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
GPR173_chrX_53043789_53085615	53074501	A A	AATATATA others(277): Show AATATATATTTATATTTATTTATAAATAAATATATATAAATATATATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATAAATATATA TTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATT TATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATATA TAAATATATATTTATAGTTATTTATATATAAATATATAAATCTATATATA TAAATATAGATTTATATATATTTATATAAATAACT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0014 a0001c0002t0019g0014	1	208	0.0048	284	c.-97 others(301): Show c.-97-2019_-97-2018insTATTTATATTTATTTATAAATAAATATA TATAAATATATATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATA TATATTTATATTTATTTATATATAAATATATAAATATATATTTATAGTTA TTTATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATA TATAAATCTATATATATAAATATAGATTTATATATATTTATATAAATAAC TATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GSE1_chr16_85608322_85681200	85653187	G G	GCCCCCCT others(277): Show GCCCCCCTCCGCCCCCCTCCTCCTCCCCCCCCTCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCCCC CTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTC CTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	290	0.0035	284	c.427 others(301): Show c.427-1082_427-1081insGCCCCCCTCCTCCTCCCCCCCCTCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC CCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCC CCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCC TCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCTCCTCCC CCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HERC6_chr4_88373852_88448097	88379742	A A	ATATATAA others(277): Show ATATATAAATATATATAATATATAAATATATAAATATATAACATATAAAT ATATATAATATATAAATATATATATAACATATAAATATATATAATATATA AATATATATATAACATATAAATATATATAATATATAAATATATATATAAC ATATAAATATATATAATATATAAATATATATATAACATATAAATATATAT AATATATAAATATATATATAACATATAAATATATATAATATATAAATATA TATATAACATATAAATATATATAATATATAAATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0084 a0006c0006t0001g0084	1	174	0.0058	284	c.199 others(299): Show c.199+622_199+623insTATATAAATATATATAATATATAAATATAT AAATATATAACATATAAATATATATAATATATAAATATATATATAACATA TAAATATATATAATATATAAATATATATATAACATATAAATATATATAAT ATATAAATATATATATAACATATAAATATATATAATATATAAATATATAT ATAACATATAAATATATATAATATATAAATATATATATAACATATAAATA TATATAATATATAAATATATATATAACATATAAATATATATAATATATAA ATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
HES4_chr1_993964_1005097	996728	A A	AGGACCCC others(277): Show AGGACCCCCCGCTGGAGGGGGCACCCCACATCTGGGGCCACAGGATGCAG GGTGGGGAGGGCAGAAAGGACCCCCCGCTGGAGGGGGCACCTCACATCTG GGGCCACAGGATGCAGGGTGGGGAGGACAGAAAGGACCCCCCGCTGGAGG GGGGACCCCCCGCTGGAGGGGGCACCCCACATCTGGGGCCACAGGATGCA GGGTGGGGAGGGCAGAAAGGACCCCCCGCTGGAGGGGGCACCTCACGTCT GGGGCCACAGGAGGCAGGGTGGGGAGGACAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	284	c.23 others(295): Show c.2330_*2331insCTTTCTGTCCTCCCCACCCTGCCTCCTGTGGCCC CAGACGTGAGGTGCCCCCTCCAGCGGGGGGTCCTTTCTGCCCTCCCCACC CTGCATCCTGTGGCCCCAGATGTGGGGTGCCCCCTCCAGCGGGGGGTCCC CCCTCCAGCGGGGGGTCCTTTCTGTCCTCCCCACCCTGCATCCTGTGGCC CCAGATGTGAGGTGCCCCCTCCAGCGGGGGGTCCTTTCTGCCCTCCCCAC CCTGCATCCTGTGGCCCCAGATGTGGGGTGCCCCCTCCAGCGGGGGGTCC	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding		2235		chr1	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(277): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	314	0.0032	284	c.661 others(301): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322870	T T	TGGAATAT others(277): Show TGGAATATATATGGAATACATATATATGGAATATATATATGGAATACATA TATATGGAATACATATATATGGAATACACATATGGAATACATATATATGG AATACACATATGGAATACATATATATGGAATACATATATGGAATACATAT ATATGGAATACATATATGGAATACATATATATGGAATACATATATGGAAT ACATATATATGGAATACATATATGGAATACATATATGTGGAATACATATA TGGAATATATATATATGTGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	323	0.0031	284	c.-21 others(295): Show c.-2186_-2185insGGAATATATATGGAATACATATATATGGAATATA TATATGGAATACATATATATGGAATACATATATATGGAATACACATATGG AATACATATATATGGAATACACATATGGAATACATATATATGGAATACAT ATATGGAATACATATATATGGAATACATATATGGAATACATATATATGGA ATACATATATGGAATACATATATATGGAATACATATATGGAATACATATA TGTGGAATACATATATGGAATATATATATATGTGGAATATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2099		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(277): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATATATGGAATATATATACGGAATATATATATATGG AATATATATACGGAATATATATATATGGAATATATATACGGAATATATAT ATATGGAATATATATACGGAATATATACATATGGAACATATATATACGGA ATATATACATATGGAACATATATATACGGAATATATACATATGGAACATA TATATGGAATATATACATATGGAACATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	323	0.0031	284	c.-21 others(295): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATATATGGAATATATATACGG AATATATATATATGGAATATATATACGGAATATATATATATGGAATATAT ATACGGAATATATATATATGGAATATATATACGGAATATATACATATGGA ACATATATATACGGAATATATACATATGGAACATATATATACGGAATATA TACATATGGAACATATATATGGAATATATACATATGGAACATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAC others(277): Show TGGAATACATATATATGGAATATATATGGAATACATATATATGGAATATA TATATGGAATACATATATATGGAATACATATATATGGAATACACATATGG AATACATATATATGGAATACATATATGGAATACATATATATGGAATACAT ATATGGAATACATATATATGGAATACATATATGGAATACATATATATGGA ATACATATATGGAATACATATATATGGAATACATATATGGAATACATATA TGTGGAATACATATATGGAATATATATATATGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	323	0.0031	284	c.-21 others(295): Show c.-2147_-2146insGGAATACATATATATGGAATATATATGGAATACA TATATATGGAATATATATATGGAATACATATATATGGAATACATATATAT GGAATACACATATGGAATACATATATATGGAATACATATATGGAATACAT ATATATGGAATACATATATGGAATACATATATATGGAATACATATATGGA ATACATATATATGGAATACATATATGGAATACATATATATGGAATACATA TATGGAATACATATATGTGGAATACATATATGGAATATATATATATGTGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
INO80_chr15_40973880_41121280	41031591	G G	GAGGAAGG others(277): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGG AAGGGAGGAAAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0276 a0001c0001t0007g0276	1	282	0.0036	284	c.290 others(303): Show c.2908-3856_2908-3855insTTCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCTT TCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031591	G G	GAGGAAGG others(277): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGG AAGGGAGGAAAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0282 a0001c0001t0007g0282	1	282	0.0036	284	c.290 others(303): Show c.2908-3856_2908-3855insTTCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCTT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCT CCCTTCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031591	G G	GAGGAAGG others(277): Show GAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAAGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02886.hp1 others(4): Show HG01243.hp2 HG02615.hp2 HG02886.hp1 HG03130.hp2 HG03516.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0002t0009 a0001c0001t0004 a0001c0002t0004 a0001c0002t0009	a0001c0001t0004g0077 a0001c0001t0004g0081 a0001c0001t0004g0085 others(4): Show a0001c0001t0004g0077 a0001c0001t0004g0081 a0001c0001t0004g0085 a0001c0002t0004g0079 a0001c0002t0004g0082 a0001c0002t0009g0013 a0001c0002t0009g0015	7	282	0.0248	284	c.290 others(303): Show c.2908-3856_2908-3855insTTCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCT CCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCT CCCTTCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
IQCJ_chr3_159064319_159268747	159229783	C C	CCCCCTCC others(277): Show CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCC CCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCAC CTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCC CTCCTCCCACTCCTCCTCCCCCTCCTCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	252	0.0040	284	c.10- others(301): Show c.10-16060_10-16059insCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCC CCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCCCCCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCG TCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCCTCCTCCT CCCCCA	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3			chr3	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(277): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCTGGAG GGGAGGCGGGGGCTCGGGGGGGGAGGCGGGGCTCAGGAGGGGAGGCGGGG CTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03579.hp1 HG02717.hp1 HG02976.hp2 HG03579.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0005 a0001c0002 a0002c0001 a0003c0005	a0001c0002t0002 a0002c0001t0005 a0003c0005t0009 a0001c0002t0002 a0002c0001t0005 a0003c0005t0009	a0001c0002t0002g0008 a0002c0001t0005g0007 a0003c0005t0009g0009 a0001c0002t0002g0008 a0002c0001t0005g0007 a0003c0005t0009g0009	3	282	0.0106	284	c.623 others(301): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGG GGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGGGGGGAGGCGGGG CTCAGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAG GCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK2_chr3_10159919_10248745	10224728	C C	CCATCCAT others(277): Show CCATCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCT GTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCC ACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCAC CCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCA ACCCACCCACCCATCCATTTATCCACCTACCCACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp1 HG01515.hp1 others(1): Show HG01106.hp1 HG01261.hp1 HG01515.hp1 HG02486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0119 a0003c0004t0001g0120 a0003c0004t0001g0121 others(1): Show a0003c0004t0001g0119 a0003c0004t0001g0120 a0003c0004t0001g0121 a0003c0004t0001g0247	4	292	0.0137	284	c.121 others(303): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACC CACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCA CCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACC CTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACACATCCA TCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224728	C C	CCATCCAT others(277): Show CCATCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCT GTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCATCCACCCAC CCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCC ACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCA ACCCACCCACCCATCCATTTATCCACCTACCCACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0117 a0002c0006t0001g0117	1	292	0.0034	284	c.121 others(303): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATC CACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCACCCACCCACCTGTCCACCCATGTACCCACC CTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACACATCCA TCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224732	C C	CCATCCAT others(277): Show CCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCC ACCCATCCATCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCC ACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCAC CCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCA ACCCACCCACCCATCCATTTATCCACCTACCCACA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	292	0.0034	284	c.121 others(303): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATC CACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTACC CACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACACA TCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224736	C C	CCATCCAC others(277): Show CCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCC ATCCATCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCACCTGT CCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCC ACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCAC CCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCA ACCCACCCACCCATCCATTTATCCACCTACCCACA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02083.hp1 NA18984.hp2 others(1): Show HG02074.hp1 HG02083.hp1 NA18984.hp2 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0235 a0002c0002t0001g0243 a0005c0007t0001g0128 others(1): Show a0002c0002t0001g0235 a0002c0002t0001g0243 a0005c0007t0001g0128 a0005c0007t0001g0226	4	292	0.0137	284	c.121 others(303): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCA TCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATC CATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCATG TACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCA CACATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAG1_chr20_10632684_10678999	10648780	C C	CTAGCTGG others(277): Show CTAGCTGGAGGAGACGGTATACTCAGGGGCAAAACTAAAGCTATAAGTAG GAGATGGATAATTAAGGGCCTTGTATATTGTGTTAGGGAGTTTTACTCTA TCCCCAGGTGGGTTTTTGGCAGGAGAGTAACATTGTCAGTCTTGTGTTTT ACAAAAAAAAAAGGGAGGGGAGAGAGAAGAGACAGATTCAGCTGGCCTCA TGCTGTCTTCATAGGATCTTGTTGTCTAGAAAGCTGAGTCTCCTCTCTAT CAGAGTACAGGTCTTTTCCTTTTTAAAATTTCTGG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	412	0.0024	284	c.139 others(299): Show c.1396-59_1396-58insCCAGAAATTTTAAAAAGGAAAAGACCTGTA CTCTGATAGAGAGGAGACTCAGCTTTCTAGACAACAAGATCCTATGAAGA CAGCATGAGGCCAGCTGAATCTGTCTCTTCTCTCTCCCCTCCCTTTTTTT TTTGTAAAACACAAGACTGACAATGTTACTCTCCTGCCAAAAACCCACCT GGGGATAGAGTAAAACTCCCTAACACAATATACAAGGCCCTTAATTATCC ATCTCCTACTTATAGCTTTAGTTTTGCCCCTGAGTATACCGTCTCCTCCA GCTA	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	11/25			chr20	TogoVar
KANK1_chr9_499695_751103	514123	T T	TCTCTCTC others(277): Show TCTCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCC TCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCC TCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0002 a0016c0032t0002	a0016c0032t0002g0089 a0016c0032t0002g0089	1	254	0.0039	284	c.-84 others(301): Show c.-84+9376_-84+9377insTCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTT CCTCTCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCTCTC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNH6_chr17_63518358_63551727	63547442	G G	GAAAAGGA others(277): Show GAAAAGGAGGACATAATTTCAACCTAGATGGTCTGGCTTTGAGAGCATGT GCAATTAACCACTGCTGAAAAGGGCTGTTGTCCAAGAACTACCTGGTTAT TGGTTTTCAGTCCTTTGCTCCAGTGTTCTGTAAAAGAATTTCGAATATGT ATATCCCCCTCATACATTTTTAAGTTGACATCTGAAATATTATAAAATAC TTCAATGATACATTTAAATAGATGCAAAGGATATAATCTCAAGTGTCTTA TAAATATTGACACTTTATAAAACAATTCCATCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0125 a0006c0011t0004g0125	1	324	0.0031	284	c.15 others(295): Show c.1540_*1541insAAAAGGAGGACATAATTTCAACCTAGATGGTCTG GCTTTGAGAGCATGTGCAATTAACCACTGCTGAAAAGGGCTGTTGTCCAA GAACTACCTGGTTATTGGTTTTCAGTCCTTTGCTCCAGTGTTCTGTAAAA GAATTTCGAATATGTATATCCCCCTCATACATTTTTAAGTTGACATCTGA AATATTATAAAATACTTCAATGATACATTTAAATAGATGCAAAGGATATA ATCTCAAGTGTCTTATAAATATTGACACTTTATAAAACAATTCCATCCTT	KCNH6	ENSG00000173826.15	transcript	ENST00000314672.10	protein_coding		716		chr17	TogoVar
KCNH6_chr17_63518358_63551727	63547442	G G	GAAAAGGA others(277): Show GAAAAGGAGGACATAATTTCAACCTAGATGGTCTGGCTTTGAGAGCATGT GCAATTAACCACTGCTGAAAAGGGCTGTTGTCCAAGAACTACCTGGTTAT TGGTTTTCAGTCCTTTGCTCCAGTGTTCTGTAAAAGAATTTCGAATATGT ATATCCCCCTCATACATTTTTAAGTTGACATCTGAAATATTATAAAATAC TTCAATGATACATTTAAATAGATGCAAAGGATATAATCTCAAGTGTCTTG TAAATATTGACACTTTATAAAACAATTCCATCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025	a0001c0001 a0001c0002 a0001c0004 others(45): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0015 a0001c0019 a0001c0025 a0001c0027 a0001c0028 a0001c0037 a0001c0038 a0001c0040 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0002c0003 a0002c0022 a0002c0039 a0003c0006 a0004c0012 a0004c0013 a0004c0032 a0005c0010 a0006c0011 a0007c0023 a0007c0030 a0008c0014 a0009c0035 a0010c0034 a0011c0041 a0012c0048 a0013c0047 a0014c0029 a0015c0036 a0016c0021 a0017c0020 a0018c0033 a0019c0017 a0020c0046 a0021c0018 a0022c0016 a0023c0024 a0024c0031 a0025c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0007t0004 a0001c0008t0002 a0001c0009t0002 a0001c0015t0001 a0001c0019t0003 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0001c0037t0002 a0001c0038t0001 a0001c0040t0002 a0001c0042t0002 a0001c0043t0002 a0001c0044t0002 a0001c0045t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 a0002c0022t0001 a0002c0039t0002 a0003c0006t0001 a0004c0012t0001 a0004c0013t0001 a0004c0032t0004 a0005c0010t0002 a0006c0011t0001 a0006c0011t0004 a0007c0023t0001 a0007c0030t0001 a0008c0014t0001 a0009c0035t0002 a0010c0034t0002 a0011c0041t0005 a0012c0048t0002 a0013c0047t0002 a0014c0029t0001 a0015c0036t0002 a0016c0021t0001 a0017c0020t0001 a0018c0033t0002 a0019c0017t0005 a0020c0046t0002 a0021c0018t0001 a0022c0016t0006 a0023c0024t0001 a0024c0031t0001 a0025c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(218): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0094 a0001c0001t0002g0107 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0003g0031 a0001c0001t0003g0081 a0001c0001t0004g0033 a0001c0001t0005g0020 a0001c0001t0005g0130 a0001c0001t0005g0180 a0001c0001t0006g0001 a0001c0001t0006g0039 a0001c0001t0008g0154 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0030 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0050 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0087 a0001c0002t0001g0105 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0120 a0001c0002t0001g0185 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0003g0002 a0001c0002t0003g0006 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0064 a0001c0002t0003g0068 a0001c0002t0003g0138 a0001c0002t0004g0002 a0001c0002t0004g0186 a0001c0002t0009g0071 a0001c0002t0010g0006 a0001c0002t0011g0109 a0001c0004t0001g0016 a0001c0004t0001g0019 a0001c0004t0001g0034 a0001c0004t0001g0128 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0005t0001g0055 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0001g0122 a0001c0005t0001g0148 a0001c0005t0001g0190 a0001c0005t0002g0189 a0001c0007t0002g0059 a0001c0007t0002g0085 a0001c0007t0002g0086 a0001c0007t0002g0123 a0001c0007t0004g0083 a0001c0007t0004g0084 a0001c0008t0002g0017 a0001c0008t0002g0178 a0001c0009t0002g0001 a0001c0009t0002g0010 a0001c0009t0002g0160 a0001c0015t0001g0187 a0001c0015t0001g0188 a0001c0019t0003g0006 a0001c0025t0001g0002 a0001c0027t0001g0104 a0001c0028t0001g0019 a0001c0037t0002g0001 a0001c0038t0001g0134 a0001c0040t0002g0164 a0001c0042t0002g0184 a0001c0043t0002g0004 a0001c0044t0002g0005 a0001c0045t0001g0007 a0002c0003t0001g0014 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0046 a0002c0003t0001g0048 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0080 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0096 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0121 a0002c0003t0001g0168 a0002c0003t0001g0193 a0002c0003t0003g0045 a0002c0003t0003g0095 a0002c0003t0007g0191 a0002c0003t0007g0192 a0002c0022t0001g0051 a0002c0039t0002g0159 a0003c0006t0001g0011 a0003c0006t0001g0194 a0003c0006t0001g0195 a0003c0006t0001g0196 a0004c0012t0001g0070 a0004c0012t0001g0103 a0004c0013t0001g0028 a0004c0032t0004g0079 a0005c0010t0002g0037 a0005c0010t0002g0166 a0006c0011t0001g0197 a0006c0011t0004g0124 a0007c0023t0001g0013 a0007c0030t0001g0047 a0008c0014t0001g0018 a0009c0035t0002g0021 a0010c0034t0002g0183 a0011c0041t0005g0035 a0012c0048t0002g0149 a0013c0047t0002g0004 a0014c0029t0001g0082 a0015c0036t0002g0179 a0016c0021t0001g0110 a0017c0020t0001g0072 a0018c0033t0002g0005 a0019c0017t0005g0169 a0020c0046t0002g0139 a0021c0018t0001g0172 a0022c0016t0006g0106 a0023c0024t0001g0063 a0024c0031t0001g0025 a0025c0026t0001g0119	322	324	0.9938	284	c.15 others(295): Show c.1540_*1541insAAAAGGAGGACATAATTTCAACCTAGATGGTCTG GCTTTGAGAGCATGTGCAATTAACCACTGCTGAAAAGGGCTGTTGTCCAA GAACTACCTGGTTATTGGTTTTCAGTCCTTTGCTCCAGTGTTCTGTAAAA GAATTTCGAATATGTATATCCCCCTCATACATTTTTAAGTTGACATCTGA AATATTATAAAATACTTCAATGATACATTTAAATAGATGCAAAGGATATA ATCTCAAGTGTCTTGTAAATATTGACACTTTATAAAACAATTCCATCCTT	KCNH6	ENSG00000173826.15	transcript	ENST00000314672.10	protein_coding		716		chr17	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(277): Show GATATATATATATCCAAGAGGATATATATATATACACAAGAGGATATATA TATATACACACAAGAGGATATATATATGTACACACAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	232	0.0043	284	c.-67 others(303): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATACACAA GAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758041	T T	TATATATC others(277): Show TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	232	0.0043	284	c.-67 others(303): Show c.-67-49302_-67-49301insATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATAT CCAAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNT2_chr1_196220779_196613440	196437093	T T	TTATATAC others(277): Show TTATATACATAAATATATTTATATATAAATATATATTTTTATATATATTT ATGTATATATTTATATATAAATATATATTTATATATTTATATATATTTAT ATATATACATAAATATATATTTTTATATATTTATATATATACATAAATAT ATATTTATATATAAATATATATTTATATATATTTATATACATAAATATAT ATTTATATATATTTATATACATAAATATATATTTATATATATTTATATAC ATAAATATATATTTATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG00323.hp1 HG01081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0132 a0001c0004t0004g0133 a0001c0004t0004g0132 a0001c0004t0004g0133	2	136	0.0147	284	c.639 others(301): Show c.639-7337_639-7336insTAAATATATATAAATATATATAAATATA TATTTATGTATATAAATATATATAAATATATATTTATGTATATAAATATA TATAAATATATATTTATGTATATAAATATATATAAATATATATTTATATA TAAATATATATTTATGTATATATATAAATATATAAAAATATATATTTATG TATATATATAAATATATATAAATATATAAATATATATTTATATATAAATA TATACATAAATATATATAAAAATATATATTTATATATAAATATATTTATG TATATA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KIF26B_chr1_245149985_245714432	245600120	C C	CCTCAGCT others(277): Show CCTCAGCTTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAG TATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACC TCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTAT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGC TGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0080 a0008c0024t0080	a0008c0024t0080g0010 a0008c0024t0080g0010	1	160	0.0063	284	c.135 others(303): Show c.1351-2454_1351-2453insAGCTTCCCGGGTTCAACCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCT GGCTAATTTTGTATTTTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGG CTGGTCTCGACCTCCCGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAA GTGCTAGGATTATAGGCTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACT GCAAGCTC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245600120	C C	CCTCAGCT others(277): Show CCTCAGCTTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAG TATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACC TCAGATGATCTCCCGCCTTGGCCTCCCAAAGTGCTAGGATTATAGGCTAT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGC TGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0056 a0001c0013t0001g0056	1	160	0.0063	284	c.135 others(303): Show c.1351-2454_1351-2453insAGCTTCCCGGGTTCAACCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCT GGCTAATTTTGTATTTTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGG CTGGTCTCGACCTCCCGACCTCAGATGATCTCCCGCCTTGGCCTCCCAAA GTGCTAGGATTATAGGCTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACT GCAAGCTC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGA others(277): Show TTCCCGGATTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGCG CAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19043.hp1 HG03540.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0038 a0002c0003t0022 a0001c0001t0038 a0002c0003t0022	a0001c0001t0038g0107 a0002c0003t0022g0155 a0001c0001t0038g0107 a0002c0003t0022g0155	2	160	0.0125	284	c.135 others(303): Show c.1351-2444_1351-2443insATTCAACCGATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTT GTATTTTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGA CCTCCCGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGAT TATAGGCTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTG TCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCG CCTCCCGG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(277): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGCG CAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 NA18906.hp2 others(1): Show HG01243.hp1 HG01884.hp2 NA18906.hp2 NA19030.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0016	a0001c0001 a0002c0003 a0012c0036 others(1): Show a0001c0001 a0002c0003 a0012c0036 a0016c0039	a0001c0001t0037 a0002c0003t0083 a0012c0036t0011 others(1): Show a0001c0001t0037 a0002c0003t0083 a0012c0036t0011 a0016c0039t0001	a0001c0001t0037g0119 a0002c0003t0083g0085 a0012c0036t0011g0135 others(1): Show a0001c0001t0037g0119 a0002c0003t0083g0085 a0012c0036t0011g0135 a0016c0039t0001g0124	4	160	0.0250	284	c.135 others(303): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCC CAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCC CGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(277): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATAT ACGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATAT GTGTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01169.hp2 HG02155.hp1 others(2): Show HG00735.hp1 HG01169.hp2 HG02155.hp1 NA18947.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0066 a0001c0001t0080 a0001c0001t0028 a0001c0001t0066 a0001c0001t0080	a0001c0001t0028g0003 a0001c0001t0028g0273 a0001c0001t0066g0129 others(1): Show a0001c0001t0028g0003 a0001c0001t0028g0273 a0001c0001t0066g0129 a0001c0001t0080g0154	5	400	0.0125	284	c.37 others(293): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA TATGTGTATATATACGTATGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(277): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATAT GTGTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00597.hp2 others(70): Show HG00280.hp2 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01081.hp2 HG01192.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02080.hp1 HG02132.hp1 HG02273.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04228.hp2 NA18939.hp2 NA18943.hp1 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18986.hp2 NA18987.hp2 NA18992.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19078.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0004c0006 a0006c0007	a0001c0001t0001 a0001c0001t0019 a0001c0001t0027 others(10): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0027 a0001c0001t0041 a0001c0001t0044 a0001c0001t0084 a0001c0001t0094 a0001c0001t0097 a0001c0001t0105 a0001c0002t0001 a0002c0004t0001 a0004c0006t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0099 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0019g0003 a0001c0001t0019g0026 a0001c0001t0019g0047 a0001c0001t0027g0097 a0001c0001t0027g0119 a0001c0001t0027g0125 a0001c0001t0041g0003 a0001c0001t0041g0004 a0001c0001t0044g0004 a0001c0001t0084g0031 a0001c0001t0094g0256 a0001c0001t0097g0010 a0001c0001t0105g0026 a0001c0002t0001g0023 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0213 a0002c0004t0001g0002 a0002c0004t0001g0258 a0002c0004t0001g0264 a0004c0006t0001g0249 a0006c0007t0001g0233	73	400	0.1825	284	c.37 others(293): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(277): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATAT GTGTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG02027.hp1 HG02074.hp1 others(5): Show HG00408.hp1 HG02027.hp1 HG02074.hp1 HG03942.hp2 NA18957.hp1 NA19001.hp2 NA19010.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0091 a0001c0001t0012 a0001c0001t0091	a0001c0001t0012g0002 a0001c0001t0012g0030 a0001c0001t0012g0124 others(5): Show a0001c0001t0012g0002 a0001c0001t0012g0030 a0001c0001t0012g0124 a0001c0001t0012g0161 a0001c0001t0012g0238 a0001c0001t0012g0278 a0001c0001t0012g0313 a0001c0001t0091g0051	8	400	0.0200	284	c.37 others(293): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
LHPP_chr10_124456823_124619141	124471567	T T	TTTATATA others(277): Show TTTATATATATATTTATATATATATTTATATATATATTTATATATATTTA TTTATATATATATTTATATATATATTTATATATATATTTATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATTTATATATGTA TTTATATATATTTATATATGTATTTATATATATTTATATATATTTATATG TATTTATATATATTTATATATATTTATATATATAACTATAAATATATTTA TATATAAATATAAATATATTTATATATAAATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp2 HG02015.hp1 others(5): Show HG00738.hp1 HG01346.hp2 HG02015.hp1 HG02523.hp1 NA18747.hp1 NA18961.hp2 NA19004.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0179 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0003g0076 a0001c0001t0013g0235	8	260	0.0308	284	c.125 others(301): Show c.125+9580_125+9581insTTATATATATATTTATATATATATTTAT ATATATATTTATATATATTTATTTATATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATTTATATATGTATTTATATATATTTATATATGTATTTATAT ATATTTATATATATTTATATGTATTTATATATATTTATATATATTTATAT ATATAACTATAAATATATTTATATATAAATATAAATATATTTATATATAA ATATAA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LMF1_chr16_848634_975984	857613	G G	GCAGTGGT others(277): Show GCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0052 a0001c0008t0001g0052	1	294	0.0034	284	c.153 others(303): Show c.1530-2908_1530-2907insGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGT GACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857623	A A	ACGGGACG others(277): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0110 a0001c0005t0012g0110	1	294	0.0034	284	c.153 others(303): Show c.1530-2918_1530-2917insAGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	955126	A A	AAACCAGA others(277): Show AAACCAGACACGTTACATAAAATGCGTGCCTGCTGCAGACGTGGTGTGTG TATACACACACACACATCTAAGTAAACCAGACACGTTACATAAAATGCGT GCCCGCAGCAGACGTAGTGTGTGCATCCACACACACACATCTAAGTAAAC TAGACACGTTACATAAAATGCGTGCCCACAGCAGACGCGGTGTGTGCGTA CACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTGCCC GCAGCAGACGCAGTGTGTGCATACACATCTAAGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp2 others(19): Show HG00099.hp1 HG00280.hp2 HG00597.hp2 HG01361.hp1 HG01517.hp1 HG02129.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02818.hp2 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG04228.hp2 NA18944.hp1 NA18964.hp2 NA18970.hp2 NA18995.hp1 NA19012.hp1 NA19068.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0016	a0001c0001 a0001c0005 a0001c0021 others(6): Show a0001c0001 a0001c0005 a0001c0021 a0001c0022 a0002c0056 a0005c0024 a0006c0020 a0006c0051 a0016c0066	a0001c0001t0001 a0001c0001t0019 a0001c0005t0001 others(8): Show a0001c0001t0001 a0001c0001t0019 a0001c0005t0001 a0001c0021t0001 a0001c0022t0001 a0002c0056t0001 a0005c0024t0007 a0006c0020t0001 a0006c0020t0006 a0006c0051t0006 a0016c0066t0008	a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 others(19): Show a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0019g0258 a0001c0005t0001g0248 a0001c0021t0001g0268 a0001c0022t0001g0246 a0002c0056t0001g0018 a0005c0024t0007g0259 a0005c0024t0007g0294 a0006c0020t0001g0020 a0006c0020t0006g0019 a0006c0051t0006g0108 a0016c0066t0008g0212	22	294	0.0748	284	c.194 others(299): Show c.194-461_194-460insCACTTAGATGTGTATGCACACACTGCGTCT GCTGCGGGCACGCATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGT GTGTGTACGCACACACCGCGTCTGCTGTGGGCACGCATTTTATGTAACGT GTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACACACTACGTCTGCTG CGGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGTGTGT GTATACACACACCACGTCTGCAGCAGGCACGCATTTTATGTAACGTGTCT GGTT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955126	A A	AAACCAGA others(277): Show AAACCAGACACGTTACATAAAATGCGTGCCTGCTGCAGACGTGGTGTGTG TATACACACACACACATCTAAGTAAACCAGACACGTTACATAAAATGCGT GCCCGCAGCAGACGTAGTGTGTGCATCCACACACACACATCTAAGTAAAC TAGACACGTTACATAAAATGCGTGCCCGCAGCAGACGCGGTGTGTGCGTA CACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTGCCC GCAGCAGACGCAGTGTGTGCATACACATCTAAGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0244 a0001c0022t0001g0244	1	294	0.0034	284	c.194 others(299): Show c.194-461_194-460insCACTTAGATGTGTATGCACACACTGCGTCT GCTGCGGGCACGCATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGT GTGTGTACGCACACACCGCGTCTGCTGCGGGCACGCATTTTATGTAACGT GTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACACACTACGTCTGCTG CGGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGTGTGT GTATACACACACCACGTCTGCAGCAGGCACGCATTTTATGTAACGTGTCT GGTT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955126	A A	AAACCAGA others(277): Show AAACCAGACACGTTACATAAAATGCGTGCCTGCTGCAGACGTGGTGTGTG TATACACACACACACATCTAAGTAAACCAGACACGTTACATAAAATGCGT GCCCGCAGCAGACGTAGTGTGTGCATCCACACACACACATCTAAGTAAAC TAGACACGTTATATAAAATGCGTGCCCACAGCAGACGCGGTGTGTGCGTA CACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTGCCC GCAGCAGACGCAGTGTGTGCATACACATCTAAGTG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0250 a0001c0003t0001g0250	1	294	0.0034	284	c.194 others(299): Show c.194-461_194-460insCACTTAGATGTGTATGCACACACTGCGTCT GCTGCGGGCACGCATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGT GTGTGTACGCACACACCGCGTCTGCTGTGGGCACGCATTTTATATAACGT GTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACACACTACGTCTGCTG CGGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGTGTGT GTATACACACACCACGTCTGCAGCAGGCACGCATTTTATGTAACGTGTCT GGTT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955126	A A	AAACCAGA others(277): Show AAACCAGACACGTTACATAAAATGCGTGCCTGCTGCAGACGTGGTGTGTG TATACACACACACACATCTAAGTAAACCAGACACGTTACATAAAATGCGT GCCTGCAGCAGACGTAGTGTGTGCATCCACACACACACATCTAAGTAAAC TAGACACGTTACATAAAATGCGTGCCCACAGCAGACGCGGTGTGTGCGTA CACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTGCCC GCAGCAGACGCAGTGTGTGCATACACATCTAAGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02572.hp2 others(4): Show HG01243.hp1 HG02109.hp2 HG02572.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp1 NA19043.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0007 a0009	a0001c0001 a0001c0003 a0001c0064 others(4): Show a0001c0001 a0001c0003 a0001c0064 a0004c0026 a0006c0052 a0007c0028 a0009c0068	a0001c0001t0001 a0001c0003t0001 a0001c0064t0002 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0064t0002 a0004c0026t0001 a0006c0052t0001 a0007c0028t0004 a0009c0068t0001	a0001c0001t0001g0024 a0001c0003t0001g0124 a0001c0064t0002g0128 others(4): Show a0001c0001t0001g0024 a0001c0003t0001g0124 a0001c0064t0002g0128 a0004c0026t0001g0127 a0006c0052t0001g0243 a0007c0028t0004g0017 a0009c0068t0001g0242	7	294	0.0238	284	c.194 others(299): Show c.194-461_194-460insCACTTAGATGTGTATGCACACACTGCGTCT GCTGCGGGCACGCATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGT GTGTGTACGCACACACCGCGTCTGCTGTGGGCACGCATTTTATGTAACGT GTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACACACTACGTCTGCTG CAGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGTGTGT GTATACACACACCACGTCTGCAGCAGGCACGCATTTTATGTAACGTGTCT GGTT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955150	C C	CGTGCCTG others(277): Show CGTGCCTGCTGCAGACGTGGTGTGTGTATACACACACACACATCTAAGTA AACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTGTGC ATCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTG CCCACAGCAGACGCGGTGTGTGCGTACACACACACACATCTAAGTAAACT AGACACGTTACATAAAATGCGTGCCCGCAGCAGACGCAGTGTGTGCATAC ACATCTAAATGAACCAGACACGTTACATAAAATGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0025 a0001c0004t0016g0025	1	294	0.0034	284	c.194 others(299): Show c.194-485_194-484insCCATTTTATGTAACGTGTCTGGTTCATTTA GATGTGTATGCACACACTGCGTCTGCTGCGGGCACGCATTTTATGTAACG TGTCTAGTTTACTTAGATGTGTGTGTGTGTACGCACACACCGCGTCTGCT GTGGGCACGCATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGTG TGGATGCACACACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTC TGGTTTACTTAGATGTGTGTGTGTGTATACACACACCACGTCTGCAGCAG GCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955150	C C	CGTGCCTG others(277): Show CGTGCCTGCTGCAGACGTGGTGTGTGTATACACACACACACATCTAAGTA AACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTGTGC ATCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTG CCCACAGCAGACGCGGTGTGTGCGTACACACACACACATCTAAGTAAACT AGACACGTTACATAAAATGCGTGCCCGCAGCAGACGCAGTGTGTGCATAC ACATCTAAGTGAACCAGACACGTTACATAAAATGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG01099.hp2 others(69): Show HG00544.hp2 HG00558.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18966.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0007 a0008 a0009 a0021	a0001c0002 a0001c0004 a0001c0005 others(15): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0042 a0001c0046 a0001c0072 a0002c0016 a0002c0017 a0004c0018 a0005c0044 a0007c0048 a0008c0047 a0009c0045 a0021c0043	a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 others(20): Show a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0008t0002 a0001c0012t0001 a0001c0012t0014 a0001c0013t0001 a0001c0013t0018 a0001c0042t0001 a0001c0046t0001 a0001c0072t0001 a0002c0016t0001 a0002c0017t0001 a0004c0018t0001 a0005c0044t0003 a0007c0048t0004 a0008c0047t0003 a0009c0045t0005 a0021c0043t0001	a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 others(69): Show a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0006g0050 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0067 a0001c0004t0001g0075 a0001c0004t0001g0077 a0001c0004t0001g0087 a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0004t0004g0030 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0005t0001g0080 a0001c0006t0001g0055 a0001c0006t0001g0082 a0001c0006t0001g0092 a0001c0008t0001g0023 a0001c0008t0001g0052 a0001c0008t0001g0069 a0001c0008t0001g0074 a0001c0008t0001g0079 a0001c0008t0001g0090 a0001c0008t0002g0071 a0001c0012t0001g0043 a0001c0012t0001g0045 a0001c0012t0001g0046 a0001c0012t0014g0022 a0001c0013t0001g0085 a0001c0013t0001g0094 a0001c0013t0018g0035 a0001c0042t0001g0088 a0001c0046t0001g0034 a0001c0072t0001g0056 a0002c0016t0001g0068 a0002c0016t0001g0070 a0002c0016t0001g0076 a0002c0017t0001g0038 a0002c0017t0001g0081 a0002c0017t0001g0096 a0004c0018t0001g0060 a0004c0018t0001g0083 a0005c0044t0003g0119 a0007c0048t0004g0036 a0008c0047t0003g0072 a0009c0045t0005g0078 a0021c0043t0001g0084	72	294	0.2449	284	c.194 others(299): Show c.194-485_194-484insCCATTTTATGTAACGTGTCTGGTTCACTTA GATGTGTATGCACACACTGCGTCTGCTGCGGGCACGCATTTTATGTAACG TGTCTAGTTTACTTAGATGTGTGTGTGTGTACGCACACACCGCGTCTGCT GTGGGCACGCATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGTG TGGATGCACACACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTC TGGTTTACTTAGATGTGTGTGTGTGTATACACACACCACGTCTGCAGCAG GCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955150	C C	CGTGCCTG others(277): Show CGTGCCTGCTGCAGACGTGGTGTGTGTATACACACACACACATCTAAGTA AACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTGGTGTGTGC ATCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTG CCCACAGCAGACGCGGTGTGTGCGTACACACACACACATCTAAGTAAACT AGACACGTTACATAAAATGCGTGCCCGCAGCAGACGCAGTGTGTGCATAC ACATCTAAGTGAACCAGACACGTTACATAAAATGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0022 a0022	a0022c0041 a0022c0041	a0022c0041t0004 a0022c0041t0004	a0022c0041t0004g0270 a0022c0041t0004g0270	1	294	0.0034	284	c.194 others(299): Show c.194-485_194-484insCCATTTTATGTAACGTGTCTGGTTCACTTA GATGTGTATGCACACACTGCGTCTGCTGCGGGCACGCATTTTATGTAACG TGTCTAGTTTACTTAGATGTGTGTGTGTGTACGCACACACCGCGTCTGCT GTGGGCACGCATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGTG TGGATGCACACACCACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTC TGGTTTACTTAGATGTGTGTGTGTGTATACACACACCACGTCTGCAGCAG GCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955151	G G	GTGCCTGC others(277): Show GTGCCTGCTGCAGACGTGGTGTGTGTATACACACACACACATCTAAGTAA ACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTGTGCA TCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTGC CCACAGCAGACGCGGTGTGTGCGTACACACACACACATCTAAGTAAACTA GACACGTTACATAAAATGCGTGCCCGCAGCAGACGCAGTGTGTGCATACA CATCTAAGTGAACCAGACACGTTACATAAAATGCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01884.hp1 others(6): Show HG01069.hp1 HG01071.hp2 HG01884.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp1 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0002t0011 a0001c0006t0001 others(1): Show a0001c0002t0002 a0001c0002t0011 a0001c0006t0001 a0001c0006t0002	a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0011g0292 others(6): Show a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0011g0292 a0001c0006t0001g0284 a0001c0006t0001g0285 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0002g0282 a0001c0006t0002g0283	9	294	0.0306	284	c.194 others(299): Show c.194-486_194-485insTGCATTTTATGTAACGTGTCTGGTTCACTT AGATGTGTATGCACACACTGCGTCTGCTGCGGGCACGCATTTTATGTAAC GTGTCTAGTTTACTTAGATGTGTGTGTGTGTACGCACACACCGCGTCTGC TGTGGGCACGCATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGT GTGGATGCACACACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGT CTGGTTTACTTAGATGTGTGTGTGTGTATACACACACCACGTCTGCAGCA GGCA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955151	G G	GTGCCTGC others(277): Show GTGCCTGCTGCAGACGTGGTGTGTGTATACACACACACACATCTAAGTAA ACCAGACACGTTACATAAAATGCGTTCCTGCAGCAGACGTAGTGTGTGCA TCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTGC CCACAGCAGACGCGGTGTGTGCGTACACACACACACATCTAAGTAAACTA GACACGTTACATAAAATGCGTGCCCGCAGCAGACGCAGTGTGTGCATACA CATCTAAGTGAACCAGACACGTTACATAAAATGCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0012 a0012	a0012c0049 a0012c0049	a0012c0049t0010 a0012c0049t0010	a0012c0049t0010g0281 a0012c0049t0010g0281	1	294	0.0034	284	c.194 others(299): Show c.194-486_194-485insTGCATTTTATGTAACGTGTCTGGTTCACTT AGATGTGTATGCACACACTGCGTCTGCTGCGGGCACGCATTTTATGTAAC GTGTCTAGTTTACTTAGATGTGTGTGTGTGTACGCACACACCGCGTCTGC TGTGGGCACGCATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGT GTGGATGCACACACTACGTCTGCTGCAGGAACGCATTTTATGTAACGTGT CTGGTTTACTTAGATGTGTGTGTGTGTATACACACACCACGTCTGCAGCA GGCA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCGGT others(277): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCA GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0011 a0011	a0011c0037 a0011c0037	a0011c0037t0001 a0011c0037t0001	a0011c0037t0001g0119 a0011c0037t0001g0119	1	414	0.0024	284	c.171 others(301): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACTGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(277): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCATC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCATCACCACCACCATCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATC ACCACCACCATCACCATCACCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	362	0.0028	284	c.391 others(299): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCATCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCATCACCACCACCATCACCACCACCACCACCAT CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACC ACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBTPS1_chr16_84048763_84121942	84051332	C C	CCCGCATG others(277): Show CCCGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAG CTACAAGGCCCGCATGTGCTTAAGGAGAGCTGCAAGGCCGCATGTGGGTA AGGAGAGCTACAAGGCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCAT GTGCTTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTACAAGG CCGCATGTAGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCT GCAAGGCCCACATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	424	0.0024	284	c.31 others(295): Show c.3116_*3117insCCTTGCAGCTCTCCTTACCCACATGTGGGCCTTG CAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCTACATGCG GCCTTGTAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTAAGCA CATGCGGGCCTTGTAGCTCTCCTTACCCACATGCGGCCTTGTAGCTCTCC TTACCCACATGCGGCCTTGCAGCTCTCCTTAAGCACATGCGGGCCTTGTA GCTCTCCTTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGCGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2430		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051532	C C	CCGCATGT others(277): Show CCGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGT GGCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTA AGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCCATG TGGGTAAGGAGAGCTGCAAGGCCGTATGTGGGTAAGGAGAGCTGCAAGGC CGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGCG GCAAGGCCCGCATGTGCTTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0275 a0001c0001t0009g0275	1	424	0.0024	284	c.29 others(295): Show c.2916_*2917insCCTTGCAGCTCTCCTTAAGCACATGCGGGCCTTG CCGCTCTCCTTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGC GGCCTTGCAGCTCTCCTTACCCACATACGGCCTTGCAGCTCTCCTTACCC ACATGGGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCC TTACGCACATGCGGGCCTTGTAGCTCTCCTTACCCACATGCGGGCCTTGC CACTCTCCTTACCCACATGTGGGCCTTGCAGCTCTCCTTACCCACATGCG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2230		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051532	C C	CCGCATGT others(277): Show CCGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGT GGCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTA AGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCCATG TGGGTAAGGAGAGCTGCAAGGCCGTATGTGGGTAAGGAGAGCTGCAAGGC CGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCG GCAAGGCCCGCATGTGCTTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(73): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02738.hp1 HG02970.hp2 HG03225.hp1 HG03490.hp1 HG03710.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp2 NA18940.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18985.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19063.hp2 NA19065.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0011c0019	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0002t0009 a0001c0002t0016 a0001c0012t0044 a0011c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0009g0013 a0001c0001t0009g0280 a0001c0001t0016g0390 a0001c0001t0025g0387 a0001c0001t0026g0201 a0001c0001t0028g0090 a0001c0002t0009g0306 a0001c0002t0016g0384 a0001c0002t0016g0385 a0001c0012t0044g0396 a0011c0019t0001g0177	76	424	0.1793	284	c.29 others(295): Show c.2916_*2917insCCTTGCAGCTCTCCTTAAGCACATGCGGGCCTTG CCGCTCTCCTTACCCACATGCGGGCCTTGCAGCTCTCCTTACCCACATGC GGCCTTGCAGCTCTCCTTACCCACATACGGCCTTGCAGCTCTCCTTACCC ACATGGGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCC TTACGCACATGCGGGCCTTGTAGCTCTCCTTACCCACATGCGGGCCTTGC CACTCTCCTTACCCACATGTGGGCCTTGCAGCTCTCCTTACCCACATGCG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2230		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051816	C C	CCGCATGT others(277): Show CCGCATGTGCGTAAGGACAGCTGCAAGACCCCCATGTGGGTAAGGAGAGC GGCAAGGCCCCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAA GGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATG TGCGTAAGGACAGCTGCAAGACCCCCATGTGGGTAAGGAGAGCGGCAAGG CCCCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGC TGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03130.hp1 NA18973.hp1 others(1): Show HG03098.hp1 HG03130.hp1 NA18973.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0032 a0001c0002t0001 a0001c0001t0010 a0001c0001t0032 a0001c0002t0001	a0001c0001t0010g0251 a0001c0001t0032g0233 a0001c0002t0001g0204 others(1): Show a0001c0001t0010g0251 a0001c0001t0032g0233 a0001c0002t0001g0204 a0001c0002t0001g0205	4	424	0.0094	284	c.26 others(295): Show c.2632_*2633insCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGC AGCTCTCCTTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGGG GCCTTGCCGCTCTCCTTACCCACATGGGGGTCTTGCAGCTGTCCTTACGC ACATGCGGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTC CTTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGGGGCCTTGC CGCTCTCCTTACCCACATGGGGGTCTTGCAGCTGTCCTTACGCACATGCG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1946		chr16	TogoVar
MCC_chr5_113017106_113493453	113333794	T T	TATATATG others(277): Show TATATATGTATATATGTACATATATGTATATATGTACATATATACATATA TGTACATATATGTATATATGTACATATATACATATATGTATATATGTACA TATGTACATATACATATATATGTACATATGTACATATATGTACATATATG TACATATACGTATATATGTACATATATACATATATGTACATATATGTACA TATGTACATATACATATATATGTACATATGTACATATACGTATATATGTA CATATGTACATATACGTATATATGTACATATGTAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0005 a0001c0050t0005	a0001c0050t0005g0106 a0001c0050t0005g0106	1	160	0.0063	284	c.627 others(301): Show c.627+6724_627+6725insGTACATATGTACATATATACGTATATGT ACATATGTACATATATACGTATATGTACATATGTACATATATATGTATAT GTACATATGTACATATATGTACATATATGTATATATGTACATATATACGT ATATGTACATATATGTACATATATGTACATATGTACATATATATGTATAT GTACATATGTACATATATACATATATGTATATATGTACATATATACATAT ATGTACATATATGTATATATGTACATATATACATATATGTACATATATAC ATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar

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