Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01346.hp1 NA18951.hp1 others(1): Show HG01257.hp2 HG01346.hp1 NA18951.hp1 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0001 a0003c0004t0004 a0003c0004t0016 a0001c0005t0001 a0003c0004t0004 a0003c0004t0016	a0001c0005t0001g0290 a0001c0005t0001g0291 a0003c0004t0004g0008 others(1): Show a0001c0005t0001g0290 a0001c0005t0001g0291 a0003c0004t0004g0008 a0003c0004t0016g0084	4	75	0.0533	34	c.281 others(51): Show c.281-1161_281-1160insATATATATATATATATATATATTTTTTT TTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03654.hp1 NA19004.hp2 HG00609.hp1 HG03654.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067	3	74	0.0405	34	c.281 others(51): Show c.281-1161_281-1160insATATATATATATATATATATATATTTTT TTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5D_chr2_233055342_233212903	233116248	G G	GATAGATA others(27): Show GATAGATAGATAGATAGATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03516.hp2 others(2): Show HG02622.hp2 HG02717.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0005t0002 a0002c0002t0003	a0001c0001t0004g0060 a0001c0001t0006g0309 a0001c0001t0008g0249 others(2): Show a0001c0001t0004g0060 a0001c0001t0006g0309 a0001c0001t0008g0249 a0001c0005t0002g0025 a0002c0002t0003g0286	5	87	0.0575	34	c.199 others(51): Show c.199-5852_199-5851insGATAGATAGATAGATATAGATATAGATA TAGATA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5E_chr9_136423619_136444845	136429813	G G	GAGGAGGA others(27): Show GAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp2 HG03453.hp1 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	380	0.0053	34	c.180 others(48): Show c.1803-40_1803-7dupGGCCCTGGGTGCCCTCCTAACGCCCCCTCCT CCT	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	9/9			chr9	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0301 a0001c0003t0003g0301	1	194	0.0052	34	c.315 others(51): Show c.315+3531_315+3532insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INSC_chr11_15109923_15252208	15113119	C C	CTCTCTTT others(27): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0257 a0001c0002t0006g0257	1	208	0.0048	34	c.-19 others(45): Show c.-1930_-1929insTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1803		chr11	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0077 a0001c0002t0005g0077	1	146	0.0068	34	c.-19 others(45): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSR_chr19_7107265_7299414	7197514	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG00280.hp1 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0037 a0001c0004t0128 a0001c0002t0037 a0001c0004t0128	a0001c0002t0037g0159 a0001c0004t0128g0162 a0001c0002t0037g0159 a0001c0004t0128g0162	2	166	0.0120	34	c.653 others(53): Show c.653-12878_653-12877insACACACACACACACACACACACACAC ACACACAC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INTS4_chr11_77873720_77999668	77920178	C C	CATATACA others(27): Show CATATACACATATATACACATATATACACACATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	360	0.0028	34	c.176 others(53): Show c.1764+1161_1764+1162insATATGTGTGTATATATGTGTATATAT GTGTATAT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS4_chr11_77873720_77999668	77920206	C C	CACACATA others(27): Show CACACATATATATACACATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19240.hp1 HG02895.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0266 a0001c0001t0002g0097 a0001c0001t0001g0266 a0001c0001t0002g0097	2	224	0.0089	34	c.176 others(53): Show c.1764+1133_1764+1134insATATATATGTGTATATATGTGTATAT ATATGTGT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS4_chr11_77873720_77999668	77920232	C C	CACATATA others(27): Show CACATATATATACACATATACATACATATATACAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03654.hp1 HG01070.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0092 a0001c0002t0001g0093	2	335	0.0060	34	c.176 others(53): Show c.1764+1107_1764+1108insATGTATATATGTATGTATATGTGTAT ATATATGT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS6_chr13_51356577_51458036	51429785	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA19081.hp1 HG01361.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0130 a0001c0001t0009g0009 a0001c0001t0009g0130	2	280	0.0071	34	c.429 others(49): Show c.429+508_429+509insATATATATATATATATATATATTTTTTTTT TTTT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0154 a0001c0001t0017g0154	1	137	0.0073	34	c.144 others(53): Show c.1449+4114_1449+4115insATATATATATATATATATATATATAT ATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02027.hp2 HG02258.hp1 others(3): Show HG01891.hp1 HG02027.hp2 HG02258.hp1 HG04199.hp2 HG04204.hp2 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0005 a0001c0001 a0001c0016 a0003c0005	a0001c0001t0002 a0001c0001t0009 a0001c0001t0062 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0062 a0001c0016t0008 a0003c0005t0008	a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0009g0104 others(3): Show a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0009g0104 a0001c0001t0062g0096 a0001c0016t0008g0084 a0003c0005t0008g0085	6	142	0.0423	34	c.144 others(53): Show c.1449+4096_1449+4097insGTATATATATATATATATATATATAT ATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IP6K1_chr3_49719294_49791542	49731887	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0074 a0001c0001t0013g0074	1	46	0.0217	34	c.616 others(49): Show c.616+903_616+904insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	4/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49780309	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG01928.hp2 others(5): Show HG01109.hp1 HG01496.hp2 HG01928.hp2 HG01952.hp2 HG02132.hp1 HG02451.hp2 NA18952.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(5): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0005g0145	8	17	0.4706	34	c.-12 others(53): Show c.-129+6044_-129+6045insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	1/5			chr3	TogoVar
IPMK_chr10_58186517_58272894	58211901	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0209 a0002c0002t0002g0209	1	138	0.0072	34	c.546 others(51): Show c.546+4243_546+4244insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	4/5			chr10	TogoVar
IPO5_chr13_97948675_98029296	98010780	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	96	0.0104	34	c.205 others(51): Show c.2055+574_2055+575insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	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(27): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	25	0.0400	34	c.85- others(49): Show c.85-5948_85-5947insAAAAAAAAAAAAAAAAAAAATATATATATA TATA	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(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0202 a0001c0001t0005g0202	1	25	0.0400	34	c.85- others(49): Show c.85-5948_85-5947insAAAAAAAAAAAAAAAAAATATATATATATA TATA	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(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	25	0.0400	34	c.85- others(49): Show c.85-5948_85-5947insAAAAAAAAAAAAAATATATATATATATATA TATA	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(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp2 NA19240.hp2 NA18960.hp1 NA18960.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0051 a0001c0001t0002g0205 a0001c0001t0005g0211 a0001c0001t0001g0051 a0001c0001t0002g0205 a0001c0001t0005g0211	3	27	0.1111	34	c.85- others(49): Show c.85-5948_85-5947insAAAAAAAAAAAATATATATATATATATATA TATA	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(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0282 a0001c0001t0004g0282	1	25	0.0400	34	c.85- others(49): Show c.85-5948_85-5947insAAAAAAAATATATATATATATATATATATA TATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19056.hp2 HG00140.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0003g0171 a0001c0001t0001g0059 a0001c0001t0003g0171	2	26	0.0769	34	c.85- others(49): Show c.85-5948_85-5947insAAAATATATATATATATATATATATATATA TATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436842	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	258	0.0039	34	c.226 others(51): Show c.2268+503_2268+504insATATATATATATATATATATATATATAT ATATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO9_chr1_201824157_201889291	201859180	A A	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01978.hp2 HG00140.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0196 a0001c0001t0002g0197	2	11	0.1818	34	c.146 others(51): Show c.1468+189_1468+190insAATATATATATATATATATATATATATA TATATA	IPO9	ENSG00000198700.10	transcript	ENST00000361565.9	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
IQANK1_chr8_143729139_143795645	143748656	A A	AATCATAT others(27): Show AATCATATATAAATATATAAATATATATCATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp2 NA18947.hp1 HG00544.hp2 HG01243.hp2 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0122 a0001c0001t0001g0126 a0002c0002t0001g0279 a0001c0001t0001g0122 a0001c0001t0001g0126 a0002c0002t0001g0279	3	289	0.0104	34	c.175 others(51): Show c.175+8776_175+8809dupTATCATATATAAATATATAAATATATAT CATATA	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(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0063 a0006c0006t0001g0063	1	5	0.2000	34	c.175 others(53): Show c.175+11717_175+11718insGTATATATATATATATATATATATAT ATATATAT	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(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01109.hp1 others(2): Show HG00099.hp1 HG00609.hp1 HG01109.hp1 HG01516.hp1 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0017 others(1): Show a0001c0001 a0001c0004 a0001c0017 a0003c0003	a0001c0001t0001 a0001c0004t0002 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0004t0002 a0001c0017t0001 a0003c0003t0003	a0001c0001t0001g0104 a0001c0001t0001g0182 a0001c0004t0002g0084 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0182 a0001c0004t0002g0084 a0001c0017t0001g0144 a0003c0003t0003g0008	5	124	0.0403	34	c.187 others(53): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236357861	C C	CTATATAA others(27): Show CTATATAAATATACATATACTATATATATTTATAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0109 a0001c0005t0002g0109	1	185	0.0054	34	c.186 others(53): Show c.1869+5918_1869+5919insTTATAAATATATATAGTATATGTATA TTTATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236459589	G G	GTATATAC others(27): Show GTATATACGTATATACGTATATACGTATATACGTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	194	0.0052	34	c.926 others(51): Show c.926+5915_926+5916insTACGTATATACGTATATACGTATATACG TATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236459595	G G	GTATATAC others(27): Show GTATATACGTATATACGTATATACGTATATATGTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0024 a0002c0002t0008g0024	1	188	0.0053	34	c.926 others(51): Show c.926+5909_926+5910insTACATATATACGTATATACGTATATACG TATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCF2_chr3_51856615_51868424	51861972	T T	TAAGAGAA others(27): Show TAAGAGAAATCCAGAACATTTATAACTACATCATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	424	0.0024	34	c.111 others(47): Show c.111+24_111+57dupAGAGAAATCCAGAACATTTATAACTACATCAT AA	IQCF2	ENSG00000184345.5	transcript	ENST00000333127.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159200030	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	149	0.0067	34	c.10- others(51): Show c.10-45795_10-45794insTATATATATATATATATATATATATATA TATATA	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(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG02683.hp2 others(6): Show HG02258.hp1 HG02630.hp1 HG02683.hp2 HG03139.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19080.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0001g0199 a0001c0001t0001g0200 others(6): Show a0001c0001t0001g0069 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0144 a0001c0001t0002g0164 a0001c0001t0002g0247	9	134	0.0672	34	c.10- others(51): Show c.10-45723_10-45722insATATATATATATATATATATATATATAT ATATAT	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	161	0.0062	34	c.690 others(51): Show c.690+9500_690+9501insAAAATATATATATATATATATATATATA TATATA	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(27): Show GTATATATATGTGTATATATATACACGTGTATATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	125	0.0080	34	c.139 others(55): Show c.1391-16927_1391-16926insTATATACACGTGTATATATATACA CATATATATA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149626392	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG03225.hp1 others(3): Show HG02486.hp1 HG02622.hp1 HG03225.hp1 HG03491.hp1 NA19002.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0082 a0001c0001t0001g0124 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0082 a0001c0001t0001g0124 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0231	6	105	0.0571	34	c.566 others(51): Show c.566-5149_566-5148insATATATATATATATATATATATATATAT ATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	7/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149770079	A A	ATAAACTG others(27): Show ATAAACTGCTAGCCAGACTCATGGAGAAAAACTGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	250	0.0040	34	c.-48 others(53): Show c.-48-27374_-48-27341dupCCAGTTTTTCTCCATGAGTCTGGCTA GCAGTTTA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	2/13			chr4	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0105 a0003c0004t0001g0105	1	57	0.0175	34	c.209 others(53): Show c.2094+3214_2094+3215insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRAG1_chr11_10568095_10698755	10622876	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19076.hp1 HG01433.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0018 a0001c0002t0002 a0001c0002t0018	a0001c0002t0002g0168 a0001c0002t0018g0009 a0001c0002t0002g0168 a0001c0002t0018g0009	2	118	0.0169	34	c.144 others(51): Show c.1447+901_1447+902insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	10/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680534	A A	AGGAAGAA others(27): Show AGGAAGAAAGGAAGAAAGGAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0010 a0006c0010t0010	a0006c0010t0010g0223 a0006c0010t0010g0223	1	257	0.0039	34	c.67+ others(51): Show c.67+13001_67+13002insCCTTCCTTCCTTTCTTCCTTTCTTCCTT TCTTCC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG01256.hp1 others(1): Show HG00099.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0005 a0003c0003t0002 a0003c0003t0005	a0003c0003t0002g0079 a0003c0003t0002g0184 a0003c0003t0002g0201 others(1): Show a0003c0003t0002g0079 a0003c0003t0002g0184 a0003c0003t0002g0201 a0003c0003t0005g0036	4	5	0.8000	34	c.76 others(43): Show c.765_*766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar
IRAK1BP1_chr6_78862551_78908102	78866973	A A	ATATATAT others(27): Show ATATATATTAGAATATATTATATATTAGAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19065.hp2 NA19091.hp2 NA19003.hp2 NA19065.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0040 a0002c0003t0104 a0002c0003t0040 a0002c0003t0104	a0002c0003t0040g0064 a0002c0003t0040g0066 a0002c0003t0104g0065 a0002c0003t0040g0064 a0002c0003t0040g0066 a0002c0003t0104g0065	3	344	0.0087	34	c.-60 others(43): Show c.-604_-603insTATATATTAGAATATATTATATATTAGAATATAT	IRAK1BP1	ENSG00000146243.14	transcript	ENST00000369940.7	protein_coding		577		chr6	TogoVar
IRAK3_chr12_66184214_66259622	66215788	A A	AAGTGCAC others(27): Show AAGTGCACGTGCGCGCGCGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02647.hp1 others(1): Show HG01884.hp1 HG02622.hp2 HG02647.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0056 a0002c0002t0010 a0002c0002t0056	a0002c0002t0010g0002 a0002c0002t0010g0018 a0002c0002t0056g0328 a0002c0002t0010g0002 a0002c0002t0010g0018 a0002c0002t0056g0328	4	182	0.0220	34	c.589 others(51): Show c.589-1383_589-1382insAGTGCACGTGCGCGCGCGCGCGCGCGCG CGCGCG	IRAK3	ENSG00000090376.11	transcript	ENST00000261233.9	protein_coding	5/11			chr12	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(27): Show GCATGTGTGCGCGTGCGCGCGCGCACGCGCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0355 a0001c0002t0005g0355	1	261	0.0038	34	c.-39 others(45): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCACGCGCACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(27): Show TACACACACACACATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18522.hp2 NA18747.hp1 others(3): Show HG02683.hp1 NA18522.hp2 NA18747.hp1 NA18980.hp1 NA19030.hp2 NA19043.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0004 a0002c0001t0009 a0002c0001t0002 a0002c0001t0004 a0002c0001t0009	a0002c0001t0002g0121 a0002c0001t0002g0128 a0002c0001t0002g0145 others(3): Show a0002c0001t0002g0121 a0002c0001t0002g0128 a0002c0001t0002g0145 a0002c0001t0002g0153 a0002c0001t0004g0117 a0002c0001t0009g0119	6	157	0.0382	34	c.109 others(51): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTGTATATGTGTGT GTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(27): Show TACACACACACACATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0150 a0002c0001t0002g0150	1	152	0.0066	34	c.109 others(51): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTATATATGTGTGT GTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRS1_chr2_226726312_226804820	226728076	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00741.hp2 others(17): Show HG00140.hp1 HG00280.hp1 HG00741.hp2 HG01255.hp1 HG02257.hp1 HG02258.hp1 HG02602.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp1 HG02970.hp2 HG03654.hp2 NA18940.hp2 NA18967.hp1 NA18967.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19030.hp2 NA19056.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0002c0004 a0002c0012 a0007c0017	a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 others(9): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 a0001c0001t0051 a0001c0001t0071 a0001c0003t0004 a0001c0005t0009 a0001c0005t0039 a0001c0009t0003 a0002c0004t0003 a0002c0012t0003 a0007c0017t0009	a0001c0001t0003g0158 a0001c0001t0003g0190 a0001c0001t0003g0196 others(17): Show a0001c0001t0003g0158 a0001c0001t0003g0190 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0007g0115 a0001c0001t0021g0183 a0001c0001t0021g0185 a0001c0001t0051g0145 a0001c0001t0071g0265 a0001c0003t0004g0013 a0001c0003t0004g0031 a0001c0003t0004g0034 a0001c0005t0009g0060 a0001c0005t0039g0054 a0001c0009t0003g0095 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0012t0003g0081 a0007c0017t0009g0075	20	21	0.9524	34	c.81 others(45): Show c.8195_*8196insACACACACACACACACACACACACACACACACAC	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding		3235		chr2	TogoVar
IRX6_chr16_55319203_55335756	55325530	G G	GGAAGGAA others(27): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	112	0.0089	34	c.45+ others(47): Show c.45+396_45+397insAGGAAGGAAGGAAGGAAGGAAGGAAGGAGAGA GA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar

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