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
IRF6_chr1_209780617_209811142	209806757	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	30	c.-88 others(39): Show c.-887_-886insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IRF6	ENSG00000117595.13	transcript	ENST00000367021.8	protein_coding		616		chr1	TogoVar
IRF7_chr11_607555_620950	613610	A A	AGCTGTGA others(23): Show AGCTGTGAGTGACGGGGGTGGGCGGGGACAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0042 a0001c0003t0002g0042	1	407	0.0025	30	c.848 others(43): Show c.848-45_848-16dupCTGTCCCCGCCCACCCCCGTCACTCACAGC	IRF7	ENSG00000185507.21	transcript	ENST00000525445.6	protein_coding	8/10			chr11	TogoVar
IRF8_chr16_85894162_85927606	85904812	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0192 a0001c0001t0013g0192	1	432	0.0023	30	c.174 others(47): Show c.174+1643_174+1644insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	IRF8	ENSG00000140968.12	transcript	ENST00000268638.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(23): Show TATATATATATATATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0028 a0002c0003t0002g0028	1	412	0.0024	30	c.48 others(41): Show c.4880_*4881insATATATATATATATACACACACACACACAC	IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding		4810		chr19	TogoVar
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 NA19240.hp2 HG02486.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	412	0.0049	30	c.48 others(41): Show c.4880_*4881insATATATATATATATATATACACACACACAC	IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding		4810		chr19	TogoVar
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG02970.hp1 others(1): Show HG02723.hp2 HG02818.hp1 HG02970.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	4	412	0.0097	30	c.48 others(41): Show c.4880_*4881insATATATATATATATATATATACACACACAC	IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding		4810		chr19	TogoVar
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 NA18965.hp1 NA18982.hp2 others(1): Show HG00621.hp2 NA18965.hp1 NA18982.hp2 NA18990.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0001 a0002c0003t0002g0001	4	412	0.0097	30	c.48 others(41): Show c.4880_*4881insATATATATATATATATATATATATACACAC	IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding		4810		chr19	TogoVar
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp2 NA19081.hp1 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0001 a0002c0003t0002g0001	2	412	0.0049	30	c.48 others(41): Show c.4880_*4881insATATATATATATATATATATATATATACAC	IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding		4810		chr19	TogoVar
IRGQ_chr19_43579367_43601134	43599131	G G	GTGCCCCC others(23): Show GTGCCCCCCCCCCCCCCCCCTCCCCGCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	426	0.0024	30	c.-31 others(41): Show c.-3153_-3152insGGGAGCGGGGAGGGGGGGGGGGGGGGGGCA	IRGQ	ENSG00000167378.10	transcript	ENST00000422989.6	protein_coding		2998		chr19	TogoVar
IRS1_chr2_226726312_226804820	226728076	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(83): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00733.hp2 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01517.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG03927.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18946.hp1 NA18951.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18992.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19060.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0009 a0011 a0013 a0017	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0019 a0002c0005 a0003c0006 a0005c0008 a0006c0009 a0009c0018 a0011c0014 a0013c0020 a0017c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(34): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0045 a0001c0001t0053 a0001c0001t0055 a0001c0001t0059 a0001c0001t0063 a0001c0001t0072 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0020 a0001c0002t0036 a0001c0002t0037 a0001c0002t0056 a0001c0003t0004 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0025 a0001c0004t0005 a0001c0019t0001 a0002c0005t0001 a0002c0005t0006 a0003c0006t0001 a0005c0008t0005 a0006c0009t0001 a0009c0018t0001 a0011c0014t0060 a0013c0020t0001 a0017c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(81): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0003g0110 a0001c0001t0003g0190 a0001c0001t0006g0158 a0001c0001t0006g0194 a0001c0001t0010g0123 a0001c0001t0010g0131 a0001c0001t0010g0132 a0001c0001t0014g0078 a0001c0001t0014g0079 a0001c0001t0014g0080 a0001c0001t0022g0002 a0001c0001t0023g0269 a0001c0001t0031g0047 a0001c0001t0045g0187 a0001c0001t0053g0114 a0001c0001t0055g0145 a0001c0001t0059g0159 a0001c0001t0063g0109 a0001c0001t0072g0271 a0001c0002t0001g0244 a0001c0002t0003g0223 a0001c0002t0005g0060 a0001c0002t0005g0068 a0001c0002t0020g0072 a0001c0002t0020g0073 a0001c0002t0036g0074 a0001c0002t0037g0063 a0001c0002t0056g0217 a0001c0003t0004g0022 a0001c0003t0004g0026 a0001c0003t0004g0037 a0001c0003t0004g0038 a0001c0003t0004g0040 a0001c0003t0004g0044 a0001c0003t0008g0016 a0001c0003t0008g0017 a0001c0003t0012g0013 a0001c0003t0012g0015 a0001c0003t0012g0043 a0001c0003t0013g0034 a0001c0003t0013g0035 a0001c0003t0025g0009 a0001c0004t0005g0058 a0001c0019t0001g0102 a0002c0005t0001g0087 a0002c0005t0006g0085 a0002c0005t0006g0092 a0003c0006t0001g0104 a0003c0006t0001g0105 a0003c0006t0001g0106 a0005c0008t0005g0048 a0005c0008t0005g0049 a0006c0009t0001g0100 a0006c0009t0001g0101 a0009c0018t0001g0099 a0011c0014t0060g0093 a0013c0020t0001g0205 a0017c0012t0001g0082	86	278	0.3094	30	c.81 others(41): Show c.8195_*8196insACACACACACACACACACACACACACACAC	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding		3235		chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	278	0.0036	30	c.21 others(49): Show c.21+28825_*21+28826insAAAAAAAAAAAATATATATATATATA TATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRX5_chr16_54925865_54939485	54928376	C C	CGGGGCGG others(23): Show CGGGGCGGGGGCGGGGGCGGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	390	0.0026	30	c.-28 others(41): Show c.-2823_-2822insGGGGCGGGGGCGGGGGCGGGGGCGGGGGCG	IRX5	ENSG00000176842.16	transcript	ENST00000394636.9	protein_coding		2488		chr16	TogoVar
IRX6_chr16_55319203_55335756	55324799	A A	AACACACT others(23): Show AACACACTACACAGCACACAACAACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0237 a0001c0001t0015g0237	1	448	0.0022	30	c.-29 others(39): Show c.-293_-292insACACACTACACAGCACACAACAACACACAC	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/6	292		chr16	TogoVar
IRX6_chr16_55319203_55335756	55325531	G G	GAAGGAAG others(23): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	448	0.0022	30	c.45+ others(43): Show c.45+396_45+397insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
ISM1_chr20_13216274_13305651	13221212	C C	CCCTCCTC others(23): Show CCCTCCTCCTCCTACTCCTCCTCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	396	0.0025	30	c.-56 others(39): Show c.-565_-564insCCTCCTCCTCCTACTCCTCCTCCTCCTCCT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding		61		chr20	TogoVar
ISM1_chr20_13216274_13305651	13221212	C C	CCCTCCTC others(23): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	396	0.0025	30	c.-56 others(39): Show c.-565_-564insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding		61		chr20	TogoVar
ISM1_chr20_13216274_13305651	13268114	G G	GTCTTCTC others(23): Show GTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02055.hp1 HG02129.hp2 others(7): Show HG01123.hp1 HG02055.hp1 HG02129.hp2 HG02717.hp1 HG03490.hp2 HG03492.hp2 NA18946.hp2 NA18967.hp1 NA19054.hp1 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0011 a0001c0001 a0001c0002 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0026 a0001c0002t0001 a0001c0002t0014 a0005c0011t0007	a0001c0001t0001g0073 a0001c0001t0001g0118 a0001c0001t0002g0104 others(7): Show a0001c0001t0001g0073 a0001c0001t0001g0118 a0001c0001t0002g0104 a0001c0001t0004g0348 a0001c0001t0026g0098 a0001c0002t0001g0165 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0014g0283 a0005c0011t0007g0367	10	396	0.0253	30	c.139 others(47): Show c.139-2379_139-2350dupTCTTCTCTTCTCTTCTCTTCTCTTCTCT TC	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(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(86): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01496.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02132.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG03195.hp2 HG03471.hp2 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 NA18939.hp1 NA18942.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0007c0008 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0014 a0001c0010t0029 a0007c0008t0001 a0008c0009t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(83): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0307 a0001c0001t0001g0323 a0001c0001t0001g0350 a0001c0001t0001g0371 a0001c0001t0001g0376 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0002g0071 a0001c0001t0002g0106 a0001c0001t0002g0173 a0001c0001t0002g0313 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0148 a0001c0001t0004g0340 a0001c0001t0004g0352 a0001c0001t0004g0358 a0001c0001t0005g0018 a0001c0001t0006g0134 a0001c0001t0006g0146 a0001c0001t0006g0149 a0001c0001t0006g0151 a0001c0001t0008g0084 a0001c0001t0009g0357 a0001c0001t0011g0364 a0001c0001t0016g0006 a0001c0001t0017g0341 a0001c0001t0025g0236 a0001c0001t0036g0221 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0233 a0001c0002t0001g0269 a0001c0002t0001g0285 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0382 a0001c0002t0003g0025 a0001c0002t0003g0038 a0001c0002t0003g0046 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0002t0014g0283 a0001c0010t0029g0006 a0007c0008t0001g0328 a0008c0009t0002g0248	89	396	0.2248	30	c.378 others(47): Show c.378+2482_378+2511dupATTTTATTTTATTTTATTTTATTTTATT TT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITCH_chr20_34358273_34516773	34462307	A A	AGTCTTAG others(23): Show AGTCTTAGTATTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA21309.hp2 HG02559.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0292 a0001c0001t0009g0293 a0001c0001t0009g0292 a0001c0001t0009g0293	2	294	0.0068	30	c.142 others(47): Show c.1424+101_1424+102insTTTTTTTTTTTTTTTGTCTTAGTATTTC TT	ITCH	ENSG00000078747.17	transcript	ENST00000374864.10	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITFG1_chr16_47149391_47466063	47315768	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp1 HG02723.hp1 others(2): Show HG01496.hp1 HG02280.hp1 HG02723.hp1 HG03041.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0003g0068 others(2): Show a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0003g0068 a0001c0002t0001g0067 a0001c0002t0001g0096	5	110	0.0455	30	c.803 others(47): Show c.803-1946_803-1945insATATATATATATATATATATATATATAT AT	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	8/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47396522	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02622.hp1 HG00735.hp2 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0088 a0001c0004t0001g0071 a0001c0002t0002g0088 a0001c0004t0001g0071	2	110	0.0182	30	c.656 others(49): Show c.656-20583_656-20582insCACACACACACACACACACACACACA CACA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	110	0.0091	30	c.655 others(49): Show c.655+19399_655+19400insAAAAAAAATATATATATATATATATA TATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITGA1_chr5_52782916_52964209	52962755	C C	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0081 a0003c0005t0081	a0003c0005t0081g0146 a0003c0005t0081g0146	1	322	0.0031	30	c.10 others(43): Show c.10304_*10305insACATATATATATATATATATATATATATAT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3547		chr5	TogoVar
ITGA2B_chr17_44367181_44394649	44368119	A A	AATATATA others(23): Show AATATATATATATATATATATATAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	354	0.0028	30	c.42 others(41): Show c.4244_*4245insATATATTTATATATATATATATATATATAT	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4061		chr17	TogoVar
ITGA8_chr10_15508954_15724922	15697046	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0039 a0004c0024t0039	a0004c0024t0039g0212 a0004c0024t0039g0212	1	220	0.0046	30	c.344 others(47): Show c.344-9009_344-9008insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGAE_chr17_3709628_3806188	3730454	A A	AAAAAAAA others(23): Show AAAAAAAAATAAAATAAAAAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	302	0.0033	30	c.283 others(47): Show c.2834+649_2834+650insATTTATTTATTTTTTTATTTTATTTTTT TT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	23/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3796170	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0275 a0005c0005t0001g0275	1	302	0.0033	30	c.34+ others(45): Show c.34+4940_34+4941insACACACACACACACACACACACACACACAC	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAL_chr16_30467742_30528185	30493245	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0299 a0001c0005t0004g0299	1	318	0.0031	30	c.121 others(47): Show c.1214-957_1214-928dupTATTTTATTTTATTTTATTTTATTTTAT TT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	11/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499709	A A	ATGTATAT others(23): Show ATGTATATATATATGTGTATATATATATACG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	318	0.0031	30	c.214 others(47): Show c.2145+221_2145+222insGTATATATATATGTGTATATATATATAC GT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499711	A A	ATATGTAT others(23): Show ATATGTATATATATGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	318	0.0031	30	c.214 others(47): Show c.2145+223_2145+224insATGTATATATATGTGTATATATATATAT GT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499713	G G	GTATATAT others(23): Show GTATATATATATGTGTATATATATATACGTA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	318	0.0031	30	c.214 others(47): Show c.2145+235_2145+236insGTGTATATATATATACGTATATATATAT AT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499713	G G	GTATATAT others(23): Show GTATATATATGTGTATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG03490.hp1 HG00280.hp2 HG00639.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0215 a0001c0001t0001g0281 a0001c0001t0001g0112 a0001c0001t0001g0215 a0001c0001t0001g0281	3	318	0.0094	30	c.214 others(47): Show c.2145+233_2145+234insGTGTATATATATATATGTGTATATATAT AT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATACATAT others(23): Show ATACATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0315 a0002c0003t0001g0315	1	318	0.0031	30	c.214 others(47): Show c.2145+245_2145+246insACATATATATATATATATATATTTTTTT TT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATACGTAT others(23): Show ATACGTATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0272 a0002c0008t0001g0272	1	318	0.0031	30	c.214 others(47): Show c.2145+245_2145+246insACGTATATATATATATATATATATTTTT TT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATATGTAT others(23): Show ATATGTATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0229 a0002c0008t0001g0229	1	318	0.0031	30	c.214 others(47): Show c.2145+245_2145+246insATGTATATATATATATATATTTTTTTTT TT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31258303	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0004 a0007c0012t0004	a0007c0012t0004g0164 a0007c0012t0004g0164	1	244	0.0041	30	c.-17 others(41): Show c.-1762_-1761insTATATATATATATATATATATATTTTTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1671		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31258303	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0159 a0001c0005t0004g0159	1	244	0.0041	30	c.-17 others(41): Show c.-1762_-1761insTATATATATATATATATATATTTTTTTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1671		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270699	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0055 a0001c0002t0002g0057	2	244	0.0082	30	c.428 others(45): Show c.428-254_428-253insGTATATATATATATATATATATATATATAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302396	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03098.hp1 NA20752.hp2 HG00099.hp1 HG03098.hp1 NA20752.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0036 a0003c0004t0005g0051 a0003c0004t0005g0079 a0003c0004t0005g0036 a0003c0004t0005g0051 a0003c0004t0005g0079	3	244	0.0123	30	c.170 others(49): Show c.1707+4444_1707+4445insCTTTCTTTCTTTCTTTCTTTCTTCTT TCTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB1_chr10_32895318_32963230	32947432	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04199.hp2 NA18949.hp2 others(1): Show HG02735.hp1 HG04199.hp2 NA18949.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 others(1): Show a0001c0001t0003g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0365	4	424	0.0094	30	c.-1+ others(47): Show c.-1+10683_-1+10712dupACACACACACACACACACACACACACAC AC	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding	1/15			chr10	TogoVar
ITGB3_chr17_47248827_47318743	47300346	C C	CGCGCGCG others(23): Show CGCGCGCGCGCGTGCGTGCATGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0228 a0001c0002t0009g0228	1	370	0.0027	30	c.191 others(47): Show c.1914-131_1914-130insCGCGCGCGCGTGCGTGCATGTGTGTGTG TG	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB5_chr3_124756948_124892365	124800610	G G	GCCTGATA others(23): Show GCCTGATAACCAGAGAATGTTCTGTCAGATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0316 a0001c0002t0005g0316	1	352	0.0028	30	c.126 others(49): Show c.1264-3794_1264-3793insAATCTGACAGAACATTCTCTGGTTAT CAGG	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	9/14			chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(23): Show TATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0163 a0001c0003t0001g0163	1	306	0.0033	30	c.101 others(49): Show c.1015+6589_1015+6590insTATATACACACACACACACACACACA CACA	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(23): Show TATATATATATGTATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	306	0.0033	30	c.101 others(49): Show c.1015+6589_1015+6590insTATATATATGTATATATATATATACA CACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATG others(23): Show TATATATGTATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0186 a0001c0005t0001g0186	1	306	0.0033	30	c.101 others(49): Show c.1015+6589_1015+6590insTATATGTATATATATATATACACACA CACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101606174	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	306	0.0033	30	c.101 others(49): Show c.1015+7893_1015+7894insTATATATATATATATATATATATATA TATA	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(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02818.hp1 NA18747.hp1 others(5): Show HG00408.hp2 HG02818.hp1 NA18747.hp1 NA18980.hp2 NA18986.hp1 NA19060.hp1 NA19068.hp2 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0017 a0001c0003 a0006c0017	a0001c0003t0001 a0006c0017t0001 a0001c0003t0001 a0006c0017t0001	a0001c0003t0001g0002 a0001c0003t0001g0014 a0001c0003t0001g0056 others(4): Show a0001c0003t0001g0002 a0001c0003t0001g0014 a0001c0003t0001g0056 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0100 a0006c0017t0001g0088	8	306	0.0261	30	c.101 others(49): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737642	A A	AATATTCT others(23): Show AATATTCTATATATTCTATAGAATATTCTAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp1 HG02145.hp1 HG02818.hp1	a0007 a0007	a0007c0010 a0007c0016 a0007c0010 a0007c0016	a0007c0010t0001 a0007c0016t0001 a0007c0010t0001 a0007c0016t0001	a0007c0010t0001g0259 a0007c0016t0001g0016 a0007c0010t0001g0259 a0007c0016t0001g0016	2	380	0.0053	30	c.195 others(47): Show c.1958-968_1958-967insATTCTATAGAATATTCTATATATTCTAT AT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7753812	G G	GCCATCAT others(23): Show GCCATCATCCTATTAGTATTTCTGCTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0286 a0001c0002t0001g0286	1	380	0.0026	30	c.44 others(41): Show c.4478_*4479insCCATCATCCTATTAGTATTTCTGCTTCTGC	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding		4293		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7624807	A A	ATATATAC others(23): Show ATATATACACATATATATGTGTATATACATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0013 a0013	a0013c0085 a0013c0085	a0013c0085t0003 a0013c0085t0003	a0013c0085t0003g0291 a0013c0085t0003g0291	1	342	0.0029	30	c.653 others(47): Show c.653-7555_653-7526dupCATGTATATACACATATATATGTGTATA TA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar

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