Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
IQCH_chr15_67249786_67506804	67489519	G G	GGGTGATG others(18): Show GGGTGATGTCAGGAGTTCAAGATCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	54	0.0185	25	c.280 others(42): Show c.2800-482_2800-481insTGATGTCAGGAGTTCAAGATCTTGG	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQCK_chr16_19713271_19863467	19861087	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	48	0.0208	25	c.45 others(36): Show c.4539_*4540insAAAAAAAAAAAAAAAAAAAAAAAAA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding		2621		chr16	TogoVar
IQCM_chr4_149346709_149820843	149443663	A A	AGAAAGGA others(18): Show AGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp2 HG03130.hp2 others(2): Show HG02258.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0101 a0001c0001t0001g0122 a0001c0001t0001g0190 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0122 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0004t0001g0225	5	58	0.0862	25	c.122 others(46): Show c.1229-10131_1229-10107dupCTTTCCTTTCCTTTCCTTTCCTTT C	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149443751	A A	AAGGAAAG others(18): Show AAGGAAAGGAAAGGAAAGGAAAGGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0193 a0001c0004t0001g0193	1	250	0.0040	25	c.122 others(46): Show c.1229-10195_1229-10194insCTCCTTTCCTTTCCTTTCCTTTCC T	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149481696	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0181 a0001c0004t0001g0182	2	102	0.0196	25	c.122 others(46): Show c.1229-48140_1229-48139insAAAAAAAAAAAAAAAAAAAAAAAA A	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02280.hp1 HG00621.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0006 a0001c0002t0004 a0001c0002t0006	a0001c0002t0004g0219 a0001c0002t0006g0045 a0001c0002t0004g0219 a0001c0002t0006g0045	2	58	0.0345	25	c.209 others(44): Show c.2094+3214_2094+3215insTTTTTTTTTTTTTTTTTTTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQSEC2_chrX_53227876_53326350	53311121	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG03540.hp1 HG02615.hp1 HG02647.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0143 a0001c0002t0001g0011 a0001c0003t0001g0148 a0001c0001t0001g0143 a0001c0002t0001g0011 a0001c0003t0001g0148	3	33	0.0909	25	c.707 others(42): Show c.707+9295_707+9296insTTTTTTTTTTTTTTTTTTTTTTTTT	IQSEC2	ENSG00000124313.19	transcript	ENST00000642864.1	protein_coding	1/14			chrX	TogoVar
IRAG1_chr11_10568095_10698755	10680404	G G	GGAAGGAA others(18): Show GGAAGGAAGGAAAGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0004 a0008c0017t0004	a0008c0017t0004g0225 a0008c0017t0004g0225	1	21	0.0476	25	c.67+ others(42): Show c.67+13131_67+13132insTTTCCTTTCTTTCTTTCCTTCCTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680404	G G	GGAAGGAA others(18): Show GGAAGGAAGGAAGGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02647.hp1 HG03516.hp2 others(1): Show HG01106.hp2 HG02647.hp1 HG03516.hp2 NA19089.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0002c0013 a0002c0016 others(1): Show a0002c0003 a0002c0013 a0002c0016 a0011c0045	a0002c0003t0003 a0002c0013t0004 a0002c0016t0003 others(1): Show a0002c0003t0003 a0002c0013t0004 a0002c0016t0003 a0011c0045t0020	a0002c0003t0003g0013 a0002c0013t0004g0019 a0002c0016t0003g0033 others(1): Show a0002c0003t0003g0013 a0002c0013t0004g0019 a0002c0016t0003g0033 a0011c0045t0020g0270	4	24	0.1667	25	c.67+ others(42): Show c.67+13131_67+13132insTTTCCTTTCTTTCCTTCCTTCCTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG2_chr12_25047706_25113335	25106647	T T	TTTGTATA others(18): Show TTTGTATATACTTGGCTAATATTCTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02615.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0170 a0003c0003t0001g0062 a0003c0003t0001g0170	2	341	0.0059	25	c.114 others(42): Show c.1149-270_1149-246dupTTGTATATACTTGGCTAATATTCTA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02109.hp1 HG03453.hp2 HG00673.hp1 HG02109.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0148 a0002c0002t0001g0001 a0002c0002t0001g0027 a0001c0001t0001g0148 a0002c0002t0001g0001 a0002c0002t0001g0027	3	4	0.7500	25	c.76 others(34): Show c.765_*766insAAAAAAAAAAAAAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar
IRAK3_chr12_66184214_66259622	66214539	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0079 a0001c0001t0007g0081 a0001c0001t0005g0079 a0001c0001t0007g0081	2	178	0.0112	25	c.589 others(42): Show c.589-2626_589-2602dupAAAACAAAACAAAACAAAACAAAAC	IRAK3	ENSG00000090376.11	transcript	ENST00000261233.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRF1_chr5_132476609_132495773	132485849	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp2 HG01243.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0036 a0001c0002t0010 a0001c0002t0036	a0001c0002t0010g0089 a0001c0002t0036g0084 a0001c0002t0010g0089 a0001c0002t0036g0084	2	265	0.0075	25	c.668 others(40): Show c.668-134_668-133insGTGTGTGTGTGTGTGTGTGTGTGTG	IRF1	ENSG00000125347.15	transcript	ENST00000245414.9	protein_coding	7/9			chr5	TogoVar
IRF2BP2_chr1_234599269_234615178	234600217	C C	CCCGTCCC others(18): Show CCCGTCCCGTCCCGTCCCGTCCCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02717.hp2 HG02886.hp1 others(2): Show HG01884.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 a0001c0003 a0001c0004 a0001c0006	a0001c0003t0002 a0001c0004t0023 a0001c0004t0031 others(1): Show a0001c0003t0002 a0001c0004t0023 a0001c0004t0031 a0001c0006t0004	a0001c0003t0002g0003 a0001c0004t0023g0024 a0001c0004t0031g0037 others(1): Show a0001c0003t0002g0003 a0001c0004t0023g0024 a0001c0004t0031g0037 a0001c0006t0004g0005	5	395	0.0127	25	c.69 others(36): Show c.6919_*6920insAACGGGACGGGACGGGACGGGACGG	IRF2BP2	ENSG00000168264.11	transcript	ENST00000366609.4	protein_coding		4051		chr1	TogoVar
IRF3_chr19_49654572_49670857	49660027	A A	ACACACAC others(18): Show ACACACACACACCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0146 a0002c0001t0002g0146	1	388	0.0026	25	c.109 others(42): Show c.1099-195_1099-194insGGGGGGGGGGGGGGGTGTGTGTGTG	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF3_chr19_49654572_49670857	49660028	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0020 a0002c0001t0002g0020	1	263	0.0038	25	c.109 others(42): Show c.1099-196_1099-195insTGTGTGTGTGTGTGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF6_chr1_209780617_209811142	209806757	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02280.hp1 HG03471.hp1 others(2): Show HG01358.hp1 HG02280.hp1 HG03471.hp1 NA18939.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0012 a0001c0001t0001 a0001c0010t0012	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0010t0012g0051 a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0010t0012g0051	5	78	0.0641	25	c.-88 others(34): Show c.-887_-886insAAAAAAAAAAAAAAAAAAAAAAAAA	IRF6	ENSG00000117595.13	transcript	ENST00000367021.8	protein_coding		616		chr1	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(4): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG02132.hp1 HG02258.hp1 HG03453.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0004 a0001c0001 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0053 a0001c0008t0011 a0002c0004t0001	a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0003g0158 others(4): Show a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0003g0158 a0001c0001t0007g0115 a0001c0001t0053g0113 a0001c0008t0011g0093 a0002c0004t0001g0085	7	33	0.2121	25	c.21 others(44): Show c.21+28825_*21+28826insAAAAAAAAAAAAATATATATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18980.hp1 HG00741.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0051 a0001c0001t0001 a0001c0001t0051	a0001c0001t0001g0191 a0001c0001t0051g0145 a0001c0001t0001g0191 a0001c0001t0051g0145	2	28	0.0714	25	c.21 others(44): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAATATATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
ISM1_chr20_13216274_13305651	13268114	G G	GTCTTCTC others(18): Show GTCTTCTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(30): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG01167.hp2 HG01243.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02135.hp2 HG02523.hp1 HG02602.hp2 HG02723.hp2 HG02896.hp2 NA18939.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18994.hp1 NA19009.hp2 NA19066.hp1 NA19075.hp2 NA19077.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0003c0004t0001 a0006c0013t0004	a0001c0001t0001g0072 a0001c0001t0001g0118 a0001c0001t0001g0125 others(30): Show a0001c0001t0001g0072 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0237 a0001c0001t0001g0276 a0001c0001t0002g0112 a0001c0001t0002g0161 a0001c0001t0002g0201 a0001c0001t0002g0272 a0001c0001t0002g0301 a0001c0001t0002g0332 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0049 a0001c0001t0003g0368 a0001c0001t0005g0023 a0001c0001t0005g0032 a0001c0002t0001g0123 a0001c0002t0001g0200 a0001c0002t0001g0257 a0001c0002t0002g0089 a0001c0002t0002g0099 a0001c0002t0002g0139 a0001c0002t0002g0281 a0001c0002t0003g0027 a0001c0002t0003g0058 a0003c0004t0001g0339 a0006c0013t0004g0341	33	109	0.3028	25	c.139 others(42): Show c.139-2374_139-2350dupTCTTCTCTTCTCTTCTCTTCTCTTC	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ISM1_chr20_13216274_13305651	13273215	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG00741.hp1 others(68): Show HG00558.hp1 HG00642.hp2 HG00741.hp1 HG01099.hp2 HG01167.hp2 HG01192.hp1 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18964.hp1 NA18965.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA19001.hp2 NA19004.hp1 NA19043.hp2 NA19063.hp1 NA19074.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0038	a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0094 others(67): Show a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0278 a0001c0001t0001g0319 a0001c0001t0001g0328 a0001c0001t0001g0338 a0001c0001t0001g0361 a0001c0001t0001g0367 a0001c0001t0002g0165 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0249 a0001c0001t0002g0288 a0001c0001t0003g0024 a0001c0001t0003g0033 a0001c0001t0003g0046 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0004g0344 a0001c0001t0004g0359 a0001c0001t0005g0057 a0001c0001t0006g0133 a0001c0001t0006g0136 a0001c0001t0008g0002 a0001c0001t0008g0073 a0001c0001t0008g0075 a0001c0001t0008g0076 a0001c0001t0008g0079 a0001c0001t0009g0364 a0001c0001t0010g0140 a0001c0001t0010g0141 a0001c0001t0010g0143 a0001c0001t0011g0366 a0001c0001t0013g0065 a0001c0001t0020g0373 a0001c0001t0021g0342 a0001c0001t0026g0095 a0001c0001t0027g0093 a0001c0002t0001g0148 a0001c0002t0001g0284 a0001c0002t0004g0371 a0001c0002t0007g0109 a0001c0002t0038g0269	71	159	0.4465	25	c.378 others(42): Show c.378+2487_378+2511dupATTTTATTTTATTTTATTTTATTTT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITFG1_chr16_47149391_47466063	47376964	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	60	0.0167	25	c.656 others(42): Show c.656-1049_656-1025dupTTTTTTTTTTTTTTTTTTTTTTTTT	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITGA11_chr15_68291532_68437163	68397219	T T	TATATGTT others(18): Show TATATGTTATATATTATTATTATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0128 a0001c0005t0003g0128	1	207	0.0048	25	c.164 others(42): Show c.164+5698_164+5699insTATATAATAATAATATATAACATAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA1_chr5_52782916_52964209	52872575	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 NA19001.hp2 HG03490.hp1 HG03492.hp2 NA19001.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0022 a0002c0007t0002 a0001c0003t0022 a0002c0007t0002	a0001c0003t0022g0004 a0002c0007t0002g0099 a0001c0003t0022g0004 a0002c0007t0002g0099	3	118	0.0254	25	c.624 others(42): Show c.624+6776_624+6777insTTTTTTTTTTTTTTTTTTTTTTTTT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA2_chr5_52984352_53099779	53094196	A A	AATTATAT others(18): Show AATTATATAAACAACTTTGTAGGACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(140): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02145.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0009 a0014 a0015	a0001c0002 a0001c0014 a0001c0021 others(8): Show a0001c0002 a0001c0014 a0001c0021 a0001c0028 a0003c0005 a0004c0006 a0004c0020 a0007c0012 a0009c0026 a0014c0025 a0015c0027	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(25): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0002t0018 a0001c0002t0019 a0001c0002t0028 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0014t0003 a0001c0021t0050 a0001c0028t0004 a0003c0005t0003 a0003c0005t0027 a0003c0005t0045 a0004c0006t0003 a0004c0020t0003 a0007c0012t0003 a0009c0026t0003 a0014c0025t0003 a0015c0027t0006	a0001c0002t0003g0003 a0001c0002t0003g0032 a0001c0002t0003g0063 others(131): Show a0001c0002t0003g0003 a0001c0002t0003g0032 a0001c0002t0003g0063 a0001c0002t0003g0070 a0001c0002t0003g0107 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0112 a0001c0002t0003g0147 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0178 a0001c0002t0003g0180 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0205 a0001c0002t0003g0209 a0001c0002t0004g0004 a0001c0002t0004g0088 a0001c0002t0004g0097 a0001c0002t0004g0101 a0001c0002t0004g0105 a0001c0002t0004g0114 a0001c0002t0004g0115 a0001c0002t0004g0142 a0001c0002t0004g0228 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0234 a0001c0002t0004g0235 a0001c0002t0004g0239 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0245 a0001c0002t0004g0246 a0001c0002t0004g0249 a0001c0002t0004g0251 a0001c0002t0004g0252 a0001c0002t0004g0256 a0001c0002t0004g0257 a0001c0002t0004g0258 a0001c0002t0004g0264 a0001c0002t0004g0265 a0001c0002t0004g0368 a0001c0002t0006g0001 a0001c0002t0006g0002 a0001c0002t0006g0035 a0001c0002t0006g0036 a0001c0002t0006g0038 a0001c0002t0006g0039 a0001c0002t0006g0040 a0001c0002t0006g0041 a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0046 a0001c0002t0006g0049 a0001c0002t0006g0050 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0054 a0001c0002t0006g0111 a0001c0002t0006g0317 a0001c0002t0006g0354 a0001c0002t0009g0029 a0001c0002t0009g0173 a0001c0002t0009g0174 a0001c0002t0009g0175 a0001c0002t0009g0179 a0001c0002t0009g0208 a0001c0002t0011g0165 a0001c0002t0011g0187 a0001c0002t0011g0191 a0001c0002t0011g0202 a0001c0002t0011g0214 a0001c0002t0018g0102 a0001c0002t0018g0104 a0001c0002t0018g0118 a0001c0002t0019g0229 a0001c0002t0019g0236 a0001c0002t0019g0237 a0001c0002t0028g0204 a0001c0002t0041g0318 a0001c0002t0042g0296 a0001c0002t0043g0108 a0001c0002t0044g0222 a0001c0002t0046g0003 a0001c0002t0047g0061 a0001c0002t0048g0238 a0001c0002t0049g0337 a0001c0014t0003g0064 a0001c0021t0050g0365 a0001c0028t0004g0074 a0003c0005t0003g0018 a0003c0005t0003g0019 a0003c0005t0003g0176 a0003c0005t0003g0177 a0003c0005t0003g0270 a0003c0005t0003g0314 a0003c0005t0027g0207 a0003c0005t0027g0332 a0003c0005t0045g0018 a0004c0006t0003g0017 a0004c0006t0003g0166 a0004c0006t0003g0169 a0004c0006t0003g0171 a0004c0006t0003g0172 a0004c0020t0003g0130 a0007c0012t0003g0203 a0009c0026t0003g0206 a0014c0025t0003g0170 a0015c0027t0006g0037	143	358	0.3994	25	c.35 others(36): Show c.3599_*3600insTATATAAACAACTTTGTAGGACTAT	ITGA2	ENSG00000164171.11	transcript	ENST00000296585.10	protein_coding	30/30	3600	INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGAE_chr17_3709628_3806188	3711370	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA18992.hp1 NA19012.hp1 others(1): Show HG00423.hp1 NA18992.hp1 NA19012.hp1 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0133 a0002c0002t0001g0265 a0002c0002t0001g0001 a0002c0002t0001g0133 a0002c0002t0001g0265	4	45	0.0889	25	c.34 others(36): Show c.3476_*3477insAAAAAAAAAAAAAAAAAAAAAAAAA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding		3257		chr17	TogoVar
ITGAL_chr16_30467742_30528185	30493245	C C	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20129.hp2 NA18522.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0300 a0002c0003t0001g0308 a0002c0003t0001g0300 a0002c0003t0001g0308	2	16	0.1250	25	c.121 others(42): Show c.1214-952_1214-928dupTATTTTATTTTATTTTATTTTATTT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	11/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499734	T T	TATGTATA others(18): Show TATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0260 a0010c0012t0001g0260	1	310	0.0032	25	c.214 others(42): Show c.2145+245_2145+246insATGTATATATATATATATATATATA	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30			chr16	TogoVar
ITGAL_chr16_30467742_30528185	30523659	G G	GAAAACCC others(18): Show GAAAACCCCGTCTCTACTAAAAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG02897.hp1 others(3): Show HG02630.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03225.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0016 a0001c0001 a0001c0017 a0002c0016	a0001c0001t0003 a0001c0017t0006 a0002c0016t0006 a0001c0001t0003 a0001c0017t0006 a0002c0016t0006	a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0254 others(3): Show a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0017t0006g0012 a0002c0016t0006g0233	6	316	0.0190	25	c.19 others(36): Show c.1994_*1995insAAAACCCCGTCTCTACTAAAAATAC	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding		475		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270137	G G	GCTTTCCT others(18): Show GCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02135.hp1 HG01243.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0180 a0001c0001t0001g0192	2	106	0.0189	25	c.428 others(40): Show c.428-787_428-763dupCCTTTCCTTTCCTTTCCTTTCCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01169.hp1 HG01943.hp2 others(1): Show HG00423.hp1 HG01169.hp1 HG01943.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0007 a0001c0001t0001g0185 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0014g0160	4	33	0.1212	25	c.243 others(42): Show c.2433+441_2433+442insATATATATATATATATATATATTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19009.hp2 NA18949.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0204 a0001c0001t0001g0208	2	31	0.0645	25	c.243 others(42): Show c.2433+441_2433+442insATATATATATATATATATATTTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	30	0.0333	25	c.243 others(42): Show c.2433+441_2433+442insATATATATATATATATATTTTTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB6_chr2_160094671_160205272	160170114	A A	AATATGTT others(18): Show AATATGTTAATTATGACATAAGTAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG02280.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0118 a0001c0001t0014g0298 a0001c0001t0004g0118 a0001c0001t0014g0298	2	356	0.0056	25	c.922 others(40): Show c.922-832_922-808dupGTTACTTATGTCATAATTAACATAT	ITGB6	ENSG00000115221.12	transcript	ENST00000283249.7	protein_coding	6/14			chr2	TogoVar
ITGBL1_chr13_101447675_101721446	101588297	T T	TTGGTGTG others(18): Show TTGGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG06807.hp2 NA20300.hp2 HG03130.hp1 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0007 a0001c0001t0002g0031 a0001c0001t0006g0087 a0001c0001t0001g0007 a0001c0001t0002g0031 a0001c0001t0006g0087	3	57	0.0526	25	c.868 others(42): Show c.868+4943_868+4944insGTGTGTGTGTGTGTGTGTGTGTGTG	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01993.hp1 HG02040.hp2 others(6): Show HG01255.hp2 HG01993.hp1 HG02040.hp2 HG02300.hp1 HG03098.hp2 HG03195.hp1 HG04184.hp2 NA18971.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0011t0001 a0002c0004t0001	a0001c0001t0001g0171 a0001c0001t0001g0198 a0001c0002t0001g0006 others(6): Show a0001c0001t0001g0171 a0001c0001t0001g0198 a0001c0002t0001g0006 a0001c0002t0001g0240 a0001c0003t0001g0180 a0001c0006t0001g0223 a0001c0011t0001g0039 a0001c0011t0001g0049 a0002c0004t0001g0059	9	11	0.8182	25	c.101 others(44): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITK_chr5_157175840_157260185	157233964	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	279	0.0036	25	c.768 others(42): Show c.768+1570_768+1571insATATATATATATATATATATATATA	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16			chr5	TogoVar
ITLN2_chr1_160940025_160959809	160942871	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0044 a0005c0004t0001g0044	1	188	0.0053	25	c.22 others(36): Show c.2268_*2269insTTTTTTTTTTTTTTTTTTTTTTTTT	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		2153		chr1	TogoVar
ITPKB_chr1_226626690_226744282	226740869	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAGAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02630.hp1 others(1): Show HG02145.hp2 HG02257.hp1 HG02630.hp1 HG03471.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0014 a0003c0003 a0009c0014	a0003c0003t0007 a0003c0003t0016 a0009c0014t0011 others(1): Show a0003c0003t0007 a0003c0003t0016 a0009c0014t0011 a0009c0014t0016	a0003c0003t0007g0165 a0003c0003t0016g0163 a0009c0014t0011g0226 others(1): Show a0003c0003t0007g0165 a0003c0003t0016g0163 a0009c0014t0011g0226 a0009c0014t0016g0227	4	347	0.0115	25	c.-20 others(36): Show c.-2035_-2034insCTTCTCTTTTTTTTTTTTTTTTTTT	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding		1588		chr1	TogoVar
ITPR1_chr3_4488348_4852506	4610974	C C	CTTCCCCC others(18): Show CTTCCCCCTTCCCCCTCCTTCTCCTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02145.hp1 HG02523.hp2 others(13): Show HG02027.hp2 HG02145.hp1 HG02523.hp2 HG02723.hp1 HG02809.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA18960.hp2 NA18984.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0001c0034 a0001c0038 a0001c0049 a0001c0051 a0001c0062 a0001c0101	a0001c0001t0002 a0001c0002t0015 a0001c0003t0001 others(12): Show a0001c0001t0002 a0001c0002t0015 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0005t0002 a0001c0006t0006 a0001c0008t0001 a0001c0012t0001 a0001c0034t0001 a0001c0038t0009 a0001c0049t0001 a0001c0051t0001 a0001c0062t0001 a0001c0101t0001	a0001c0001t0002g0005 a0001c0002t0015g0130 a0001c0003t0001g0056 others(13): Show a0001c0001t0002g0005 a0001c0002t0015g0130 a0001c0003t0001g0056 a0001c0003t0003g0155 a0001c0004t0001g0008 a0001c0005t0002g0140 a0001c0006t0006g0001 a0001c0008t0001g0006 a0001c0008t0001g0113 a0001c0012t0001g0009 a0001c0034t0001g0169 a0001c0038t0009g0119 a0001c0049t0001g0023 a0001c0051t0001g0116 a0001c0062t0001g0126 a0001c0101t0001g0018	16	168	0.0952	25	c.164 others(44): Show c.164-16789_164-16788insTTCCCCCTTCCCCCTCCTTCTCCTT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61			chr3	TogoVar
ITPR2_chr12_26330352_26838194	26462154	C C	CTTTTGTT others(18): Show CTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02965.hp1 others(3): Show HG02451.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp2 HG03225.hp2 HG03516.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0016 a0001c0034 a0001c0037 others(3): Show a0001c0016 a0001c0034 a0001c0037 a0002c0023 a0003c0033 a0003c0041	a0001c0016t0042 a0001c0034t0004 a0001c0037t0009 others(3): Show a0001c0016t0042 a0001c0034t0004 a0001c0037t0009 a0002c0023t0019 a0003c0033t0034 a0003c0041t0003	a0001c0016t0042g0107 a0001c0034t0004g0057 a0001c0037t0009g0059 others(3): Show a0001c0016t0042g0107 a0001c0034t0004g0057 a0001c0037t0009g0059 a0002c0023t0019g0114 a0003c0033t0034g0038 a0003c0041t0003g0098	6	69	0.0870	25	c.634 others(46): Show c.6342+13117_6342+13141dupCAAAACAAAACAAAACAAAACAAA A	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	45/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516275	G G	GGGAAAGG others(18): Show GGGAAAGGAAGGGAAAGGAAGGGAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA20805.hp2 NA18960.hp1 NA20805.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0039 a0001c0012t0005 a0001c0012t0039	a0001c0012t0005g0010 a0001c0012t0039g0086 a0001c0012t0005g0010 a0001c0012t0039g0086	2	104	0.0192	25	c.507 others(46): Show c.5074-21016_5074-21015insTTTCCCTTCCTTTCCCTTCCTTTC C	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516285	G G	GGGAAAGG others(18): Show GGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0018 a0002c0017t0018	a0002c0017t0018g0109 a0002c0017t0018g0109	1	41	0.0244	25	c.507 others(46): Show c.5074-21050_5074-21026dupTTTCCTTTCCTTTCCTTTCCTTTC C	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516285	G G	GGGAAGGG others(18): Show GGGAAGGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18906.hp2 HG02965.hp2 NA18906.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0041 a0002c0009t0001 a0002c0009t0041	a0002c0009t0001g0016 a0002c0009t0041g0110 a0002c0009t0001g0016 a0002c0009t0041g0110	2	42	0.0476	25	c.507 others(46): Show c.5074-21026_5074-21025insTTTCCTTTCCTTTCCTTTCCCTTC C	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26565843	A A	AGAGGAGA others(18): Show AGAGGAGAGGAGAGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02735.hp1 HG03017.hp1 HG01496.hp2 HG02735.hp1 HG03017.hp1	a0001 a0001	a0001c0007 a0001c0028 a0001c0007 a0001c0028	a0001c0007t0005 a0001c0028t0001 a0001c0028t0010 a0001c0007t0005 a0001c0028t0001 a0001c0028t0010	a0001c0007t0005g0048 a0001c0028t0001g0023 a0001c0028t0010g0127 a0001c0007t0005g0048 a0001c0028t0001g0023 a0001c0028t0010g0127	3	140	0.0214	25	c.463 others(44): Show c.4631-3916_4631-3892dupCCCTCCCCTCTCCTCTCCTCTCCTC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26565973	G G	GGAGGAGA others(18): Show GGAGGAGAGGAGAGGGGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0058 a0001c0005t0015g0058	1	123	0.0081	25	c.463 others(44): Show c.4631-4022_4631-4021insTCCTCTCCTCCCCTCTCCTCTCCTC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26666162	A A	ATAGATAG others(18): Show ATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00741.hp1 others(21): Show HG00140.hp1 HG00639.hp1 HG00741.hp1 HG01168.hp2 HG01192.hp2 HG02132.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp2 NA18747.hp2 NA18956.hp2 NA18964.hp1 NA18970.hp1 NA19090.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0029 a0001c0030 a0001c0042 a0001c0045 a0001c0046 a0002c0010 a0002c0017 a0003c0033 a0003c0047 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0011 a0001c0004t0048 a0001c0006t0003 a0001c0007t0021 a0001c0012t0006 a0001c0012t0039 a0001c0029t0011 a0001c0030t0004 a0001c0042t0025 a0001c0045t0001 a0001c0046t0002 a0002c0010t0007 a0002c0017t0018 a0003c0033t0034 a0003c0047t0004 a0004c0014t0013	a0001c0001t0001g0008 a0001c0001t0002g0034 a0001c0001t0003g0035 others(21): Show a0001c0001t0001g0008 a0001c0001t0002g0034 a0001c0001t0003g0035 a0001c0003t0023g0135 a0001c0003t0033g0088 a0001c0004t0001g0004 a0001c0004t0011g0130 a0001c0004t0048g0117 a0001c0006t0003g0055 a0001c0007t0021g0119 a0001c0012t0006g0087 a0001c0012t0039g0086 a0001c0029t0011g0132 a0001c0030t0004g0022 a0001c0042t0025g0001 a0001c0045t0001g0042 a0001c0046t0002g0070 a0002c0010t0007g0090 a0002c0017t0018g0108 a0002c0017t0018g0109 a0003c0033t0034g0038 a0003c0047t0004g0083 a0004c0014t0013g0033 a0004c0014t0013g0085	24	45	0.5333	25	c.141 others(42): Show c.1410-112_1410-111insATCTATCTATCTATCTATCTATCTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	13/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26784363	C C	CTCTCCCT others(18): Show CTCTCCCTCTCCCTCCACGGTCTCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01496.hp1 others(2): Show HG00642.hp1 HG00642.hp2 HG01496.hp1 HG02630.hp2 HG03486.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0004 a0001c0048 others(2): Show a0001c0003 a0001c0004 a0001c0048 a0002c0010 a0005c0067	a0001c0003t0014 a0001c0004t0010 a0001c0048t0012 others(2): Show a0001c0003t0014 a0001c0004t0010 a0001c0048t0012 a0002c0010t0007 a0005c0067t0003	a0001c0003t0014g0045 a0001c0004t0010g0120 a0001c0048t0012g0091 others(2): Show a0001c0003t0014g0045 a0001c0004t0010g0120 a0001c0048t0012g0091 a0002c0010t0007g0090 a0005c0067t0003g0037	5	52	0.0962	25	c.163 others(42): Show c.163+5793_163+5794insAGGAGACCGTGGAGGGAGAGGGAGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPRIP_chr10_104304700_104343465	104309331	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	295	0.0034	25	c.50 others(36): Show c.5076_*5077insTATATATATATATATATATATATAT	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		368		chr10	TogoVar
IVD_chr15_40400795_40426308	40405996	G G	GCCCCAAG others(18): Show GCCCCAAGGCCTCCTTCCTGCCTGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01934.hp2 others(2): Show HG00280.hp1 HG01168.hp2 HG01934.hp2 HG02293.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0014 a0001c0001t0001g0042	5	359	0.0139	25	c.144 others(38): Show c.144+56_144+80dupAGGCCTCCTTCCTGCCTGGTCCCCA	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr15	TogoVar

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