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
IQCJ_chr3_159064319_159268747	159114251	T T	TTGTATCT others(45): Show TTGTATCTCACACCTATCAGTGACATAGGTTTAATTTCACACAAGACTTC TTG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	252	0.0040	52	c.9+4 others(67): Show c.9+44822_9+44823insCTATCAGTGACATAGGTTTAATTTCACACA AGACTTCTTGTGTATCTCACAC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCM_chr4_149346709_149820843	149368888	A A	ATACATAT others(45): Show ATACATATATACACGTGTATATATATGTATATATATACACGTGTATATAT ATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02145.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0185 a0001c0001t0001g0060 a0001c0001t0001g0185	2	252	0.0079	52	c.139 others(73): Show c.1391-16823_1391-16822insCATATATATACACGTGTATATATA TACATATATATACACGTGTATATATGTA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQSEC3_chr12_61767_183455	131036	C C	CCGCGATC others(45): Show CCGCGATCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCCCCCCACA CCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp1 NA18747.hp1 others(4): Show HG02040.hp2 HG02080.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18959.hp2	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0004 a0001c0007 a0004c0010 others(1): Show a0001c0004 a0001c0007 a0004c0010 a0013c0063	a0001c0004t0001 a0001c0004t0037 a0001c0007t0001 others(2): Show a0001c0004t0001 a0001c0004t0037 a0001c0007t0001 a0004c0010t0001 a0013c0063t0027	a0001c0004t0001g0109 a0001c0004t0001g0235 a0001c0004t0037g0208 others(4): Show a0001c0004t0001g0109 a0001c0004t0001g0235 a0001c0004t0037g0208 a0001c0007t0001g0075 a0001c0007t0001g0117 a0004c0010t0001g0212 a0013c0063t0027g0272	7	282	0.0248	52	c.903 others(69): Show c.903+5125_903+5126insGCGATCCTCAGCACTGTGCCCCCCAGCT AGCGGCTCTTCCCCCCCACACCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0073 a0002c0003t0003g0073	1	278	0.0036	52	c.67+ others(69): Show c.67+13167_67+13168insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCTTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(45): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCACACACACACACACACAC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	420	0.0024	52	c.-39 others(63): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCACA CACACACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(45): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCACACACACACACACAC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03579.hp1 HG03041.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0113 a0001c0001t0006g0002 a0001c0001t0006g0113	2	420	0.0048	52	c.-39 others(63): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCA CACACACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(45): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCGCACACACACACACAC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	420	0.0024	52	c.-39 others(63): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCG CACACACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(45): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCGCGCACACACACACAC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0323 a0001c0001t0007g0323	1	420	0.0024	52	c.-39 others(63): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCG CGCACACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(45): Show GCATGTGTGTGCGTGCGCGCGCGCGCGCGCGCGCGCGCGCGCACACACAC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0333 a0001c0001t0007g0333	1	420	0.0024	52	c.-39 others(63): Show c.-3996_-3995insCATGTGTGTGCGTGCGCGCGCGCGCGCGCGCGCG CGCGCGCACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IRF4_chr6_386752_416443	396715	T T	TTATCTCA others(45): Show TTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCAATGCCAGTGCT TCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG02015.hp1 others(6): Show HG00408.hp2 HG00438.hp1 HG02015.hp1 HG02155.hp1 HG02523.hp1 NA18963.hp2 NA19004.hp2 NA19066.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0221 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0221	9	460	0.0196	52	c.493 others(67): Show c.493-365_493-314dupCCCCCGTCTCAATGCCAGTGCTTCCTATCT CAGCCTCTCCTGCACTCCTTTA	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
IRF4_chr6_386752_416443	396923	C C	CTATCTCA others(45): Show CTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCGATGCCAGTGCT TCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(37): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00741.hp2 HG01257.hp2 HG01891.hp1 HG02015.hp1 HG02132.hp2 HG02155.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG03098.hp2 HG03540.hp2 HG06807.hp2 NA18943.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18959.hp1 NA18963.hp2 NA18978.hp1 NA18980.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18999.hp1 NA19004.hp2 NA19012.hp1 NA19058.hp1 NA19066.hp2 NA19081.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0038 a0001c0001t0046 a0001c0001t0060 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0076 a0001c0001t0001g0178 a0001c0001t0001g0196 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0002g0019 a0001c0001t0003g0117 a0001c0001t0003g0228 a0001c0001t0008g0013 a0001c0001t0012g0118 a0001c0001t0015g0009 a0001c0001t0017g0019 a0001c0001t0038g0019 a0001c0001t0046g0193 a0001c0001t0060g0013 a0001c0004t0001g0042	40	460	0.0870	52	c.493 others(66): Show c.493-133_493-82dupTTATCTCAGCCTCTCCTGCACTCCTTTACCC CCGTCTCGATGCCAGTGCTTC	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
IRF4_chr6_386752_416443	396961	G G	GATGCCAG others(45): Show GATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTC TCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp1 NA19240.hp1 HG02145.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	3	460	0.0065	52	c.493 others(65): Show c.493-96_493-95insAATGCCAGTGCTTCTTATCTCAGCCTCTCCTG CACTCCTTTACCCCCGTCTC	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
IRX6_chr16_55319203_55335756	55325482	G G	GGAAAGAA others(45): Show GGAAAGAAAGAAATAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02602.hp1 NA19086.hp2 HG00609.hp1 HG02602.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0116 a0001c0001t0002g0045 a0001c0001t0002g0116	3	448	0.0067	52	c.45+ others(65): Show c.45+349_45+350insAGAAAGAAATAAGGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRX6_chr16_55319203_55335756	55325530	G G	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	448	0.0022	52	c.45+ others(65): Show c.45+396_45+397insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAGAGA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
ISCU_chr12_108557596_108574368	108572541	T T	TGTGCGCA others(45): Show TGTGCGCACTTTGATTTAGCTGTCCTCAAACTGACCCTTTGCTCATTAAA AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	446	0.0022	52	c.36 others(63): Show c.3625_*3626insGTGCGCACTTTGATTTAGCTGTCCTCAAACTGAC CCTTTGCTCATTAAAAGA	ISCU	ENSG00000136003.16	transcript	ENST00000311893.14	protein_coding		3174		chr12	TogoVar
ITGA11_chr15_68291532_68437163	68396933	T T	TACAATAT others(45): Show TACAATATATTATTTATTATATAATATATTATATATTATTTATTATATAA TAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03669.hp2 HG01106.hp2 HG03669.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0032 a0001c0001 a0005c0032	a0001c0001t0009 a0005c0032t0001 a0001c0001t0009 a0005c0032t0001	a0001c0001t0009g0151 a0005c0032t0001g0202 a0001c0001t0009g0151 a0005c0032t0001g0202	2	242	0.0083	52	c.164 others(69): Show c.164+5984_164+5985insTTATTATATAATAAATAATATATAATAT ATTATATAATAAATAATATATTGT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400869	T T	ATATATAT others(45): Show ATATATATTATATAATAAATATTATAATATATATTATATAATAAATATAA TAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02132.hp1 NA18953.hp2 HG02056.hp1 HG02132.hp1 NA18953.hp2	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0009 a0005c0015 a0007c0006 a0003c0009 a0005c0015 a0007c0006	a0003c0009t0014 a0005c0015t0093 a0007c0006t0053 a0003c0009t0014 a0005c0015t0093 a0007c0006t0053	a0003c0009t0014g0218 a0005c0015t0093g0205 a0007c0006t0053g0110 a0003c0009t0014g0218 a0005c0015t0093g0205 a0007c0006t0053g0110	3	242	0.0124	52	c.164 others(69): Show c.164+2049_164+2050insTATTATATTTATTATATAATATATATTA TAATATTTATTATATAATATATAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400917	T T	TATAATAT others(45): Show TATAATATTATATATTATATAATAAATATTATAATATTATATATTATATA ATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0082 a0004c0082	a0004c0082t0092 a0004c0082t0092	a0004c0082t0092g0027 a0004c0082t0092g0027	1	242	0.0041	52	c.164 others(69): Show c.164+2000_164+2001insTATTATATAATATATAATATTATAATAT TTATTATATAATATATAATATTAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406007	C C	CAGTCTTC others(45): Show CAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACA TCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0224 a0001c0001t0224	a0001c0001t0224g0244 a0001c0001t0224g0244	1	276	0.0036	52	c.77 others(61): Show c.775_*826dupAGATGTCACAGAGGTCCACTCAGTGACACACACTGA AGGCCTGAGGAAGACT	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	826		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406008	A A	AGTCTTCC others(45): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0082 a0001c0001t0121g0082	1	276	0.0036	52	c.77 others(61): Show c.774_*825dupGAGATGTCACAGAGGTCCACTCAGTGACACACACTG AAGGCCTGAGGAAGAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	825		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406143	T T	TTGTCACT others(45): Show TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0204 a0001c0001t0204	a0001c0001t0204g0139 a0001c0001t0204g0139	1	276	0.0036	52	c.69 others(61): Show c.690_*691insCACACTGAAGGCCTGAGGAAGACGAGATGTCACAGA GGTCCACTCAGTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	690		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406172	A A	AGTCTTCC others(45): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0231 a0001c0001t0231	a0001c0001t0231g0047 a0001c0001t0231g0047	1	276	0.0036	52	c.66 others(61): Show c.661_*662insGAGATGTCACAGAGGTCCACTCAGTGACACACACTG AAGGCCTGAGGAAGAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	661		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406191	G G	GTGTGTGT others(45): Show GTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTT CAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0225 a0001c0001t0225	a0001c0001t0225g0194 a0001c0001t0225g0194	1	276	0.0036	52	c.64 others(61): Show c.642_*643insTTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTC CACTCAGTGACACACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	642		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406228	C C	CGTCTTCC others(45): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG02257.hp2 HG00733.hp2 HG01106.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0160 a0001c0001t0178 a0001c0001t0204 a0001c0001t0160 a0001c0001t0178 a0001c0001t0204	a0001c0001t0160g0199 a0001c0001t0178g0024 a0001c0001t0204g0139 a0001c0001t0160g0199 a0001c0001t0178g0024 a0001c0001t0204g0139	3	276	0.0109	52	c.60 others(61): Show c.605_*606insTAGATGTCACAGAGGTCCACTCAGTGACACACACTG AAGGCCTGAGGAAGAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	605		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406340	A A	AGTCTTCC others(45): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0050 a0001c0001t0134g0050	1	276	0.0036	52	c.49 others(61): Show c.493_*494insGAGATGTCACAGAGGTCCACTCAGTGACACACACTG AAGGCCTGAGGAAGAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	493		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406479	T T	TTGTCACT others(45): Show TTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGT GTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0179 a0001c0001t0179	a0001c0001t0179g0094 a0001c0001t0179g0094	1	276	0.0036	52	c.35 others(61): Show c.354_*355insCACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGA GGTCCACTCAGTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	354		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406508	C C	CGTCTTCC others(45): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0154 a0001c0001t0054g0154	1	276	0.0036	52	c.32 others(61): Show c.325_*326insTAGATGTCACAGAGGTCCACTCAGTGACACACACTG AAGGCCTGAGGAAGAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	325		chr2	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	352	0.0028	52	c.112 others(71): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITPR2_chr12_26330352_26838194	26831685	T T	TATATATA others(45): Show TATATATATTCTACATAAAATATATAAATATATATTCTACATAAAATATA TAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0050 a0009c0050	a0009c0050t0003 a0009c0050t0003	a0009c0050t0003g0016 a0009c0050t0003g0016	1	142	0.0070	52	c.92+ others(66): Show c.92+953_92+1004dupTTATATATTTTATGTAGAATATATATTTATA TATTTTATGTAGAATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(45): Show AATATATATATATATACATATATATATATATATATATATATACATACATA TAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0020 a0004c0004t0001g0020	1	224	0.0045	52	c.-33 others(69): Show c.-33-9201_-33-9200insATATATGTATGTATATATATATATATAT ATATATATGTATATATATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
JAG2_chr14_105135995_105173776	105149868	T T	TGGGGAGG others(45): Show TGGGGAGGCAGGGTTGGGGGAGGTGGGGAAGGGGGTGGTAGGGAGGTGGG TGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01123.hp1 HG01175.hp1 others(6): Show HG00673.hp1 HG01123.hp1 HG01175.hp1 HG01515.hp1 HG02257.hp2 HG02630.hp2 HG03704.hp1 NA20752.hp1 NA20752.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0031 a0002c0002 a0010c0031	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0010c0031t0004	a0002c0002t0001g0026 a0002c0002t0001g0082 a0002c0002t0001g0105 others(5): Show a0002c0002t0001g0026 a0002c0002t0001g0082 a0002c0002t0001g0105 a0002c0002t0002g0058 a0002c0002t0002g0081 a0002c0002t0005g0094 a0002c0002t0005g0107 a0010c0031t0004g0145	9	364	0.0247	52	c.160 others(69): Show c.1603-600_1603-549dupCCACCCACCTCCCTACCACCCCCTTCCC CACCTCCCCCAACCCTGCCTCCCC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	12/25			chr14	TogoVar
JAKMIP3_chr10_132060946_132189858	132160086	T T	TCTACTTC others(45): Show TCTACTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCTGGGG AGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG00099.hp1 HG00738.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0001 a0003c0002t0001g0003	2	158	0.0127	52	c.222 others(71): Show c.2221-3121_2221-3120insACTTCTATGTCTTACTGGGGGGGGCC TCTCCCTGTGTGATGCTGGGGAGCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160328	C C	CGCTGTGT others(45): Show CGCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGACGCTGGGGGCGTGT CTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0022 a0002c0047t0022	a0002c0047t0022g0045 a0002c0047t0022g0045	1	158	0.0063	52	c.222 others(71): Show c.2221-2881_2221-2880insGCTGTGTGATGCTGGGGGCGTGTCTT CCTGTGTGACGCTGGGGGCGTGTCTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160878	C C	CCCTGTGT others(45): Show CCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATGCAGGCGGTGGCCT CTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02027.hp2 others(9): Show HG01884.hp2 HG01891.hp1 HG02027.hp2 HG02258.hp1 HG02630.hp1 HG02922.hp1 HG03017.hp2 HG03225.hp2 HG06807.hp2 NA18522.hp1 NA19081.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0017 others(5): Show a0001c0001 a0001c0006 a0001c0017 a0001c0019 a0002c0010 a0003c0002 a0003c0003 a0003c0021	a0001c0001t0003 a0001c0006t0017 a0001c0017t0003 others(6): Show a0001c0001t0003 a0001c0006t0017 a0001c0017t0003 a0001c0017t0027 a0001c0019t0003 a0002c0010t0009 a0003c0002t0001 a0003c0003t0001 a0003c0021t0001	a0001c0001t0003g0102 a0001c0006t0017g0154 a0001c0017t0003g0011 others(9): Show a0001c0001t0003g0102 a0001c0006t0017g0154 a0001c0017t0003g0011 a0001c0017t0003g0104 a0001c0017t0027g0012 a0001c0019t0003g0081 a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0003c0002t0001g0112 a0003c0003t0001g0077 a0003c0021t0001g0032	12	158	0.0760	52	c.222 others(71): Show c.2221-2319_2221-2318insTGGGGAGCCTCTTCCTGTGTGATGCA GGCGGTGGCCTCTTCCTGTGTGATGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160898	G G	GGCCTCTT others(45): Show GGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTCTTCCTGTGTGATGCTGG GGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0008 a0002c0025t0008	a0002c0025t0008g0033 a0002c0025t0008g0033	1	158	0.0063	52	c.222 others(71): Show c.2221-2291_2221-2290insGGGGGGGGTCTCTTCCTGTGTGATGC TGGGGAGCCTCTTCCTGTGTGATGCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160900	C C	CCTCTTCC others(45): Show CCTCTTCCTGTGTGATGCTGGGGGGGGTCTCTTCCTGTGTGATGCTAGGG GGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0008 a0002c0008t0003g0008	1	158	0.0063	52	c.222 others(71): Show c.2221-2291_2221-2290insGGGGGGGGTCTCTTCCTGTGTGATGC TAGGGGGTCTCTTCCTGTGTGATGCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160969	T T	TAGGGGGT others(45): Show TAGGGGGTCTCTTCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATG CTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0027 a0001c0017t0027	a0001c0017t0027g0012 a0001c0017t0027g0012	1	158	0.0063	52	c.222 others(71): Show c.2221-2240_2221-2239insAGGGGGTCTCTTCCTGTGTGATGCTG GGTGGGCCTCTCCCTGTGTGATGCTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161000	G G	GGGGTCTA others(45): Show GGGGTCTATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGATGCTG GGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0037 a0002c0004t0003g0037	1	158	0.0063	52	c.222 others(71): Show c.2221-2206_2221-2205insTCTATTCCTGTGTCTTATTGAGGGGG CCTCTCCCTGTGTGATGCTGGGTGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161242	C C	CCTGTGTG others(45): Show CCTGTGTGATGCTGGGGGGGCCTCTTCCTGCGTGATGCTGGGGGCGTGTC TTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02280.hp2 HG03927.hp2 HG02040.hp1 HG02280.hp2 HG03927.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0015 a0004c0009 a0001c0001 a0001c0015 a0004c0009	a0001c0001t0002 a0001c0015t0005 a0004c0009t0002 a0001c0001t0002 a0001c0015t0005 a0004c0009t0002	a0001c0001t0002g0105 a0001c0015t0005g0140 a0004c0009t0002g0059 a0001c0001t0002g0105 a0001c0015t0005g0140 a0004c0009t0002g0059	3	158	0.0190	52	c.222 others(71): Show c.2221-1943_2221-1942insTCCTGCGTGATGCTGGGGGCGTGTCT TTCTGTGTGATGCTGGGGGGGCCTCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JARID2_chr6_15241069_15527042	15415637	C C	CGGGGGGC others(45): Show CGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	284	0.0035	52	c.323 others(69): Show c.323+5290_323+5291insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JMJD6_chr17_76713451_76731606	76728306	T T	TTGTTTTT others(45): Show TTGTTTTTGACCCGGACGCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAG TGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02735.hp2 HG02602.hp1 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0138 a0001c0003t0001g0139	2	440	0.0046	52	c.-18 others(63): Show c.-1832_-1831insCCACTACTGCACTCCAGCCTGGGCAACAGAGCGA GCGTCCGGGTCAAAAACA	JMJD6	ENSG00000070495.15	transcript	ENST00000397625.9	protein_coding		1701		chr17	TogoVar
JMJD6_chr17_76713451_76731606	76728306	T T	TTGTTTTT others(45): Show TTGTTTTTGACCCGGACGCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGG TGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02717.hp2 others(4): Show HG01891.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG03209.hp1 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0077	7	440	0.0159	52	c.-18 others(63): Show c.-1832_-1831insCCACCACTGCACTCCAGCCTGGGCAACAGAGCGA GCGTCCGGGTCAAAAACA	JMJD6	ENSG00000070495.15	transcript	ENST00000397625.9	protein_coding		1701		chr17	TogoVar
JMY_chr5_79231131_79332211	79270598	G G	GTATATTT others(45): Show GTATATTTACATAAATATTTAAAATGTATATTTACATAAATGTTTATATA AAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02895.hp1 others(2): Show HG02055.hp1 HG02486.hp2 HG02895.hp1 HG03225.hp2 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0013 a0003c0005t0009 a0003c0005t0013	a0003c0005t0009g0205 a0003c0005t0009g0207 a0003c0005t0013g0202 others(2): Show a0003c0005t0009g0205 a0003c0005t0009g0207 a0003c0005t0013g0202 a0003c0005t0013g0203 a0003c0005t0013g0204	5	342	0.0146	52	c.103 others(71): Show c.1033-7297_1033-7296insATTTAAAATGTATATTTACATAAATG TTTATATAAAATATATTTACATAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(45): Show GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0086 a0002c0002t0086	a0002c0002t0086g0245 a0002c0002t0086g0245	1	338	0.0030	52	c.117 others(71): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KATNBL1_chr15_34135674_34215096	34181806	A A	ACACATAT others(45): Show ACACATATATATGTCCATATATATATGTCCATATATATACACATATATAT GTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02897.hp1 others(2): Show HG02258.hp2 HG02572.hp2 HG02897.hp1 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0238 others(2): Show a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240	5	344	0.0145	52	c.-14 others(71): Show c.-14-18117_-14-18116insGACATATATATGTGTATATATATGGA CATATATATATGGACATATATATGTG	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KCNB2_chr8_72532225_72943349	72920453	C C	CTATATAT others(45): Show CTATATATATATATATATGTGTGTGTGTATATATATATATATATATGTGT GTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02004.hp1 HG02602.hp1 others(2): Show HG00099.hp2 HG02004.hp1 HG02602.hp1 HG03017.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0005t0004	a0001c0001t0001g0020 a0001c0001t0002g0092 a0001c0001t0003g0157 others(2): Show a0001c0001t0001g0020 a0001c0001t0002g0092 a0001c0001t0003g0157 a0001c0001t0004g0051 a0001c0005t0004g0052	5	164	0.0305	52	c.580 others(71): Show c.580-15479_580-15478insATATATATATATATGTGTGTGTGTAT ATATATATATATATATGTGTGTATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72920453	C C	CTATATAT others(45): Show CTATATATATATATATATGTGTGTGTGTGTATATATATATATATATGTGT GTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	164	0.0061	52	c.580 others(71): Show c.580-15479_580-15478insATATATATATATATGTGTGTGTGTGT ATATATATATATATATGTGTGTATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNE3_chr11_74449841_74472549	74456155	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0152 a0001c0001t0063g0152	1	446	0.0022	52	c.10 others(63): Show c.1096_*1097insATATATATATATATATATATATATATATATATAT ATATATATATATATATAT	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding	3/3	1096		chr11	TogoVar
KCNH5_chr14_62694464_63050458	62853453	A A	AATCATAT others(45): Show AATCATATATATATATATATATATATATATCATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	224	0.0045	52	c.137 others(71): Show c.1370-3602_1370-3601insATATATATATATATATATATATGATA TATATATATATATATATATATATGAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	62853458	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATCATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	224	0.0045	52	c.137 others(71): Show c.1370-3607_1370-3606insCATATATATATATATATATATGATAT ATATATATATATATATATATATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar

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