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
IHO1_chr3_49194498_49263106	49200464	C C	CGAAAGAA others(93): Show CGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAG AAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0028 a0002c0003t0002g0028	1	177	0.0056	100	c.-16 others(115): Show c.-16+891_-16+892insGAAAGAAAGAAAGAAAGAAAGAGAGAAAGA GAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGA AAGAAAGAAAGAAAGAAAGA	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7			chr3	TogoVar
IL1RL1_chr2_102306563_102357037	102311973	T T	TATATATA others(93): Show TATATATATTATATATAATATTATATATAATATATATTATATATAATATT ATATATAATATATATTATATATAATATTATATATAATATATATTATATAT A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19011.hp1 NA18977.hp2 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	2	320	0.0063	100	c.-15 others(117): Show c.-150+357_-150+358insTTATATATAATATTATATATAATATATA TTATATATAATATTATATATAATATATATTATATATAATATTATATATAA TATATATTATATATAATATATA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
IL2RA_chr10_6005689_6067367	6055839	T T	TCCCCCCA others(93): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGA CTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0042 a0001c0001t0017g0042	1	378	0.0026	100	c.64+ others(115): Show c.64+6248_64+6249insGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGAGTCGGCCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGG	IL2RA	ENSG00000134460.19	transcript	ENST00000379959.8	protein_coding	1/7			chr10	TogoVar
INVS_chr9_100094243_100307175	100299554	C C	CAACACAC others(93): Show CAACACACACACACACACACACACACACACACACACACACACACACACAC ACAGCCTTGCAAACCACCCACCAAGAATCTCAGCAGAGCCTTTTATTGAC A	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19043.hp1 HG02451.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0010 a0001c0001t0005g0005 a0001c0001t0005g0010	2	178	0.0112	100	c.309 others(117): Show c.3092-978_3092-977insCACACACACACACACAGCCTTGCAAACC ACCCACCAAGAATCTCAGCAGAGCCTTTTATTGACAAACACACACACACA CACACACACACACACACACACA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100299557	C C	CACACACA others(93): Show CACACACACACACACACACACACACACACACACACACACACACACACACA CAGCCTTGCAAACCACCCACCAAGAATCTCAGCAGAGCCTTTTATTGACA A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0012 a0001c0001t0005g0013	2	169	0.0118	100	c.309 others(117): Show c.3092-978_3092-977insCACACACACACACACACAGCCTTGCAAA CCACCCACCAAGAATCTCAGCAGAGCCTTTTATTGACAAACACACACACA CACACACACACACACACACACA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IPCEF1_chr6_154149496_154361803	154331405	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAAAGAAAGAGAGAGAGAGA AAGAAAGAGAACGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0243 a0002c0003t0008g0243	1	96	0.0104	100	c.-62 others(119): Show c.-62+25266_-62+25267insCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCGTTCTCTTTCTTTCTCTCTCTCTCTTTCTTTTTCTCT CTCTCTCTTTCTTTCTTTCTTTCT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IQGAP2_chr5_76398285_76713132	76699615	C C	CTCTCTCT others(93): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCG TGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGT T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0007 a0001c0003t0008g0007	1	218	0.0046	100	c.436 others(119): Show c.4368-1419_4368-1418insACTCTCGTGCTCTCTCTCTCTCCATA TATAGTTCATTTGCTTCAGGCTTCTCTCTGTTTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76699619	C C	CCTCTCTC others(93): Show CCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCG TGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGT T	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0096 a0002c0001t0004g0096	1	213	0.0047	100	c.436 others(119): Show c.4368-1457_4368-1456insCTCTCTCTCCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCACTCTCGTGCTCTCTCTCTCTCCATATATAGTTC ATTTGCTTCAGGCTTCTCTCTGTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35			chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCT CTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGTTTCT C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0161	1	78	0.0128	100	c.436 others(119): Show c.4368-1339_4368-1338insTCTCTCTCTCTCTCTCTCTCACTCTC GTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTG TTTCTCTCTCTCTCTCTCTCTCTC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRF3_chr19_49654572_49670857	49659996	C C	CATATACA others(93): Show CATATACACACACACACACACACCCCTGCTGTAACTGAACCATAGGCCTA GGGCTGCTGGGAGTTGTAGTTTTACACACACACACATATACACACACACA T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02258.hp2 HG03209.hp2 others(1): Show HG00735.hp1 HG02258.hp2 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	4	374	0.0107	100	c.109 others(117): Show c.1099-164_1099-163insATGTGTGTGTGTATATGTGTGTGTGTGT AAAACTACAACTCCCAGCAGCCCTAGGCCTATGGTTCAGTTACAGCAGGG GTGTGTGTGTGTGTGTGTATAT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
ITIH5_chr10_7554270_7671966	7593423	G G	GCCCCACT others(93): Show GCCCCACTCACCCCTGCAGCCTGCAGCCACCCAGCCCCACTCACCCCTGC AGCCTGCAGCCACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCAG C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	339	0.0029	100	c.940 others(117): Show c.940-7355_940-7354insGCTGGGTGGCTGCAGGCTGCAGGGGTGA GTGGGGCTGGGTGGCTGCAGGCTGCAGGGGTGAGTGGGGCTGGGTGGCTG CAGGCTGCAGGGGTGAGTGGGG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITPR1_chr3_4488348_4852506	4619598	C C	CTGCTCTC others(93): Show CTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCCCTCCCCTGCTCTCCT CTGCTCTCCCCTGCTCTCCTCTGCCCTCCCCTCCTCTCTTCTGCCCTCCC T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0003 a0001c0039t0003	a0001c0039t0003g0010 a0001c0039t0003g0010	1	174	0.0057	100	c.164 others(117): Show c.164-8152_164-8151insTCTCCCCTGCTCTCCTCTGCCCTCCCCT GCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCCCTCCCCTCCTCTCTTCT GCCCTCCCTTGCTCTCCTCTGC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26516250	A A	AGGAAAGG others(93): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0135 a0001c0003t0023g0135	1	140	0.0071	100	c.507 others(121): Show c.5074-20991_5074-20990insCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(93): Show CATATATATATATATATATATATATATATATATATATATATATACACACA TACATATATATATATATATACATACATATATATATATATATACACATACA T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0008 a0001c0055t0008	a0001c0055t0008g0066 a0001c0055t0008g0066	1	23	0.0435	100	c.163 others(119): Show c.163+14223_163+14224insATGTATGTGTATATATATATATATAT GTATGTATATATATATATATATGTATGTGTGTATATATATATATATATAT ATATATATATATATATATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
IZUMO3_chr9_24537952_24550897	24546446	C C	CTTTCTTT others(93): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	158	0.0063	100	c.-79 others(109): Show c.-798_-797insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		550		chr9	TogoVar
JAK1_chr1_64828229_64971549	64913686	A A	AGGAAGGA others(93): Show AGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0188	1	318	0.0031	100	c.-77 others(119): Show c.-77-27346_-77-27345insCTCCTTCCTTCCTTCCTTCCTTCCTT CTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTTCTTTCCTTCC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAKMIP2_chr5_147580438_147787728	147764930	G G	GAAAGAAA others(93): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0074 a0001c0003t0074	a0001c0003t0074g0236 a0001c0003t0074g0236	1	203	0.0049	100	c.-14 others(121): Show c.-149+17525_-149+17526insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132160626	G G	GGGGGGGT others(93): Show GGGGGGGTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCT GGGGGGCCTCTCGCTGTGTGATGCTGGGGGCGTGTCTTTCTGTGTGATGC T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0052 a0002c0016t0006g0052	1	152	0.0066	100	c.222 others(119): Show c.2221-2577_2221-2576insTCTCCCTGTGTGATGCTGGGGGCGTG TCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGCGT GTCTTTCTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JARID2_chr6_15241069_15527042	15415619	T T	TCGGGGCG others(93): Show TCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG03130.hp2 HG02451.hp1 HG02486.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0012 a0001c0001t0002 a0001c0002t0012	a0001c0001t0002g0055 a0001c0001t0002g0221 a0001c0002t0012g0207 a0001c0001t0002g0055 a0001c0001t0002g0221 a0001c0002t0012g0207	3	153	0.0196	100	c.323 others(117): Show c.323+5309_323+5310insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGG	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	28110448	A A	AAAAGGAA others(93): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	177	0.0056	100	c.115 others(119): Show c.115+70014_115+70015insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
KBTBD11_chr8_1968677_2011936	1990536	A A	ATGCTTGC others(93): Show ATGCTTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGCCTTG GCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAG G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0311 a0001c0002t0062g0311	1	367	0.0027	100	c.-90 others(119): Show c.-908-9745_-908-9744insTGCGGGGCCTTGGCGCCCTGTCCGGG TAGGTGCTGCCGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCT TGGCGCCCTGTCCGGGTAGGTGCT	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNH8_chr3_19143510_19540642	19206223	T T	TATATATA others(93): Show TATATATATATATATATATACCACAGTTATATATATATATATACCACAGT TATATATATATATATAAATCACAGTTTTATATATATATATAACTGTGATT G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02145.hp1 HG02280.hp1 others(2): Show HG01081.hp1 HG02145.hp1 HG02280.hp1 HG02895.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0001c0001t0001 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0082 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0082 a0001c0001t0001g0133 a0001c0009t0001g0079 a0002c0002t0001g0002	5	115	0.0435	100	c.77- others(117): Show c.77-47418_77-47417insTATATACCACAGTTATATATATATATAT ACCACAGTTATATATATATATATAAATCACAGTTTTATATATATATATAA CTGTGATTGATATATATATATA	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	21234077	C C	CATATAAC others(93): Show CATATAACGTATATTATATATAACATATATAACGTATATTATATATAACA TATATAACGTATATTATATATAACATATATAACGTATATTATATATAACA T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	46	0.0217	100	c.62- others(119): Show c.62-351468_62-351369dupATGTTATATATAATATACGTTATATA TGTTATATATAATATACGTTATATATGTTATATATAATATACGTTATATA TGTTATATATAATATACGTTATAT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ6_chr21_37602373_37921457	37677771	T T	TCCATCCA others(93): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACC CACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCACCCACCCA C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0098 a0001c0001t0068g0098	1	7	0.1429	100	c.946 others(119): Show c.946+36439_946+36440insGTGGGTGGGTGGATGGATGGGTGGGT GGGTGGATGGATGGGTGGGTGGGTGGGTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGG	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK1_chr1_233609106_233677514	233672632	T T	TATATATA others(93): Show TATATATACATATGTATATATATGTATGTATATATATACATATGTATATA TATATATGTGTATATATATATATACGTATATATATGTGTATATATATATA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG03041.hp1 HG03195.hp1 HG01069.hp1 HG03041.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0197 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0197	3	414	0.0072	100	c.11 others(111): Show c.1102_*1103insATATATACATATGTATATATATGTATGTATATAT ATACATATGTATATATATATATGTGTATATATATATATACGTATATATAT GTGTATATATATATAC	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		119		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672635	A A	ATATACAT others(93): Show ATATACATATGTATATATATGTATGTATATATATACATATGTATATATAT ATATGTGTATATATATATATACGTATATATATGTGTATATATATATATAC G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	366	0.0027	100	c.11 others(111): Show c.1105_*1106insTATACATATGTATATATATGTATGTATATATATA CATATGTATATATATATATGTGTATATATATATATACGTATATATATGTG TATATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		122		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(93): Show ATACATATGTATATATATGTATGTATATATATACATATGTATATATATAT ATGTGTATATATATATATACACGTATATATATGTGTATATATATATATAC G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	309	0.0032	100	c.11 others(111): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTATATATATATATGTGTATATATATATATACACGTATATATATGTG TATATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(93): Show ATACATATGTATATATATGTATGTATATATATACATATGTATATATATAT ATGTGTATATATATATATATACGTATATATATGTGTATATATATATATAC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG00738.hp1 others(71): Show HG00544.hp2 HG00673.hp2 HG00738.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01361.hp1 HG01433.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02738.hp2 HG03688.hp1 HG03710.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18994.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19057.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0004t0003	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 others(69): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0128 a0001c0001t0001g0281 a0001c0001t0001g0338 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0361 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0390 a0001c0001t0001g0393 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0001g0398 a0001c0001t0001g0399 a0001c0001t0001g0402 a0001c0001t0002g0105 a0001c0001t0002g0204 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0225 a0001c0001t0002g0237 a0001c0001t0002g0248 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0322 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0003g0053 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0104 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0120 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0012g0148 a0001c0004t0003g0110	74	382	0.1937	100	c.11 others(111): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTATATATATATATGTGTATATATATATATATACGTATATATATGTG TATATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(93): Show ATACATATGTATATATATGTATGTATATATATACATATGTATATATATAT ATGTGTATATATATATATATACGTATATATATGTGTGTATATATATATAC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG04115.hp1 HG03669.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0327 a0001c0001t0003g0106 a0001c0001t0002g0327 a0001c0001t0003g0106	2	310	0.0065	100	c.11 others(111): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTATATATATATATGTGTATATATATATATATACGTATATATATGTG TGTATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(93): Show ATACATATGTATATATATGTATGTATATATATACATATGTATATATATAT GTGTGTATATATATATATATACGTATATATATGTGTATATATATATATAC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02165.hp2 HG03927.hp1 others(2): Show HG00408.hp2 HG02165.hp2 HG03927.hp1 NA19062.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0374 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0374 a0001c0001t0001g0403 a0001c0001t0003g0121	5	313	0.0160	100	c.11 others(111): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTATATATATATGTGTGTATATATATATATATACGTATATATATGTG TATATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(93): Show ATACATATGTATATATATGTATGTATATATATACATATGTGTATATATAT ATGTGTATATATATATATACGTATATATATGTGTATATATATATATATAC G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	309	0.0032	100	c.11 others(111): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTGTATATATATATGTGTATATATATATATACGTATATATATGTGTA TATATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758389	T T	TATATATA others(93): Show TATATATATATATATATATATCTCCAAGGGGATATATATATATATATATA TATATATCTCCAAGGGGATATATATATATATATATATATCTCCAAGAGGG G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	230	0.0043	100	c.-67 others(119): Show c.-67-48934_-67-48933insCTCCAAGGGGATATATATATATATAT ATATATATATCTCCAAGGGGATATATATATATATATATATATCTCCAAGA GGGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758980	T T	TATATATC others(93): Show TATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGA G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	169	0.0059	100	c.-67 others(119): Show c.-67-48357_-67-48356insCTCCAAGAGGAGATATATATATATAT CTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATAT ATATATCTCCAAGAGGAGATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63445954	G G	GCCCCTGT others(93): Show GCCCCTGTCTGAGCTGGGGGGACCCTGTCCTGAGCTGGGGGGGACCCTGT CTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGG A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0313 a0001c0009t0003g0313	1	301	0.0033	100	c.388 others(115): Show c.388-591_388-590insTCCCCCAGCTCAGACAGGGCCTCCCAGCTC AGACAGGGTCCCCCAGCTCAGACAGGGTCCCCCCCAGCTCAGGACAGGGT CCCCCCAGCTCAGACAGGGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16			chr20	TogoVar
KCNT1_chr9_135697185_135800502	135733433	T T	TGCCCCCA others(93): Show TGCCCCCACACCTGCCCCTGTACCTCCCCCCACACCTGCCCCCACACCTG CCCCCACACCTGCCCTCACACCTGCCCCCACCCCACCCCGCCCCCACACC C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	7	0.1429	100	c.255 others(119): Show c.255-16654_255-16653insTGCCCCTGTACCTCCCCCCACACCTG CCCCCACACCTGCCCCCACACCTGCCCTCACACCTGCCCCCACCCCACCC CGCCCCCACACCCGCCCCCACACC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135733433	T T	TGCCCCCA others(93): Show TGCCCCCACACCTGCCCCTGTACCTCCCCCCACACCTGCCCCCACACCTG CCCCCCACACCTGCCCTCACACCCTGCCCCCACACCCCGCCCCCACACCC C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	7	0.1429	100	c.255 others(119): Show c.255-16654_255-16653insTGCCCCTGTACCTCCCCCCACACCTG CCCCCACACCTGCCCCCCACACCTGCCCTCACACCCTGCCCCCACACCCC GCCCCCACACCCCGCCCCCACACC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KHSRP_chr19_6408102_6429811	6429450	A A	AAGAAAGG others(93): Show AAGAAAGGAGGGGAGGAGGAGAGGAAAGAGGAGGGGAGGAGGAGGGAGAA AGGAGGAGGAGGAGAGGAGGAAGGAGAAAGGAGGAGGAAAGAGGAGGAGG G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	379	0.0026	100	c.-48 others(111): Show c.-4849_-4750dupCCCTCCTCCTCTTTCCTCCTCCTTTCTCCTTCCT CCTCTCCTCCTCCTCCTTTCTCCCTCCTCCTCCCCTCCTCTTTCCTCTCC TCCTCCCCTCCTTTCT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4640		chr19	TogoVar
KIAA1671_chr22_24947716_25202448	25071582	C C	CAAAGAAG others(93): Show CAAAGAAGAAAAGAAGTCTGCAATGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01256.hp1 others(18): Show HG00438.hp2 HG00738.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01891.hp1 HG02055.hp2 HG02165.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp2 HG03225.hp2 HG03239.hp1 HG03669.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18944.hp1 NA19065.hp2 NA19084.hp1 NA19091.hp2	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0009 a0016 a0026	a0001c0006 a0001c0019 a0001c0036 others(10): Show a0001c0006 a0001c0019 a0001c0036 a0001c0083 a0002c0040 a0002c0104 a0002c0107 a0008c0097 a0008c0098 a0009c0028 a0009c0064 a0016c0060 a0026c0071	a0001c0006t0002 a0001c0019t0002 a0001c0036t0002 others(11): Show a0001c0006t0002 a0001c0019t0002 a0001c0036t0002 a0001c0083t0002 a0002c0040t0005 a0002c0040t0009 a0002c0104t0002 a0002c0107t0002 a0008c0097t0002 a0008c0098t0006 a0009c0028t0002 a0009c0064t0001 a0016c0060t0002 a0026c0071t0002	a0001c0006t0002g0008 a0001c0006t0002g0092 a0001c0006t0002g0119 others(18): Show a0001c0006t0002g0008 a0001c0006t0002g0092 a0001c0006t0002g0119 a0001c0006t0002g0144 a0001c0006t0002g0153 a0001c0019t0002g0064 a0001c0019t0002g0070 a0001c0019t0002g0233 a0001c0036t0002g0241 a0001c0083t0002g0098 a0002c0040t0005g0086 a0002c0040t0009g0085 a0002c0104t0002g0141 a0002c0107t0002g0025 a0008c0097t0002g0146 a0008c0098t0006g0138 a0009c0028t0002g0051 a0009c0028t0002g0056 a0009c0064t0001g0109 a0016c0060t0002g0077 a0026c0071t0002g0018	21	246	0.0854	100	c.453 others(121): Show c.4530+22236_4530+22237insGCAATGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAGAAGAAAAGAAGTCT	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIF16B_chr20_16267104_16578448	16395356	A A	AGGGAGGG others(93): Show AGGGAGGGGAGGGGAGGAGAGGGGAGGCCAAGGGAGGGGAGGGGAGGAGA GGGGAGGCCAAGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGCCAAGGGA G	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19066.hp2 HG00735.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0122 a0001c0001t0005g0235 a0001c0001t0002g0122 a0001c0001t0005g0235	2	21	0.0952	100	c.178 others(119): Show c.1784+9456_1784+9457insCTCCCTTGGCCTCCCCTCTCCTCCCC TCCCCTCCCCTCCCTTGGCCTCCCCTCTCCTCCCCTCCCCTCCCTTGGCC TCCCCTCTCCTCCCCTCCCCTCCC	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	17/25			chr20	TogoVar
KIF17_chr1_20659014_20723007	20712606	A A	ATATTATA others(93): Show ATATTATATATATAGATATTATCTATATATATAATATAGATAATATCTAT ATATATAATATAGATAATATTATCTATATATATAATATAGATAATATTAT C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18953.hp1 HG02922.hp2 NA18953.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0002 a0001c0009t0001 a0001c0009t0002	a0001c0009t0001g0159 a0001c0009t0002g0039 a0001c0009t0001g0159 a0001c0009t0002g0039	2	288	0.0069	100	c.480 others(115): Show c.480+847_480+848insGATAATATTATCTATATTATATATATAGAT AATATTATCTATATTATATATATAGATATTATCTATATTATATATATAGA TAATATCTATATATATAATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712606	A A	ATATTATA others(93): Show ATATTATATATATAGATATTATCTATATTATATATATAGATAATATTATC TATATATATAATATAGATAATATCTATATATATAATATAGATAATATTAT C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG02280.hp1 others(6): Show HG00639.hp1 HG01099.hp1 HG02280.hp1 HG02615.hp2 HG02647.hp2 HG02886.hp2 HG03195.hp2 HG03486.hp2 HG03579.hp1	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0129 a0008c0012 a0008c0128 others(1): Show a0001c0129 a0008c0012 a0008c0128 a0010c0033	a0001c0129t0001 a0008c0012t0001 a0008c0012t0002 others(3): Show a0001c0129t0001 a0008c0012t0001 a0008c0012t0002 a0008c0012t0006 a0008c0128t0001 a0010c0033t0001	a0001c0129t0001g0355 a0008c0012t0001g0363 a0008c0012t0001g0366 others(6): Show a0001c0129t0001g0355 a0008c0012t0001g0363 a0008c0012t0001g0366 a0008c0012t0001g0367 a0008c0012t0002g0356 a0008c0012t0006g0357 a0008c0128t0001g0368 a0010c0033t0001g0353 a0010c0033t0001g0361	9	295	0.0305	100	c.480 others(115): Show c.480+847_480+848insGATAATATTATCTATATTATATATATAGAT ATTATCTATATTATATATATAGATAATATTATCTATATATATAATATAGA TAATATCTATATATATAATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF18B_chr17_44919711_44952773	44952008	T T	TATGTATA others(93): Show TATGTATATATGTATATATACGTATATATATGTATATATATATATATACG TATATATGTATATATGTATATATACATATATATGTATATATGTATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0278 a0001c0001t0012g0278	1	242	0.0041	100	c.-43 others(111): Show c.-4396_-4395insGTATATATACATATATACATATATATGTATATAT ACATATATACATATATACGTATATATATATATATACATATATATACGTAT ATATACATATATACAT	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4236		chr17	TogoVar
KIF18B_chr17_44919711_44952773	44952008	T T	TATGTATA others(93): Show TATGTATATATGTATATATACGTATATATATGTATATATGTATATATACG TATATATGTATATATGTATATATACATATATATGTATATATGTATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01169.hp1 others(9): Show HG01109.hp1 HG01167.hp1 HG01169.hp1 HG02486.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0003 a0001c0003t0006	a0001c0001t0001g0119 a0001c0001t0008g0178 a0001c0001t0008g0271 others(8): Show a0001c0001t0001g0119 a0001c0001t0008g0178 a0001c0001t0008g0271 a0001c0001t0008g0272 a0001c0001t0008g0275 a0001c0002t0003g0124 a0001c0003t0006g0044 a0001c0003t0006g0269 a0001c0003t0006g0270 a0001c0003t0006g0274 a0001c0003t0006g0282	12	253	0.0474	100	c.-43 others(111): Show c.-4396_-4395insGTATATATACATATATACATATATATGTATATAT ACATATATACATATATACGTATATATACATATATACATATATATACGTAT ATATACATATATACAT	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4236		chr17	TogoVar
KIF18B_chr17_44919711_44952773	44952008	T T	TATGTATA others(93): Show TATGTATATATGTATATATACGTATATATATGTATATATGTATATATACG TATATATGTATATATGTATATATACGTATATATGTATATATGTATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02886.hp2 others(4): Show HG01243.hp1 HG02572.hp1 HG02886.hp2 HG02976.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0009 a0001c0002t0003 a0001c0004t0009	a0001c0002t0003g0011 a0001c0002t0003g0030 a0001c0002t0003g0117 others(2): Show a0001c0002t0003g0011 a0001c0002t0003g0030 a0001c0002t0003g0117 a0001c0002t0003g0125 a0001c0004t0009g0120	7	248	0.0282	100	c.-43 others(111): Show c.-4396_-4395insGTATATATACATATATACATATATACGTATATAT ACATATATACATATATACGTATATATACATATATACATATATATACGTAT ATATACATATATACAT	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4236		chr17	TogoVar
KIF1A_chr2_240708767_240825219	240780760	C C	CCACACAG others(93): Show CCACACAGCTCCACACACACACACACACACACACAGCTCCACACACACAC ACACACACACACACAGCTCCACACACACACACACACACAGCTCCACACAC A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0243	1	325	0.0031	100	c.882 others(117): Show c.882+1829_882+1830insTGTGTGTGGAGCTGTGTGTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGTGTGTGTGTGGAGCTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781086	T T	TCCACACA others(93): Show TCCACACACACACAGCTCCACACACACACACACAGCTCCACACACACACA CAGCTCCACACACACACACACACAGCTCCACACACACACACACACACACA G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04228.hp2 HG04115.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0242 a0002c0002t0001g0244	2	326	0.0061	100	c.882 others(117): Show c.882+1503_882+1504insCTGTGTGTGTGTGTGTGTGTGTGGAGCT GTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGT GTGTGGAGCTGTGTGTGTGTGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	168002066	T T	TGAGAAGA others(93): Show TGAGAAGACACCTTCAGGCGTAGCCTCGGGCAGGTGAGTAGACACCTGAG GCGTGGCCTCGGGCAGGTGAGAAGACACCTGAGGCGTGGCCTCGGGCAGG G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0033 a0007c0009t0033	a0007c0009t0033g0141 a0007c0009t0033g0141	1	374	0.0027	100	c.-36 others(117): Show c.-369-440_-369-439insTAGACACCTGAGGCGTGGCCTCGGGCAG GTGAGAAGACACCTGAGGCGTGGCCTCGGGCAGGGGAGAAGACACCTTCA GGCGTAGCCTCGGGCAGGTGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIRREL3_chr11_126418358_127005770	126472992	A A	ACCCCCAG others(93): Show ACCCCCAGCCCCTGCCAACCAGCCCCCCACTATCCTCCCCTCTACCTAAC CCCCCCAGCCCCTGCCAACCAGCCCCCCACTATCCTCCCCTCTACCTAAC C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01517.hp1 HG02451.hp2 others(3): Show HG01361.hp2 HG01517.hp1 HG02451.hp2 NA18948.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0011 a0001c0001t0043 a0001c0002t0044 others(3): Show a0001c0001t0011 a0001c0001t0043 a0001c0002t0044 a0001c0003t0001 a0001c0004t0030 a0001c0004t0038	a0001c0001t0011g0016 a0001c0001t0043g0109 a0001c0002t0044g0111 others(3): Show a0001c0001t0011g0016 a0001c0001t0043g0109 a0001c0002t0044g0111 a0001c0003t0001g0098 a0001c0004t0030g0012 a0001c0004t0038g0074	6	72	0.0833	100	c.591 others(115): Show c.591+316_591+317insGGTTAGGTAGAGGGGAGGATAGTGGGGGGC TGGTTGGCAGGGGCTGGGGGGGTTAGGTAGAGGGGAGGATAGTGGGGGGC TGGTTGGCAGGGGCTGGGGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	5/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126473080	T T	TCTACCTA others(93): Show TCTACCTAACCCCCCAGCCCCTCCCAACCAGCCCCCCCACCATCCCCCTC GCTACCTAACCCCCCAGCCCCTCCCAACCAGCCCCCCCACCATCCCCCTC G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0039 a0001c0005t0018g0039	1	4	0.2500	100	c.591 others(115): Show c.591+228_591+229insCGAGGGGGATGGTGGGGGGGCTGGTTGGGA GGGGCTGGGGGGTTAGGTAGCGAGGGGGATGGTGGGGGGGCTGGTTGGGA GGGGCTGGGGGGTTAGGTAG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	5/16			chr11	TogoVar
KLHDC4_chr16_87702812_87770986	87726297	G G	GCCGCGCC others(93): Show GCCGCGCCTCGCCCCGTCTCCCCACGCCGCGCCTCGCCCCGTCTCCCCCA CGCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACC A	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0133 a0004c0004t0001g0133	1	244	0.0041	100	c.759 others(115): Show c.759+467_759+468insTGGTGGGGAGACGGGCGAGGCGCGGCGTGG GGAGACGGGCGAGGCGCGGCGTGGGGGAGACGGGGCGAGGCGCGGCGTGG GGAGACGGGGCGAGGCGCGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar

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