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
GPHN_chr14_66503147_67186803	66683369	T T	TATGTTCA others(189): Show TATGTTCATATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATGTATGTTCATATATATATGTACATATATATGTTCATATATGTA TGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATATA TATATGTACATATATATGTTCATATATATATGTTCATATATATGTTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02080.hp2 HG02300.hp2 others(4): Show HG01070.hp1 HG02080.hp2 HG02300.hp2 NA18964.hp2 NA18970.hp2 NA18988.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0189 others(4): Show a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0214	7	118	0.0593	196	c.143 others(213): Show c.143+2186_143+2187insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTCAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143211587	G G	GGGAGGAG others(189): Show GGGAGGAGGGGTGAAGATGACGGGAGGCGGTGCACGGGGGAGGCGGGGCA CAGGAGAGGCGGGTCGACAGGGAGGTGGGACGCTGGGGAGAAGGGGCGAA TGGGGGGCGGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGGGCAGTGG GGGAGGCGGGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02735.hp1 NA18951.hp1 others(3): Show HG00544.hp1 HG02735.hp1 NA18951.hp1 NA19005.hp2 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0012 a0001c0003t0003 a0001c0003t0012	a0001c0003t0003g0002 a0001c0003t0012g0002 a0001c0003t0003g0002 a0001c0003t0012g0002	6	88	0.0682	196	c.-16 others(207): Show c.-1681_-1680insGGAGGAGGGGTGAAGATGACGGGAGGCGGTGCAC GGGGGAGGCGGGGCACAGGAGAGGCGGGTCGACAGGGAGGTGGGACGCTG GGGAGAAGGGGCGAATGGGGGGCGGGGCGATGGGGAGGCGGGGCGACGGG AAGTAGGGGCAGTGGGGGAGGCGGGGCATGGGGTAGACAGGTGTGGGGGA GGCGGGGCACCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1630		chr8	TogoVar
GPR157_chr1_9095305_9134102	9116182	A A	ATATTATA others(189): Show ATATTATATATATATAATATAATTATATATTTATATTATATATATTATAT ATAATATAATTATATATAATTATATTATATATATTATATTATATATAATT ATATATAATTATATTATATATTATATGTAATATAAATATATATAATTATA TTATATATATTATATGTAATATAATTATATATATTTATATTATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0168 a0001c0001t0050g0168	1	371	0.0027	196	c.384 others(213): Show c.384-4694_384-4693insATATATAATATAAATATATATAATTATA TTACATATAATATATATAATATAATTATATATATTTATATTACATATAAT ATATAATATAATTATATATAATTATATATAATATAATATATATAATATAA TTATATATAATTATATTATATATAATATATATAATATAAATATATAATTA TATTATATATATATAATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	A A	AGCCTGTG others(189): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGC CTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00741.hp2 others(17): Show HG00140.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01192.hp1 HG01261.hp1 HG01943.hp1 HG02109.hp1 HG02148.hp1 HG02165.hp1 HG02970.hp2 NA18964.hp2 NA18980.hp1 NA19002.hp2 NA19012.hp1 NA19057.hp1 NA19067.hp1 NA19087.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0002 a0001c0001t0025 a0001c0001t0026 others(5): Show a0001c0001t0002 a0001c0001t0025 a0001c0001t0026 a0001c0001t0056 a0001c0001t0060 a0001c0001t0063 a0001c0007t0019 a0001c0009t0061	a0001c0001t0002g0172 a0001c0001t0002g0197 a0001c0001t0002g0262 others(17): Show a0001c0001t0002g0172 a0001c0001t0002g0197 a0001c0001t0002g0262 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0304 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0025g0244 a0001c0001t0026g0293 a0001c0001t0056g0303 a0001c0001t0060g0286 a0001c0001t0063g0305 a0001c0007t0019g0182 a0001c0009t0061g0302	20	143	0.1399	196	c.162 others(213): Show c.162+4846_162+5041dupACCTCACGGCCTGTGTCCTTTCGTCTCC TGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCT GGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTG GGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGG GGACCGGGGATGGGTAGA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRIK1_chr21_29531933_29944996	29560504	C C	CTTTCTTT others(189): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTCCCTTTCTTTCCTTCCTTTCTCTCCCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	162	0.0062	196	c.235 others(215): Show c.2356+1119_2356+1120insAGAAAGAAAGGGAGAGAAAGGAAGGA AAGAAAGGGAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAA	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	15/17			chr21	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(189): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCTTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	207	0.0048	196	c.427 others(213): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(189): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0003 a0002c0017t0003	a0002c0017t0003g0264 a0002c0017t0003g0264	1	207	0.0048	196	c.427 others(213): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653323	T T	TCCCCCCT others(189): Show TCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCCCCTC CTCCTCCTCCCCCCCCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCC CTCCTCCTCCTCCCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0204 a0001c0001t0066g0204	1	287	0.0035	196	c.427 others(211): Show c.427-952_427-951insCCCTCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCCCCCCCCT CCTCCTCCTCCCCCCCCTCCTCCTCCTCCCCCCCCTCCTCCTCCTCCCCC CCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCCCCCTCCT CCTCCTCCTCCTCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
H1-7_chr12_48323980_48335279	48332473	T T	TCCACCTC others(189): Show TCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01175.hp1 others(2): Show HG00741.hp1 HG00741.hp2 HG01175.hp1 HG01255.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	5	253	0.0198	196	c.24 others(207): Show c.2414_*2415insCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCC	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2195		chr12	TogoVar
HAUS1_chr18_46099385_46133333	46112820	A A	ATATATAA others(189): Show ATATATAATATATATAATGTGTATATATATTCCATATTATATATATAATA TATATAATGTGTATATATATTCCATATTATATATATAATATATATAATGT GTATATATATTCCATATTATATATATAATATATATAATGTGTATATATAT TCCATATTATATATATAATATATATAATGTGTATATATATTCCATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0278 a0001c0001t0001g0262 a0001c0001t0001g0278	2	272	0.0074	196	c.206 others(213): Show c.206-5355_206-5354insATATATATAATGTGTATATATATTCCAT ATTATATATATAATATATATAATGTGTATATATATTCCATATTATATATA TAATATATATAATGTGTATATATATTCCATATTATATATATAATATATAT AATGTGTATATATATTCCATATTATATATATAATATATATAATGTGTATA TATATTCCATATTATATA	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HDAC4_chr2_239043168_239406020	239068946	G G	GCACTTGC others(189): Show GCACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACGA CACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGC ACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCA CTTGCTTGGTGAGAGTGAGTCACGGTGCAAGCCAGCAAGCCCCACGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	240	0.0042	196	c.275 others(213): Show c.2751-340_2751-339insTCGTGGGGCTTGCTGGCTTGCACCGTGA CTCACTCTCACCAAGCAAGTGCAGTGGGGCTTGCTGGCTTGCACCGTGAC TCCCTCTCACCAAGCAAGTGCAGTGGGGCTTGCTGGCTTGCACCGTGACT CCCTCTCACCAAGCAAGTGTCGTGGGGCTTGCTGGCTTGCACCGTGACTC CCTCTCACCAAGCAAGTG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239068995	G G	GCACTTGC others(189): Show GCACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG CACTTGCTGGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACGAC ACTTGCTTAGTGAGAGTGAGTCACGGTGCAAGCCAGCAAGCCCCACGACA CTTGCTTAGTGAGAGTGAGTCACGGTGCAAGCCAGCAAGCCCCACGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0035 a0001c0007t0003g0035	1	240	0.0042	196	c.275 others(213): Show c.2751-389_2751-388insTCGTGGGGCTTGCTGGCTTGCACCGTGA CTCACTCTCACTAAGCAAGTGTCGTGGGGCTTGCTGGCTTGCACCGTGAC TCACTCTCACTAAGCAAGTGTCGTGGGGCTTGCTGGCTTGCACCGTGACT CCCTCTCACCCAGCAAGTGCAGTGGGGCTTGCTGGCTTGCACCGTGACTC CCTCTCACCAAGCAAGTG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239069396	T T	TGGTGAGA others(189): Show TGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTT GGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTG GTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGG TGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0025 a0001c0011t0025	a0001c0011t0025g0052 a0001c0011t0025g0052	1	239	0.0042	196	c.275 others(213): Show c.2751-790_2751-789insCAGCAAGTGCAGTGGGGCTTGCTGGCTT GCACCGTGACTCCCTCTCACCAAGCAAGTGCAGTGGGGCTTGCTGGCTTG CACCGTGACTCCCTCTCACCAAGCAAGTGCAGTGGGGCTTGCTGGCTTGC ACCGTGACTCCCTCTCACCAAGCAAGTGCAGTGGGGCTTGCTGGCTTGCA CCGTGACTCCCTCTCACC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(189): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0152 a0001c0001t0031g0152	1	96	0.0104	196	c.221 others(215): Show c.2215-6727_2215-6726insTTCCTTCCTTCCCTCCCTCCCTCCCT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDGFL2_chr19_4467297_4507207	4467387	T T	TATATTAT others(189): Show TATATTATATAATATATAGTATATAAAATATTATATAATATATAATATAT ATTATATAAAAATATTATATAATATATAATATATATTATATAAAAATATT ATATAATATATAATATATATTATATAAAAATATTATATAATATATAATAT ATATTATATAAAAATATTATATAATATATAATATATATTATATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0137 a0001c0008t0003g0137	1	293	0.0034	196	c.-49 others(207): Show c.-4964_-4963insATATTATATAATATATAGTATATAAAATATTATA TAATATATAATATATATTATATAAAAATATTATATAATATATAATATATA TTATATAAAAATATTATATAATATATAATATATATTATATAAAAATATTA TATAATATATAATATATATTATATAAAAATATTATATAATATATAATATA TATTATATAAAA	HDGFL2	ENSG00000167674.15	transcript	ENST00000616600.5	protein_coding		4909		chr19	TogoVar
HERC6_chr4_88373852_88448097	88380194	A A	ATATAAAT others(189): Show ATATAAATATATATAATATATAAATATATATATAATATATAAATATATAT AATATATAAATATATATATAATATATAAATATATATAATATATAAATATA TATATAATATATAAATATATATAATATATAAATATATATATAATATATAA ATATATATAATATATAAATATATATATAATATATAAATATATATAAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0074 a0008c0009t0001g0074	1	96	0.0104	196	c.199 others(213): Show c.199+1074_199+1075insTATAAATATATATAATATATAAATATAT ATATAATATATAAATATATATAATATATAAATATATATATAATATATAAA TATATATAATATATAAATATATATATAATATATAAATATATATAATATAT AAATATATATATAATATATAAATATATATAATATATAAATATATATATAA TATATAAATATATATAAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
HES4_chr1_993964_1005097	996728	A A	AGGACCCC others(189): Show AGGACCCCCCGCTGGAGGGGGCACCCCACGTCTGGGGCCACAGGATGCAG GGTGGGGAGGACAGAAAGGACCCCCCGCTGGAGGGGGCACCCATCTGGGG CCACAGGATGCAGGGTGGGGAGGGCAGAAAGGACCCCCCGCTGGAGGGGG CACCTCACATCTGGGGCCACAGGATGCAGGGTGGGGAGGACAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	33	0.0303	196	c.23 others(207): Show c.2330_*2331insCTTTCTGTCCTCCCCACCCTGCATCCTGTGGCCC CAGATGTGAGGTGCCCCCTCCAGCGGGGGGTCCTTTCTGCCCTCCCCACC CTGCATCCTGTGGCCCCAGATGGGTGCCCCCTCCAGCGGGGGGTCCTTTC TGTCCTCCCCACCCTGCATCCTGTGGCCCCAGACGTGGGGTGCCCCCTCC AGCGGGGGGTCC	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding		2235		chr1	TogoVar
HMMR_chr5_163455632_163496941	163473739	T T	TATAATGT others(189): Show TATAATGTTTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	404	0.0025	196	c.904 others(211): Show c.904+198_904+199insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC ATAATGTTTGTTTTCT	HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
HPN_chr19_35036721_35071573	35061299	C C	CAGCCTGG others(189): Show CAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATT AGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTA GCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAG CCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	372	0.0027	196	c.811 others(211): Show c.811+637_811+638insCAACATGGTGAAACTCCATCTCTACTAAAA ATACAAAAATTAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAA TACAAAAATTAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAAT ACAAAAATTAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATA CAAAAATTAGCCTGGC	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HRAS_chr11_527242_540576	530502	C C	CGAGTGTG others(189): Show CGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGA GAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCC TGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGC GTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00741.hp2 others(10): Show HG00099.hp1 HG00639.hp1 HG00741.hp2 HG01099.hp2 HG01175.hp1 HG01258.hp1 HG01346.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0008 a0001c0002t0003g0005 a0001c0002t0001g0008 a0001c0002t0003g0005	13	296	0.0439	196	c.20 others(207): Show c.2025_*2026insCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTT CTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTC GCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCC ACACTGGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGG GACGCCACACTC	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1739		chr11	TogoVar
HRAS_chr11_527242_540576	530578	G G	GAGAAGGG others(189): Show GAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCC CCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTG GCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGCC AGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0017 a0001c0002t0008g0017	1	330	0.0030	196	c.19 others(207): Show c.1949_*1950insGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAG GGGACGCCACACTGGCCCTTCTGTCCAGGGGACGCCACACTGGCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCAC ACTCCCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1663		chr11	TogoVar
HRAS_chr11_527242_540576	531034	G G	GGAGTGTG others(189): Show GGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGA GAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCC TGGACAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGC GTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02559.hp2 HG01192.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0001 a0001c0002t0009	a0001c0002t0001g0032 a0001c0002t0009g0019 a0001c0002t0001g0032 a0001c0002t0009g0019	2	338	0.0059	196	c.14 others(207): Show c.1493_*1494insGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTT CTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTC GCCCTTCTGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCC ACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGG GACGCCACACTC	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1207		chr11	TogoVar
HSD17B4_chr5_119447497_119547332	119503944	C C	CCCCATTG others(189): Show CCCCATTGTCTGTTGTTCCCATCTTTATGTCCACGTGTACCCAGAGTTCA GCTCCCACTTATAAGTGAAAACACACAGTATTTGGTTTTTTGTTCCTGCA TTAATTCACTTAGGATAATGACGTCCAACTGTATCCATGTTGCTGCGGAG CACATGATTTTGTTCTTTTTCATGGCTGTGTAGTATTCCATGGTATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	378	0.0026	196	c.126 others(215): Show c.1261+1852_1261+1853insCCCATTGTCTGTTGTTCCCATCTTTA TGTCCACGTGTACCCAGAGTTCAGCTCCCACTTATAAGTGAAAACACACA GTATTTGGTTTTTTGTTCCTGCATTAATTCACTTAGGATAATGACGTCCA ACTGTATCCATGTTGCTGCGGAGCACATGATTTTGTTCTTTTTCATGGCT GTGTAGTATTCCATGGTATA	HSD17B4	ENSG00000133835.18	transcript	ENST00000510025.7	protein_coding	14/23			chr5	TogoVar
IFNAR1_chr21_33319970_33364864	33322854	A A	ATGGAATA others(189): Show ATGGAATATATATGTATGGAATATATATATGGAATATACATATGGAATAT ATATATATGGAATATACATATGGAATATATATGTATGGAATATACATATG GAATATATATGTATGGAATATACATATGGAATATATATGTATGGAATATA CATATATGGAATATATATGTATGGAATATATATATATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0223	1	295	0.0034	196	c.-22 others(207): Show c.-2202_-2201insTGGAATATATATGTATGGAATATATATATGGAAT ATACATATGGAATATATATATATGGAATATACATATGGAATATATATGTA TGGAATATACATATGGAATATATATGTATGGAATATACATATGGAATATA TATGTATGGAATATACATATATGGAATATATATGTATGGAATATATATAT ATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2115		chr21	TogoVar
IGF1_chr12_102390874_102485563	102441953	T T	TTCTTCTT others(189): Show TTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	351	0.0028	196	c.221 others(215): Show c.221-22264_221-22263insGAGAAGAAGAAGAAGAAGAAGAAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGAAGAAGA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2R_chr6_159964082_160116504	159980236	A A	AAAGGAAG others(189): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0005 a0001c0049t0005	a0001c0049t0005g0095 a0001c0049t0005g0095	1	305	0.0033	196	c.149 others(215): Show c.149+10845_149+10846insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGG	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IL15RA_chr10_5947384_5982543	5975430	A A	ATGAGGAA others(189): Show ATGAGGAAGTTTCTACTCAATGGTAGAAACTAATGAACTACTTATACAAA TTACAACATGGATAAATTCTCAGGATAATTACTGTCTGTGAAAAAAGCCA AACAAGAAAGAGTTCCTACTGTGTAATTCTATTTATAAAAAATTTTAGAA AGTGCATCAAATTGCCTGGGAGATGGGCGAGGTGGGAGATGAGGACT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp2 HG02258.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0210 a0001c0001t0002g0211	2	454	0.0044	196	c.88+ others(211): Show c.88+1974_88+1975insAGTCCTCATCTCCCACCTCGCCCATCTCCC AGGCAATTTGATGCACTTTCTAAAATTTTTTATAAATAGAATTACACAGT AGGAACTCTTTCTTGTTTGGCTTTTTTCACAGACAGTAATTATCCTGAGA ATTTATCCATGTTGTAATTTGTATAAGTAGTTCATTAGTTTCTACCATTG AGTAGAAACTTCCTCA	IL15RA	ENSG00000134470.21	transcript	ENST00000379977.8	protein_coding	1/6			chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GAGGGGCA others(189): Show GAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0035 a0001c0005t0019g0035	1	13	0.0769	196	c.978 others(213): Show c.978-2483_978-2482insAGGGGCAGGGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AAGGAGGAGGGGCAGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
INSR_chr19_7107265_7299414	7283606	A A	ATTTTTGT others(189): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCACTGTCGCCCAGGCCGGACTGCGGACCGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0126 a0001c0004t0001g0126	1	298	0.0034	196	c.100 others(215): Show c.100+10185_100+10186insATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTC CGGCCTGGGCGACAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAATACAAAAA	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	1/21			chr19	TogoVar
IQSEC1_chr3_12892043_13078429	12892947	C C	CTCTCCAC others(189): Show CTCTCCACCCTCTCCCACTGTGCACCCCCCCAACCCCTGCACCCCACGCA CAACCTCCACAGGGACTCCCCACCCTCTCCCACTGTGCACCCCCCCAACC CCTGCACCCCACGCACAACCTCCACAGAGACTCTCCACCCTCTCCCACTG TGCACCCCCCCAACCCCTGCACCCCACGCACAACCTCCACAGGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	198	0.0051	196	c.80 others(207): Show c.8035_*8036insAGTCCCTGTGGAGGTTGTGCGTGGGGTGCAGGGG TTGGGGGGGTGCACAGTGGGAGAGGGTGGAGAGTCTCTGTGGAGGTTGTG CGTGGGGTGCAGGGGTTGGGGGGGTGCACAGTGGGAGAGGGTGGGGAGTC CCTGTGGAGGTTGTGCGTGGGGTGCAGGGGTTGGGGGGGTGCACAGTGGG AGAGGGTGGAGA	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding		4095		chr3	TogoVar
IRAG2_chr12_25047706_25113335	25077360	T T	TATGAAAT others(189): Show TATGAAATATATATATGATATATATATGATATATATATATGATATATATA TGATATATATATATGATATATATATGATATATATATATGATATATATATG AGATATATATATGATATATATATGAGATATATATATGAGATATATATATG ATATATATATGAGATATATATATGATATATATGAGATATATATATGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	319	0.0031	196	c.25- others(211): Show c.25-1884_25-1883insATGAAATATATATATGATATATATATGATA TATATATATGATATATATATGATATATATATATGATATATATATGATATA TATATATGATATATATATGAGATATATATATGATATATATATGAGATATA TATATGAGATATATATATGATATATATATGAGATATATATATGATATATA TGAGATATATATATGA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21			chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077360	T T	TATGAAAT others(189): Show TATGAAATATATATATGATATATATATGATATATATATATGATATATATA TGATATATATATGATATATATATGATATATATATATGATATATATATGAG ATATATATATGAGATATATATATGAGATATATATATGAGATATATATATG ATATATATATGAGATATATATATGATATATATGAGATATATATATGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0040 a0004c0004t0001g0040	1	319	0.0031	196	c.25- others(211): Show c.25-1884_25-1883insATGAAATATATATATGATATATATATGATA TATATATATGATATATATATGATATATATATGATATATATATGATATATA TATATGATATATATATGAGATATATATATGAGATATATATATGAGATATA TATATGAGATATATATATGATATATATATGAGATATATATATGATATATA TGAGATATATATATGA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21			chr12	TogoVar
IRAK2_chr3_10159919_10248745	10224735	T T	TCCACCCA others(189): Show TCCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACC CACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCA CCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCC CACCAACCCACCCACCCATCCATTTATCCACCTACCCACACATCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	180	0.0056	196	c.121 others(215): Show c.1210-1633_1210-1632insCCCACCCACCCACCCACCCACCCACC CATCCATCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCCA CCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTC CACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCA CCTACCCACACATCCACCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224735	T T	TCCATCCA others(189): Show TCCATCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCACC CATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCA TCCATCCACCTACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACC CACCCACCCATCCATTTATCCACCTACCCACACATCCACCCATCCAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	180	0.0056	196	c.121 others(215): Show c.1210-1629_1210-1628insCCCACCCACCCATCCATCCACCCACC CACCCACCCATCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCTACCCACCTGTCCACCCATGTACC CACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACACA TCCACCCATCCACCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224739	T T	TCCACCCA others(189): Show TCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCACC CATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCA TCCATCCACCTACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACC CACCCACCCATCCATTTATCCACCTACCCACACATCCACCCATCCAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0210 a0004c0005t0001g0210	1	265	0.0038	196	c.121 others(215): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCCACCCATCCACCCATCCATCCACCCACCCACCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCTACCCACCTGTCCACCCATG TACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCA CACATCCACCCATCCACCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA11_chr15_68291532_68437163	68400901	T T	TATATTAT others(189): Show TATATTATATAATAAATATTATAATATTATATATTATATAATAAATATTA TAATATTATATATTATATAATAAATATTATAATATTATATATTATATAAT AAATATTATAATATTATATATTATATAATAAATATTATAATATTATATAT TATATAATAAATATTATAATATTATATATTATATAATAAATATTATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0005 a0001c0063t0005	a0001c0063t0005g0003 a0001c0063t0005g0003	1	162	0.0062	196	c.164 others(213): Show c.164+2016_164+2017insTATAATATTTATTATATAATATATAATA TTATAATATTTATTATATAATATATAATATTATAATATTTATTATATAAT ATATAATATTATAATATTTATTATATAATATATAATATTATAATATTTAT TATATAATATATAATATTATAATATTTATTATATAATATATAATATTATA ATATTTATTATATAATAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITIH5_chr10_7554270_7671966	7566785	A A	AGGAGGAG others(189): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG AAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGAA GGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGGAGAAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0020 a0015c0019t0020	a0015c0019t0020g0101 a0015c0019t0020g0101	1	304	0.0033	196	c.215 others(213): Show c.2150-379_2150-378insCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTCCTCCTCCTCCTTCTC CTCCTCCTTCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCCTTCTCCT CCTCCTTCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
IZUMO3_chr9_24537952_24550897	24546436	C C	CTCCTTTT others(189): Show CTCCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0070 a0007c0007t0002g0070	1	420	0.0024	196	c.-78 others(205): Show c.-788_-787insAGAAAAGAAAAGAAAAGAAAGAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGGA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		540		chr9	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(189): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02723.hp1 HG01934.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0031 a0001c0002t0002g0019 a0001c0001t0002g0031 a0001c0002t0002g0019	2	323	0.0062	196	c.-86 others(205): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JPH3_chr16_87597508_87703156	87614268	A A	ACAGGCCC others(189): Show ACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG CAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGC AGGTCCCTGTACACAGGAGGAGCTACACGTCCCCTCCCAGGATAAACACA GGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0168 a0001c0024t0001g0168	1	93	0.0108	196	c.382 others(215): Show c.382+10744_382+10745insCCCCTGTATACAGGAGGAGCTGTGCG TCCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGT CCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTACACGTC CCCTCCCAGGATAAACACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCC CCTCCAAGGATAAAGGCAGG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87614268	A A	ACAGGCCC others(189): Show ACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG CAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGC AGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGCA GGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01074.hp1 others(30): Show HG00140.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG02027.hp1 HG02055.hp1 HG02155.hp1 HG02451.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG04204.hp2 NA18522.hp1 NA18965.hp2 NA18969.hp2 NA18986.hp2 NA19009.hp1 NA19043.hp2 NA19088.hp1 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0016 a0001c0039 a0001c0050 a0007c0029	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0007 a0001c0005t0008 a0001c0005t0037 a0001c0006t0001 a0001c0006t0006 a0001c0007t0001 a0001c0007t0007 a0001c0008t0005 a0001c0009t0001 a0001c0009t0003 a0001c0010t0002 a0001c0012t0002 a0001c0016t0001 a0001c0039t0001 a0001c0050t0001 a0007c0029t0001	a0001c0001t0001g0004 a0001c0002t0001g0003 a0001c0002t0001g0127 others(30): Show a0001c0001t0001g0004 a0001c0002t0001g0003 a0001c0002t0001g0127 a0001c0002t0001g0180 a0001c0002t0001g0219 a0001c0002t0001g0257 a0001c0002t0006g0155 a0001c0003t0001g0372 a0001c0004t0001g0041 a0001c0004t0001g0129 a0001c0004t0001g0245 a0001c0005t0001g0115 a0001c0005t0001g0117 a0001c0005t0007g0368 a0001c0005t0008g0084 a0001c0005t0008g0143 a0001c0005t0037g0154 a0001c0006t0001g0042 a0001c0006t0006g0162 a0001c0007t0001g0116 a0001c0007t0007g0244 a0001c0008t0005g0361 a0001c0009t0001g0369 a0001c0009t0003g0146 a0001c0010t0002g0049 a0001c0012t0002g0310 a0001c0012t0002g0360 a0001c0016t0001g0011 a0001c0016t0001g0238 a0001c0016t0001g0330 a0001c0039t0001g0327 a0001c0050t0001g0242 a0007c0029t0001g0220	33	125	0.2640	196	c.382 others(215): Show c.382+10744_382+10745insCCCCTGTATACAGGAGGAGCTGTGCG TCCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGT CCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTC CCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCC CCTCCAAGGATAAAGGCAGG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87614268	A A	ACAGGTCC others(189): Show ACAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG CAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGC AGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGCA GGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp2 HG01109.hp1 HG02723.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0320 a0001c0010t0003g0323 a0001c0010t0003g0320 a0001c0010t0003g0323	2	94	0.0213	196	c.382 others(215): Show c.382+10898_382+10899insACACAGGAGGAGCTGTGCGTCCCCTC CAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCC AAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCA AGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAA GGATAAAGGCAGGTCCCTGT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87614405	A A	AAGGATAA others(189): Show AAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCA AGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAA GGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAG GATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19090.hp1 NA18970.hp1 NA19090.hp1	a0001 a0008 a0001 a0008	a0001c0038 a0008c0043 a0001c0038 a0008c0043	a0001c0038t0001 a0008c0043t0001 a0001c0038t0001 a0008c0043t0001	a0001c0038t0001g0069 a0008c0043t0001g0112 a0001c0038t0001g0069 a0008c0043t0001g0112	2	211	0.0095	196	c.382 others(215): Show c.382+10898_382+10899insACACAGGAGGAGCTGTGCGTCCCCTC CAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCC AAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCA AGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCCA GGATAAAGGCAGGTCCCTGT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87614405	A A	AAGGATAA others(189): Show AAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCA AGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAA GGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCCAG GATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0026 a0001c0019t0001g0026	1	210	0.0048	196	c.382 others(215): Show c.382+10898_382+10899insACACAGGAGGAGCTGTGCGTCCCCTC CAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCC AAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCC AGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCCA GGATAAAGGCAGGTCCCTGT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNIP4_chr4_20723606_21953772	21234492	T T	TTATATAT others(189): Show TTATATATAACATATATAACATATATTATATATAACATATATTATATATA ACATATATAACATATATTATATATAACATATATAACATATATTATATATA ACATATATAAATTATATATAACATACATTATATATAACATATATAATATA TAACATACATCATATATAACATATATAATATATTATATAACATATAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	57	0.0175	196	c.62- others(215): Show c.62-351784_62-351783insGTATATGTTATATAATATATTATATA TGTTATATATGATGTATGTTATATATTATATATGTTATATATAATGTATG TTATATATAATTTATATATGTTATATATAATATATGTTATATATGTTATA TATAATATATGTTATATATGTTATATATAATATATGTTATATATAATATA TGTTATATATGTTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TATATATA others(189): Show TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	150	0.0067	196	c.-67 others(215): Show c.-67-49302_-67-49301insATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0930_chr22_45187244_45245894	45228711	A A	ACACTCAC others(189): Show ACACTCACCCGAAAGATCCCTCTCCACCCCCCTACCACCACTCACCCGAA AGATCCCTCCCCATCCCCCCCAACCACCAAACACTCACCTGAGAGATCCC TCTCCACCCCCCAACCACCAACCACTCACCTGAGAGATCCCTCTCCACCC CCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0295 a0001c0001t0004g0295	1	379	0.0026	196	c.64+ others(213): Show c.64+11928_64+11929insGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTT GGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGG GGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTAGGGGGGTGGAGAG GGATCTTTCGGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228896	C C	CCCCCACC others(189): Show CCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACA CTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCC CTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCC ACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0140	a0001c0001t0140g0132 a0001c0001t0140g0132	1	350	0.0029	196	c.64+ others(213): Show c.64+11743_64+11744insTGGTGGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGG TGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCT TTCGGGTGAGTGGTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229209	A A	ACCACCAA others(189): Show ACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAA CACTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAA AGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCC ACCCCCGCCACCACCACTCACCCTAAAGATCCCTCCCCATCCCCCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	393	0.0025	196	c.64+ others(213): Show c.64+11430_64+11431insGGGGGGGATGGGGAGGGATCTTTAGGGT GAGTGGTGGTGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGG CGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGA GGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCT CGGGTGAGTGTTTGGTGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KLHL1_chr13_69695597_70113452	69935206	G G	GTACTGGT others(189): Show GTACTGGTGAACTTGGTCCATAGTTCACCTACTGGTGAACTTGGTCCATA GTTCACCTACTGGTGAACTTGGTCCATAGTTCACCTACTGGTGAACTTGG TCCATAGTTCACCTACTGGTGAACTTGGTCCATAGTTCACCTACTGGTGA ACTTGGTCCATAGTTCACCTACTGGTGAACTTGGTCCATAGTTCACC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp2 HG02258.hp1 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0008 a0003c0009t0023 a0001c0001t0008 a0003c0009t0023	a0001c0001t0008g0075 a0003c0009t0023g0179 a0001c0001t0008g0075 a0003c0009t0023g0179	2	167	0.0120	196	c.101 others(215): Show c.1014+4833_1014+4834insGGTGAACTATGGACCAAGTTCACCAG TAGGTGAACTATGGACCAAGTTCACCAGTAGGTGAACTATGGACCAAGTT CACCAGTAGGTGAACTATGGACCAAGTTCACCAGTAGGTGAACTATGGAC CAAGTTCACCAGTAGGTGAACTATGGACCAAGTTCACCAGTAGGTGAACT ATGGACCAAGTTCACCAGTA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	4/10			chr13	TogoVar

Search by Variant

Search

Search Results