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
ITGB3_chr17_47248827_47318743	47300346	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0020 a0004c0007t0020	a0004c0007t0020g0218 a0004c0007t0020g0218	1	370	0.0027	22	c.191 others(39): Show c.1914-131_1914-110dupGTGTGTGTGTGTGTGTGTGTGT	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB5_chr3_124756948_124892365	124798055	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0245 a0001c0008t0009g0245	1	352	0.0028	22	c.126 others(41): Show c.1264-1239_1264-1238insAAAAAAAAAAAAAAAAAAAAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	9/14			chr3	TogoVar
ITGB6_chr2_160094671_160205272	160141899	C C	CTGCCTAA others(15): Show CTGCCTAAAATGTTACCAACAAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp1 NA19240.hp2 HG03516.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0309 a0001c0001t0001g0013 a0001c0001t0001g0309	3	358	0.0084	22	c.110 others(37): Show c.1107+82_1107+83insCTTGTTGGTAACATTTTAGGCA	ITGB6	ENSG00000115221.12	transcript	ENST00000283249.7	protein_coding	8/14			chr2	TogoVar
ITGBL1_chr13_101447675_101721446	101604881	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG01943.hp1 HG00738.hp1 HG01496.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0176	3	306	0.0098	22	c.101 others(41): Show c.1015+6583_1015+6584insCACACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604885	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01069.hp1 others(11): Show HG00408.hp1 HG00621.hp2 HG01069.hp1 HG01261.hp2 HG02040.hp1 HG03492.hp2 NA18747.hp2 NA18941.hp2 NA18953.hp2 NA19001.hp1 NA19063.hp2 NA19074.hp2 NA19085.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0007 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0002c0007t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0026 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0002t0001g0216 a0001c0002t0001g0225 a0001c0003t0001g0014 a0001c0003t0001g0104 a0001c0003t0001g0161 a0001c0003t0001g0184 a0001c0006t0001g0246 a0002c0007t0001g0074 a0002c0008t0001g0064	14	306	0.0458	22	c.101 others(41): Show c.1015+6587_1015+6588insCACACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0181 a0001c0003t0004g0181	1	306	0.0033	22	c.101 others(41): Show c.1015+6603_1015+6604insCACACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATACACA others(15): Show TATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	306	0.0033	22	c.101 others(41): Show c.1015+6589_1015+6590insTACACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATACA others(15): Show TATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	306	0.0033	22	c.101 others(41): Show c.1015+6589_1015+6590insTATACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(15): Show TATATATATACACATACATACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0048 a0004c0013t0001g0048	1	306	0.0033	22	c.101 others(41): Show c.1015+6589_1015+6590insTATATATACACATACATACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATGTA others(15): Show TATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03669.hp2 NA18953.hp1 others(2): Show HG01099.hp1 HG03669.hp2 NA18953.hp1 NA18975.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0001g0116 a0001c0001t0001g0166 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0002g0165 a0001c0001t0002g0206	5	306	0.0163	22	c.101 others(41): Show c.1015+6589_1015+6590insTATGTATATATATATATACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp2 others(18): Show HG00408.hp1 HG00544.hp1 HG00609.hp2 HG01167.hp1 HG02027.hp1 HG02083.hp1 HG02735.hp2 HG03704.hp2 HG04115.hp1 NA18747.hp2 NA18948.hp1 NA18954.hp1 NA18957.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp2 NA19010.hp1 NA19056.hp1 NA19066.hp1 NA19072.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0002c0007 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0002c0004t0001 a0002c0007t0001 a0002c0008t0001	a0001c0001t0001g0021 a0001c0001t0001g0070 a0001c0001t0001g0114 others(18): Show a0001c0001t0001g0021 a0001c0001t0001g0070 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0002g0091 a0001c0002t0001g0230 a0001c0002t0001g0236 a0001c0002t0001g0281 a0001c0003t0001g0102 a0001c0003t0001g0155 a0001c0003t0001g0168 a0001c0006t0001g0246 a0001c0006t0001g0259 a0002c0004t0001g0018 a0002c0007t0001g0164 a0002c0008t0001g0064 a0002c0008t0001g0254	21	306	0.0686	22	c.101 others(41): Show c.1016-3373_1016-3352dupAAAAAAAAAAAAAAAAAAAAAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TATATTCT others(15): Show TATATTCTATATTCTATAGAATA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	380	0.0026	22	c.195 others(39): Show c.1958-943_1958-942insATATTCTATATTCTATAGAATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TCTATAGA others(15): Show TCTATAGAATATTCTATATTATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	380	0.0026	22	c.195 others(39): Show c.1958-943_1958-942insCTATAGAATATTCTATATTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7597063	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp2 HG03130.hp1 others(1): Show HG01168.hp1 HG01255.hp2 HG03130.hp1 NA18522.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0080 a0004c0007 a0004c0008 others(1): Show a0001c0080 a0004c0007 a0004c0008 a0006c0010	a0001c0080t0001 a0004c0007t0058 a0004c0008t0029 others(1): Show a0001c0080t0001 a0004c0007t0058 a0004c0008t0029 a0006c0010t0001	a0001c0080t0001g0289 a0004c0007t0058g0140 a0004c0008t0029g0072 others(1): Show a0001c0080t0001g0289 a0004c0007t0058g0140 a0004c0008t0029g0072 a0006c0010t0001g0097	4	342	0.0117	22	c.940 others(41): Show c.940-10995_940-10994insATTTTTTTTTTTTTTTTTTTTT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644546	A A	ATGATATA others(15): Show ATGATATATATCACATATATATG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02523.hp2 others(2): Show HG01168.hp2 HG01169.hp2 HG02523.hp2 HG02559.hp1 HG04199.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0007	a0002c0003 a0003c0005 a0004c0016 others(1): Show a0002c0003 a0003c0005 a0004c0016 a0007c0011	a0002c0003t0001 a0003c0005t0001 a0004c0016t0002 others(1): Show a0002c0003t0001 a0003c0005t0001 a0004c0016t0002 a0007c0011t0007	a0002c0003t0001g0143 a0003c0005t0001g0146 a0004c0016t0002g0142 others(2): Show a0002c0003t0001g0143 a0003c0005t0001g0146 a0004c0016t0002g0142 a0004c0016t0002g0144 a0007c0011t0007g0137	5	342	0.0146	22	c.136 others(39): Show c.136-2457_136-2456insCATATATATGTGATATATATCA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13			chr10	TogoVar
ITK_chr5_157175840_157260185	157233932	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	348	0.0029	22	c.768 others(39): Show c.768+1549_768+1570dupATATATATATATATATATATAT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITLN1_chr1_160871540_160890180	160888205	C C	CACACATA others(15): Show CACACATACACACACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02735.hp1 others(6): Show HG02071.hp1 HG02071.hp2 HG02735.hp1 NA18612.hp2 NA18967.hp2 NA18972.hp2 NA18974.hp2 NA19002.hp1 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0005 a0001c0004t0002g0005	9	428	0.0210	22	c.-31 others(33): Show c.-3152_-3151insATGTGTGTGTGTGTGTATGTGT	ITLN1	ENSG00000179914.5	transcript	ENST00000326245.4	protein_coding		3026		chr1	TogoVar
ITLN2_chr1_160940025_160959809	160942871	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	480	0.0021	22	c.22 others(33): Show c.2268_*2269insTTTTTTTTTTTTTTTTTTTTTT	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		2153		chr1	TogoVar
ITM2C_chr2_230859942_230884248	230865956	T T	TTCCCCCA others(15): Show TTCCCCCACCCCTGTCGCCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00642.hp2 others(25): Show HG00280.hp2 HG00639.hp1 HG00642.hp2 HG01109.hp2 HG01175.hp2 HG01346.hp2 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0167 others(15): Show a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0004g0049 a0002c0002t0001g0024 a0002c0002t0001g0180 a0002c0002t0002g0050	28	398	0.0704	22	c.120 others(37): Show c.120+826_120+827insGCCCCCCTCCCCCACCCCTGTC	ITM2C	ENSG00000135916.16	transcript	ENST00000326427.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITPR1_chr3_4488348_4852506	4609051	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19000.hp1 NA18945.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0043 a0001c0001 a0001c0043	a0001c0001t0001 a0001c0043t0002 a0001c0001t0001 a0001c0043t0002	a0001c0001t0001g0004 a0001c0043t0002g0092 a0001c0001t0001g0004 a0001c0043t0002g0092	2	176	0.0114	22	c.164 others(41): Show c.164-18694_164-18673dupTATATATATATATATATATATA	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4721172	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03041.hp2 HG03471.hp1 others(1): Show HG01081.hp2 HG03041.hp2 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0009 others(1): Show a0001c0002 a0001c0004 a0001c0009 a0001c0038	a0001c0002t0006 a0001c0004t0001 a0001c0009t0009 others(1): Show a0001c0002t0006 a0001c0004t0001 a0001c0009t0009 a0001c0038t0009	a0001c0002t0006g0075 a0001c0004t0001g0008 a0001c0009t0009g0122 others(1): Show a0001c0002t0006g0075 a0001c0004t0001g0008 a0001c0009t0009g0122 a0001c0038t0009g0119	4	176	0.0227	22	c.513 others(41): Show c.5136+3783_5136+3804dupATATATATATATATATATATAT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4721172	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0004 a0001c0068t0004	a0001c0068t0004g0174 a0001c0068t0004g0174	1	176	0.0057	22	c.513 others(41): Show c.5136+3774_5136+3775insGTATATATATATATATATATAT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4831125	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0145 a0001c0011t0001g0145	1	176	0.0057	22	c.802 others(41): Show c.8029-5648_8029-5647insACACACACACACACACACACAC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	60/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4831131	T T	TCTCACAC others(15): Show TCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02698.hp1 HG03041.hp2 others(2): Show HG00735.hp2 HG02698.hp1 HG03041.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0059 a0001c0066 others(2): Show a0001c0004 a0001c0059 a0001c0066 a0001c0083 a0001c0102	a0001c0004t0001 a0001c0059t0011 a0001c0066t0001 others(2): Show a0001c0004t0001 a0001c0059t0011 a0001c0066t0001 a0001c0083t0001 a0001c0102t0001	a0001c0004t0001g0008 a0001c0059t0011g0094 a0001c0066t0001g0054 others(2): Show a0001c0004t0001g0008 a0001c0059t0011g0094 a0001c0066t0001g0054 a0001c0083t0001g0160 a0001c0102t0001g0168	5	176	0.0284	22	c.802 others(41): Show c.8029-5642_8029-5641insTCACACACACACACACACACAC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	60/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26409562	A A	ATCTTAGG others(15): Show ATCTTAGGCTTACATACAGTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp1 HG03540.hp2 HG02896.hp1 HG02922.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0030 a0001c0034 a0001c0002 a0001c0030 a0001c0034	a0001c0002t0036 a0001c0030t0004 a0001c0034t0004 a0001c0002t0036 a0001c0030t0004 a0001c0034t0004	a0001c0002t0036g0011 a0001c0030t0004g0009 a0001c0034t0004g0050 a0001c0002t0036g0011 a0001c0030t0004g0009 a0001c0034t0004g0050	3	142	0.0211	22	c.739 others(41): Show c.7399+1736_7399+1757dupGAAACTGTATGTAAGCCTAAGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	52/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26503190	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0020 a0001c0013t0002g0020	1	142	0.0070	22	c.507 others(41): Show c.5074-7952_5074-7931dupGTGTGTGTGTGTGTGTGTGTGT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26567982	A A	ATATATAT others(15): Show ATATATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0009 a0001c0031t0009	a0001c0031t0009g0003 a0001c0031t0009g0003	1	142	0.0070	22	c.463 others(41): Show c.4631-6031_4631-6030insATATATATAATATATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0034 a0003c0033t0034	a0003c0033t0034g0034 a0003c0033t0034g0034	1	142	0.0070	22	c.163 others(41): Show c.163+14223_163+14224insATATATATATATATATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31519612	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0028 a0004c0025t0028	a0004c0025t0028g0226 a0004c0025t0028g0226	1	312	0.0032	22	c.-98 others(39): Show c.-98+5493_-98+5494insATATATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519618	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0169 a0002c0001t0001g0169	1	312	0.0032	22	c.-98 others(39): Show c.-98+5499_-98+5500insATATATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CCATATAT others(15): Show CCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA19060.hp1 HG01943.hp2 NA19060.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0022 a0003c0005t0003 a0002c0001t0022 a0003c0005t0003	a0002c0001t0022g0174 a0003c0005t0003g0173 a0002c0001t0022g0174 a0003c0005t0003g0173	2	312	0.0064	22	c.-98 others(39): Show c.-98+5500_-98+5501insCATATATATATATATATATATA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14			chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0019 a0005c0009t0004g0019	1	312	0.0032	22	c.-98 others(39): Show c.-98+5505_-98+5526dupTATATATATATATATATATATA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTATAT others(15): Show CTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02055.hp1 HG02647.hp1 others(1): Show HG00438.hp2 HG02055.hp1 HG02647.hp1 NA18981.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0009c0047	a0001c0002t0002 a0001c0003t0002 a0002c0001t0001 others(1): Show a0001c0002t0002 a0001c0003t0002 a0002c0001t0001 a0009c0047t0005	a0001c0002t0002g0229 a0001c0003t0002g0025 a0002c0001t0001g0026 others(1): Show a0001c0002t0002g0229 a0001c0003t0002g0025 a0002c0001t0001g0026 a0009c0047t0005g0084	4	312	0.0128	22	c.-98 others(39): Show c.-98+5501_-98+5502insCTATATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCCAT others(15): Show CTCTCCATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0189 a0003c0005t0003g0189	1	312	0.0032	22	c.-98 others(39): Show c.-98+5501_-98+5502insCTCCATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18954.hp2 NA20805.hp1 HG01256.hp1 NA18954.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0003t0032 a0001c0002t0002 a0001c0003t0001 a0001c0003t0032	a0001c0002t0002g0100 a0001c0003t0001g0031 a0001c0003t0032g0032 a0001c0002t0002g0100 a0001c0003t0001g0031 a0001c0003t0032g0032	3	312	0.0096	22	c.-98 others(39): Show c.-98+5501_-98+5502insCTCTATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02572.hp2 NA18957.hp1 others(1): Show HG01358.hp2 HG02572.hp2 NA18957.hp1 NA18957.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0006 a0001c0002 a0001c0003 a0004c0006	a0001c0002t0002 a0001c0003t0001 a0004c0006t0006 a0001c0002t0002 a0001c0003t0001 a0004c0006t0006	a0001c0002t0002g0037 a0001c0002t0002g0103 a0001c0003t0001g0036 others(1): Show a0001c0002t0002g0037 a0001c0002t0002g0103 a0001c0003t0001g0036 a0004c0006t0006g0130	4	312	0.0128	22	c.-98 others(39): Show c.-98+5501_-98+5502insCTCTCTATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 NA19058.hp2 others(1): Show HG01069.hp1 HG01071.hp1 NA19058.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0027 a0001c0002 a0004c0027	a0001c0002t0001 a0001c0002t0002 a0004c0027t0003 a0001c0002t0001 a0001c0002t0002 a0004c0027t0003	a0001c0002t0001g0107 a0001c0002t0002g0165 a0004c0027t0003g0043 others(1): Show a0001c0002t0001g0107 a0001c0002t0002g0165 a0004c0027t0003g0043 a0004c0027t0003g0044	4	312	0.0128	22	c.-98 others(39): Show c.-98+5501_-98+5502insCTCTCTCTATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02080.hp1 HG02280.hp2 others(1): Show HG00408.hp1 HG02080.hp1 HG02280.hp2 NA18994.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0003 a0004c0028 a0005c0039 a0001c0003 a0004c0028 a0005c0039	a0001c0003t0001 a0001c0003t0002 a0004c0028t0003 others(1): Show a0001c0003t0001 a0001c0003t0002 a0004c0028t0003 a0005c0039t0004	a0001c0003t0001g0054 a0001c0003t0002g0055 a0004c0028t0003g0080 others(1): Show a0001c0003t0001g0054 a0001c0003t0002g0055 a0004c0028t0003g0080 a0005c0039t0004g0131	4	312	0.0128	22	c.-98 others(39): Show c.-98+5501_-98+5502insCTCTCTCTCTATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0232 a0001c0002t0002g0232	1	312	0.0032	22	c.-98 others(39): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTCTATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519645	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	312	0.0032	22	c.-98 others(39): Show c.-98+5526_-98+5527insTATATATATATATATATATAAA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31595345	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp1 HG01169.hp1 others(4): Show HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01433.hp1 HG02698.hp2 NA20805.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0002c0034 a0005c0009 a0002c0001 a0002c0034 a0005c0009	a0002c0001t0005 a0002c0034t0005 a0005c0009t0004 a0002c0001t0005 a0002c0034t0005 a0005c0009t0004	a0002c0001t0005g0267 a0002c0001t0005g0276 a0002c0001t0005g0283 others(3): Show a0002c0001t0005g0267 a0002c0001t0005g0276 a0002c0001t0005g0283 a0002c0001t0005g0289 a0002c0034t0005g0295 a0005c0009t0004g0001	7	312	0.0224	22	c.122 others(43): Show c.1228+12161_1228+12182dupACACACACACACACACACACAC	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL2_chr16_19108964_19126629	19120625	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0000 a0001c0001t0100g0000	1	330	0.0030	22	c.45 others(33): Show c.4557_*4558insATATATATATATATATATTTTT	ITPRIPL2	ENSG00000205730.7	transcript	ENST00000381440.5	protein_coding	1/1	4558	INFO_REALIGN_3_PRIME	chr16	TogoVar
ITPRIP_chr10_104304700_104343465	104309305	C C	CATATATA others(15): Show CATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0190 a0001c0001t0026g0190	1	324	0.0031	22	c.51 others(33): Show c.5102_*5103insATATATATATATATATATATAT	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		394		chr10	TogoVar
ITPRIP_chr10_104304700_104343465	104309330	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	324	0.0031	22	c.50 others(33): Show c.5077_*5078insAAAATATATATATATATATATA	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		369		chr10	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(15): Show AATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00733.hp2 others(20): Show HG00140.hp2 HG00323.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01433.hp1 HG01516.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp2 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03688.hp2 HG03704.hp1 NA19007.hp1 NA19066.hp2 NA19079.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0009c0009	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0004c0004t0004 a0009c0009t0001	a0001c0001t0001g0041 a0001c0001t0001g0086 a0001c0001t0001g0111 others(20): Show a0001c0001t0001g0041 a0001c0001t0001g0086 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0150 a0001c0001t0001g0152 a0002c0002t0001g0164 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0190 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0143 a0004c0004t0001g0004 a0004c0004t0001g0007 a0004c0004t0001g0015 a0004c0004t0001g0023 a0004c0004t0004g0014 a0004c0004t0004g0016 a0009c0009t0001g0163	23	224	0.1027	22	c.-33 others(39): Show c.-33-9201_-33-9200insATATATGTATATATATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24361740	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01109.hp2 HG01934.hp1 others(14): Show HG00733.hp1 HG01109.hp2 HG01934.hp1 HG02080.hp2 HG02135.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 NA18522.hp2 NA18906.hp1 NA18952.hp2 NA18959.hp1 NA18972.hp2 NA18981.hp1 NA19007.hp2 NA19077.hp2	a0001 a0006 a0014 a0001 a0006 a0014	a0001c0001 a0001c0018 a0006c0008 others(1): Show a0001c0001 a0001c0018 a0006c0008 a0014c0023	a0001c0001t0001 a0001c0001t0003 a0001c0018t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0018t0001 a0006c0008t0001 a0014c0023t0001	a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0058 others(14): Show a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0192 a0001c0001t0003g0054 a0001c0018t0001g0199 a0006c0008t0001g0102 a0006c0008t0001g0104 a0014c0023t0001g0115	17	224	0.0759	22	c.-14 others(33): Show c.-1471_-1470insTTTTTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding		1205		chr2	TogoVar
IVD_chr15_40400795_40426308	40422585	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01256.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0087 a0001c0001t0002g0002 a0001c0001t0002g0087	2	378	0.0053	22	c.43 others(33): Show c.4322_*4323insTTTTTTTTTTTTTTTTTTTTTT	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1278		chr15	TogoVar
IVD_chr15_40400795_40426308	40425440	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0004 a0002c0003t0009 a0001c0002t0004 a0002c0003t0009	a0001c0002t0004g0004 a0002c0003t0009g0109 a0001c0002t0004g0004 a0002c0003t0009g0109	2	378	0.0053	22	c.71 others(33): Show c.7177_*7178insTATATATATATATATATATATA	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		4133		chr15	TogoVar
JAG1_chr20_10632684_10678999	10636957	A A	AAGCCTAG others(15): Show AAGCCTAGAAGAAAAAATGTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 NA18945.hp1 others(2): Show HG00621.hp1 HG00621.hp2 NA18945.hp1 NA18959.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0001t0003 a0001c0025t0002 a0001c0001t0001 a0001c0001t0003 a0001c0025t0002	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0307 others(2): Show a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0307 a0001c0001t0003g0029 a0001c0025t0002g0096	5	412	0.0121	22	c.25 others(33): Show c.2540_*2541insGAAACATTTTTTCTTCTAGGCT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding		726		chr20	TogoVar
JAG2_chr14_105135995_105173776	105161114	C C	CGAGTGAG others(15): Show CGAGTGAGGTCTGTTGGGGGTCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0257 a0001c0001t0001g0213 a0001c0001t0001g0257	2	364	0.0055	22	c.418 others(39): Show c.418-3373_418-3352dupAGACCCCCAACAGACCTCACTC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar

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