Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
IGFN1_chr1_201185824_201233952	201210864	GGGTCAAT others(101): Show GGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTGAGGG AATAGGTTCAGGGAGTAAGGCAGGTTTCAGGGATGGTTTAGGGGGTTCTG AAGAAATGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp2 HG03710.hp1 HG01884.hp2 HG03710.hp1	a0051 a0073 a0051 a0073	a0051c0101 a0073c0066 a0051c0101 a0073c0066	a0051c0101t0007 a0073c0066t0001 a0051c0101t0007 a0073c0066t0001	a0051c0101t0007g0259 a0073c0066t0001g0207 a0051c0101t0007g0259 a0073c0066t0001g0207	2	426	0.0047	-108	c.601 others(9): Show c.6019_6126del	p.Gly others(15): Show p.Gly2007_Glu2042del	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6150/11811	6019/11127	2007/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
IKZF3_chr17_39752718_39869312	39855957	AATGTATA others(101): Show AATGTATATTGTATATGTACAATATAACATGTATATTGTATATGTACAAT ATAACATGTATATTGTATATGTACAATATAACATGTATATTGTATATGTA CAATATAAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp1 HG01515.hp2 others(17): Show HG01074.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 NA18906.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 others(10): Show a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0056 a0002c0003t0012 a0002c0003t0018 a0002c0003t0038	a0001c0001t0014g0116 a0001c0001t0014g0118 a0001c0001t0014g0120 others(17): Show a0001c0001t0014g0116 a0001c0001t0014g0118 a0001c0001t0014g0120 a0001c0001t0019g0115 a0001c0001t0019g0124 a0001c0001t0020g0112 a0001c0001t0020g0113 a0001c0001t0021g0121 a0001c0001t0035g0239 a0001c0001t0041g0122 a0001c0001t0042g0119 a0001c0001t0043g0123 a0001c0001t0044g0240 a0001c0001t0056g0117 a0002c0003t0012g0128 a0002c0003t0012g0129 a0002c0003t0012g0130 a0002c0003t0018g0125 a0002c0003t0018g0126 a0002c0003t0038g0127	20	79	0.2532	-108	c.7+8 others(13): Show c.7+8055_7+8162del		IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7						chr17	TogoVar
IL1R2_chr2_101986960_102033544	102003459	TGTGTCTG others(101): Show TGTGTCTGTGTCGGTGTCTAGGCCTATGTCTATGTCTGTGTCTTTGTCCC CTGTCTGTGTCCCATGTCTGTGTCTGTGTCTGGCTGTGGCTGTGGCTGTG TCTGTGTCG	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	424	0.0024	-108	c.-61 others(17): Show c.-61-4880_-61-4773del		IL1R2	ENSG00000115590.14	transcript	ENST00000332549.8	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
IL3RA_chrX_1331785_1387689	1366085	GGTGCGCG others(101): Show GGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGA GCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGG GTGCGCGGC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	110	0.0091	-108	c.874 others(15): Show c.874+837_874+944del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367170	CGGGTGCG others(101): Show CGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCGGGGT GAGCCGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGCGCGGGGTGAGCC GGGTGCGCG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	90	0.0111	-108	c.874 others(17): Show c.874+1924_874+2031del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367242	GGGGTGCG others(101): Show GGGGTGCGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGT GCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCG GGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0080 a0001c0001t0006g0080	1	110	0.0091	-108	c.874 others(17): Show c.874+1996_874+2103del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367491	AGCCGGGT others(101): Show AGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGCGCGG CGTGAGCCGGGTGCGCGGGGTGCGCCGGGTGCGCGGGGTGAGCGGGGTGA GCCGGGTGC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	109	0.0092	-108	c.874 others(17): Show c.874+2242_874+2349del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132771600	GCCCATGA others(101): Show GCCCATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCCGGCA GCCGCCCCGCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCAC GGCAGCCAC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	202	0.0050	-108	c.977 others(17): Show c.977+5772_977+5879del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132771659	CGAAGAGT others(101): Show CGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCAC CCCATGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAG CCACCCCAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	161	0.0062	-108	c.977 others(17): Show c.977+5826_978-5892del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132771874	AGAGTGGG others(101): Show AGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCG ATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCA CCCCACGAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG02148.hp2 others(13): Show HG00741.hp1 HG01433.hp1 HG02148.hp2 HG02602.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03654.hp1 HG04184.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0010 a0001c0001 a0001c0003 a0002c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0002c0010t0002	a0001c0001t0001g0054 a0001c0001t0004g0200 a0001c0001t0007g0131 others(13): Show a0001c0001t0001g0054 a0001c0001t0004g0200 a0001c0001t0007g0131 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0003t0001g0080 a0001c0003t0002g0002 a0001c0003t0002g0081 a0001c0003t0002g0086 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0004g0195 a0002c0010t0002g0101	16	149	0.1074	-108	c.978 others(17): Show c.978-5705_978-5598del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772046	GGACACTC others(101): Show GGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTG GGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAGG AGTGGGACA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	136	0.0074	-108	c.978 others(17): Show c.978-5543_978-5436del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772128	GGCAGCCA others(101): Show GGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGG CCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACA GAGGCCACA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03490.hp2 HG03492.hp1 others(1): Show HG01167.hp1 HG03490.hp2 HG03492.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0011 a0001c0003t0002 a0001c0003t0003 others(1): Show a0001c0001t0011 a0001c0003t0002 a0001c0003t0003 a0002c0002t0002	a0001c0001t0011g0141 a0001c0003t0002g0095 a0001c0003t0003g0204 others(1): Show a0001c0001t0011g0141 a0001c0003t0002g0095 a0001c0003t0003g0204 a0002c0002t0002g0098	4	194	0.0206	-108	c.978 others(17): Show c.978-5532_978-5425del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772468	AGAGTGGG others(101): Show AGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCG ATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCA CCCCACGAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0040 a0001c0005t0002g0040	1	200	0.0050	-108	c.978 others(17): Show c.978-5165_978-5058del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772567	ACCCCACG others(101): Show ACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGC AGCCACCCCACGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCA CGGCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	168	0.0060	-108	c.978 others(17): Show c.978-5095_978-4988del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772621	ACCCCACG others(101): Show ACCCCACGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGC AGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCA CGGCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18952.hp2 HG03654.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0001 a0001c0011t0001 a0001c0003t0001 a0001c0011t0001	a0001c0003t0001g0145 a0001c0011t0001g0172 a0001c0003t0001g0145 a0001c0011t0001g0172	2	143	0.0140	-108	c.978 others(17): Show c.978-5012_978-4905del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772659	AGAGGCCA others(101): Show AGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTG ACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGC ACTGACACG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	128	0.0078	-108	c.978 others(17): Show c.978-4834_978-4727del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INTS1_chr7_1465277_1509389	1481630	AAGACCTG others(101): Show AAGACCTGGGGCAGTGCACACTCGGCAGCCCCACCTGAGACCCTGGGCCA CGTGGGCTCGGTGACCCCACCCAAGACCTGGGGCAGTGCACACTCGGCAG CCCCACCCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp2 HG02004.hp2 others(11): Show HG00438.hp1 HG01099.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02165.hp2 HG02293.hp2 NA18945.hp1 NA18950.hp2 NA18952.hp2 NA18982.hp2 NA18985.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0157 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0187 a0001c0002t0002g0077	14	314	0.0446	-108	c.370 others(17): Show c.3704-250_3704-143del		INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	27/47						chr7	TogoVar
IQCE_chr7_2553979_2619728	2561058	AAGGATTC others(101): Show AAGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGACTACAGGCGCCTG CCACCACACCCAGCTAATTTTTCTATTTTTAGTAGAGGTGGGGTTTCACC ATGTTGGCC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00639.hp2 others(89): Show HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18956.hp1 NA18968.hp2 NA18977.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19060.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0007 a0008 a0011 a0013 a0015 a0016 a0022	a0001c0001 a0001c0003 a0001c0010 others(18): Show a0001c0001 a0001c0003 a0001c0010 a0001c0028 a0001c0033 a0002c0002 a0002c0004 a0002c0012 a0002c0015 a0003c0005 a0003c0020 a0003c0024 a0006c0043 a0006c0047 a0007c0006 a0008c0013 a0011c0018 a0013c0041 a0015c0049 a0016c0048 a0022c0042	a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 others(44): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0001t0021 a0001c0001t0031 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0003t0001 a0001c0003t0004 a0001c0003t0020 a0001c0003t0030 a0001c0010t0009 a0001c0010t0054 a0001c0028t0052 a0001c0033t0009 a0002c0002t0003 a0002c0002t0018 a0002c0004t0003 a0002c0004t0071 a0002c0012t0019 a0002c0012t0079 a0002c0015t0036 a0002c0015t0078 a0003c0005t0008 a0003c0005t0011 a0003c0005t0037 a0003c0005t0087 a0003c0005t0088 a0003c0020t0082 a0003c0020t0083 a0003c0024t0084 a0006c0043t0034 a0006c0047t0064 a0007c0006t0023 a0007c0006t0024 a0007c0006t0047 a0007c0006t0086 a0008c0013t0022 a0008c0013t0067 a0011c0018t0035 a0013c0041t0003 a0015c0049t0080 a0016c0048t0065 a0022c0042t0018	a0001c0001t0004g0174 a0001c0001t0004g0181 a0001c0001t0004g0184 others(89): Show a0001c0001t0004g0174 a0001c0001t0004g0181 a0001c0001t0004g0184 a0001c0001t0005g0166 a0001c0001t0005g0176 a0001c0001t0005g0179 a0001c0001t0017g0082 a0001c0001t0017g0139 a0001c0001t0017g0143 a0001c0001t0017g0151 a0001c0001t0021g0128 a0001c0001t0021g0129 a0001c0001t0031g0141 a0001c0001t0056g0171 a0001c0001t0057g0130 a0001c0001t0060g0177 a0001c0001t0061g0112 a0001c0001t0062g0149 a0001c0003t0001g0408 a0001c0003t0004g0098 a0001c0003t0004g0175 a0001c0003t0020g0117 a0001c0003t0020g0118 a0001c0003t0030g0154 a0001c0010t0009g0120 a0001c0010t0009g0121 a0001c0010t0009g0123 a0001c0010t0009g0148 a0001c0010t0009g0156 a0001c0010t0054g0136 a0001c0028t0052g0172 a0001c0033t0009g0170 a0002c0002t0003g0125 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0140 a0002c0002t0003g0152 a0002c0002t0003g0155 a0002c0002t0003g0157 a0002c0002t0003g0185 a0002c0002t0018g0131 a0002c0002t0018g0135 a0002c0002t0018g0180 a0002c0004t0003g0147 a0002c0004t0003g0161 a0002c0004t0003g0163 a0002c0004t0071g0162 a0002c0012t0019g0119 a0002c0012t0019g0137 a0002c0012t0019g0138 a0002c0012t0019g0169 a0002c0012t0079g0134 a0002c0015t0036g0142 a0002c0015t0078g0144 a0003c0005t0008g0178 a0003c0005t0008g0183 a0003c0005t0008g0188 a0003c0005t0008g0190 a0003c0005t0008g0191 a0003c0005t0008g0192 a0003c0005t0008g0193 a0003c0005t0008g0194 a0003c0005t0011g0182 a0003c0005t0011g0187 a0003c0005t0011g0189 a0003c0005t0011g0195 a0003c0005t0011g0196 a0003c0005t0011g0197 a0003c0005t0037g0167 a0003c0005t0037g0168 a0003c0005t0087g0186 a0003c0005t0088g0164 a0003c0020t0082g0158 a0003c0020t0083g0159 a0003c0024t0084g0109 a0006c0043t0034g0084 a0006c0047t0064g0165 a0007c0006t0023g0145 a0007c0006t0024g0110 a0007c0006t0024g0126 a0007c0006t0024g0150 a0007c0006t0047g0111 a0007c0006t0086g0124 a0008c0013t0022g0050 a0008c0013t0022g0083 a0008c0013t0067g0099 a0011c0018t0035g0113 a0011c0018t0035g0114 a0013c0041t0003g0122 a0015c0049t0080g0127 a0016c0048t0065g0116 a0022c0042t0018g0146	92	414	0.2222	-108	c.36+ others(15): Show c.36+1845_36+1952del		IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr7	TogoVar
ISOC2_chr19_55447985_55466642	55450382	CGGGGACA others(101): Show CGGGGACAGAGACCCAGAGAGAGGGGACAGAGACTCAGAGAGACAGGGGG ACAGGGACCCAGAGAGATGGGGGACAGAGACCCAGAGAGAGGGGGACAGA GACCCAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03209.hp1 NA18963.hp2 HG02965.hp1 HG03209.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0085 a0001c0001t0004g0041 a0001c0001t0003g0085 a0001c0001t0004g0041	3	373	0.0080	-108	c.28 others(11): Show c.2818_*2925del		ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding					2602		chr19	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406008	AGTCTTCC others(101): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01952.hp2 HG02280.hp1 HG00741.hp2 HG01952.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0054 a0001c0001t0027 a0001c0001t0054	a0001c0001t0027g0014 a0001c0001t0054g0061 a0001c0001t0027g0014 a0001c0001t0054g0061	3	262	0.0115	-108	c.71 others(9): Show c.718_*825del		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				718		chr2	TogoVar
ITIH2_chr10_7698316_7754520	7737674	ATATTTTC others(101): Show ATATTTTCTATATTATATTCTATATAATATTCTATATTATATTCTATATA ATATTCTATATTATATTCTATATAATATTCTATATTATATTCTATATAAT ATTCTATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0301 a0001c0002t0001g0301	1	370	0.0027	-108	c.195 others(17): Show c.1958-943_1958-836del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161604	GTCTCTCC others(101): Show GTCTCTCCCTGTGTGATGCTGGGGGGTGTCTCTCCCTGTGTGATGCTGGG GGGTATCTCTCCCTGTGTGATGCTGGGGGGTATCTCTCCCTGTGTGATGC TGGGGGGTA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0042 a0002c0004t0004g0042	1	108	0.0093	-108	c.222 others(19): Show c.2221-1578_2221-1471del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173698	CCTGTGGT others(101): Show CCTGTGGTATGTTCATGGTGGTGTGTGTGTGGTGTGTCTGTGGTGGTCTG TGGTGTGTCTCTGGTGGTCTGTGGTGTGTCTGTGATGTGTTAGTGGTGGT GTGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0028 a0004c0014t0028	a0004c0014t0028g0152 a0004c0014t0028g0152	1	145	0.0069	-108	c.11 others(21): Show c.1103+4667_*1103+4774del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173834	TGTGGTGT others(101): Show TGTGGTGTGTCTGTGGTGGTCTGTGGTGTGTCTCTGGTGGTCTGTGGTGT GTCTGTGATGTGTTAGTGGTGGTGTGTGGTGGCCTGTGGTATGTTCATGG TGGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0151 a0001c0006t0003g0151	1	156	0.0064	-108	c.11 others(21): Show c.1103+4802_*1103+4909del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23						chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173840	GTGTCTGT others(101): Show GTGTCTGTGGTGGTCTGTGGTGTGTCTCTGGTGGTCTGTGGTGTGTCTGT GATGTGTTAGTGGTGGTGTGTGGTGGCCTGTGGTATGTTCATGGTGGTGT GTGTGTGGT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	156	0.0064	-108	c.11 others(21): Show c.1103+4808_*1103+4915del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23						chr10	TogoVar
JCHAIN_chr4_70650541_70671508	70667065	ATGTATTT others(101): Show ATGTATTTTGTATATATCTCACAAAATCTGTATTTTGTATATATCTCACA AAATCTGTATTTTGTATATATCTCACAAAATCTGTATTTTGTATATATCT CACAAAATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG01261.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	291	0.0069	-108	c.-68 others(9): Show c.-683_-576del		JCHAIN	ENSG00000132465.12	transcript	ENST00000254801.9	protein_coding					558		chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528716	AAAGAAAG others(101): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGGAAGGAAG GAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	80	0.0125	-108	c.61+ others(19): Show c.61+419747_61+419854del		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21757155	GAAAGAAA others(101): Show GAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA AAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp1 HG01517.hp1 others(3): Show HG01243.hp2 HG01433.hp1 HG01517.hp1 HG02896.hp2 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0004t0004	a0001c0001t0001g0031 a0001c0001t0002g0020 a0001c0001t0003g0030 others(3): Show a0001c0001t0001g0031 a0001c0001t0002g0020 a0001c0001t0003g0030 a0001c0001t0003g0061 a0001c0001t0009g0057 a0001c0004t0004g0058	6	79	0.0759	-108	c.61+ others(19): Show c.61+191308_61+191415del		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNQ2_chr20_63395208_63477655	63432668	AGAAGGCC others(101): Show AGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCC TCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCC ACCCTCAGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp1 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0063 a0001c0002t0059 a0001c0002t0063	a0001c0002t0059g0035 a0001c0002t0063g0171 a0001c0002t0059g0035 a0001c0002t0063g0171	2	325	0.0062	-108	c.111 others(19): Show c.1118+1033_1118+1140del		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCTD8_chr4_44168903_44453809	44189330	TTCCCTGC others(101): Show TTCCCTGCTTTCAACTAAAGGTCCTTAATATTTTGGAAAACAATTATCAT ATCTAGTCAAAGTTCTCTCCAATTATATAGATCAACCATTATTGGAATAA CGAGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(168): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0003c0005t0001 a0003c0005t0003 a0004c0007t0002	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 others(168): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0002g0097 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0191 a0001c0001t0002g0238 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0268 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0003g0056 a0001c0001t0003g0132 a0001c0001t0003g0196 a0001c0001t0003g0235 a0001c0001t0003g0275 a0001c0001t0004g0231 a0001c0001t0004g0271 a0001c0001t0005g0001 a0001c0001t0006g0002 a0001c0001t0007g0003 a0001c0001t0008g0073 a0001c0001t0009g0293 a0001c0002t0001g0009 a0001c0002t0001g0086 a0001c0002t0001g0105 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0188 a0001c0002t0001g0245 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0006t0001g0008 a0002c0003t0001g0285 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0002g0287 a0003c0005t0001g0004 a0003c0005t0003g0006 a0004c0007t0002g0010	171	294	0.5816	-108	c.962 others(19): Show c.962-14188_962-14081del		KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1						chr4	TogoVar
KHDRBS2_chr6_61674961_62291225	61848469	TTATATAT others(101): Show TTATATATATATATATATATATGTATATATATATATATATATGTATATAT GTATATATATATACATATATATGTATATATATACATATATATATGTATAT ATATATACA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG01074.hp1 others(17): Show HG00408.hp2 HG00438.hp1 HG01074.hp1 HG02056.hp2 HG02129.hp1 HG02723.hp2 HG03017.hp2 HG03831.hp2 NA18612.hp1 NA18945.hp2 NA18989.hp1 NA19003.hp1 NA19009.hp2 NA19057.hp1 NA19068.hp1 NA19070.hp1 NA19084.hp2 NA19086.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0002c0006	a0001c0001t0002 a0001c0004t0002 a0001c0004t0004 others(3): Show a0001c0001t0002 a0001c0004t0002 a0001c0004t0004 a0001c0004t0018 a0001c0011t0004 a0002c0006t0004	a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0093 others(17): Show a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0002g0117 a0001c0004t0002g0146 a0001c0004t0002g0150 a0001c0004t0002g0151 a0001c0004t0002g0152 a0001c0004t0002g0160 a0001c0004t0002g0161 a0001c0004t0002g0163 a0001c0004t0002g0170 a0001c0004t0004g0235 a0001c0004t0004g0242 a0001c0004t0018g0241 a0001c0011t0004g0240 a0002c0006t0004g0186 a0002c0006t0004g0187	20	225	0.0889	-108	c.810 others(19): Show c.810+46058_810+46165del		KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8						chr6	TogoVar
KIF4A_chrX_70285104_70425886	70373577	CGTGTATA others(101): Show CGTGTATATATATACGTATATATATACATATATACGTGTATATATATACG TATATATATACATATATACGTGTATATATATACGTATATATATACATATA TACGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19043.hp1 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0020 a0001c0001t0001g0021	2	256	0.0078	-108	c.167 others(17): Show c.1675-573_1675-466del		KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30						chrX	TogoVar
KLHL26_chr19_18632028_18676721	18653674	ATCCACCC others(101): Show ATCCACCCACCCACCCACCCTTCCATCTACCCACCTGCCCACCCACCCAC CCACCCTTCCATCTACCCACCCACCCACCCATCCATCCGCCCTTCCATCA GTCCACCCT	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	336	0.0030	-108	c.84- others(17): Show c.84-10582_84-10475del		KLHL26	ENSG00000167487.12	transcript	ENST00000300976.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
KLK7_chr19_50971468_50988917	50982964	TCCTCCTC others(101): Show TCCTCCTCCCTCAGACCTAGGAGTCCAGGTCCAAGTCCCTCCTCCCTCAG GCTCAGGAGTCCAGGCCCCAACCCCTCCTCCCTCAGACCCAGGAGTCCAG GCCCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01257.hp2 others(38): Show HG01069.hp1 HG01071.hp2 HG01257.hp2 HG01891.hp1 HG01978.hp1 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18947.hp1 NA19002.hp2 NA19012.hp1 NA19056.hp2 NA19066.hp1 NA19081.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0002t0003 a0001c0002t0007 a0003c0008t0003	a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 others(26): Show a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0104 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0002g0036 a0001c0001t0002g0103 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0004g0141 a0001c0001t0004g0144 a0001c0001t0005g0037 a0001c0001t0005g0140 a0001c0001t0005g0148 a0001c0001t0005g0151 a0001c0001t0013g0153 a0001c0001t0016g0102 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0035 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0007g0150 a0003c0008t0003g0143	41	382	0.1073	-108	c.-58 others(15): Show c.-58-615_-58-508del		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5						chr19	TogoVar
KNDC1_chr10_133155219_133231412	133203093	ACCCCCAA others(101): Show ACCCCCAAACGCACGGCGTCCAGCGGGGAGCACTCGGCCCCCAAACGCAC GGCGTCCAGCGGGGAGCACTCGGCCCCCAAACGCACAGAGTCCAGCGGGG AGCACTCGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(42): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG03239.hp1 HG03654.hp1 HG04204.hp2 NA18943.hp1 NA18963.hp1 NA18999.hp1 NA19005.hp1 NA19030.hp2 NA20905.hp1	a0001 a0015 a0017 others(2): Show a0001 a0015 a0017 a0019 a0029	a0001c0003 a0001c0004 a0001c0027 others(8): Show a0001c0003 a0001c0004 a0001c0027 a0001c0035 a0001c0036 a0001c0039 a0001c0070 a0015c0026 a0017c0050 a0019c0046 a0029c0064	a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 others(10): Show a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0027t0001 a0001c0035t0003 a0001c0036t0001 a0001c0039t0001 a0001c0070t0001 a0015c0026t0001 a0017c0050t0001 a0019c0046t0002 a0029c0064t0001	a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0014 others(39): Show a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0124 a0001c0003t0001g0221 a0001c0003t0001g0268 a0001c0003t0001g0273 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0003t0003g0304 a0001c0004t0001g0029 a0001c0004t0001g0035 a0001c0004t0001g0102 a0001c0004t0001g0104 a0001c0004t0001g0105 a0001c0004t0001g0106 a0001c0004t0001g0126 a0001c0004t0001g0127 a0001c0004t0001g0136 a0001c0004t0001g0156 a0001c0004t0001g0162 a0001c0004t0001g0222 a0001c0004t0002g0210 a0001c0027t0001g0058 a0001c0027t0001g0220 a0001c0035t0003g0260 a0001c0036t0001g0272 a0001c0039t0001g0300 a0001c0070t0001g0034 a0015c0026t0001g0122 a0015c0026t0001g0123 a0017c0050t0001g0115 a0019c0046t0002g0103 a0029c0064t0001g0138	45	329	0.1368	-108	c.338 others(19): Show c.3387+1218_3387+1325del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
LAT2_chr7_74205006_74234834	74214514	AAATATAT others(101): Show AAATATATATAAATATATATATGAATATATATATATATATATGAAAATAT ATATATATGAAAATATATATATAAATATATATATGAAAATATATATAAAT ATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0203 a0001c0001t0006g0203	1	342	0.0029	-108	c.-21 others(17): Show c.-218-297_-218-190del		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LATS2_chr13_20968036_21066586	21007559	ATATATAT others(101): Show ATATATATATATATATATATATATATATAGTATATATATATATAGTGTGT ATATATATATATAGTGTATATATATATATATATATAGTGTGTGTATATAT ATATAGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0009 a0003c0036t0009	a0003c0036t0009g0308 a0003c0036t0009g0308	1	302	0.0033	-108	c.343 others(19): Show c.343-16263_343-16156del		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LCN15_chr9_136754634_136769518	136769410	CCCCGCCA others(101): Show CCCCGCCACCCCCCCATGCACTTCCCCCCCGCCACCCCGCCACCCCCCAT GCACTGCCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCCGCC ACCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 NA18995.hp2 NA19011.hp1 HG00642.hp1 NA18995.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	3	354	0.0085	-108	c.-50 others(11): Show c.-5030_-4923del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4893		chr9	TogoVar
LMLN_chr3_197955217_198048720	198012873	CCTTCAGA others(101): Show CCTTCAGAGTCCCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGTCCC CTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCCCCCTAACTAGTCTGA CTTCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01081.hp1 others(44): Show HG00733.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03704.hp2 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 others(14): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0002t0013 a0002c0002t0015 a0002c0002t0018 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0036 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048	a0002c0002t0002g0001 a0002c0002t0002g0021 a0002c0002t0002g0030 others(43): Show a0002c0002t0002g0001 a0002c0002t0002g0021 a0002c0002t0002g0030 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0143 a0002c0002t0006g0024 a0002c0002t0006g0026 a0002c0002t0006g0027 a0002c0002t0006g0052 a0002c0002t0006g0053 a0002c0002t0006g0054 a0002c0002t0006g0132 a0002c0002t0007g0020 a0002c0002t0007g0040 a0002c0002t0007g0041 a0002c0002t0007g0042 a0002c0002t0007g0045 a0002c0002t0011g0071 a0002c0002t0011g0074 a0002c0002t0011g0075 a0002c0002t0013g0061 a0002c0002t0013g0062 a0002c0002t0013g0063 a0002c0002t0015g0036 a0002c0002t0015g0037 a0002c0002t0018g0017 a0002c0002t0018g0018 a0002c0002t0018g0019 a0002c0002t0028g0035 a0002c0002t0029g0034 a0002c0002t0030g0033 a0002c0002t0031g0046 a0002c0002t0032g0102 a0002c0002t0033g0101 a0002c0002t0036g0058 a0002c0002t0046g0023 a0002c0002t0047g0060 a0002c0002t0048g0028	47	243	0.1934	-108	c.132 others(19): Show c.1320-6379_1320-6272del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16						chr3	TogoVar
LOC112267897_chr13_63741741_63753176	63746888	TCCAGCTA others(101): Show TCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTATGGCTG TGGCTATGGCTCTGGTTATGGCTGTGGCTATGGCTCCAGCTATGGCTGTG GCTATGGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03209.hp2 HG03209.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0007 a0008c0009t0007	a0008c0009t0007g0000 a0008c0009t0007g0000	1	424	0.0024	-108	c.90_ others(6): Show c.90_197del	p.Ser others(11): Show p.Ser31_Thr66del	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	150/1436	90/390	30/129		INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC128092252_chr15_50643802_50691717	50679112	TCCACCCG others(101): Show TCCACCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCATTAACCACC GCACCCAGTCAAAAAAATTTTTTAATTAGCCAGGTTGGTGGTATGGGCCT GTCATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp2 HG01192.hp2 others(17): Show HG00609.hp1 HG01167.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG02083.hp1 HG02258.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03688.hp1 HG03927.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0027 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182	20	386	0.0518	-108	c.187 others(17): Show c.187+7311_187+7418del		LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3						chr15	TogoVar
LRCH3_chr3_197786254_197893436	197877079	CTCACCGC others(101): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03239.hp2 HG02027.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0051 a0001c0001t0001 a0001c0001t0051	a0001c0001t0001g0019 a0001c0001t0051g0099 a0001c0001t0001g0019 a0001c0001t0051g0099	2	264	0.0076	-108	c.220 others(19): Show c.2208+1627_2208+1734del		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877454	GCAGTGAT others(101): Show GCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTT TACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCG CACCCATGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(57): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02293.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG04204.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp2 NA18954.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp2 NA19070.hp1 NA19240.hp2 NA20300.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0005c0015 a0008c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0033 a0001c0001t0034 a0001c0001t0046 a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 a0001c0002t0042 a0001c0002t0072 a0001c0005t0001 a0001c0008t0015 a0001c0008t0041 a0005c0015t0013 a0008c0018t0001	a0001c0001t0001g0064 a0001c0001t0001g0093 a0001c0001t0001g0097 others(57): Show a0001c0001t0001g0064 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0232 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0004g0187 a0001c0001t0004g0210 a0001c0001t0005g0243 a0001c0001t0007g0052 a0001c0001t0007g0066 a0001c0001t0007g0090 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0182 a0001c0001t0007g0227 a0001c0001t0015g0089 a0001c0001t0015g0124 a0001c0001t0033g0038 a0001c0001t0034g0206 a0001c0001t0046g0208 a0001c0002t0001g0036 a0001c0002t0001g0094 a0001c0002t0001g0255 a0001c0002t0004g0135 a0001c0002t0004g0198 a0001c0002t0015g0252 a0001c0002t0042g0087 a0001c0002t0072g0141 a0001c0005t0001g0107 a0001c0005t0001g0229 a0001c0008t0015g0106 a0001c0008t0041g0104 a0005c0015t0013g0274 a0008c0018t0001g0205	60	254	0.2362	-108	c.220 others(19): Show c.2208+1699_2208+1806del		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRIT3_chr4_109843107_109877315	109875933	ATATCCAT others(101): Show ATATCCATGGTGAGACTGCTCCCTATCCATGGTGAGACTGCCCCCATCCA TGGTGAGACTGCCCCCTATCCATGGTGAGACTGCCCCTATCCATGGTGAG ACTGCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0003 a0002c0001t0003g0003	1	292	0.0034	-108	c.51 others(11): Show c.5145_*5252del		LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding					3619		chr4	TogoVar
LRRC27_chr10_132327193_132386508	132356351	GCCAAGAT others(101): Show GCCAAGATTGCCAGCTCTTAAGCTATGGGACATGGGATATCCTGAGTACC ATCCCCCAAGATTGCCAGCTCTTAAGCTATGGGACATGGGATATCCTGAG TACCGTCCC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	279	0.0036	-108	c.117 others(17): Show c.1170+515_1170+622del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132356401	ATCCCCCA others(101): Show ATCCCCCAAGATTGCCAGCTCTTAAGCTATGGGACATGGGATATCCTGAG TACCGTCCCCCAAGATTGCCAGCTCTTAAGCTATGGGACATGGGATATCC TGAGTACCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01070.hp2 others(8): Show HG00140.hp1 HG00140.hp2 HG01070.hp2 HG01099.hp2 HG01346.hp1 HG02109.hp1 HG02559.hp1 HG02572.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0017 a0002c0004 a0005c0017	a0002c0004t0010 a0002c0004t0011 a0002c0004t0016 others(1): Show a0002c0004t0010 a0002c0004t0011 a0002c0004t0016 a0005c0017t0049	a0002c0004t0010g0019 a0002c0004t0010g0021 a0002c0004t0010g0022 others(8): Show a0002c0004t0010g0019 a0002c0004t0010g0021 a0002c0004t0010g0022 a0002c0004t0010g0023 a0002c0004t0010g0024 a0002c0004t0010g0025 a0002c0004t0011g0016 a0002c0004t0011g0017 a0002c0004t0011g0018 a0002c0004t0016g0026 a0005c0017t0049g0269	11	206	0.0534	-108	c.117 others(17): Show c.1170+659_1170+766del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1929808	CCACTGCC others(101): Show CCACTGCCACGTCCCCTGCCCCGTCCCCACTGCCACGTCCCCTCATCCCG TCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCACCA CCACGTCCA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02280.hp1 others(5): Show HG02055.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0165 a0001c0001t0001g0256 a0001c0001t0001g0257 others(5): Show a0001c0001t0001g0165 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0073	8	262	0.0305	-108	c.180 others(19): Show c.1807+6771_1807+6878del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MCF2L_chr13_112964214_113104742	113025120	AGGCAGAG others(101): Show AGGCAGAGTCCCTGTGAGATTTCCCCATCATGCGGTCCCCGTGACTGTGG GTCAGGGCAGAGTCCCTGTGAGGTTTCCCCATTGTGGGGTCCCCGTGACT GTGGGTCGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp2 HG01358.hp1 others(1): Show HG01243.hp1 HG01346.hp2 HG01358.hp1 HG01517.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0009 a0001c0001 a0001c0003 a0003c0009	a0001c0001t0001 a0001c0003t0001 a0003c0009t0011 a0001c0001t0001 a0001c0003t0001 a0003c0009t0011	a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0003t0001g0092 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0003t0001g0092 a0003c0009t0011g0101	4	110	0.0364	-108	c.278 others(15): Show c.278+388_278+495del		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2_chrX_139576770_139713167	139709379	CATATATA others(101): Show CATATATAGCATATACTATATACATAGCATATATAGCATATACTATATAC ATAGTATATATAGCATATACTATGTATATAGTATATGCTATATATACTAT GTATATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	247	0.0040	-108	c.-14 others(11): Show c.-1426_-1319del		MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding					1213		chrX	TogoVar
MCTP2_chr15_94226561_94488952	94242982	TACACGTG others(101): Show TACACGTGTATATGTGTATCTACACATACACGTGTATATGTGTATCTACA CATACACGTGTATATGTGTATCTACACATACACGTGTATATGTGTATCTA CACATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02647.hp1 others(2): Show HG02055.hp1 HG02258.hp1 HG02647.hp1 HG03139.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 others(2): Show a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0002t0019 a0001c0005t0052	a0001c0001t0003g0180 a0001c0001t0011g0058 a0001c0002t0001g0179 others(2): Show a0001c0001t0003g0180 a0001c0001t0011g0058 a0001c0002t0001g0179 a0001c0002t0019g0036 a0001c0005t0052g0178	5	271	0.0185	-108	c.-66 others(19): Show c.-66+11319_-66+11426del		MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22						chr15	TogoVar

Search by Variant

Search

Search Results