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
IQGAP1_chr15_90383242_90507239	90496306	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0297 a0001c0002t0004g0297	1	60	0.0167	27	c.475 others(44): Show c.4752-923_4752-897dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76496725	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0003 a0019c0024t0003	a0019c0024t0003g0198 a0019c0024t0003g0198	1	125	0.0080	27	c.146 others(46): Show c.146+35058_146+35059insCTTTCTTTCTTTCTTTCTTTCTTTCT T	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76610050	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0106 a0002c0001t0001g0106	1	147	0.0068	27	c.135 others(44): Show c.1358-970_1358-969insCTCTCTCTCTCTCTCTCTCTCTCTCTC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	12/35			chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0007 a0001c0003t0008g0007	1	57	0.0175	27	c.209 others(46): Show c.2094+3214_2094+3215insTTTTTTTTTTTTTTTTTTTTTTTTTT T	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	2	0.5000	27	c.76 others(36): Show c.765_*766insAAAAAAAAAAAAAAAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar
IRF1_chr5_132476609_132495773	132485849	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02723.hp2 HG01496.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0034 a0001c0002t0010 a0001c0002t0034	a0001c0002t0010g0090 a0001c0002t0034g0040 a0001c0002t0010g0090 a0001c0002t0034g0040	2	265	0.0075	27	c.668 others(42): Show c.668-134_668-133insGTGTGTGTGTGTGTGTGTGTGTGTGTG	IRF1	ENSG00000125347.15	transcript	ENST00000245414.9	protein_coding	7/9			chr5	TogoVar
IRF3_chr19_49654572_49670857	49660028	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0004 a0002c0001t0002 a0002c0001t0004	a0002c0001t0002g0020 a0002c0001t0004g0018 a0002c0001t0002g0020 a0002c0001t0004g0018	3	265	0.0113	27	c.109 others(44): Show c.1099-196_1099-195insTGTGTGTGTGTGTGTGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF6_chr1_209780617_209811142	209806757	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01192.hp1 HG01496.hp1 others(17): Show HG01071.hp1 HG01192.hp1 HG01496.hp1 HG02004.hp2 HG02055.hp1 HG02129.hp1 HG02970.hp1 HG03225.hp2 HG03490.hp1 HG03669.hp2 HG03927.hp1 NA18747.hp2 NA18950.hp1 NA18964.hp1 NA18973.hp2 NA18994.hp1 NA19010.hp2 NA19070.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0029 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0091	20	93	0.2151	27	c.-88 others(36): Show c.-887_-886insAAAAAAAAAAAAAAAAAAAAAAAAAAA	IRF6	ENSG00000117595.13	transcript	ENST00000367021.8	protein_coding		616		chr1	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA19011.hp2 NA19060.hp1 HG02896.hp2 NA19011.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0069 a0001c0001t0001 a0001c0001t0014 a0001c0002t0069	a0001c0001t0001g0188 a0001c0001t0014g0080 a0001c0002t0069g0240 a0001c0001t0001g0188 a0001c0001t0014g0080 a0001c0002t0069g0240	3	29	0.1034	27	c.21 others(46): Show c.21+28825_*21+28826insAAAAAAAAAAAAATATATATATATAT A	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0138 a0001c0001t0011g0138	1	27	0.0370	27	c.21 others(46): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAATATATATATAT A	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0185 a0001c0001t0021g0185	1	27	0.0370	27	c.21 others(46): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAAAATATATATAT A	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
ISG15_chr1_1008497_1019540	1019393	C C	CGGCCCAG others(20): Show CGGCCCAGAGCTGGGAAGGGGCGTGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	380	0.0026	27	c.49 others(38): Show c.4915_*4916insGGCCCAGAGCTGGGAAGGGGCGTGGCG	ISG15	ENSG00000187608.10	transcript	ENST00000649529.1	protein_coding		4854		chr1	TogoVar
ISM1_chr20_13216274_13305651	13221212	C C	CCCTCCTC others(20): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0065 a0001c0001t0013g0065	1	372	0.0027	27	c.-56 others(36): Show c.-565_-564insCCTCCTCCTCCTCCTCCTCCTCCTCCT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding		61		chr20	TogoVar
ISOC1_chr5_129089749_129119028	129101192	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0086 a0001c0003t0005g0086	1	103	0.0097	27	c.310 others(44): Show c.310-3764_310-3763insTATATATATATATATATATATATATAT	ISOC1	ENSG00000066583.12	transcript	ENST00000173527.6	protein_coding	1/4			chr5	TogoVar
ITGA11_chr15_68291532_68437163	68400707	A A	AAATATTA others(20): Show AAATATTATATTATATAATAAATATTAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0038	a0001c0003t0038g0165 a0001c0003t0038g0165	1	141	0.0071	27	c.164 others(44): Show c.164+2210_164+2211insATAATATTTATTATATAATATAATATT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA1_chr5_52782916_52964209	52872575	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0047 a0002c0007t0002g0047	1	116	0.0086	27	c.624 others(44): Show c.624+6776_624+6777insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52902583	C C	CTTTATTT others(20): Show CTTTATTTGAGACAGAGTTTCTCTCTTA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0283 a0003c0008t0008g0283	1	320	0.0031	27	c.131 others(46): Show c.1310-3177_1310-3151dupTATTTGAGACAGAGTTTCTCTCTTAT T	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52911472	A A	ATAGATAC others(20): Show ATAGATACACTATATATAGTATATATAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0147 a0002c0009t0002g0147	1	320	0.0031	27	c.185 others(46): Show c.1857+1080_1857+1106dupGTAGATACACTATATATAGTATATAT A	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52911541	C C	CATATACT others(20): Show CATATACTATATATAGTGTATCTACTAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18985.hp1 NA18995.hp2 HG03491.hp1 NA18985.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0068 a0001c0004t0007 a0001c0001t0068 a0001c0004t0007	a0001c0001t0068g0063 a0001c0004t0007g0107 a0001c0004t0007g0196 a0001c0001t0068g0063 a0001c0004t0007g0107 a0001c0004t0007g0196	3	317	0.0095	27	c.185 others(46): Show c.1857+1137_1857+1163dupGTGTATCTACTATATATACTATATAT A	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52911579	T T	TATAGTGT others(20): Show TATAGTGTATCTACTATATATACTATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0129 a0001c0001t0084g0129	1	303	0.0033	27	c.185 others(46): Show c.1857+1163_1857+1164insGTGTATCTACTATATATACTATACAT A	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52911605	A A	ATATATAT others(20): Show ATATATATAGTGTATCTACTATATATAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	314	0.0032	27	c.185 others(46): Show c.1857+1218_1857+1244dupTATAGTGTATCTACTATATATACTAT A	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52911661	A A	ATATATAT others(20): Show ATATATATAGTGTATCTACTATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0015 a0001c0001t0067g0015	1	283	0.0035	27	c.185 others(46): Show c.1857+1244_1857+1245insTATATAGTGTATCTACTATATATACT A	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52912483	T T	TGTATTAT others(20): Show TGTATTATATATAGTGTATCCACTATAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00621.hp1 others(60): Show HG00280.hp2 HG00408.hp1 HG00621.hp1 HG00639.hp2 HG01069.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02723.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp2 HG03710.hp1 HG04184.hp1 NA18612.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18956.hp2 NA18957.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19085.hp1 NA19090.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006 a0002c0010 a0002c0013 a0003c0005 a0003c0008 a0003c0011 a0003c0014 a0004c0024 a0010c0027	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(38): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0031 a0001c0001t0037 a0001c0001t0050 a0001c0001t0056 a0001c0001t0061 a0001c0002t0001 a0001c0002t0028 a0001c0004t0005 a0001c0004t0020 a0001c0004t0021 a0001c0004t0031 a0001c0004t0079 a0002c0006t0002 a0002c0010t0002 a0002c0013t0044 a0003c0005t0001 a0003c0005t0003 a0003c0005t0004 a0003c0005t0008 a0003c0005t0010 a0003c0005t0021 a0003c0005t0024 a0003c0005t0042 a0003c0005t0081 a0003c0008t0003 a0003c0008t0004 a0003c0008t0008 a0003c0008t0009 a0003c0008t0012 a0003c0008t0085 a0003c0011t0008 a0003c0011t0009 a0003c0014t0003 a0004c0024t0002 a0010c0027t0003	a0001c0001t0003g0105 a0001c0001t0007g0041 a0001c0001t0008g0257 others(60): Show a0001c0001t0003g0105 a0001c0001t0007g0041 a0001c0001t0008g0257 a0001c0001t0016g0017 a0001c0001t0017g0082 a0001c0001t0017g0167 a0001c0001t0017g0169 a0001c0001t0028g0277 a0001c0001t0031g0060 a0001c0001t0037g0175 a0001c0001t0050g0273 a0001c0001t0056g0261 a0001c0001t0061g0178 a0001c0002t0001g0143 a0001c0002t0028g0289 a0001c0004t0005g0185 a0001c0004t0005g0186 a0001c0004t0020g0278 a0001c0004t0021g0256 a0001c0004t0031g0202 a0001c0004t0079g0094 a0002c0006t0002g0040 a0002c0006t0002g0045 a0002c0010t0002g0125 a0002c0013t0044g0284 a0003c0005t0001g0145 a0003c0005t0001g0194 a0003c0005t0001g0220 a0003c0005t0003g0079 a0003c0005t0003g0109 a0003c0005t0003g0149 a0003c0005t0003g0162 a0003c0005t0003g0166 a0003c0005t0003g0192 a0003c0005t0003g0203 a0003c0005t0003g0219 a0003c0005t0003g0229 a0003c0005t0003g0241 a0003c0005t0004g0115 a0003c0005t0004g0231 a0003c0005t0008g0263 a0003c0005t0010g0120 a0003c0005t0021g0258 a0003c0005t0024g0182 a0003c0005t0042g0244 a0003c0005t0081g0146 a0003c0008t0003g0077 a0003c0008t0003g0216 a0003c0008t0004g0124 a0003c0008t0008g0283 a0003c0008t0008g0310 a0003c0008t0009g0311 a0003c0008t0012g0295 a0003c0008t0085g0108 a0003c0011t0008g0296 a0003c0011t0008g0297 a0003c0011t0008g0305 a0003c0011t0009g0260 a0003c0011t0009g0268 a0003c0014t0003g0138 a0003c0014t0003g0198 a0004c0024t0002g0103 a0010c0027t0003g0130	63	111	0.5676	27	c.185 others(46): Show c.1857+2172_1857+2198dupGGTATTATATATAGTGTATCCACTAT A	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52912510	G G	GGTATTAT others(20): Show GGTATTATATATAGTGTATCCAGTATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0015 a0001c0001t0067g0015	1	320	0.0031	27	c.185 others(46): Show c.1857+2112_1857+2113insGTATATGTATTATATATAGTGTATCC A	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA2B_chr17_44367181_44394649	44368146	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA20805.hp1 NA19081.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0018	2	269	0.0074	27	c.42 others(38): Show c.4217_*4218insATATATATATATATATATATATATATA	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4034		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368146	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	268	0.0037	27	c.42 others(38): Show c.4217_*4218insAAATATATATATATATATATATATATA	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4034		chr17	TogoVar
ITGA3_chr17_50051110_50095481	50085958	T T	TTAGATTA others(20): Show TTAGATTATGTATATTATAGATTTATAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	400	0.0025	27	c.292 others(46): Show c.2920-1778_2920-1777insGTATATTATAGATTTATAATAGATTA T	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA6_chr2_172422586_172511459	172503600	A A	ATGAAGAG others(20): Show ATGAAGAGGGGGAGGAGAAGAAGATTAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0176 a0001c0003t0002g0176	1	350	0.0029	27	c.323 others(44): Show c.3232-490_3232-489insGAAGAGGGGGAGGAGAAGAAGATTACT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAM_chr16_31254975_31337877	31258303	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0148 a0001c0005t0004g0148	1	78	0.0128	27	c.-17 others(38): Show c.-1762_-1761insTATATATATATATATATTTTTTTTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1671		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31258303	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0160 a0001c0005t0004g0160	1	78	0.0128	27	c.-17 others(38): Show c.-1762_-1761insTATATATATATATATTTTTTTTTTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1671		chr16	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	30	0.0333	27	c.243 others(44): Show c.2433+441_2433+442insATATATATATATATATATATATTTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(20): Show TCCCTCTCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03491.hp1 HG03492.hp2 others(2): Show HG02257.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0275 others(2): Show a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0323 a0001c0001t0001g0324	5	162	0.0309	27	c.254 others(44): Show c.254+6320_254+6321insGAGAGGGGAGAGGGGAGAGGGAGAGGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITGB3_chr17_47248827_47318743	47308160	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	132	0.0076	27	c.230 others(44): Show c.2301+526_2301+552dupTAATAATAATAATAATAATAATAATAA	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01978.hp1 HG02970.hp1 others(4): Show HG01884.hp2 HG01978.hp1 HG02970.hp1 NA18941.hp1 NA18954.hp2 NA18993.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0002c0004t0001 a0002c0007t0001	a0001c0001t0001g0057 a0001c0003t0001g0168 a0001c0003t0001g0201 others(4): Show a0001c0001t0001g0057 a0001c0003t0001g0168 a0001c0003t0001g0201 a0001c0006t0001g0220 a0002c0004t0001g0304 a0002c0007t0001g0075 a0002c0007t0001g0294	7	9	0.7778	27	c.101 others(46): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAAAA A	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737840	T T	TATAATAT others(20): Show TATAATATTCTATATTATATTCTATATA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	327	0.0031	27	c.195 others(44): Show c.1958-778_1958-777insATATTCTATATTATATTCTATATAATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738176	T T	TAAAATAT others(20): Show TAAAATATTATATATTATATTCTATAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01952.hp2 HG06807.hp1 others(7): Show HG00741.hp2 HG01952.hp2 HG06807.hp1 NA18941.hp1 NA18992.hp2 NA19004.hp1 NA19056.hp1 NA19058.hp1 NA19070.hp2 NA19091.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0012 a0001c0001 a0012c0012	a0001c0001t0001 a0012c0012t0001 a0001c0001t0001 a0012c0012t0001	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 others(7): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0152 a0012c0012t0001g0082	10	145	0.0690	27	c.195 others(44): Show c.1958-444_1958-443insAAATATTATATATTATATTCTATAAAA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITK_chr5_157175840_157260185	157233963	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19062.hp2 HG02717.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0181 a0001c0001t0001g0004 a0001c0001t0002g0181	2	274	0.0073	27	c.768 others(44): Show c.768+1570_768+1571insATATATATATATATATATATATATATT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITLN2_chr1_160940025_160959809	160942871	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA19030.hp1 HG02630.hp1 NA19030.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0027 a0005c0004t0001g0027	2	189	0.0106	27	c.22 others(38): Show c.2268_*2269insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		2153		chr1	TogoVar
ITM2A_chrX_79355384_79372334	79372004	T T	TTTGTGGT others(20): Show TTTGTGGTTCAACATAATTGAACCACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00621.hp1 others(46): Show HG00099.hp1 HG00099.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp2 HG01993.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 NA18979.hp2 NA18999.hp2 NA19000.hp1 NA19070.hp1 NA19079.hp1 NA19080.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0003g0003 others(6): Show a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0005g0005 a0001c0001t0006g0009 a0001c0001t0013g0029 a0002c0002t0003g0016	49	331	0.1480	27	c.-47 others(38): Show c.-4790_-4789insTTGTGGTTCAATTATGTTGAACCACAA	ITM2A	ENSG00000078596.11	transcript	ENST00000373298.7	protein_coding		4671		chrX	TogoVar
ITPR2_chr12_26330352_26838194	26605120	A A	ATAAAAAA others(20): Show ATAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0010 a0001c0024t0010	a0001c0024t0010g0126 a0001c0024t0010g0126	1	128	0.0078	27	c.346 others(46): Show c.3463-2415_3463-2414insATATATATATATATATTTTTTTTTTT A	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	26/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26772488	A A	ATAATGTA others(20): Show ATAATGTATTATATATATAATACATTAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0007 a0001c0013t0002g0007	1	119	0.0084	27	c.163 others(46): Show c.163+17668_163+17669insATAATGTATTATATATATAATACATT A	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
IVNS1ABP_chr1_185291388_185322243	185292366	C C	CTTTTTCC others(20): Show CTTTTTCCCTCTCCCTTCTTTGTTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02071.hp1 HG02074.hp1 others(16): Show HG00438.hp1 HG02071.hp1 HG02074.hp1 HG03654.hp2 NA18949.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18981.hp2 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19072.hp2 NA19074.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0005 a0001c0001t0003g0043 a0001c0001t0003g0102 others(2): Show a0001c0001t0003g0005 a0001c0001t0003g0043 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0010g0103	19	330	0.0576	27	c.56 others(38): Show c.5668_*5669insAAGCAACAAAGAAGGGAGAGGGAAAAA	IVNS1ABP	ENSG00000116679.16	transcript	ENST00000367498.8	protein_coding		4021		chr1	TogoVar
JAG2_chr14_105135995_105173776	105171830	G G	GGTCAGTC others(20): Show GGTCAGTCTCCACCTCCCTGCCCAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0070 a0003c0003t0002g0070	1	362	0.0028	27	c.-34 others(38): Show c.-3411_-3410insACCCTGGGCAGGGAGGTGGAGACTGAC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding		3055		chr14	TogoVar
JAK1_chr1_64828229_64971549	64913641	G G	GAGGAAGG others(20): Show GAGGAAGGAAGGAAGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	232	0.0043	27	c.-77 others(46): Show c.-77-27301_-77-27300insTCCTTCCTTCCTTCTTCCTTCCTTCC T	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03225.hp2 HG03453.hp2 HG02615.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0006 a0001c0003t0016 a0001c0004t0004 a0001c0003t0006 a0001c0003t0016 a0001c0004t0004	a0001c0003t0006g0054 a0001c0003t0016g0208 a0001c0004t0004g0041 a0001c0003t0006g0054 a0001c0003t0016g0208 a0001c0004t0004g0041	3	218	0.0138	27	c.46 others(38): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		1488		chr9	TogoVar
JAKMIP2_chr5_147580438_147787728	147619378	T T	TACCCATT others(20): Show TACCCATTCTCTTCTTTCCCCATCAAAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp2 HG01934.hp1 others(31): Show HG01496.hp1 HG01496.hp2 HG01934.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp1 HG03195.hp1 HG03453.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0004c0014	a0001c0001t0001 a0001c0002t0005 a0001c0002t0008 others(14): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0024 a0001c0002t0033 a0001c0002t0035 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0082 a0001c0002t0083 a0001c0002t0085 a0001c0002t0086 a0001c0010t0064 a0001c0010t0065 a0004c0014t0008	a0001c0001t0001g0105 a0001c0002t0005g0204 a0001c0002t0005g0212 others(31): Show a0001c0001t0001g0105 a0001c0002t0005g0204 a0001c0002t0005g0212 a0001c0002t0005g0213 a0001c0002t0005g0214 a0001c0002t0005g0215 a0001c0002t0005g0220 a0001c0002t0005g0228 a0001c0002t0005g0229 a0001c0002t0005g0235 a0001c0002t0008g0202 a0001c0002t0008g0209 a0001c0002t0008g0210 a0001c0002t0008g0217 a0001c0002t0008g0242 a0001c0002t0011g0087 a0001c0002t0011g0096 a0001c0002t0011g0099 a0001c0002t0011g0100 a0001c0002t0011g0101 a0001c0002t0024g0023 a0001c0002t0024g0043 a0001c0002t0033g0088 a0001c0002t0035g0071 a0001c0002t0058g0090 a0001c0002t0059g0149 a0001c0002t0060g0125 a0001c0002t0082g0211 a0001c0002t0083g0244 a0001c0002t0085g0216 a0001c0002t0086g0227 a0001c0010t0064g0003 a0001c0010t0065g0083 a0004c0014t0008g0201	34	248	0.1371	27	c.214 others(46): Show c.2142+1261_2143-1265dupGTTTGATGGGGAAAGAAGAGAATGGG T	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	18/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02056.hp1 NA18944.hp2 others(2): Show HG00408.hp2 HG02056.hp1 NA18944.hp2 NA18959.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0039 a0001c0002t0005 a0001c0003t0073 others(1): Show a0001c0001t0039 a0001c0002t0005 a0001c0003t0073 a0001c0004t0006	a0001c0001t0039g0048 a0001c0002t0005g0214 a0001c0002t0005g0220 others(2): Show a0001c0001t0039g0048 a0001c0002t0005g0214 a0001c0002t0005g0220 a0001c0003t0073g0219 a0001c0004t0006g0106	5	113	0.0442	27	c.-14 others(48): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT ATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0208 a0001c0001t0077g0208	1	109	0.0092	27	c.-14 others(48): Show c.-149+40300_-149+40301insAAAAAAAAATATATATATATATAT ATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132158940	G G	GTGGGAGG others(20): Show GTGGGAGGGGCATCTTCCTTTGTGATGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0015 a0003c0018t0003g0015	1	134	0.0075	27	c.222 others(46): Show c.2221-4269_2221-4268insTGGGAGGGGCATCTTCCTTTGTGATG C	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159641	G G	GGGGGGTC others(20): Show GGGGGGTCCTCTCCCTATGTGATGCTCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01256.hp1 HG01258.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0007 a0005c0012t0031 a0005c0012t0007 a0005c0012t0031	a0005c0012t0007g0045 a0005c0012t0007g0048 a0005c0012t0031g0044 a0005c0012t0007g0045 a0005c0012t0007g0048 a0005c0012t0031g0044	3	154	0.0195	27	c.222 others(46): Show c.2221-3563_2221-3562insTCCTCTCCCTATGTGATGCTCAGGGG G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar

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