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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GPC5_chr13_91393621_92872237	91571886	C C	CGTGTGTG others(191): Show CGTGTGTGTATGTATACACACATATACGTGTGTGTATGTATACACACATA TACGTGTGTGTATGTATACACACATATACGTGTGTGTGTATACACACATA TACGTGTGTGTGTATACACACATATACGTGTGTGTGTATACACACATATA CGTGTGTGTGTATACACACATATACGTGTGTGTATACACACATATACGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	18	0.0556	198	c.326 others(219): Show c.326-121295_326-121294insGTATGTATACACACATATACGTGT GTGTATGTATACACACATATACGTGTGTGTATGTATACACACATATACGT GTGTGTGTATACACACATATACGTGTGTGTGTATACACACATATACGTGT GTGTGTATACACACATATACGTGTGTGTGTATACACACATATACGTGTGT GTATACACACATATACGTGTGTGT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92347914	T T	TATATATA others(191): Show TATATATAATATATATATTATATATATAATATATATATTATATATATAAT ATATATATTATATATATAATATATATATTATATATATAATATATATATTA TATATATAATATATATATTATATATATAATATATATATTATATATATAAT ATATATATTATATATATAATATATATATTATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	42	0.0238	198	c.156 others(221): Show c.1561+202932_1561+202933insATATATATATTATATATATAAT ATATATATTATATATATAATATATATATTATATATATAATATATATATTA TATATATAATATATATATTATATATATAATATATATATTATATATATAAT ATATATATTATATATATAATATATATATTATATATATAATATATATATTA TATATATAATATATATATAATATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATGTT others(191): Show TATATGTTCATATATATATATGTTCATATATATGTTCATATATATATGTT CATATATATGTATGTTCATATATATATGTACATATATATGTTCATATATG TATGTTCATATATATATGTACATATATATGTTCATATATATATGTTCATA TATATATGTACATATATATGTTCATATATATATGTTCATATATATGTTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	112	0.0089	198	c.143 others(215): Show c.143+2188_143+2189insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATATATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTCATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATGTT others(191): Show TATATGTTCATATATATATATGTTCATATATATGTTCATATATATATGTT CATATATATGTATGTTCATATATATATGTACATATATATGTTCATATATG TATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATA TATATATGTACATATATATGTACATATATATATGTTCATATATATGTTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0207 a0001c0001t0010g0207	1	112	0.0089	198	c.143 others(215): Show c.143+2188_143+2189insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTACATATATATAT GTTCATATATATGTTCATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATGTT others(191): Show TATATGTTCATATATATATATGTTCATATATATGTTCATATATATATGTT CATATATATGTATGTTCATATATATATGTACATATATATGTTCATATATG TATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATA TATATATGTACATATATATGTTCATATATATATGTTCATATATATGTTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02074.hp2 HG02148.hp2 others(7): Show HG02027.hp1 HG02074.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 NA18986.hp1 NA18991.hp1 NA18999.hp1 NA19030.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0130 others(7): Show a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0225 a0001c0001t0001g0226	10	121	0.0826	198	c.143 others(215): Show c.143+2188_143+2189insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTCATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GRAMD1B_chr11_123425269_123632767	123457118	A A	AGAAAGAA others(191): Show AGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAGAAAGAAAGAAAGAA AAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAAGAAAGGAAAGAAAGAAAGAAGAAAGAAAAGAAAGAAGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	280	0.0036	198	c.375 others(217): Show c.375-23698_375-23697insGAAAGAAAGAAAGAAAGAAAGAAGAA AGAAAGAAGAAAGAAAGAAAGAAAAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAGAAAGAAGAAAGGAAAGAAAGAAAGAAGAAA GAAAAGAAAGAAGAAAGGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRHL1_chr2_9946693_10007277	9998449	T T	TGTGTATA others(191): Show TGTGTATATACACATATATATACGTATATATACACATATATATACGTATA TATACACATATATATACGTATATATACACATATATATACGTATATATACA CATATATATACGTATATATACACATATATATACGTATATATACACATATA TATACGTATATATACACATATATATACGTATATATACACATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp2 HG02055.hp1 HG02922.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0056 a0004c0004t0005g0059 a0004c0004t0005g0056 a0004c0004t0005g0059	2	407	0.0049	198	c.167 others(215): Show c.1678-516_1678-515insGTGTATATACACATATATATACGTATAT ATACACATATATATACGTATATATACACATATATATACGTATATATACAC ATATATATACGTATATATACACATATATATACGTATATATACACATATAT ATACGTATATATACACATATATATACGTATATATACACATATATATACGT ATATATACACATATATATAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998573	T T	TACACATA others(191): Show TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACACATATATGTGTACACATA TATATACACATATATGTGTACACATATATATACACATATATGTGTACACA TATATATACACATATATATGTACACATATATATACATATATATGTACAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0175	1	387	0.0026	198	c.167 others(215): Show c.1678-391_1678-390insCACATATATGTGTACACATATATATACA CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATATGTACACATATA TATACATATATATGTACACA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(191): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATATGTACACATATATATACATATATATGTACACATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0304 a0002c0002t0002g0304	1	303	0.0033	198	c.167 others(215): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATATGTACACATATATATACAT ATATATGTACACATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(191): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACACATATATATGTACACAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	303	0.0033	198	c.167 others(215): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATGTGTACACATATATATACAC ATATATATGTACACATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(191): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACATATATATGTACACATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	303	0.0033	198	c.167 others(215): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATGTGTACACATATATATACAT ATATATGTACACATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998583	T T	TACACACA others(191): Show TACACACATATATACATATATGTGTACACACATATATATACATATATGTG TACACATATATACACATATATGTGTACACACATATACATATATATGTACA CACATATACACATATATATGTACACACATATATACACATATATATGTACA CACATATATACACATATATATGTACACATATATATACACATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	383	0.0026	198	c.167 others(215): Show c.1678-379_1678-378insCACATATATACATATATGTGTACACACA TATATATACATATATGTGTACACATATATACACATATATGTGTACACACA TATACATATATATGTACACACATATACACATATATATGTACACACATATA TACACATATATATGTACACACATATATACACATATATATGTACACATATA TATACACATATATATACACA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998583	T T	TGTACACA others(191): Show TGTACACACATATATACACATATATGTGTACACACATATATACACATATA TGTGTACACACATATATACACATATATGTGTACACACATATATACACATA TATGTGTACACACATATATACACATATATGTGTACACACATATATACACA TATATGTGTACACACATATATACACATATATGTGTACACACATATATAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0126 a0004c0004t0002g0126	1	383	0.0026	198	c.167 others(215): Show c.1678-382_1678-381insGTACACACATATATACACATATATGTGT ACACACATATATACACATATATGTGTACACACATATATACACATATATGT GTACACACATATATACACATATATGTGTACACACATATATACACATATAT GTGTACACACATATATACACATATATGTGTACACACATATATACACATAT ATGTGTACACACATATATAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRK5_chr10_119202571_119464745	119287353	G G	GAGGAAGG others(191): Show GAGGAAGGGAGGGAGAGAAGAAGGAGGGAAGAAAGGAAGGGAGGGAGAGA GGGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGAGAG AAGAAGGAGGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAGGAAGGGAG AGAGGAGGAAGGGAAGGAGGAAGGGAGGGAGAGAAGAAGGAGGGAAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0131 a0002c0003t0010g0131	1	162	0.0062	198	c.53- others(215): Show c.53-39146_53-39145insAGAAGGAGGGAAGAAAGGAAGGGAGGGA GAGAGGGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGG AGAGAAGAAGGAGGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAGGAAG GGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGAGAGAAGAAGGAGGGAA GAAAGGAAGGGAGGGAGAGA	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(191): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG01261.hp1 others(1): Show HG00735.hp1 HG01175.hp1 HG01261.hp1 HG02723.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0001 a0001c0001t0004 a0008c0014t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0008c0014t0004 a0008c0014t0052	a0001c0001t0001g0198 a0001c0001t0004g0027 a0008c0014t0004g0138 others(1): Show a0001c0001t0001g0198 a0001c0001t0004g0027 a0008c0014t0004g0138 a0008c0014t0052g0252	4	210	0.0190	198	c.427 others(215): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169680	T T	TATATTGT others(191): Show TATATTGTATATTATATAATATATTGTATATTATATAATATATTGTATAT TATATAATATATAATATATTGTATATTACATATAATATATTGTATATTAT ATATAATATATTGTATATTATATATAATATATTGTATATTATATATTGTA TATTATATAATATATTGTATATTATATATTATATATTGTATATTATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0105 a0001c0001t0043 a0001c0001t0105	a0001c0001t0043g0011 a0001c0001t0105g0011 a0001c0001t0043g0011 a0001c0001t0105g0011	3	300	0.0100	198	c.-34 others(213): Show c.-34-786_-34-785insTGTATATTATATAATATATTGTATATTATA TAATATATTGTATATTATATAATATATAATATATTGTATATTACATATAA TATATTGTATATTATATATAATATATTGTATATTATATATAATATATTGT ATATTATATATTGTATATTATATAATATATTGTATATTATATATTATATA TTGTATATTATATAATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTPBP4_chr10_983434_1024932	1015366	G G	GCTGGGGT others(191): Show GCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTC TGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGG CTGGGGTCCTGAGCGCTGAGCCTGGGTGCGGGGCTGGGGTCCTGAGCGCT GAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0089 a0002c0003t0007g0089	1	220	0.0045	198	c.160 others(215): Show c.1609-359_1609-358insCGGGGCTGGGGTCCTGAGCTCTGAGCCT GGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGT CCTGAGCGCTGAGCCTGGGTGCGGGGCTGGGGTCCTGAGCGCTGAGCCTG GGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTC CTGAGCTCTGAGCCTGGGAG	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015381	T T	TCTGAGCC others(191): Show TCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCG CTGAGCCTGGGTGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGG GCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	215	0.0047	198	c.160 others(215): Show c.1609-359_1609-358insCGGGGCTGGGGTCCTGAGCGCTGAGCCT GGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGT CCTGAGCGCTGAGCCTGGGTGCGGGGCTGGGGTCCTGAGCGCTGAGCCTG GGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTC CTGAGCGCTGAGCCTGGGAG	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015480	G G	GCTGAGCC others(191): Show GCTGAGCCTGGGTGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCT CTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGG GCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01081.hp1 others(7): Show HG01069.hp1 HG01071.hp2 HG01081.hp1 HG02559.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG06807.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0006 a0001c0002 a0006c0006	a0001c0002t0002 a0006c0006t0002 a0001c0002t0002 a0006c0006t0002	a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0105 others(2): Show a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0105 a0001c0002t0002g0126 a0006c0006t0002g0004	10	75	0.1333	198	c.160 others(215): Show c.1609-262_1609-261insTGCGGGGCTGGGGTCCTGAGCGCTGAGC CTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGG GTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCC TGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGG TCCTGAGCTCTGAGCCTGGG	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HAUS1_chr18_46099385_46133333	46112346	T T	TTATATAT others(191): Show TTATATATAATATATATAATGTGTATATATTCCATATTATATATATAATA TATATAATGTGTATATATATTCCATATTATATATATAATATATATAATGT GTATATATATTCCATATTATATATATAATATATATAATGTGTATATATAT TCCATATTATATATATAATATATATAATGTGTATATATATTCCATATTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	252	0.0040	198	c.206 others(215): Show c.206-5806_206-5805insTCCATATTATATATATAATATATATAAT GTGTATATATATTCCATATTATATATATAATATATATAATGTGTATATAT ATTCCATATTATATATATAATATATATAATGTGTATATATATTCCATATT ATATATATAATATATATAATGTGTATATATATTCCATATTATATATATAA TATATATAATGTGTATATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS1_chr18_46099385_46133333	46112346	T T	TTATATAT others(191): Show TTATATATATAATATATATAATGTGTATATATTCCATATTATATATATAA TATATATAATGTGTATATATTCCATATTATATATATAATATATATAATGT GTATATATATTCCATATTATATATATAATATATATAATGTGTATATATAT TCCATATTATATATATAATATATATAATGTGTATATATATTCCATATTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02145.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	253	0.0079	198	c.206 others(215): Show c.206-5827_206-5826insTAATATATATAATGTGTATATATTCCAT ATTATATATATAATATATATAATGTGTATATATTCCATATTATATATATA ATATATATAATGTGTATATATATTCCATATTATATATATAATATATATAA TGTGTATATATATTCCATATTATATATATAATATATATAATGTGTATATA TATTCCATATTATATATATA	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HCN2_chr19_584881_622159	602072	C C	CCCTCCTG others(191): Show CCCTCCTGTGTGGACGCCCCACTTCCTCCCCTCTCCTCCTGCGTGGATGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGTGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGTGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0313 a0002c0010t0001g0313	1	403	0.0025	198	c.633 others(215): Show c.633-1426_633-1425insTGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTTCCTCCTCTCTCCTCCTGTGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGTGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGTGTGGACGCCCCACTTCCT CCCCTCTCCTCCTGCGTGGA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(191): Show TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0120 a0003c0120	a0003c0120t0002 a0003c0120t0002	a0003c0120t0002g0162 a0003c0120t0002g0162	1	212	0.0047	198	c.633 others(215): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC4_chr2_239043168_239406020	239150750	A A	ACACCTTC others(191): Show ACACCTTCACATACAGCAGCAGGAAGTCTCACCACACTGCACCTCCTGAA GTATGTACCACACCTTCACATACAGCAGCAGGAAGTCTCACCACGCTGCA CCTCCTGAAGTATGTACCACACCTTCACGTACAGCAGCAGGAAGTCTCAC TACGCTGCACCTCCTGAAGTATATACCGCACCTCCTGAAGTATATACCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0003 a0001c0003t0017g0003	1	240	0.0042	198	c.733 others(215): Show c.733+5901_733+5902insCGGTATATACTTCAGGAGGTGCGGTATA TACTTCAGGAGGTGCAGCGTAGTGAGACTTCCTGCTGCTGTACGTGAAGG TGTGGTACATACTTCAGGAGGTGCAGCGTGGTGAGACTTCCTGCTGCTGT ATGTGAAGGTGTGGTACATACTTCAGGAGGTGCAGTGTGGTGAGACTTCC TGCTGCTGTATGTGAAGGTG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	7/26			chr2	TogoVar
HES4_chr1_993964_1005097	996348	A A	AGGGGCAC others(191): Show AGGGGCACCCCACATCTGGGGCCACAGGATGCAGGGTGGGGAGGGCAGAA AGGCCCCCCCGCGGGAAGGGGCACCCCACATCTGGGGCCACAGGATGCAG GGTGGGGAGGGCAGAAAGGACCCCCCGCTGGAGGGGGCACCTCACGTCTG GGGCCACAGGATGCAGGGTGGGGAGGACAGAAAGGACCCCCCGCTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(191): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0002c0002 a0003c0005 others(3): Show a0001c0001 a0002c0002 a0003c0005 a0004c0003 a0005c0004 a0007c0007	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0004c0003t0001 a0005c0004t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0002c0002t0001g0006 a0003c0005t0001g0015 a0004c0003t0001g0009 a0005c0004t0001g0010 a0007c0007t0001g0016	194	392	0.4949	198	c.27 others(209): Show c.2710_*2711insCTCCAGCGGGGGGTCCTTTCTGTCCTCCCCACCC TGCATCCTGTGGCCCCAGACGTGAGGTGCCCCCTCCAGCGGGGGGTCCTT TCTGCCCTCCCCACCCTGCATCCTGTGGCCCCAGATGTGGGGTGCCCCTT CCCGCGGGGGGGCCTTTCTGCCCTCCCCACCCTGCATCCTGTGGCCCCAG ATGTGGGGTGCCCC	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding		2615		chr1	TogoVar
HES4_chr1_993964_1005097	996555	T T	TCACGTCT others(191): Show TCACGTCTGGGGCCACAGGATGCAGGGTGGGGAGGACAGAAAGGACCCCC CGCTGGAGGGGGCACCCCACGTCTGGGGCCACAGGATGCAGGGTGGGGAG GGCAGAAAGGACCCCCCACTGGAGGGGGCACCCCACGTCTGGGGCCACAG GATGCAGGGTGGGGAGGACAGAAAGGACCCCCCGCTGGAGGGGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	363	0.0028	198	c.25 others(209): Show c.2503_*2504insGGGTGCCCCCTCCAGCGGGGGGTCCTTTCTGTCC TCCCCACCCTGCATCCTGTGGCCCCAGACGTGGGGTGCCCCCTCCAGTGG GGGGTCCTTTCTGCCCTCCCCACCCTGCATCCTGTGGCCCCAGACGTGGG GTGCCCCCTCCAGCGGGGGGTCCTTTCTGTCCTCCCCACCCTGCATCCTG TGGCCCCAGACGTG	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding		2408		chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(191): Show TCTACCACCTCTACCACCACGACCACCACCACCACCTCTACCACCACCAT CACCACCACCACCACCATCACCACCTCTACCACCACCATCACCACCACCA CTATCACCACCTCTACCACCACCATCACCACCACCACCACCACCACCTCT ACCACCACCATCACCACCACCACCACCATCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	19	0.0526	198	c.520 others(219): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGG TGGTCGTGGTGGTAGAGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(191): Show TCTACCACCTCTACCACCACGACCACCACTACCACCTCTACCACCACCAT CACCACCACCACCACCATCACCACCTCTACCACCACCATCACCACCACCA CTATCACCACCTCTACCACCACCATCACCACCACCACCACCACCACCTCT ACCACCACCATCACCACCACCACCACCATCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00673.hp1 others(15): Show HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG02004.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp1 HG03579.hp1 NA18942.hp1 NA18945.hp2 NA18961.hp1 NA18961.hp2 NA19076.hp2 NA20129.hp2	a0001 a0026 a0030 others(1): Show a0001 a0026 a0030 a0031	a0001c0001 a0001c0032 a0026c0042 others(2): Show a0001c0001 a0001c0032 a0026c0042 a0030c0037 a0031c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0001t0060 a0001c0001t0064 a0001c0001t0073 a0001c0001t0076 a0001c0001t0082 a0001c0032t0074 a0026c0042t0085 a0030c0037t0071 a0031c0034t0011	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0065 others(15): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0002g0011 a0001c0001t0005g0055 a0001c0001t0019g0096 a0001c0001t0060g0054 a0001c0001t0064g0111 a0001c0001t0073g0106 a0001c0001t0076g0131 a0001c0001t0082g0072 a0001c0032t0074g0070 a0026c0042t0085g0047 a0030c0037t0071g0117 a0031c0034t0011g0101	18	36	0.5000	198	c.520 others(219): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGG TGGTCGTGGTGGTAGAGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399534	A A	ACCATCAC others(191): Show ACCATCACCACCACCACCACCACCACCATCACCACCACCATCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCATCATCACCACCA CCACCATCGCCGCCACCACCACCACCACCATCACCATCACCACCACCACC ACCATCACCATCATCACCACCATCACCGCCACCATCACCACCACCACCG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	308	0.0032	198	c.-25 others(215): Show c.-25+2616_-25+2617insATCACCACCACCACCACCACCACCATCA CCACCACCATCATCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCATCATCACCACCACCACCATCGCCGCCACCACCACCACCACCAT CACCATCACCACCACCACCACCATCACCATCATCACCACCATCACCGCCA CCATCACCACCACCACCGCC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HRH3_chr20_62209960_62225278	62213519	A A	ATGGGGGA others(191): Show ATGGGGGAAGGGAGAGCAGGGATGGGGGGGAAGGAGAGTGGGGATGGGTG GGGAAGGAGAGCGGGATGGGGGAAGGGAGAGCAGGTATGGGGGGGGAAGG AGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAGGAGAGCGG GGATGGGGAAGGGAGAGCAAGGATGGGGGGGAAGGAGAGTGGGGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	322	0.0031	198	c.24 others(209): Show c.2486_*2487insCCCATCCCCACTCTCCTTCCCCCCCATCCTTGCT CTCCCTTCCCCATCCCCGCTCTCCTCCCCCATCCCCGCTCTCCTTCCCCC ACCCATCCCCACTCTCCTTCCCCCCCCATACCTGCTCTCCCTTCCCCCAT CCCGCTCTCCTTCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCCTGC TCTCCCTTCCCCCA	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1440		chr20	TogoVar
ICA1_chr7_8108184_8267167	8152671	T T	TCTCCTTC others(191): Show TCTCCTTCACCACCACTACCCCCACCACTACCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACCACCAT CACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCA CCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0230 a0001c0001t0001g0237	2	260	0.0077	198	c.804 others(215): Show c.804+4444_804+4445insGTGGTGGTGGTGGAGGTGATGGTGATGG TGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTG GTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGG GGGTAGTGGTGGTGAAGGAG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152683	T T	TCACCACT others(191): Show TCACCACTACCCCCACCACTACCACCATCTCCTCCACCACCACTACCACC ACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACCACCATCTC CTCCACCACCACTACCACCACCACCACCATCTCCTTCATCACCACTACCC CCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTTCAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0011 a0001c0002t0016g0011	1	231	0.0043	198	c.804 others(215): Show c.804+4432_804+4433insGTGAAGGAGATGGTGGTAGTGGTGGAAG AGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTG GTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGGGGTAGTGGT GGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGG TAGTGGTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IDI2_chr10_1013910_1030859	1015381	T T	TCTGAGCC others(191): Show TCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCG CTGAGCCTGGGTGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGG GCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	271	0.0037	198	c.41 others(209): Show c.4135_*4136insCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGC GCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCC CGCACCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGAG CTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCC GCTCCCAGGCTCAG	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		3528		chr10	TogoVar
IDI2_chr10_1013910_1030859	1015480	G G	GCTGAGCC others(191): Show GCTGAGCCTGGGTGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCT CTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGG GCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01081.hp2 others(7): Show HG01069.hp2 HG01071.hp1 HG01081.hp2 HG02559.hp2 HG03017.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG06807.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0031 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0083	10	73	0.1370	198	c.40 others(209): Show c.4036_*4037insAGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGA GCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGAGCTCAGGACCCCAGCCC CGCTCCCAGGCTCAGAGCTCAGGACCCCAGGTCCACTCCCAGGCTCAGCG CTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCC GCACCCAGGCTCAG	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		3429		chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322981	A A	AATATATA others(191): Show AATATATATACATGGAATATATATATGGAATATATATACATGGAATATAT ATATGGAATATATATACATGGAATATATATATGGAATATATATACATGGA ATATATATATGGAATATATATACATGGAATATATATATGGAATATATATA CATGGAATATATATATGGAATATATATACATGGAATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	297	0.0034	198	c.-20 others(209): Show c.-2075_-2074insATATATATACATGGAATATATATATGGAATATAT ATACATGGAATATATATATGGAATATATATACATGGAATATATATATGGA ATATATATACATGGAATATATATATGGAATATATATACATGGAATATATA TATGGAATATATATACATGGAATATATATATGGAATATATATACATGGAA TATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1988		chr21	TogoVar
IQCJ_chr3_159064319_159268747	159229754	C C	CCCTCCCC others(191): Show CCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTC CTCCTCCCCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCC TCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTC CTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	184	0.0054	198	c.10- others(215): Show c.10-16088_10-16087insCTCCCCCCTCCTCCCCCTCCTCCTCCCC CCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCCCC CTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTT CCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCC CACCTCCCCCCTCCTCCCAC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAG2_chr12_25047706_25113335	25077360	T T	TATGAAAT others(191): Show TATGAAATATATATATGATATATATATGATATATATATATGATATATATA TGATATATATATATGATATATATATGATATATATATATGATATATATATG AGATATATATATGAGATATATATATGAGATATATATATGAGATATATATA TGATATATATATGAGATATATATATGATATATATGAGATATATATATGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp1 HG02818.hp1 NA18522.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0067 a0004c0004t0001g0140 a0004c0004t0001g0067 a0004c0004t0001g0140	2	320	0.0063	198	c.25- others(213): Show c.25-1884_25-1883insATGAAATATATATATGATATATATATGATA TATATATATGATATATATATGATATATATATATGATATATATATGATATA TATATATGATATATATATGAGATATATATATGAGATATATATATGAGATA TATATATGAGATATATATATGATATATATATGAGATATATATATGATATA TATGAGATATATATATGA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21			chr12	TogoVar
ISYNA1_chr19_18429388_18443133	18442176	C C	CCACACCC others(191): Show CCACACCCTAACACATACCACACCCACACCACACACCCACACACACCACA CCCACCCCAACACACACCACACACCCCACACTGCACACCCCAACACACCA CACCCTCACACCACACACCAACACACACCACACCCACACAACACATAAAC CACACCCACACCCAACACACATACCACATCCACACATCCCAACACACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	6	0.1667	198	c.-40 others(209): Show c.-4094_-4093insTGGTGTGTTGGGATGTGTGGATGTGGTATGTGTG TTGGGTGTGGGTGTGGTTTATGTGTTGTGTGGGTGTGGTGTGTGTTGGTG TGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGGTGTGTGGT GTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGTGTGGTA TGTGTTAGGGTGTG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4044		chr19	TogoVar
ITIH5_chr10_7554270_7671966	7593343	A A	ACTGCAGC others(191): Show ACTGCAGCCACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCAGCC CCACTCACCCCTGCAGACTGCAGCCACCCAGCCCCACTCACCCCTGCAGC CTGCAGCCACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCAGCCC CACTCACCCCTGCAGCCTGCAGCCACCCAGCCCCACTCACCCCTGCAGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0031 a0031	a0031c0033 a0031c0033	a0031c0033t0003 a0031c0033t0003	a0031c0033t0003g0141 a0031c0033t0003g0141	1	323	0.0031	198	c.940 others(215): Show c.940-7275_940-7274insGCTGCAGGGGTGAGTGGGGCTGGGTGGC TGCAGGCTGCAGGGGTGAGTGGGGCTGGGTGGCTGCAGGCTGCAGGGGTG AGTGGGGCTGGGTGGCTGCAGGCTGCAGGGGTGAGTGGGGCTGGGTGGCT GCAGTCTGCAGGGGTGAGTGGGGCTGGGTGGCTGCAGGCTGCAGGGGTGA GTGGGGCTGGGTGGCTGCAG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7593376	A A	ACTGCAGC others(191): Show ACTGCAGCCACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCAGCC CCACTCACCCCTGTAGACTGCAGCCACCCAGCCCCACTCACCCCTGTAGA CTGCAGCCACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCAGCCC CACTCACCCCTGCAGCCTGCAGCCACCCAGCCCCACTCACCCCTGCAGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0037 a0005c0013t0037	a0005c0013t0037g0114 a0005c0013t0037g0114	1	251	0.0040	198	c.940 others(215): Show c.940-7308_940-7307insGCTGCAGGGGTGAGTGGGGCTGGGTGGC TGCAGGCTGCAGGGGTGAGTGGGGCTGGGTGGCTGCAGGCTGCAGGGGTG AGTGGGGCTGGGTGGCTGCAGTCTACAGGGGTGAGTGGGGCTGGGTGGCT GCAGTCTACAGGGGTGAGTGGGGCTGGGTGGCTGCAGGCTGCAGGGGTGA GTGGGGCTGGGTGGCTGCAG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITPR2_chr12_26330352_26838194	26784255	A A	ATCTCCCT others(191): Show ATCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0004 a0001c0015t0004	a0001c0015t0004g0032 a0001c0015t0004g0032	1	121	0.0083	198	c.163 others(215): Show c.163+5901_163+5902insGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
JAKMIP1_chr4_6021199_6205549	6067773	C C	CGTTCACT others(191): Show CGTTCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCACG TTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTT CACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCA CTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCCTGAGCTCCAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	225	0.0044	198	c.130 others(217): Show c.1303-2766_1303-2765insCTGGAGCTCAGGGGGGTGACCTGTGT GTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCT GTGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGC GTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGT GTGCGGAAGAGCTTGAGTGAAC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
KBTBD11_chr8_1968677_2011936	1990745	C C	CCTTGGCG others(191): Show CCTTGGCGCCCTGTCCGGGTAGATGCTGCTGGGACTTGGCGCCCTGTCCG GGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGC CTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGG GTAGGTGCTGCCGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0165	1	374	0.0027	198	c.-90 others(217): Show c.-908-9519_-908-9518insATGCTGCTGGGACTTGGCGCCCTGTC CGGGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGG GCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGCGCCCTGTCC GGGTAGGTGCTGCCGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGG ACTTGGCGCCCTGTCCGGGTAG	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990971	C C	CGGGGCCT others(191): Show CGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGCCTTGGCGCCCT GTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGC CGGGACTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTG TCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGTGTAGGTGCTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0149 a0001c0001t0032g0149	1	377	0.0027	198	c.-90 others(217): Show c.-908-9288_-908-9287insGTGCTGCCGGGCCTTGGCGCCCTGTC CGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGG GACTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCC GGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGTGTAGGTGCTGTGGGG CCTTGGCGCCCTGTCCGGGTAG	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TATATATA others(191): Show TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	150	0.0067	198	c.-67 others(217): Show c.-67-49302_-67-49301insATATATATCCAAGAGGATATATATAT ATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGG ATATATATATATATATATATATCCAAGAGGATATATATATATATATATAT ATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATAT ATATATATATATCCAAGAGGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63432602	C C	CTCCACCC others(191): Show CTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGG AAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTC TGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCAC CCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp2 HG01361.hp1 others(2): Show HG00099.hp2 HG01346.hp2 HG01361.hp1 HG02056.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0020 a0001c0002t0032 a0001c0003t0020 a0001c0002t0020 a0001c0002t0032 a0001c0003t0020	a0001c0002t0020g0002 a0001c0002t0032g0037 a0001c0002t0032g0254 others(1): Show a0001c0002t0020g0002 a0001c0002t0032g0037 a0001c0002t0032g0254 a0001c0003t0020g0113	5	328	0.0152	198	c.111 others(217): Show c.1118+1206_1118+1207insTCCTTCCCTGAGGGTGGAGCCTTCCC TGAGGGTGGGGCCTTCCCAGAGGGTGGAGCCTTCCCTGTGGGTGGATCCT TCCCTGAGGGTGGAGCCTTCCCAGAGGGTGGAGCCTTCCCTGTGGGTGGA TCCTTCCCTGAGGGTGGGGCCTTCCCTGAGGGTGGGGCCTTCCCTGTGGG TGGGGCCTTCCCAGAGGGTGGA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TCACCACC others(191): Show TCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACC ATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCACCAT TATCACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCA CCACCATCACCATTATCACCACCACCATCACCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp2 HG02109.hp2 others(16): Show HG00408.hp2 HG01081.hp2 HG02109.hp2 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp2 HG03041.hp2 HG06807.hp1 NA18522.hp1 NA18964.hp2 NA19030.hp1 NA19043.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0012 others(3): Show a0001c0002 a0001c0004 a0001c0012 a0001c0017 a0001c0020 a0002c0001	a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 others(11): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0076 a0001c0004t0080 a0001c0012t0029 a0001c0012t0073 a0001c0012t0084 a0001c0012t0097 a0001c0017t0047 a0001c0020t0011 a0002c0001t0001 a0002c0001t0008 a0002c0001t0050	a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0046 others(16): Show a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0046 a0001c0002t0008g0047 a0001c0002t0011g0030 a0001c0002t0011g0031 a0001c0002t0011g0040 a0001c0002t0076g0052 a0001c0004t0080g0059 a0001c0012t0029g0045 a0001c0012t0073g0036 a0001c0012t0084g0235 a0001c0012t0097g0321 a0001c0017t0047g0055 a0001c0020t0011g0201 a0002c0001t0001g0039 a0002c0001t0001g0056 a0002c0001t0008g0167 a0002c0001t0050g0038	19	214	0.0888	198	c.691 others(213): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGGTG GTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGG TGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTG GTAATGGTGATGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442836	C C	CCACCACC others(191): Show CCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACC ACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCACCAT CACCATTATCACCACCACCATCACCACCATCACCATCACCACCACCACCA TCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0057 a0002c0001t0008g0057	1	328	0.0030	198	c.691 others(213): Show c.691-306_691-305insATGGTGATGGTGATGGTGGTGGTAATGGTG GTGGTAATGGTGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGAT GGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGG TGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTG ATGGTGGTGGTGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4C_chr9_6752973_7180648	6807989	T T	TGGGGGGG others(191): Show TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG TTGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGTGTCAGCCCCCCGCCCGGCCAGCCACCCCCTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0034 a0007c0034	a0007c0034t0001 a0007c0034t0001	a0007c0034t0001g0001 a0007c0034t0001g0001	1	254	0.0039	198	c.320 others(215): Show c.320+2233_320+2234insGCCCGGCCAGCCGCCCCATCCGGGAGGG AGGTTGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCACCCCCTCTGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGGTCAGCCCCCC	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(191): Show TATATATAATATATATATTATATATATGTTATATATATATAATATATATA TTATATATATGTTACATATATATAATATATATATTATATATATGTTACAT ATATATAATATATATATTATATATATGTTATATATATATATAATATATAT ATTATATATATGTTACATATATATAATATATATATTATATATATGTAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0043 a0005c0018t0043	a0005c0018t0043g0155 a0005c0018t0043g0155	1	276	0.0036	198	c.-44 others(209): Show c.-4400_-4399insGTTACATATATATAATATATATATTATATATATG TAACATATATATAATATATATATTATATATATATATAACATATATATAAT ATATATATTATATATATGTAACATATATATAATATATATATTATATATAT GTAACATATATATAATATATATATTATATATATATAACATATATATAATA TATATATTATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar

Search by Variant

Search

Search Results