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
DMD_chrX_31114222_33216549	31284605	C C	CTTCTTCT others(186): Show CTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0027 a0027	a0027c0044 a0027c0044	a0027c0044t0003 a0027c0044t0003	a0027c0044t0003g0122 a0027c0044t0003g0122	1	125	0.0080	193	c.922 others(214): Show c.9225-23590_9225-23589insAAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGGAAGAAGAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DNAJB6_chr7_157332004_157422439	157369743	A A	AGGCCCCT others(186): Show AGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTAT TAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACAT TATTATTAAACAGGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTT AACATCATTATTAAACAGGCCTTTCATAACGTTATTATTAAACG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	368	0.0027	193	c.346 others(210): Show c.346+2301_346+2302insGTTATTATTAAACGGGCCCCTTCTTCAC ATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTC ATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGC CTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAA CAGGCCTTTCATAAC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369839	C C	CGTTATTA others(186): Show CGTTATTATTAAACGGGACCCTTCTTAACATTATTATTAAACAGGCCTTT CATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGG CCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTATTATTAA ACGAGCTCCTTCTTAACATCATTATTAAACAGGCCTTTCATAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	207	0.0048	193	c.346 others(210): Show c.346+2372_346+2373insACCCTTCTTAACATTATTATTAAACAGG CCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAA ACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTATT ATTAAACGAGCTCCTTCTTAACATCATTATTAAACAGGCCTTTCATAATG TTATTATTAAACGGG	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK1_chr10_126900428_127457516	127362885	C C	CCACACAC others(186): Show CCACACACACATACACATGCACGTCCCCCCACACACATACACATGCACAT CCCCACACACACACACACACACACACACACATGCGCATCCCCACACACAC ACACATACACATACACATCCCCCCCACACACACGCACATCCCCACACACA CGTACACATGCACATCCCCACACACACACACATGCACCTCCCCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp2 HG03225.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0020 a0001c0001 a0004c0020	a0001c0001t0002 a0004c0020t0003 a0001c0001t0002 a0004c0020t0003	a0001c0001t0002g0065 a0004c0020t0003g0033 a0001c0001t0002g0065 a0004c0020t0003g0033	2	128	0.0156	193	c.343 others(210): Show c.3432+683_3432+684insTACACATGCACGTCCCCCCACACACATA CACATGCACATCCCCACACACACACACACACACACACACACATGCGCATC CCCACACACACACACATACACATACACATCCCCCCCACACACACGCACAT CCCCACACACACGTACACATGCACATCCCCACACACACACACATGCACCT CCCCACACACACACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOP1A_chr6_83062671_83173471	83145207	A A	ATATATAT others(186): Show ATATATATTTAAAAGTATATATATATAATATATATATAATATATATAATA TGTATATATAATATATATATAATATGTATATATAATATATATATAATATA TATATAATATGTATATATATTATATATATAATATATATATAATATATATA TAATATATATATAATATATATATTTAAAAGTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	288	0.0035	193	c.554 others(210): Show c.5542-317_5542-316insTATATATTTAAAAGTATATATATATAAT ATATATATAATATATATAATATGTATATATAATATATATATAATATGTAT ATATAATATATATATAATATATATATAATATGTATATATATTATATATAT AATATATATATAATATATATATAATATATATATAATATATATATTTAAAA GTATATATATATAAT	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38			chr6	TogoVar
DPP7_chr9_137105546_137119733	137114217	C C	CCGCCCGC others(186): Show CCGCCCGCGACCCCGCCCGGCACCCACGTGCCCCGCGACCCCCGCCCGCG ACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACCCCGCCC GGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCGGCACCCGC GTGCCCCGCGACCCCCGCCCGCGACCCCGCCCGGCACCCACGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	452	0.0022	193	c.321 others(206): Show c.321+25_321+26insCACGTGGGTGCCGGGCGGGGTCGCGGGCGGGG GTCGCGGGGCACGCGGGTGCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGG CACGCGGGTGCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGGCACGCGGGT GCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGGCACGTGGGTGCCGGGCGG GGTCGCGGGCG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(186): Show ATATATATAGTATATATATACTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTGTATATATATAGTGTGTATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp1 others(2): Show HG00323.hp2 HG00741.hp2 HG01070.hp1 HG01255.hp1 HG01515.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0002 a0001c0004t0007 a0001c0007t0006 others(1): Show a0001c0004t0002 a0001c0004t0007 a0001c0007t0006 a0001c0007t0042	a0001c0004t0002g0062 a0001c0004t0007g0056 a0001c0004t0007g0064 others(2): Show a0001c0004t0002g0062 a0001c0004t0007g0056 a0001c0004t0007g0064 a0001c0007t0006g0061 a0001c0007t0042g0058	5	176	0.0284	193	c.355 others(212): Show c.355-25607_355-25606insGTATATATATACTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTGTATATATATAGTGTGTATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
ENOSF1_chr18_665318_717630	667334	A A	AGATGGAG others(186): Show AGATGGAGATGGAGATGGAGATGGTGATGGTGATGGTGATGGAGATGGAG ATGGTGATGGTGATGGTGATGGTGATGGAGATGGAGATGGAGATGGAGAT GGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG TGATGGAGATGGTGATGGTGATGGTGATGGAGATGGAGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0355 a0003c0004t0003g0355	1	335	0.0030	193	c.69 others(204): Show c.6970_*6971insACCCATCTCCATCTCCATCACCATCACCATCACC ATCTCCATCACCATCACCATCACCATCTCCATCACCATCACCATCACCAT CACCATCTCCATCTCCATCTCCATCTCCATCTCCATCACCATCACCATCA CCATCACCATCTCCATCTCCATCACCATCACCATCACCATCTCCATCTCC ATCTCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2983		chr18	TogoVar
EQTN_chr9_27279654_27302150	27282179	C C	CTTTTTTT others(186): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	444	0.0023	193	c.25 others(204): Show c.2543_*2544insTTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	EQTN	ENSG00000120160.11	transcript	ENST00000380032.8	protein_coding		2474		chr9	TogoVar
EYS_chr6_63714980_65712226	64126331	T T	TAAGAAAA others(186): Show TAAGAAAATGTGGCACATAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAATCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02451.hp2 HG02970.hp1 others(1): Show HG01169.hp1 HG02451.hp2 HG02970.hp1 HG03098.hp1	a0004 a0006 a0014 others(1): Show a0004 a0006 a0014 a0016	a0004c0024 a0006c0017 a0014c0003 others(1): Show a0004c0024 a0006c0017 a0014c0003 a0016c0022	a0004c0024t0001 a0006c0017t0001 a0014c0003t0001 others(1): Show a0004c0024t0001 a0006c0017t0001 a0014c0003t0001 a0016c0022t0001	a0004c0024t0001g0001 a0006c0017t0001g0002 a0014c0003t0001g0016 others(1): Show a0004c0024t0001g0001 a0006c0017t0001g0002 a0014c0003t0001g0016 a0016c0022t0001g0011	4	23	0.1739	193	c.642 others(214): Show c.6425-44330_6425-44329insTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGATTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTATGTGCCACATTTTCTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
FOXK2_chr17_82514732_82609602	82575992	A A	ACCAGCGT others(186): Show ACCAGCGTGTGCTCGGGTGGCGGCGGCGGGTTCGTCCACACCAGCGTGTG CTCGGGTGGCGGCGGCGGGTTCGTCCACACCAGCGTGTGTGCTCGGGTGG CGGCGGCGGGTTCGTCCACACCAGCGTGTGTGCTCGGGTGGCGGCGGCGG GTTCGTCCACACCAGCGTGTGTGCTCGGGTGGCGGCGGCGGGTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp1 NA21309.hp2 HG02630.hp2 HG02976.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0051 a0001c0001t0010 a0001c0001t0018 a0001c0001t0051	a0001c0001t0010g0021 a0001c0001t0018g0098 a0001c0001t0051g0097 a0001c0001t0010g0021 a0001c0001t0018g0098 a0001c0001t0051g0097	3	202	0.0149	193	c.909 others(210): Show c.909+4123_909+4124insCAGCGTGTGCTCGGGTGGCGGCGGCGGG TTCGTCCACACCAGCGTGTGCTCGGGTGGCGGCGGCGGGTTCGTCCACAC CAGCGTGTGTGCTCGGGTGGCGGCGGCGGGTTCGTCCACACCAGCGTGTG TGCTCGGGTGGCGGCGGCGGGTTCGTCCACACCAGCGTGTGTGCTCGGGT GGCGGCGGCGGGTTC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(186): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	215	0.0047	193	c.157 others(208): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAG GTGGGCCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586449	C C	CGGGGGGG others(186): Show CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGT GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0026 a0001c0001t0022g0026	1	244	0.0041	193	c.157 others(210): Show c.1576+249_1576+250insGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241805292	C C	CCCCCCTC others(186): Show CCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCTCC CTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	305	0.0033	193	c.11 others(204): Show c.1126_*1127insCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCT CCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGA CCTCCGCAGGCCTCCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC TCCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1006		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805331	C C	CCCCCTCA others(186): Show CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	306	0.0033	193	c.11 others(204): Show c.1165_*1166insCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1045		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805713	C C	CCCCCCTC others(186): Show CCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCGTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	311	0.0032	193	c.15 others(204): Show c.1547_*1548insCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCGTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1427		chr2	TogoVar
GANC_chr15_42268201_42358666	42320615	A A	ATTTTTGT others(186): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0005 a0013c0016t0005	a0013c0016t0005g0107 a0013c0016t0005g0107	1	259	0.0039	193	c.105 others(212): Show c.1058-1157_1058-1156insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTTTTGTATTTTT	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAN_chr16_81309962_81395809	81390998	T T	TTCCATCG others(186): Show TTCCATCGCTGACTGCCTGAGCCTCTTCCATCGCTGACTGCCTGAGCCTC TCCATCGCTGACTGCCTGAGTCTCTCCATCGCTGACTGCCTGAGTCTCTC CATCGCTGACTGCCTGAGTCTCTCCATCGCTGACTGCCTGAGCCTCTCCA TCGCTGACTGCCTGAGTCTCTCCATCGCTGACTGCCTGAGTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG03516.hp2 HG02615.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0176 a0001c0002t0177 a0001c0001t0027 a0001c0002t0176 a0001c0002t0177	a0001c0001t0027g0078 a0001c0002t0176g0031 a0001c0002t0177g0032 a0001c0001t0027g0078 a0001c0002t0176g0031 a0001c0002t0177g0032	3	67	0.0448	193	c.13 others(206): Show c.13402_*13403insTCCATCGCTGACTGCCTGAGCCTCTTCCATCG CTGACTGCCTGAGCCTCTCCATCGCTGACTGCCTGAGTCTCTCCATCGCT GACTGCCTGAGTCTCTCCATCGCTGACTGCCTGAGTCTCTCCATCGCTGA CTGCCTGAGCCTCTCCATCGCTGACTGCCTGAGTCTCTCCATCGCTGACT GCCTGAGTCTC	GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding		190		chr16	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(186): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGA GGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAGGAAGATG GGGAGGAGGAGGGGGAGTGGGGGGAGGAGGGAGAAGAAAGAGGAGGAGGA AGATGGGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	4	0.2500	193	c.590 others(210): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCCTCCTCCCCCCAC TCCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCTC CTCTTTCTTCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCCCCCACTC CCCCTCCTCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(186): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGG AGGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAGGAAGAT GGGGAGGAGGAGGGGGAGTGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGA AGATGGGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	4	0.2500	193	c.590 others(210): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACT CCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCTCC TCTTTCTTCTCCTCCTCCCCCCCCACTCCCCCTCCTCCTCCCCCCCACTC CCCCTCCTCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(186): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGGAGGAGGAGGGGGAGTGGGGGGG AGGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAGGAAGAT GGGGAGGAGGAGGGGGAGTGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGA AGATGGGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG04199.hp2 HG00673.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0088 a0001c0001t0001g0061 a0001c0001t0001g0088	2	5	0.4000	193	c.590 others(210): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACT CCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCTCC TCTTTCTTCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCCCCCCACTC CCCCTCCTCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GLB1L3_chr11_134271379_134324564	134308553	C C	CCACCACC others(186): Show CCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACC ACCACCACCACTATCACCACCATCACCATCACCACCATCACCACCATCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAAAT ACCACCACCACCACCATGTCCACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0061 a0001c0003t0001g0061	1	291	0.0034	193	c.962 others(210): Show c.962-1071_962-1070insCCACCACCACCACCATCACCATCACCAT CATCACCATCACCTCCACCACCACCACCACTATCACCACCATCACCATCA CCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCACCA CCACCATCACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GPR146_chr7_1039546_1064261	1059848	T T	TCTTAGTG others(186): Show TCTTAGTGAGGCGGGTCTTAGTGAGGCAGGTCTTAGTGGGGCGGGTCCGT AATGAGGCGGGTCTTAGGCGGGCCCGTAGTGGGGCGGGTCTTAGTGGGGC GGGTCTGTAGTGGGGCGGGTCCGTAGTGAAGCGGGTCCGTAGTGAGGCAG GTCTTAGTGGGGCGGGTCCGTAATGAGGCGGGTCTTAGGCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0094 a0001c0002t0005g0094	1	352	0.0028	193	c.13 others(204): Show c.1331_*1332insCTTAGTGAGGCGGGTCTTAGTGAGGCAGGTCTTA GTGGGGCGGGTCCGTAATGAGGCGGGTCTTAGGCGGGCCCGTAGTGGGGC GGGTCTTAGTGGGGCGGGTCTGTAGTGGGGCGGGTCCGTAGTGAAGCGGG TCCGTAGTGAGGCAGGTCTTAGTGGGGCGGGTCCGTAATGAGGCGGGTCT TAGGCAGGC	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding		588		chr7	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(186): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01975.hp2 HG03669.hp1 others(2): Show HG01928.hp1 HG01975.hp2 HG03669.hp1 NA18999.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0001t0088 others(2): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0088 a0001c0002t0005 a0001c0002t0056	a0001c0001t0001g0144 a0001c0001t0018g0123 a0001c0001t0088g0051 others(2): Show a0001c0001t0001g0144 a0001c0001t0018g0123 a0001c0001t0088g0051 a0001c0002t0005g0063 a0001c0002t0056g0064	5	123	0.0407	193	c.375 others(212): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRP_chr18_59215158_59235771	59233701	A A	ATATATAA others(186): Show ATATATAATATGTTATATAATATATAATATAATATATGATATATCACATG TTATATAATATATAATATATTATATAATATATTATATAACATATGATATA TCATATATTATATAACATGTTATATAACATGCTATATAACATATAACATG TTATATAACATGTTGTATAATATGTTATATAATATGTTATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	283	0.0035	193	c.32 others(204): Show c.3233_*3234insTATATAATATGTTATATAATATATAATATAATAT ATGATATATCACATGTTATATAATATATAATATATTATATAATATATTAT ATAACATATGATATATCATATATTATATAACATGTTATATAACATGCTAT ATAACATATAACATGTTATATAACATGTTGTATAATATGTTATATAATAT GTTATATGT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2931		chr18	TogoVar
GRP_chr18_59215158_59235771	59233720	A A	ATATATAA others(186): Show ATATATAATATAATATATGATATATCACATGTTATATAATATATAATATA TTATATAATATATTATATAACATGTGATATATCATATATTATATAACATG TTATATAACATATAACATATTATATAACATGCTATATAACATATAACATG TTATATAACATGTTGTATAATATGTTATATAATATGTTATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	399	0.0025	193	c.32 others(204): Show c.3252_*3253insTATATAATATAATATATGATATATCACATGTTAT ATAATATATAATATATTATATAATATATTATATAACATGTGATATATCAT ATATTATATAACATGTTATATAACATATAACATATTATATAACATGCTAT ATAACATATAACATGTTATATAACATGTTGTATAATATGTTATATAATAT GTTATATGT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2950		chr18	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(186): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02523.hp1 HG00597.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0177 a0001c0001t0001g0157 a0001c0001t0001g0177	2	208	0.0096	193	c.427 others(210): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(186): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC TCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCTCTCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	207	0.0048	193	c.427 others(210): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCTCTCCCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTC CCCCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACACA others(186): Show CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACA AACACATACACACGCAGACACACACACACACACACAAACAGTAAATACAT CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01361.hp1 others(2): Show HG00639.hp2 HG01167.hp1 HG01361.hp1 HG02300.hp1 NA19070.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0004 a0002c0005 a0003c0004	a0002c0005t0002 a0003c0004t0001 a0003c0004t0002 a0002c0005t0002 a0003c0004t0001 a0003c0004t0002	a0002c0005t0002g0008 a0003c0004t0001g0086 a0003c0004t0002g0087 others(1): Show a0002c0005t0002g0008 a0003c0004t0001g0086 a0003c0004t0002g0087 a0003c0004t0002g0089	5	73	0.0685	193	c.488 others(208): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG TGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HCN2_chr19_584881_622159	602200	C C	CCTCCTGC others(186): Show CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0131 a0001c0013t0001g0131	1	402	0.0025	193	c.633 others(210): Show c.633-1191_633-1190insCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(186): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18979.hp1 NA18943.hp1 NA18979.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0002 a0002c0010t0001 a0002c0010t0002	a0002c0010t0001g0263 a0002c0010t0002g0268 a0002c0010t0001g0263 a0002c0010t0002g0268	2	213	0.0094	193	c.633 others(210): Show c.633-1097_633-1096insCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HLA-DPA1_chr6_33059569_33078649	33060086	G G	GGGCAGAG others(186): Show GGGCAGAGACGCTCCTCACATCCCGGACGGGGCGGCAGGGCAGAGGTGCT CCCCACATCTCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCC AGATGTGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATG GCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG01928.hp2 others(6): Show HG00735.hp1 HG01433.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02148.hp2 NA18940.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	9	104	0.0865	193	c.52 others(204): Show c.5273_*5274insTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCT GCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCGGCCGC CATCACATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTG AGATGTGGGGAGCACCTCTGCCCTGCCGCCCCGTCCGGGATGTGAGGAGC GTCTCTGCC	HLA-DPA1	ENSG00000231389.8	transcript	ENST00000692443.1	protein_coding		4482		chr6	TogoVar
HS3ST2_chr16_22809162_22921338	22835115	A A	AAGTCTTA others(186): Show AAGTCTTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	348	0.0029	193	c.485 others(212): Show c.485+20034_485+20035insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAGTCTTAATTTTTT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HTR2C_chrX_114579086_114915061	114807196	A A	ATATACAC others(186): Show ATATACACCATGTATATATACACCATATATACACCATGTATATATACACC ATATATACACCATGTATATATACACCATATATACACCATGTATATATACA CCATATATACACCATGTATATATACACCATATATACACCATGTATATATA CACCATATATACACCATGTATATATACACCATATATATACCATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0174 a0002c0002t0004g0174	1	48	0.0208	193	c.350 others(212): Show c.350-40803_350-40802insCACCATGTATATATACACCATATATA CACCATGTATATATACACCATATATACACCATGTATATATACACCATATA TACACCATGTATATATACACCATATATACACCATGTATATATACACCATA TATACACCATGTATATATACACCATATATACACCATGTATATATACACCA TATATATACCATGTATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33323285	A A	ATATGGAA others(186): Show ATATGGAATATATATATGGAATGTATATATGTGGAATGTATATATGTGGA ATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTA TATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATATGGAATGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0102 a0003c0003t0009g0102	1	318	0.0031	193	c.-17 others(204): Show c.-1771_-1770insTATGGAATATATATATGGAATGTATATATGTGGA ATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTA TATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGGAAT GTATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1684		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323368	G G	GAATATAT others(186): Show GAATATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATGGAATATAGAG ATGGAATATATATATGGAATATAGAGATGGAATATAGAGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	3	0.3333	193	c.-16 others(204): Show c.-1688_-1687insAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATGGAATATAGAGATGGAATATATATATGGAATATAGAGATGGAATAT AGAGATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1601		chr21	TogoVar
INPP5E_chr9_136423619_136444845	136431312	C C	CCCAGGCC others(186): Show CCCAGGCCCTCACCTTTCCTCATCTCCCACCACGCCCACCCTCCCCCCAC CCGCCGCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCA GGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCA CCTTTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0044 a0001c0012t0004g0044	1	380	0.0026	193	c.155 others(210): Show c.1550-196_1550-195insCGGCGGGTGGGGGGAGGGTGGGCGTGGT GGGAGATGAGGAAAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATG AGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATGAGGAGAGG TGAGGGCCTGCGGCGGGTGGGGGGAGGGTGGGCGTGGTGGGAGATGAGGA AAGGTGAGGGCCTGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(186): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT ATATGAAATATATATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18950.hp2 NA18981.hp1 HG04204.hp2 NA18950.hp2 NA18981.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0008c0012t0001 a0001c0001t0001 a0008c0012t0001	a0001c0001t0001g0185 a0001c0001t0001g0293 a0008c0012t0001g0193 a0001c0001t0001g0185 a0001c0001t0001g0293 a0008c0012t0001g0193	3	56	0.0536	193	c.25- others(208): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(186): Show AATATATATATGATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATCATATATATATGAAATA TATATATGATATATGAAATATATATATGATATATGAAATATATATATGAT ATATGAAATATATATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	54	0.0185	193	c.25- others(208): Show c.25-1970_25-1969insATGATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATCATATA TATATGAAATATATATATGATATATGAAATATATATATGATATATGAAAT ATATATATGATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITPR2_chr12_26330352_26838194	26784357	C C	CTCCTCTC others(186): Show CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTGCCTCTCCCTCTCGCTCTCGCTCTCGCTCTCG CTCTCGCTCTCGCTCTCGCTCTCGCTCTCGCTCTCCTTCCGCGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0022 a0001c0013t0022	a0001c0013t0022g0122 a0001c0013t0022g0122	1	103	0.0097	193	c.163 others(210): Show c.163+5799_163+5800insCCGCGGAAGGAGAGCGAGAGCGAGAGCG AGAGCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGGGAGAGGCAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
JAKMIP2_chr5_147580438_147787728	147764930	G G	GAAAGAAA others(186): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0189 a0001c0005t0017g0189	1	203	0.0049	193	c.-14 others(214): Show c.-149+17525_-149+17526insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132097968	T T	TTTCCCTT others(186): Show TTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTT TCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTC CCTTCCCCTTCCCCTTCCCCTTTCCTTCCCCTTTCCCTTTCCTTCCCCTT TCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG04228.hp1 HG00597.hp2 HG04228.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0003c0002 a0002c0008 a0003c0002	a0002c0008t0017 a0003c0002t0002 a0002c0008t0017 a0003c0002t0002	a0002c0008t0017g0121 a0003c0002t0002g0111 a0002c0008t0017g0121 a0003c0002t0002g0111	2	69	0.0290	193	c.-13 others(212): Show c.-137-6704_-137-6703insTTCCCTTCCCCTTTCCCTTCCCCTTT CCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCC CTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTCCCCTTCCCCTTTCCTT CCCCTTTCCCTTTCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCC CTTCCCCTTTCCCTTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23			chr10	TogoVar
KCNK2_chr1_215077737_215242090	215209614	A A	AAATAGAT others(186): Show AAATAGATATATATAAAATATATAAAATAGACATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATATAATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG02717.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0057 a0001c0002t0058 a0001c0001t0057 a0001c0002t0058	a0001c0001t0057g0151 a0001c0002t0058g0172 a0001c0001t0057g0151 a0001c0002t0058g0172	2	159	0.0126	193	c.963 others(212): Show c.963+14522_963+14523insAATAGATATATATAAAATATATAAAA TAGACATTATATATAAAATATATATAATATATATATAAAATAGATATTAT ATATAAAATATATATTATATATTATATAAAATATATATTATATATTATAT ATAATATATATTATATATTATATATTAAATATATATTATATATATAAAAT ATATATAAAATATATAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6			chr1	TogoVar
KHSRP_chr19_6408102_6429811	6429025	A A	ATATATAT others(186): Show ATATATATATTATATATATGTTATATATATATATAATATATATATTATAT ATATGTTATATATATATATAATATATATATTATATATATGTTATATATAT ATATAATATATATATTATATATATGTTATATATATATATAATATATATAT TATATATATGTTATATATATATAATATATATATTATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG03239.hp1 HG00423.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0090 a0001c0001t0004g0004 a0001c0001t0001g0090 a0001c0001t0004g0004	2	322	0.0062	193	c.-43 others(204): Show c.-4325_-4324insACATATATATAATATATATATTATATATATATAA CATATATATAATATATATATTATATATATATATAACATATATATAATATA TATATTATATATATATATAACATATATATAATATATATATTATATATATA TATAACATATATATAATATATATATTATATATATATATAACATATATATA ATATATATA	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4215		chr19	TogoVar
KIF25_chr6_167992671_168050091	167997164	G G	GCGGGGGA others(186): Show GCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0208 a0001c0001t0041g0208	1	335	0.0030	193	c.-23 others(204): Show c.-2305_-2304insCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		506		chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(186): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	60	0.0167	193	c.317 others(210): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62360544	T T	TGGGTGGA others(186): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTG GGTGGGTGGGTGGAGGAATAGATGGGTGGGTGGATGGATAGGTGGGTGGG TGGGTGGAGGAATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTG GGTGGGTGGGTGGAGGAATAGATGGGTGGGTGGATGGATAGGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0032 a0032	a0032c0068 a0032c0068	a0032c0068t0001 a0032c0068t0001	a0032c0068t0001g0029 a0032c0068t0001g0029	1	157	0.0064	193	c.450 others(210): Show c.450+1855_450+1856insCACCTATCCATCCACCCACCCATCTATT CCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCA TCTATTCCTCCACCCACCCACCCACCTATCCATCCACCCACCCATCTATT CCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCA TCTATCCCTCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LGR6_chr1_202188799_202324761	202204790	C C	CCAAACAC others(186): Show CCAAACACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCC AAACACACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAG CACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACA CACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0172 a0003c0004t0001g0172	1	260	0.0038	193	c.212 others(212): Show c.212+10591_212+10592insAACACACACACCTAACACACAGCTTC TTCAAACACACACACACCTCCAAACACACACACACCTAACACACACCTCC TTCAAACACACAAACCTCCAGCACACACACCTAACACACACCTCCTTCAA ACACACACCTCCACACACACACACACCTAACACACACCTCCTTCAAACAC ACACACCTCCAAACACA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124506792	T T	TGGGGGGG others(186): Show TGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGG GGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	243	0.0041	193	c.624 others(210): Show c.624+8664_624+8665insGGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGACAGGATTTCAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507524	T T	TCGGGGGG others(186): Show TCGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTC GGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGCA GGGGTAGACAGGATTTCAGGTGAGCGGGGTAGGGAGGATTTCAGGTGCAG GGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	249	0.0040	193	c.624 others(210): Show c.624+9396_624+9397insCGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGCGGGG TAGGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTCGGGGGGTT AGAGAGGATTTCAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar

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