Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IPMK_chr10_58186517_58272894	58259671	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	346	0.0029	32	c.190 others(49): Show c.190+7750_190+7751insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	1/5			chr10	TogoVar
IPO11_chr5_62407763_62633582	62435110	G G	GTATATAT others(25): Show GTATATATATGTATATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18980.hp2 NA18955.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0143 a0001c0001t0002g0113 a0001c0001t0002g0143	2	330	0.0061	32	c.-6- others(47): Show c.-6-2157_-6-2156insATGTATATATATGTATATATATGTATATAT AT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62435116	A A	ATATGTAT others(25): Show ATATGTATATATATGTATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19011.hp2 HG02165.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	330	0.0061	32	c.-6- others(47): Show c.-6-2157_-6-2156insATGTATATATATGTATATATATGTATATAT GT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62470816	C C	CTGTTTTT others(25): Show CTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	330	0.0030	32	c.708 others(47): Show c.708+509_708+510insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO5_chr13_97948675_98029296	98010780	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18984.hp1 HG02135.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0223 a0001c0002t0003g0029 a0001c0001t0001g0223 a0001c0002t0003g0029	2	380	0.0053	32	c.205 others(49): Show c.2055+574_2055+575insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18961.hp1 HG00140.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0236 a0001c0001t0002g0203 a0001c0001t0002g0236	2	314	0.0064	32	c.85- others(47): Show c.85-5948_85-5947insAAAAAAAAAAAAAATATATATATATATATA TA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	314	0.0032	32	c.85- others(47): Show c.85-5948_85-5947insAAAAAAAAAAAATATATATATATATATATA TA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02622.hp2 HG00733.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0172 a0001c0001t0004g0283 a0001c0001t0003g0172 a0001c0001t0004g0283	2	314	0.0064	32	c.85- others(47): Show c.85-5948_85-5947insAAAAAAAATATATATATATATATATATATA TA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	314	0.0032	32	c.85- others(47): Show c.85-5948_85-5947insAAAAAATATATATATATATATATATATATA TA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397361	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18999.hp2 NA18992.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0124 a0001c0001t0001g0061 a0001c0001t0001g0124	2	314	0.0064	32	c.85- others(47): Show c.85-5925_85-5924insATATATATATATATATATATATATATTAAT AT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO9_chr1_201824157_201889291	201859180	A A	AATAAATA others(25): Show AATAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01256.hp2 HG01258.hp2 others(4): Show HG01106.hp2 HG01256.hp2 HG01258.hp2 HG02080.hp1 HG02559.hp2 HG02602.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0024 a0001c0001t0062 a0001c0003t0034	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0007g0127 others(4): Show a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0007g0127 a0001c0001t0024g0037 a0001c0001t0024g0040 a0001c0001t0062g0198 a0001c0003t0034g0146	7	396	0.0177	32	c.146 others(49): Show c.1468+189_1468+190insAATATATATATATATATATATATATATA TATA	IPO9	ENSG00000198700.10	transcript	ENST00000361565.9	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
IPO9_chr1_201824157_201889291	201859180	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0317 a0001c0001t0012g0317	1	396	0.0025	32	c.146 others(49): Show c.1468+213_1468+214insTATATATATATATATATATATATATATA TATA	IPO9	ENSG00000198700.10	transcript	ENST00000361565.9	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
IQANK1_chr8_143729139_143795645	143751662	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0038 a0001c0010t0001g0038	1	349	0.0029	32	c.175 others(51): Show c.175+11715_175+11716insATATATATATATATATATATATATAT ATATAT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143751664	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	349	0.0029	32	c.175 others(51): Show c.175+11717_175+11718insGTATATATATATATATATATATATAT ATATAT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp2 HG01928.hp1 others(5): Show HG01099.hp2 HG01192.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG02300.hp1 NA18940.hp1 NA18988.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0004 a0003c0003 others(1): Show a0001c0001 a0001c0004 a0003c0003 a0010c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0004t0002 a0003c0003t0006 a0010c0015t0001	a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0003g0001 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0003g0001 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0004t0002g0134 a0003c0003t0006g0207 a0010c0015t0001g0050	8	208	0.0385	32	c.187 others(51): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTCTATAT others(25): Show CTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0008 a0001c0021t0008	a0001c0021t0008g0019 a0001c0021t0008g0019	1	208	0.0048	32	c.187 others(51): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TATAGA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236357861	C C	CTATATAT others(25): Show CTATATATACATATACTATATATATATTTATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0009 a0002c0023t0009	a0002c0023t0009g0178 a0002c0023t0009g0178	1	208	0.0048	32	c.186 others(51): Show c.1869+5918_1869+5919insTTATAAATATATATATAGTATATGTA TATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236358310	G G	GATATATA others(25): Show GATATATACTATATGAATATATAATATATAGAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18970.hp1 NA18974.hp2 others(5): Show NA18940.hp1 NA18970.hp1 NA18974.hp2 NA18993.hp2 NA19005.hp2 NA19009.hp2 NA19077.hp1 NA19086.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0020 a0003c0003 a0009c0020	a0003c0003t0001 a0003c0003t0006 a0009c0020t0003 a0003c0003t0001 a0003c0003t0006 a0009c0020t0003	a0003c0003t0001g0047 a0003c0003t0001g0049 a0003c0003t0001g0062 others(5): Show a0003c0003t0001g0047 a0003c0003t0001g0049 a0003c0003t0001g0062 a0003c0003t0001g0068 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0006g0207 a0009c0020t0003g0005	8	208	0.0385	32	c.186 others(51): Show c.1869+5469_1869+5470insATCTATATATTATATATTCATATAGT ATATAT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236416721	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATTTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG00099.hp1 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0085 a0001c0004t0002g0117 a0001c0004t0002g0085 a0001c0004t0002g0117	2	208	0.0096	32	c.113 others(51): Show c.1134+2427_1134+2428insTAAAAATATATATATATATATATATA TATAAA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	8/18			chr2	TogoVar
IQCE_chr7_2553979_2619728	2615295	A A	ATATATGT others(25): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18946.hp2 NA19077.hp2 NA18747.hp2 NA18946.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0013 a0002c0002t0002 a0002c0002t0003 a0002c0002t0013	a0002c0002t0002g0078 a0002c0002t0003g0398 a0002c0002t0013g0351 a0002c0002t0002g0078 a0002c0002t0003g0398 a0002c0002t0013g0351	3	416	0.0072	32	c.51 others(43): Show c.5133_*5134insTATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding		568		chr7	TogoVar
IQCJ_chr3_159064319_159268747	159200104	A A	AATAAATA others(25): Show AATAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0102 a0001c0001t0011g0102	1	252	0.0040	32	c.10- others(49): Show c.10-45736_10-45735insAATATATATATATATATATATATATATA TATA	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159200104	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02027.hp1 HG02572.hp1 others(6): Show HG01516.hp1 HG02027.hp1 HG02572.hp1 HG02897.hp1 HG02965.hp1 HG03486.hp2 NA18943.hp1 NA18955.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0001g0243 a0001c0001t0002g0034 others(6): Show a0001c0001t0001g0068 a0001c0001t0001g0243 a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0080 a0001c0001t0002g0090 a0001c0001t0002g0104 a0001c0001t0002g0132 a0001c0001t0002g0230	9	252	0.0357	32	c.10- others(49): Show c.10-45723_10-45722insATATATATATATATATATATATATATAT ATAT	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	244	0.0041	32	c.690 others(49): Show c.690+9500_690+9501insAAAAAATATATATATATATATATATATA TATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG01891.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0158 a0001c0001t0001g0159	2	244	0.0082	32	c.690 others(49): Show c.690+9500_690+9501insAAAATATATATATATATATATATATATA TATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCM_chr4_149346709_149820843	149368992	G G	GTATATAT others(25): Show GTATATATATATGTGTATATATATACACGTGTA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	252	0.0040	32	c.139 others(53): Show c.1391-16927_1391-16926insTACACGTGTATATATATACACATA TATATATA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149392265	T T	TATTCTTC others(25): Show TATTCTTCGTTTCGTTCCTTTCCTTCCACACAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	252	0.0040	32	c.139 others(53): Show c.1391-40200_1391-40199insTTGTGTGGAAGGAAAGGAACGAAA CGAAGAAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149626392	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02257.hp2 others(11): Show HG01255.hp2 HG01884.hp2 HG02257.hp2 HG02559.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03704.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18955.hp2 NA19030.hp1 NA19066.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0011 a0001c0001 a0001c0002 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0010c0011t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0039 others(11): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0160 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0002g0012 a0001c0002t0001g0133 a0001c0002t0002g0129 a0010c0011t0001g0119	14	252	0.0556	32	c.566 others(49): Show c.566-5149_566-5148insATATATATATATATATATATATATATAT ATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	7/13			chr4	TogoVar
IQGAP1_chr15_90383242_90507239	90422628	A A	ATATATAT others(25): Show ATATATATATATGTATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	360	0.0028	32	c.156 others(49): Show c.156-3470_156-3439dupGTATATGTATATATATATATGTATATAT ATAT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP1_chr15_90383242_90507239	90439592	C C	CTTAATAA others(25): Show CTTAATAATGTGAACATGATTAGTGAGTCTCAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0264 a0001c0002t0004g0100 a0001c0002t0004g0265 a0001c0001t0001g0264 a0001c0002t0004g0100 a0001c0002t0004g0265	3	360	0.0083	32	c.535 others(47): Show c.535+196_535+227dupAATAATGTGAACATGATTAGTGAGTCTCAG TT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76610050	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0089 a0004c0005t0001g0089	1	222	0.0045	32	c.135 others(49): Show c.1358-943_1358-942insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76610076	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0165 a0018c0021t0001g0165	1	222	0.0045	32	c.135 others(49): Show c.1358-943_1358-942insCTCTCTCTCTCTCTCTCTCTCTATATAT ATAT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76610076	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0027 a0027	a0027c0035 a0027c0035	a0027c0035t0002 a0027c0035t0002	a0027c0035t0002g0186 a0027c0035t0002g0186	1	222	0.0045	32	c.135 others(49): Show c.1358-943_1358-942insCTCTCTCTCTCTCTCTCTCTCTCTCTAT ATAT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02897.hp1 others(1): Show HG01257.hp1 HG01258.hp2 HG02897.hp1 HG02922.hp1	a0001 a0015 a0001 a0015	a0001c0002 a0001c0009 a0015c0023 a0001c0002 a0001c0009 a0015c0023	a0001c0002t0005 a0001c0009t0004 a0015c0023t0007 a0001c0002t0005 a0001c0009t0004 a0015c0023t0007	a0001c0002t0005g0221 a0001c0009t0004g0187 a0015c0023t0007g0034 others(1): Show a0001c0002t0005g0221 a0001c0009t0004g0187 a0015c0023t0007g0034 a0015c0023t0007g0043	4	222	0.0180	32	c.209 others(51): Show c.2094+3214_2094+3215insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQSEC1_chr3_12892043_13078429	12964299	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	250	0.0040	32	c.24- others(49): Show c.24-22435_24-22434insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	1/13			chr3	TogoVar
IQSEC3_chr12_61767_183455	159936	T T	TTTCTGGA others(25): Show TTTCTGGAAAGTGTCCCTCAGTGCCGTCTTTTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0004 a0007c0021t0004	a0007c0021t0004g0253 a0007c0021t0004g0253	1	282	0.0036	32	c.244 others(51): Show c.2444-1988_2444-1957dupTCTGGAAAGTGTCCCTCAGTGCCGTC TTTTGT	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	183002	G G	GAAATGAC others(25): Show GAAATGACTAATAAAGTTGACAAACCTCTGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0113 a0001c0003t0001g0113	1	282	0.0036	32	c.79 others(43): Show c.7969_*7970insAAATGACTAATAAAGTTGACAAACCTCTGATA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding		4548		chr12	TogoVar
IRAG1_chr11_10568095_10698755	10622876	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	278	0.0036	32	c.144 others(49): Show c.1447+901_1447+902insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	10/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680336	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0018 a0018	a0018c0043 a0018c0043	a0018c0043t0007 a0018c0043t0007	a0018c0043t0007g0261 a0018c0043t0007g0261	1	278	0.0036	32	c.67+ others(49): Show c.67+13199_67+13200insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680344	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0216 a0001c0001t0026g0216	1	278	0.0036	32	c.67+ others(49): Show c.67+13191_67+13192insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680344	G G	GGAAGGAA others(25): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 NA18960.hp1 HG02145.hp1 HG02809.hp2 NA18960.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0004c0030 a0001c0001 a0004c0007 a0004c0030	a0001c0001t0001 a0004c0007t0005 a0004c0030t0007 a0001c0001t0001 a0004c0007t0005 a0004c0030t0007	a0001c0001t0001g0084 a0004c0007t0005g0235 a0004c0030t0007g0125 a0001c0001t0001g0084 a0004c0007t0005g0235 a0004c0030t0007g0125	3	278	0.0108	32	c.67+ others(49): Show c.67+13191_67+13192insTTTCTTTCTTTCTTTCTTTCTTTCTTTC CTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680344	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02109.hp2 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0236 a0001c0005t0001g0241 a0001c0005t0001g0236 a0001c0005t0001g0241	2	278	0.0072	32	c.67+ others(49): Show c.67+13191_67+13192insTTTCTTTCTTTCTTTCTTTCCTTCCTTC CTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 NA18978.hp1 others(2): Show HG01256.hp1 HG01258.hp2 NA18978.hp1 NA18982.hp1 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0001 a0002c0003t0009 a0001c0002t0002 a0002c0003t0001 a0002c0003t0009	a0001c0002t0002g0158 a0001c0002t0002g0206 a0001c0002t0002g0213 others(2): Show a0001c0002t0002g0158 a0001c0002t0002g0206 a0001c0002t0002g0213 a0002c0003t0001g0021 a0002c0003t0009g0022	5	278	0.0180	32	c.67+ others(49): Show c.67+13167_67+13168insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01081.hp1 others(16): Show HG00642.hp1 HG01069.hp2 HG01081.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01934.hp1 HG02027.hp2 HG02698.hp1 HG02698.hp2 HG03017.hp1 HG03516.hp1 HG04115.hp1 NA18952.hp2 NA18966.hp1 NA18970.hp2 NA18993.hp2 NA19089.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0024 a0027	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0002c0011 a0002c0014 a0003c0004 a0004c0007 a0024c0035 a0027c0031	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0004 a0002c0011t0002 a0002c0014t0005 a0003c0004t0008 a0004c0007t0005 a0024c0035t0002 a0027c0031t0002	a0001c0001t0001g0005 a0001c0001t0001g0167 a0001c0001t0002g0142 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0167 a0001c0001t0002g0142 a0001c0001t0002g0168 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0198 a0002c0003t0004g0044 a0002c0011t0002g0010 a0002c0014t0005g0049 a0003c0004t0008g0178 a0004c0007t0005g0266 a0024c0035t0002g0212 a0027c0031t0002g0204	19	278	0.0684	32	c.67+ others(49): Show c.67+13167_67+13168insCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03669.hp2 NA18989.hp1 others(1): Show HG01109.hp1 HG03669.hp2 NA18989.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0001t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0152 a0001c0001t0001g0209 a0001c0002t0002g0214 others(1): Show a0001c0001t0001g0152 a0001c0001t0001g0209 a0001c0002t0002g0214 a0001c0005t0001g0191	4	278	0.0144	32	c.67+ others(49): Show c.67+13167_67+13168insCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG03834.hp2 HG00323.hp1 HG03834.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0317 a0003c0003t0004g0318 a0003c0003t0004g0317 a0003c0003t0004g0318	2	344	0.0058	32	c.76 others(41): Show c.765_*766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar
IRAK3_chr12_66184214_66259622	66215785	T T	TGCACGTG others(25): Show TGCACGTGCACGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0140 a0001c0001t0017g0140	1	346	0.0029	32	c.589 others(49): Show c.589-1382_589-1381insGTGCACGTGCGCGCGCGCGCGCGCGCGC GCAC	IRAK3	ENSG00000090376.11	transcript	ENST00000261233.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK3_chr12_66184214_66259622	66215788	A A	AAGTGCAC others(25): Show AAGTGCACGTGCGCGCGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG01109.hp2 HG02615.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0040 a0004c0005t0071 a0002c0002t0040 a0004c0005t0071	a0002c0002t0040g0019 a0004c0005t0071g0018 a0002c0002t0040g0019 a0004c0005t0071g0018	2	346	0.0058	32	c.589 others(49): Show c.589-1383_589-1382insAGTGCACGTGCGCGCGCGCGCGCGCGCG CGCG	IRAK3	ENSG00000090376.11	transcript	ENST00000261233.9	protein_coding	5/11			chr12	TogoVar
IRAK4_chr12_43753951_43794541	43785608	G G	GTATATAT others(25): Show GTATATATATATGTGTGTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG06807.hp2 HG03139.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	2	354	0.0057	32	c.118 others(49): Show c.1189-779_1189-748dupGTGTGTATATATATATATTTATATATAT ATAT	IRAK4	ENSG00000198001.16	transcript	ENST00000613694.5	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(25): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA19057.hp2 NA18975.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0133 a0001c0001t0011g0135 a0001c0001t0011g0133 a0001c0001t0011g0135	2	420	0.0048	32	c.-39 others(43): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IRF2_chr4_184382729_184479550	184452770	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	376	0.0027	32	c.-7+ others(49): Show c.-7+21608_-7+21609insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	1/8			chr4	TogoVar

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