Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	308	0.0033	28	c.243 others(45): Show c.2433+441_2433+442insATATATATATATATATATATATATTTTT	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(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18960.hp1 NA20752.hp1 HG01952.hp2 NA18960.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0223 a0001c0001t0001g0266 a0001c0001t0001g0194 a0001c0001t0001g0223 a0001c0001t0001g0266	3	308	0.0097	28	c.243 others(45): Show c.2433+441_2433+442insATATATATATATATATATATTTTTTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB1_chr10_32895318_32963230	32947432	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19060.hp2 NA19074.hp1 HG03831.hp1 NA19060.hp2 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0159 a0001c0004t0001g0164 a0001c0004t0001g0173 a0001c0004t0001g0159 a0001c0004t0001g0164 a0001c0004t0001g0173	3	424	0.0071	28	c.-1+ others(45): Show c.-1+10685_-1+10712dupACACACACACACACACACACACACACAC	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding	1/15			chr10	TogoVar
ITGB3_chr17_47248827_47318743	47272679	T T	TTCTTTTT others(21): Show TTCTTTTTTTTTCTTTCTTTCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0229 a0001c0002t0009g0229	1	370	0.0027	28	c.80- others(43): Show c.80-1739_80-1738insCTTTTTTTTTCTTTCTTTCTTTCCTTCT	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB3_chr17_47248827_47318743	47290448	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0048 a0007c0009t0002g0048	1	370	0.0027	28	c.112 others(45): Show c.1125+198_1125+199insGAAGGAAGGAAGGAAGGAAGGAAGGAAG	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB3_chr17_47248827_47318743	47300346	C C	CGCGCGCG others(21): Show CGCGCGCGCGTGCGTGCATGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp1 HG03540.hp1 HG02922.hp1 HG03041.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0023 a0001c0002t0009g0229 a0001c0002t0009g0023 a0001c0002t0009g0229	3	370	0.0081	28	c.191 others(45): Show c.1914-131_1914-130insCGCGCGCGTGCGTGCATGTGTGTGTGTG	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01515.hp1 others(3): Show HG00735.hp1 HG01074.hp1 HG01515.hp1 HG03453.hp2 NA18522.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0009 a0004c0005 others(1): Show a0001c0001 a0001c0009 a0004c0005 a0005c0010	a0001c0001t0002 a0001c0009t0002 a0004c0005t0008 others(1): Show a0001c0001t0002 a0001c0009t0002 a0004c0005t0008 a0005c0010t0004	a0001c0001t0002g0248 a0001c0009t0002g0319 a0004c0005t0008g0304 others(3): Show a0001c0001t0002g0248 a0001c0009t0002g0319 a0004c0005t0008g0304 a0004c0005t0008g0305 a0005c0010t0004g0349 a0005c0010t0004g0350	6	352	0.0171	28	c.112 others(47): Show c.1129-1780_1129-1753dupGAAAGAAAGAAAGAAAGAAAGAAAGA AA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATACACA others(21): Show TATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19056.hp1 HG03927.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0177 a0001c0003t0001g0297 a0001c0001t0001g0177 a0001c0003t0001g0297	2	306	0.0065	28	c.101 others(47): Show c.1015+6589_1015+6590insTACACACACACACACACACACACACA CA	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(21): Show TATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	306	0.0033	28	c.101 others(47): Show c.1015+6589_1015+6590insTATACACACACACACACACACACACA CA	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(21): Show TATATATATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01255.hp2 HG01069.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0115 a0001c0002t0001g0238 a0001c0001t0001g0115 a0001c0002t0001g0238	2	306	0.0065	28	c.101 others(47): Show c.1015+6589_1015+6590insTATATATATGTATATATATATATACA CA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATGTATA others(21): Show TATGTATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	306	0.0033	28	c.101 others(47): Show c.1015+6589_1015+6590insTGTATATATATATATACACACACACA CA	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(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02451.hp2 HG03927.hp1 others(4): Show HG02074.hp2 HG02451.hp2 HG03927.hp1 NA18969.hp1 NA18977.hp1 NA19010.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0001c0016 others(1): Show a0001c0003 a0001c0006 a0001c0016 a0002c0007	a0001c0003t0001 a0001c0006t0001 a0001c0016t0001 others(1): Show a0001c0003t0001 a0001c0006t0001 a0001c0016t0001 a0002c0007t0001	a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0006t0001g0224 others(3): Show a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0006t0001g0224 a0001c0016t0001g0260 a0002c0007t0001g0001 a0002c0007t0001g0065	7	306	0.0229	28	c.101 others(47): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7701183	G G	GCTGTTGT others(21): Show GCTGTTGTTTTGTTTTGTTTTGTTTTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0001 a0003c0025t0001	a0003c0025t0001g0372 a0003c0025t0001g0372	1	380	0.0026	28	c.-22 others(39): Show c.-2252_-2251insCTGTTGTTTTGTTTTGTTTTGTTTTGTT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding		2132		chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737665	T T	TTCTATAG others(21): Show TTCTATAGAATATTATATATTATATTCTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	380	0.0026	28	c.195 others(45): Show c.1958-955_1958-954insCTATAGAATATTATATATTATATTCTAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644900	C C	CATATATA others(21): Show CATATATATATCACATATATATATCACAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18943.hp1 NA18971.hp1 HG00558.hp1 NA18943.hp1 NA18971.hp1	a0003 a0009 a0037 a0003 a0009 a0037	a0003c0002 a0009c0027 a0037c0071 a0003c0002 a0009c0027 a0037c0071	a0003c0002t0002 a0009c0027t0001 a0037c0071t0001 a0003c0002t0002 a0009c0027t0001 a0037c0071t0001	a0003c0002t0002g0207 a0009c0027t0001g0208 a0037c0071t0001g0209 a0003c0002t0002g0207 a0009c0027t0001g0208 a0037c0071t0001g0209	3	342	0.0088	28	c.136 others(45): Show c.136-2838_136-2811dupATGTGATATATATATGTGATATATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13			chr10	TogoVar
ITPR2_chr12_26330352_26838194	26772491	C C	CATGTATT others(21): Show CATGTATTATATATATAATACATTATTAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01070.hp1 others(10): Show HG00323.hp2 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG03017.hp2 HG03492.hp1 NA20752.hp2	a0001 a0001	a0001c0013 a0001c0025 a0001c0026 others(7): Show a0001c0013 a0001c0025 a0001c0026 a0001c0027 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0064 a0001c0065	a0001c0013t0022 a0001c0025t0024 a0001c0025t0051 others(9): Show a0001c0013t0022 a0001c0025t0024 a0001c0025t0051 a0001c0026t0053 a0001c0027t0055 a0001c0027t0056 a0001c0054t0023 a0001c0055t0008 a0001c0056t0001 a0001c0057t0002 a0001c0064t0008 a0001c0065t0024	a0001c0013t0022g0120 a0001c0013t0022g0129 a0001c0025t0024g0139 others(10): Show a0001c0013t0022g0120 a0001c0013t0022g0129 a0001c0025t0024g0139 a0001c0025t0051g0133 a0001c0026t0053g0142 a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0054t0023g0136 a0001c0055t0008g0059 a0001c0056t0001g0017 a0001c0057t0002g0054 a0001c0064t0008g0024 a0001c0065t0024g0141	13	142	0.0916	28	c.163 others(47): Show c.163+17665_163+17666insATAATAATGTATTATATATATAATAC AT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26802552	T T	TATATATC others(21): Show TATATATCTATATATAGATATAGATATAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03704.hp2 NA18522.hp1 others(1): Show HG02132.hp1 HG03704.hp2 NA18522.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0044	a0001c0001t0003 a0001c0006t0026 a0001c0007t0002 others(1): Show a0001c0001t0003 a0001c0006t0026 a0001c0007t0002 a0001c0044t0001	a0001c0001t0003g0074 a0001c0006t0026g0002 a0001c0007t0002g0066 others(1): Show a0001c0001t0003g0074 a0001c0006t0026g0002 a0001c0007t0002g0066 a0001c0044t0001g0067	4	142	0.0282	28	c.93- others(45): Show c.93-12353_93-12326dupCTATATCTATATCTATATATAGATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CCATATAT others(21): Show CCATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0182 a0002c0001t0003g0182	1	312	0.0032	28	c.-98 others(45): Show c.-98+5500_-98+5501insCATATATATATATATATATATATATATA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14			chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCCATAT others(21): Show CTCCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0187 a0002c0001t0003g0187	1	312	0.0032	28	c.-98 others(45): Show c.-98+5501_-98+5502insCCATATATATATATATATATATATATAT	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(21): Show CTCTCCATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0191 a0002c0001t0007g0191	1	312	0.0032	28	c.-98 others(45): Show c.-98+5501_-98+5502insCTCCATATATATATATATATATATATAT	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(21): Show CTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01978.hp1 HG01074.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0167 a0001c0002t0002g0101 a0001c0002t0002g0167	2	312	0.0064	28	c.-98 others(45): Show c.-98+5501_-98+5502insCTCTATATATATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCC others(21): Show CTCTCTCCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18990.hp2 NA19081.hp2 HG01257.hp1 NA18990.hp2 NA19081.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0003c0007 a0002c0001 a0003c0005 a0003c0007	a0002c0001t0002 a0003c0005t0003 a0003c0007t0003 a0002c0001t0002 a0003c0005t0003 a0003c0007t0003	a0002c0001t0002g0197 a0003c0005t0003g0196 a0003c0007t0003g0198 a0002c0001t0002g0197 a0003c0005t0003g0196 a0003c0007t0003g0198	3	312	0.0096	28	c.-98 others(45): Show c.-98+5501_-98+5502insCTCTCCATATATATATATATATATATAT	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(21): Show CTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	312	0.0032	28	c.-98 others(45): Show c.-98+5501_-98+5502insCTCTCTATATATATATATATATATATAT	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(21): Show CTCTCTCTCCATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0003 a0016c0020t0003	a0016c0020t0003g0208 a0016c0020t0003g0208	1	312	0.0032	28	c.-98 others(45): Show c.-98+5501_-98+5502insCTCTCTCCATATATATATATATATATAT	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(21): Show CTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0046 a0002c0001t0007g0046	1	312	0.0032	28	c.-98 others(45): Show c.-98+5501_-98+5502insCTCTCTCTATATATATATATATATATAT	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(21): Show CTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0021 a0021	a0021c0044 a0021c0044	a0021c0044t0002 a0021c0044t0002	a0021c0044t0002g0123 a0021c0044t0002g0123	1	312	0.0032	28	c.-98 others(45): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTCTCTATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31617445	T T	TTAATTAA others(21): Show TTAATTAAAAGAAAATGTGAATTAGTATA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0060 a0001c0011t0002g0060	1	312	0.0032	28	c.122 others(49): Show c.1229-24730_1229-24703dupTAATTAAAAGAAAATGTGAATTAG TATA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIP_chr10_104304700_104343465	104309305	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 NA19000.hp1 NA19000.hp2 HG02647.hp1 NA19000.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0015 a0001c0001t0003g0170 a0001c0001t0014g0043 a0001c0001t0003g0015 a0001c0001t0003g0170 a0001c0001t0014g0043	3	324	0.0093	28	c.51 others(39): Show c.5102_*5103insATATATATATATATATATATATATATAT	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		394		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690775	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0222 a0001c0001t0027g0222	1	242	0.0041	28	c.-32 others(47): Show c.-32-28008_-32-28007insTATATATATATATATATATATATATA TA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33690815	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	242	0.0041	28	c.-32 others(47): Show c.-32-27959_-32-27958insATGTATATATATATATATATATATAT AT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(21): Show AATATATATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG02630.hp1 others(3): Show HG00642.hp1 HG01123.hp2 HG02630.hp1 HG03942.hp1 NA18945.hp1 NA19002.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0004c0004t0004 a0002c0002t0001 a0004c0004t0001 a0004c0004t0004	a0002c0002t0001g0165 a0002c0002t0001g0188 a0004c0004t0001g0005 others(3): Show a0002c0002t0001g0165 a0002c0002t0001g0188 a0004c0004t0001g0005 a0004c0004t0001g0009 a0004c0004t0001g0029 a0004c0004t0004g0008	6	224	0.0268	28	c.-33 others(45): Show c.-33-9201_-33-9200insATATATATATATGTATATATATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
IVNS1ABP_chr1_185291388_185322243	185292366	C C	CTTTTTCC others(21): Show CTTTTTCCCTCTCCCTTCTTTGTTGCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	380	0.0026	28	c.56 others(39): Show c.5668_*5669insAAAGCAACAAAGAAGGGAGAGGGAAAAA	IVNS1ABP	ENSG00000116679.16	transcript	ENST00000367498.8	protein_coding		4021		chr1	TogoVar
IZUMO4_chr19_2091915_2104590	2104518	G G	GCCAAGAC others(21): Show GCCAAGACACCAACACCCAGACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	454	0.0022	28	c.51 others(39): Show c.5173_*5174insCCAAGACACCAACACCCAGACCCCAACA	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		4929		chr19	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	326	0.0031	28	c.-77 others(47): Show c.-77-16243_-77-16242insACTCTCTCTCTCTCTCTCTCTCTCTC TC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG02886.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0214 a0001c0001t0014g0267 a0001c0001t0002g0214 a0001c0001t0014g0267	2	326	0.0061	28	c.-77 others(47): Show c.-77-16243_-77-16242insACACTCTCTCTCTCTCTCTCTCTCTC TC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64913641	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAAGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03130.hp1 HG03453.hp2 HG02015.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0014 a0001c0002 a0001c0003 a0001c0014	a0001c0002t0001 a0001c0003t0001 a0001c0014t0002 a0001c0002t0001 a0001c0003t0001 a0001c0014t0002	a0001c0002t0001g0311 a0001c0003t0001g0326 a0001c0014t0002g0038 a0001c0002t0001g0311 a0001c0003t0001g0326 a0001c0014t0002g0038	3	326	0.0092	28	c.-77 others(47): Show c.-77-27301_-77-27300insTCCTTCCTTCTTTCCTTCCTTCCTTC CT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64913655	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	326	0.0031	28	c.-77 others(47): Show c.-77-27315_-77-27314insCTTCCTTCTTTCCTTCCTTCCTTCCT TC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64913705	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAAGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG02257.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0263 a0001c0002t0001g0258 a0001c0002t0001g0263	2	326	0.0061	28	c.-77 others(47): Show c.-77-27365_-77-27364insCCCTCCCTTCTTTCCTTCCTTCCTTC CT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64913705	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAAGAAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0320 a0001c0002t0002g0320	1	326	0.0031	28	c.-77 others(47): Show c.-77-27365_-77-27364insCCCTTCTTTCCTTCCTTCCTTCCTTC CT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 NA18522.hp1 HG01884.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0006 a0001c0004t0006g0039 a0001c0004t0006g0006 a0001c0004t0006g0039	2	364	0.0055	28	c.46 others(39): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		1488		chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6080984	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp2 HG02622.hp1 HG01255.hp2 HG02451.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0142 a0001c0001t0001g0196 a0001c0002t0001g0144 a0001c0001t0001g0142 a0001c0001t0001g0196 a0001c0002t0001g0144	3	233	0.0129	28	c.110 others(45): Show c.1101+597_1101+624dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	6/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6183478	C C	CAATAAAT others(21): Show CAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	233	0.0043	28	c.-14 others(49): Show c.-148+16747_-148+16774dupTATTTATTTATTTATTTATTTATT TATT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147618387	C C	CTTTTTAG others(21): Show CTTTTTAGAAAGCCCTCGCTTTGTTATAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00673.hp2 others(34): Show HG00544.hp1 HG00597.hp2 HG00673.hp2 HG01884.hp1 HG02083.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02809.hp2 HG02976.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18953.hp2 NA18959.hp2 NA18963.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA19002.hp1 NA19004.hp1 NA19056.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0001c0018 others(1): Show a0001c0003 a0001c0005 a0001c0018 a0003c0011	a0001c0003t0001 a0001c0003t0012 a0001c0003t0014 others(16): Show a0001c0003t0001 a0001c0003t0012 a0001c0003t0014 a0001c0003t0018 a0001c0003t0025 a0001c0003t0031 a0001c0003t0034 a0001c0003t0068 a0001c0003t0069 a0001c0003t0072 a0001c0003t0073 a0001c0003t0074 a0001c0003t0075 a0001c0005t0004 a0001c0005t0017 a0001c0005t0027 a0001c0018t0032 a0003c0011t0012 a0003c0011t0076	a0001c0003t0001g0006 a0001c0003t0012g0033 a0001c0003t0012g0128 others(34): Show a0001c0003t0001g0006 a0001c0003t0012g0033 a0001c0003t0012g0128 a0001c0003t0012g0129 a0001c0003t0014g0214 a0001c0003t0014g0222 a0001c0003t0014g0223 a0001c0003t0014g0248 a0001c0003t0018g0210 a0001c0003t0018g0220 a0001c0003t0018g0243 a0001c0003t0025g0179 a0001c0003t0025g0183 a0001c0003t0031g0097 a0001c0003t0034g0159 a0001c0003t0068g0175 a0001c0003t0069g0180 a0001c0003t0072g0184 a0001c0003t0073g0186 a0001c0003t0074g0228 a0001c0003t0075g0230 a0001c0005t0004g0003 a0001c0005t0004g0037 a0001c0005t0004g0043 a0001c0005t0004g0044 a0001c0005t0004g0045 a0001c0005t0004g0057 a0001c0005t0004g0066 a0001c0005t0004g0162 a0001c0005t0017g0188 a0001c0005t0017g0189 a0001c0005t0017g0190 a0001c0005t0027g0191 a0001c0005t0027g0193 a0001c0018t0032g0158 a0003c0011t0012g0056 a0003c0011t0076g0225	37	250	0.1480	28	c.214 others(45): Show c.2143-274_2143-273insTTATAACAAAGCGAGGGCTTTCTAAAAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	18/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132142490	G G	GCCCCGGC others(21): Show GCCCCGGCCCCTCTCCCCCGGCCCCTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0039 a0002c0031t0039	a0002c0031t0039g0088 a0002c0031t0039g0088	1	158	0.0063	28	c.160 others(45): Show c.1602+464_1602+465insCCTCTCCCCCGGCCCCTCTCCCCCGGCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132158940	G G	GTGGGAGG others(21): Show GTGGGAGGGGCATCTTCCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG02280.hp2 others(1): Show HG01109.hp2 HG01361.hp1 HG02280.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0015 a0001c0017 a0002c0005 a0001c0015 a0001c0017 a0002c0005	a0001c0015t0005 a0001c0017t0005 a0002c0005t0005 others(1): Show a0001c0015t0005 a0001c0017t0005 a0002c0005t0005 a0002c0005t0019	a0001c0015t0005g0140 a0001c0017t0005g0079 a0002c0005t0005g0130 others(1): Show a0001c0015t0005g0140 a0001c0017t0005g0079 a0002c0005t0005g0130 a0002c0005t0019g0138	4	158	0.0253	28	c.222 others(47): Show c.2221-4269_2221-4268insTGGGAGGGGCATCTTCCTGTGTGATG CT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132158940	G G	GTGGGAGG others(21): Show GTGGGAGGGGCATCTTCCTTTGTGATGCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0154 a0001c0006t0017g0154	1	158	0.0063	28	c.222 others(47): Show c.2221-4269_2221-4268insTGGGAGGGGCATCTTCCTTTGTGATG CT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159663	G G	GCTGCGGG others(21): Show GCTGCGGGGGGGTCTATTCCTGTGTCTTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0031 a0004c0014t0031	a0004c0014t0031g0150 a0004c0014t0031g0150	1	158	0.0063	28	c.222 others(47): Show c.2221-3543_2221-3542insCGGGGGGGTCTATTCCTGTGTCTTAC TG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159794	T T	TGGGGGGG others(21): Show TGGGGGGGGTCTATTCCTGTGTCTTACTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp2 HG02258.hp2 HG03540.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0061 a0002c0005t0010g0095 a0002c0005t0010g0061 a0002c0005t0010g0095	2	158	0.0127	28	c.222 others(47): Show c.2221-3409_2221-3408insGGTCTATTCCTGTGTCTTACTGGGGG GG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160443	C C	CAGGCGGT others(21): Show CAGGCGGTGGCCTCTTCCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp2 HG02965.hp1 others(2): Show HG02630.hp2 HG02895.hp2 HG02965.hp1 HG03225.hp2 NA19043.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0032 a0004c0014 others(2): Show a0001c0001 a0001c0032 a0004c0014 a0004c0030 a0009c0044	a0001c0001t0003 a0001c0032t0037 a0004c0014t0031 others(2): Show a0001c0001t0003 a0001c0032t0037 a0004c0014t0031 a0004c0030t0030 a0009c0044t0002	a0001c0001t0003g0102 a0001c0032t0037g0124 a0004c0014t0031g0150 others(2): Show a0001c0001t0003g0102 a0001c0032t0037g0124 a0004c0014t0031g0150 a0004c0030t0030g0084 a0009c0044t0002g0031	5	158	0.0317	28	c.222 others(47): Show c.2221-2766_2221-2765insAGGCGGTGGCCTCTTCCTGTGTGATG CT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160547	T T	TGGTGGGG others(21): Show TGGTGGGGGTCTACTTCTATGTCTTACTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 NA20805.hp2 HG01069.hp1 HG01243.hp2 NA20805.hp2	a0002 a0004 a0002 a0004	a0002c0005 a0002c0037 a0004c0011 a0002c0005 a0002c0037 a0004c0011	a0002c0005t0001 a0002c0037t0001 a0004c0011t0001 a0002c0005t0001 a0002c0037t0001 a0004c0011t0001	a0002c0005t0001g0016 a0002c0037t0001g0139 a0004c0011t0001g0118 a0002c0005t0001g0016 a0002c0037t0001g0139 a0004c0011t0001g0118	3	158	0.0190	28	c.222 others(47): Show c.2221-2660_2221-2659insTGGGGGTCTACTTCTATGTCTTACTG GG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar

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