GAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCG AGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGA AGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTG GAGAGAAGGGCCAGTGTGGCGTCCCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02109.hp1 HG02451.hp1 others(8): Show HG01074.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp2 HG02809.hp2 HG02896.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0028 a0001c0002t0001g0003 a0001c0002t0001g0028	11	397	0.0277	180	c.19 others(191): Show c.1949_*1950insGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAG GGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT CTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCACACTCGA CGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCGCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1663		chr11	TogoVar
IKZF3_chr17_39752718_39869312	39850645	C C	CATATAGT others(173): Show CATATAGTATATATACTATATAGCATATTAGATATGTATATATATTATAT AGTATATATACTATATAGCATATTATATATGTATATATAATATATAGTAT ATATACTATATATTATATATACATATATAATATGCTATATAGTATATATA CTATATAATATATATACATATATAATATGCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0140 a0001c0001t0021g0140	1	256	0.0039	180	c.7+1 others(195): Show c.7+13474_7+13475insAGCATATTATATATGTATATATATTATATA GTATATATACTATATAGCATATTATATATGTATATATAATATATAGTATA TATACTATATATTATATATACATATATAATATGCTATATAGTATATATAC TATATAATATATATACATATCTAATATGCTATATAGTATATATACTATAT	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7			chr17	TogoVar
IKZF3_chr17_39752718_39869312	39850645	C C	CATATAGT others(173): Show CATATAGTATATATACTATATAGCATATTAGATATGTATATATATTATAT AGTATATATACTATATAGCATATTATATATGTATATATAATATATAGTAT ATATACTATATATTATATATACATATATAATATGCTATATAGTATATATA CTATATATTATATATACATATATAATATGCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02886.hp1 others(4): Show HG02622.hp2 HG02630.hp2 HG02886.hp1 HG02965.hp2 HG03195.hp2 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0054 others(1): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0054 a0001c0001t0058	a0001c0001t0007g0136 a0001c0001t0007g0139 a0001c0001t0007g0145 others(4): Show a0001c0001t0007g0136 a0001c0001t0007g0139 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0021g0137 a0001c0001t0054g0138 a0001c0001t0058g0144	7	256	0.0273	180	c.7+1 others(195): Show c.7+13474_7+13475insAGCATATTATATATGTATATATAATATATA GTATATATACTATATAGCATATTATATATGTATATATAATATATAGTATA TATACTATATATTATATATACATATATAATATGCTATATAGTATATATAC TATATAATATATATACATATCTAATATGCTATATAGTATATATACTATAT	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7			chr17	TogoVar
IL17RA_chr22_17080000_17120693	17094667	C C	CTATATAT others(173): Show CTATATATATATATATATGTGTATATATATATATATATATATATATGTGT ATATATATATATATATATATATATGTGTGTATATATATATATATATATAT ATGTGTGTATATATATATATATATATATATGTGTGTATATATATATATAT ATATATATATGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0019 a0002c0005t0011g0019	1	416	0.0024	180	c.139 others(197): Show c.139-2394_139-2393insATATATATATATATATGTGTATATATAT ATATATATATATATATGTGTATATATATATATATATATATATATGTGTGT ATATATATATATATATATATATGTGTGTATATATATATATATATATATAT GTGTGTATATATATATATATATATATATATGTGTGTGTATATATATATAT AT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(173): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01106.hp2 others(12): Show HG00738.hp1 HG01069.hp1 HG01106.hp2 HG01255.hp1 HG01515.hp1 HG03041.hp2 HG03710.hp1 HG04204.hp2 NA18946.hp1 NA18947.hp1 NA18955.hp1 NA18964.hp1 NA19005.hp1 NA19063.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0003t0002 a0002c0002t0003 a0002c0002t0040 a0003c0004t0016	a0001c0001t0004g0066 a0001c0001t0004g0069 a0001c0001t0004g0254 others(11): Show a0001c0001t0004g0066 a0001c0001t0004g0069 a0001c0001t0004g0254 a0001c0001t0004g0314 a0001c0001t0005g0027 a0001c0001t0005g0068 a0001c0001t0005g0107 a0001c0001t0020g0108 a0001c0003t0002g0303 a0002c0002t0003g0260 a0002c0002t0003g0262 a0002c0002t0040g0261 a0003c0004t0016g0067 a0003c0004t0016g0073	15	440	0.0341	180	c.103 others(197): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCG CC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14			chr22	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(173): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCCTCCCCT CCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCC ATCCCCTCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCGTC CCCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0107 a0001c0001t0007g0107	1	135	0.0074	180	c.703 others(201): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCT CCCCTCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTCCCCCTCCCCTCCC CTCCCCTTCCCCTCCCGTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTT CCCTTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1361090	T T	TCTGTCTC others(173): Show TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTG TCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTC TCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTC TCCCTTCCCCTCTGTCTCTCTCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp2 HG06807.hp1 others(1): Show HG02922.hp1 HG03471.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0036 a0001c0001t0003g0105 a0001c0001t0003g0114 others(1): Show a0001c0001t0003g0036 a0001c0001t0003g0105 a0001c0001t0003g0114 a0001c0001t0013g0091	4	115	0.0348	180	c.759 others(197): Show c.759+2251_759+2252insGTCTCTCTCTCCCTTCCCCTCTCTCTCT CTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCT TCCCCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT CT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1361090	T T	TCTGTCTC others(173): Show TCTGTCTCTCTCTCCTTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTG TCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTC TCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTC TCCCTTCCCCTCTGTCTCTCTCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	115	0.0087	180	c.759 others(197): Show c.759+2217_759+2218insTTTCCCCTCTCTGTCTCTCTCTCCCTTC CCCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCT GTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTGTCTCTCTCT CC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IPCEF1_chr6_154149496_154361803	154354404	T T	TCTCCACC others(173): Show TCTCCACCACCACCTCCACCACCACCTCCACCATCTCCTCCACCACCACC TCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACAACCACCTC CACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCA CCATCTCCTCCACCACCACCTCCACCATCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG02622.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0260 a0001c0001t0007g0259 a0001c0001t0004g0260 a0001c0001t0007g0259	2	264	0.0076	180	c.-62 others(197): Show c.-62+2267_-62+2268insGAGATGGTGGAGGTGGTGGTGGAGGAGA TGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATG GTGGAGGTGGTTGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGT GGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGTGGTGGTGG AG	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
ITPR2_chr12_26330352_26838194	26784255	A A	ATCTCCCT others(173): Show ATCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	142	0.0070	180	c.163 others(197): Show c.163+5901_163+5902insGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
KALRN_chr3_124028369_124731325	124110027	G G	GATATATA others(173): Show GATATATATGACATATATGTCATACTTTGATATATATATGACATATATGT CATACTTTGATATATATATGACATATATGTCATACTTTGATATATATATG ACATATATGTCATACTTTGATATATATATGACATATATGTCATACTTTGA TATATATATGACATATATGTCATACTTTGAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0014 a0001c0059t0014	a0001c0059t0014g0076 a0001c0059t0014g0076	1	116	0.0086	180	c.73+ others(197): Show c.73+76352_73+76531dupGTCATACTTTGATATATATATGACATAT ATGTCATACTTTGATATATATATGACATATATGTCATACTTTGATATATA TATGACATATATGTCATACTTTGATATATATATGACATATATGTCATACT TTGATATATATATGACATATATGTCATACTTTGATATATATATGACATAT AT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673442	A A	ACATATAG others(173): Show ACATATAGAATATATATGTATATCCTGTATGTATATACATATAGAATATA TATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0012 a0001c0010t0002g0012	1	116	0.0086	180	c.694 others(197): Show c.6943-851_6943-850insGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATACATATAGAATATATATGTATATCCTGTATGTAT AT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673514	A A	ACATATAG others(173): Show ACATATAGAATATATATGTATATCCTGTATGTATATACATATAGAATATA TATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp1 HG02896.hp1 others(2): Show HG02486.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0012 others(1): Show a0001c0004 a0001c0008 a0001c0012 a0001c0065	a0001c0004t0004 a0001c0008t0004 a0001c0012t0004 others(1): Show a0001c0004t0004 a0001c0008t0004 a0001c0012t0004 a0001c0065t0009	a0001c0004t0004g0113 a0001c0008t0004g0021 a0001c0008t0004g0022 others(2): Show a0001c0004t0004g0113 a0001c0008t0004g0021 a0001c0008t0004g0022 a0001c0012t0004g0107 a0001c0065t0009g0093	5	116	0.0431	180	c.694 others(197): Show c.6943-815_6943-814insACATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT AT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNIP_chr16_27545144_27785344	27713703	T T	TACATATT others(173): Show TACATATTATATATATGTGTGTGTATATATATACACACACATATATATAT ATGTATGTGTATATATATACACATACATATTATATATATGTGTGTGTATA TATATACACATACATATTATATATATGTGTGTGTATATATATACACATAC ATATTATATATATGTGTGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG03471.hp2 HG02965.hp2 HG03453.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136	3	152	0.0197	180	c.160 others(199): Show c.1605+4808_1605+4809insATATATACACACACATATATATATAT GTATGTGTATATATATACACATACATATTATATATATGTGTGTGTATATA TATACACATACATATTATATATATGTGTGTGTATATATATACACATACAT ATTATATATATGTGTGTGTATATATATACACATATTATATATATGTGTGT GTAT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNG2_chr18_79792938_79905100	79807785	G G	GCGCTGAC others(173): Show GCGCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGC CCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	312	0.0032	180	c.-11 others(199): Show c.-115+9792_-115+9793insCGGGCCCAGAGTCCGCGCTCTGAGGA GCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCTC GCCCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCC CAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCAC GTTA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79807847	G G	GCTGACCA others(173): Show GCTGACCACACTCCACGTTACGGTCCCAGAGTCCGCGCCCTGAGGAGCTG CCGGGGCCGCGCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTACGGTCCCAGA GTCCTCGCCCTGAGGAGCTGCCGGGGACACA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0078 a0001c0011t0001g0078	1	312	0.0032	180	c.-11 others(199): Show c.-115+9852_-115+9853insCGGTCCCAGAGTCCGCGCCCTGAGGA GCTGCCGGGGCCGCGCTGACCACACTCCACGTTACGGGCCCAGAGTCCGC GCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTACGGTCC CAGAGTCCTCGCCCTGAGGAGCTGCCGGGGACACACTGACCACACTCCAC GTTA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808047	C C	CGGGCCCA others(173): Show CGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACAC GCTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAGGAGCTG CCGGGGCCGCGCTGACCACACTCCACGTTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03579.hp1 HG02258.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0226 a0001c0005t0001g0227 a0001c0005t0001g0226 a0001c0005t0001g0227	2	312	0.0064	180	c.-11 others(201): Show c.-115+10035_-115+10036insGCCCAGAGTCCGCGCTCTGAGGAG CTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCG CTCTGAGGAGCTGCCGGGGACACGCTGACCACACTCCACGTTACGGTCCC AGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACG TTATGG	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808785	T T	TCTGAGGA others(173): Show TCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTACGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGT TACGGGCCCAGAGTCCGCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCA CACTCCACGTTACGGTCCCAGAGTCCTCGCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0297 a0001c0005t0001g0297	1	312	0.0032	180	c.-11 others(201): Show c.-115+10790_-115+10791insGCGCTGACCACACTCCACGTTACG GGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACT CCACGTTACGGGCCCAGAGTCCGCGCCCTGAGGAGCTGCCGGGGCCGCGC TGACCACACTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAGGAGCTGCC GGGGCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar

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