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
IRAG2_chr12_25047706_25113335	25077330	T T	TATATATA others(24): Show TATATATATGAAATATATATATGATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	333	0.0030	31	c.25- others(46): Show c.25-1883_25-1853dupGATATATATGAAATATATATATGATATATA T	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0170 a0003c0003t0001g0170	1	2	0.5000	31	c.76 others(40): Show c.765_*766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar
IRF3_chr19_49654572_49670857	49660028	C C	CACACACA others(24): Show CACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0020 a0002c0001t0002g0020	1	263	0.0038	31	c.109 others(48): Show c.1099-196_1099-195insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF8_chr16_85894162_85927606	85904812	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0193 a0001c0001t0013g0193	1	221	0.0045	31	c.174 others(48): Show c.174+1643_174+1644insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	IRF8	ENSG00000140968.12	transcript	ENST00000268638.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRS1_chr2_226726312_226804820	226728076	G G	GTGTGTGT others(24): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0064 a0001c0002t0005g0064	1	2	0.5000	31	c.81 others(42): Show c.8195_*8196insACACACACACACACACACACACACACACACA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding		3235		chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0072 a0001c0002t0020g0072	1	27	0.0370	31	c.21 others(50): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAATATATATATAT ATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766164	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0063 a0001c0002t0005g0063	1	267	0.0037	31	c.21 others(50): Show c.21+28824_*21+28825insTATATATATATATATATATATATATA TATAT	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(24): Show ATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	13	0.0769	31	c.655 others(50): Show c.655+19399_655+19400insAAAAAAAAAAAAAAAAAAATATATAT ATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITGA11_chr15_68291532_68437163	68308761	G G	GAAAAGAA others(24): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0017 a0008c0020t0017	a0008c0020t0017g0023 a0008c0020t0017g0023	1	58	0.0172	31	c.317 others(50): Show c.3175-1066_3175-1065insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	26/29			chr15	TogoVar
ITGA1_chr5_52782916_52964209	52872575	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0045 a0007c0016t0045	a0007c0016t0045g0248 a0007c0016t0045g0248	1	116	0.0086	31	c.624 others(48): Show c.624+6776_624+6777insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA9_chr3_37447141_37828507	37512209	C C	CTTTTCTT others(24): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0165 a0002c0002t0002g0165	1	153	0.0065	31	c.898 others(48): Show c.898-1551_898-1550insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAE_chr17_3709628_3806188	3730454	A A	AAAAAAAA others(24): Show AAAAAAAAAATAAAATAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01433.hp2 HG00099.hp1 HG01433.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0286 a0005c0005t0001g0283 a0002c0002t0001g0286 a0005c0005t0001g0283	2	216	0.0093	31	c.283 others(48): Show c.2834+649_2834+650insATTTTTTTTTTTTTTTATTTTATTTTTT TTT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	23/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3730454	A A	AAAAAAAA others(24): Show AAAAAAAAAATAAAATAAAAAAATAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0242 a0005c0005t0001g0242	1	215	0.0047	31	c.283 others(48): Show c.2834+649_2834+650insATTTTTTTATTTTTTTATTTTATTTTTT TTT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	23/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3730454	A A	AAAAAAAA others(24): Show AAAAAAAAAATAAAATAAAAAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(68): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG01070.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01261.hp2 HG01361.hp1 HG01517.hp2 HG02040.hp1 HG02083.hp1 HG02148.hp1 HG02155.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG03017.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18970.hp1 NA18971.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19055.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19085.hp1 NA19089.hp1 NA20905.hp2 NA21309.hp2	a0002 a0005 a0006 others(4): Show a0002 a0005 a0006 a0014 a0021 a0028 a0029	a0002c0002 a0002c0018 a0002c0029 others(10): Show a0002c0002 a0002c0018 a0002c0029 a0002c0031 a0002c0032 a0005c0005 a0006c0007 a0006c0015 a0006c0021 a0014c0040 a0021c0036 a0028c0033 a0029c0049	a0002c0002t0001 a0002c0018t0001 a0002c0029t0001 others(10): Show a0002c0002t0001 a0002c0018t0001 a0002c0029t0001 a0002c0031t0001 a0002c0032t0001 a0005c0005t0001 a0006c0007t0001 a0006c0015t0001 a0006c0021t0001 a0014c0040t0001 a0021c0036t0001 a0028c0033t0001 a0029c0049t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0096 others(67): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0096 a0002c0002t0001g0102 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0154 a0002c0002t0001g0157 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0236 a0002c0002t0001g0240 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0265 a0002c0002t0001g0285 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0018t0001g0075 a0002c0018t0001g0134 a0002c0029t0001g0288 a0002c0031t0001g0098 a0002c0032t0001g0090 a0005c0005t0001g0057 a0005c0005t0001g0065 a0005c0005t0001g0143 a0005c0005t0001g0146 a0005c0005t0001g0147 a0005c0005t0001g0173 a0005c0005t0001g0264 a0005c0005t0001g0274 a0005c0005t0001g0275 a0006c0007t0001g0032 a0006c0007t0001g0081 a0006c0007t0001g0088 a0006c0007t0001g0089 a0006c0007t0001g0142 a0006c0007t0001g0163 a0006c0007t0001g0180 a0006c0007t0001g0210 a0006c0007t0001g0226 a0006c0007t0001g0228 a0006c0015t0001g0073 a0006c0015t0001g0266 a0006c0015t0001g0267 a0006c0021t0001g0174 a0006c0021t0001g0291 a0014c0040t0001g0171 a0021c0036t0001g0079 a0028c0033t0001g0172 a0029c0049t0001g0006	71	285	0.2491	31	c.283 others(48): Show c.2834+649_2834+650insATTTATTTATTTTTTTATTTTATTTTTT TTT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	23/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3730454	A A	AAAAAAAA others(24): Show AAAAAAAAAATAAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	215	0.0047	31	c.283 others(48): Show c.2834+649_2834+650insATTTATTTATTTATTTATTTTATTTTTT TTT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	23/30			chr17	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400233	C C	CTCCCCTC others(24): Show CTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0141 a0001c0001t0085g0141	1	273	0.0037	31	c.66 others(42): Show c.6600_*6601insAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3241		chr2	TogoVar
ITGB3BP_chr1_63435770_63528225	63444601	A A	AATATATA others(24): Show AATATATATATATCTCCTATTACATATAGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02818.hp2 others(2): Show HG01891.hp1 HG02615.hp2 HG02818.hp2 HG02965.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 others(2): Show a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351	5	372	0.0134	31	c.1+ others(46): Show c.1+2174_*1+2204dupCTCCTATATGTAATAGGAGATATATATATA T	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	8/8			chr1	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18946.hp2 NA18979.hp2 HG03704.hp1 NA18946.hp2 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0105 a0001c0006t0001g0231 a0001c0006t0001g0269 a0001c0003t0001g0105 a0001c0006t0001g0231 a0001c0006t0001g0269	3	5	0.6000	31	c.101 others(50): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH5_chr10_7554270_7671966	7565009	C C	CATATATA others(24): Show CATATATACATATATACATACATAGACTGTAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0004 a0005c0025t0004	a0005c0025t0004g0189 a0005c0025t0004g0189	1	339	0.0029	31	c.252 others(49): Show c.2527+990_2527+1020dupATACAGTCTATGTATGTATATATGTAT ATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	13/13			chr10	TogoVar
ITM2C_chr2_230859942_230884248	230875468	C C	CTCCATCT others(24): Show CTCCATCTGCGAAATGGGTCTCACAGTCCCTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	396	0.0025	31	c.262 others(46): Show c.262-151_262-121dupTCCATCTGCGAAATGGGTCTCACAGTCCCT G	ITM2C	ENSG00000135916.16	transcript	ENST00000326427.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITPR2_chr12_26330352_26838194	26772470	T T	TTATATAT others(24): Show TTATATATATTATATATATAATACATGTATTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0037 a0001c0008t0037	a0001c0008t0037g0018 a0001c0008t0037g0018	1	44	0.0227	31	c.163 others(50): Show c.163+17686_163+17687insTAATACATGTATTATATATATAATAT ATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPRIP_chr10_104304700_104343465	104309331	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	295	0.0034	31	c.50 others(42): Show c.5076_*5077insTATATATATATATATATATATATATATATAT	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		368		chr10	TogoVar
ITSN2_chr2_24197864_24365536	24362965	A A	ATACTCAG others(24): Show ATACTCAGTTCTCTCTTTCTCTCATATTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	222	0.0045	31	c.-26 others(42): Show c.-2696_-2695insAAGAAATATGAGAGAAAGAGAGAACTGAGTA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding		2430		chr2	TogoVar
JAGN1_chr3_9885610_9899349	9894015	C C	CAGCTGAT others(24): Show CAGCTGATTGGTAAGAACTATGGGCCAGACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0001 a0001c0002t0019g0001	1	398	0.0025	31	c.63 others(40): Show c.639_*669dupAGCTGATTGGTAAGAACTATGGGCCAGACAT	JAGN1	ENSG00000171135.15	transcript	ENST00000647897.1	protein_coding	2/2	670	INFO_REALIGN_3_PRIME	chr3	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0031 a0001c0003t0006g0031	1	216	0.0046	31	c.46 others(42): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		1488		chr9	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18612.hp1 NA18972.hp1 others(5): Show HG02293.hp2 NA18612.hp1 NA18972.hp1 NA18977.hp1 NA18980.hp1 NA19056.hp2 NA19074.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0013 a0001c0002t0008 a0001c0003t0014 others(3): Show a0001c0001t0013 a0001c0002t0008 a0001c0003t0014 a0001c0003t0018 a0001c0003t0074 a0001c0004t0003	a0001c0001t0013g0172 a0001c0002t0008g0242 a0001c0003t0014g0233 others(5): Show a0001c0001t0013g0172 a0001c0002t0008g0242 a0001c0003t0014g0233 a0001c0003t0014g0234 a0001c0003t0018g0231 a0001c0003t0018g0243 a0001c0003t0074g0236 a0001c0004t0003g0197	8	116	0.0690	31	c.-14 others(52): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT ATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132071853	C C	CCTTTCTT others(24): Show CCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0080 a0001c0022t0002g0080	1	119	0.0084	31	c.-13 others(50): Show c.-138+5810_-138+5811insCTTTCTTTCCTTTCTTTCTTTCCTTT CTTTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18906.hp2 NA19043.hp2 HG01981.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0015 a0001c0008t0023 a0001c0001t0015 a0001c0008t0023	a0001c0001t0015g0230 a0001c0008t0023g0108 a0001c0008t0023g0109 a0001c0001t0015g0230 a0001c0008t0023g0108 a0001c0008t0023g0109	3	146	0.0205	31	c.67+ others(48): Show c.67+20895_67+20896insATATATATATATATATATATATATATAT ATT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0231 a0001c0001t0010g0231	1	144	0.0069	31	c.67+ others(48): Show c.67+20895_67+20896insATATATATATATATATATATATATATAT TTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	144	0.0069	31	c.67+ others(48): Show c.67+20895_67+20896insATATATATATATATTTTTTTTTTTTTTT TTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JARID2_chr6_15241069_15527042	15469352	T T	TCCTCCCC others(24): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02165.hp1 HG02273.hp1 others(1): Show HG02080.hp2 HG02165.hp1 HG02273.hp1 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0005c0021 a0001c0002 a0001c0003 a0005c0021	a0001c0002t0001 a0001c0002t0028 a0001c0003t0003 others(1): Show a0001c0002t0001 a0001c0002t0028 a0001c0003t0003 a0005c0021t0003	a0001c0002t0001g0219 a0001c0002t0028g0235 a0001c0003t0003g0271 others(1): Show a0001c0002t0001g0219 a0001c0002t0028g0235 a0001c0003t0003g0271 a0005c0021t0003g0170	4	266	0.0150	31	c.670 others(46): Show c.670+635_670+636insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC C	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(24): Show TCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0024 a0001c0007t0018g0024	1	184	0.0054	31	c.670 others(46): Show c.670+637_670+638insCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC C	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(24): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 HG03209.hp1 HG02965.hp1 HG03130.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0055 a0001c0001t0002g0148 a0001c0001t0002g0149	3	186	0.0161	31	c.670 others(46): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC C	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15486806	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18942.hp1 NA18612.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0258 a0001c0002t0001g0132 a0001c0002t0001g0258	2	73	0.0274	31	c.671 others(46): Show c.671-483_671-482insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27849774	C C	CACACACA others(24): Show CACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	203	0.0049	31	c.386 others(48): Show c.386-8908_386-8907insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28048972	C C	CCCTTCCC others(24): Show CCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18990.hp1 NA18965.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0177 a0001c0001t0001g0178	2	169	0.0118	31	c.116 others(50): Show c.116-56992_116-56991insAAGGAAGGGAAGGAAGGGAAGGAAGG GAAGG	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JKAMP_chr14_59479517_59510410	59502750	A A	ATTTTTGT others(24): Show ATTTTTGTTTTGTTTTGTTTTGTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18986.hp2 NA19056.hp2 HG01884.hp2 NA18986.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0066 a0001c0001t0002g0032 a0001c0001t0002g0066	3	337	0.0089	31	c.718 others(48): Show c.718-1099_718-1098insGTTTTGTTTTGTTTTGTTTTTTTGTTTT TTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502753	T T	TTTGTTTT others(24): Show TTTGTTTTGTTTTGTTTTGTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00544.hp2 others(64): Show HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00642.hp2 HG01069.hp1 HG01109.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18945.hp2 NA18964.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19012.hp1 NA19043.hp2 NA19055.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19086.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0004 a0001c0001 a0002c0005 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0002c0005t0002 a0003c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 others(19): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0003g0079 a0001c0001t0009g0003 a0002c0005t0002g0020 a0003c0004t0002g0004	67	333	0.2012	31	c.718 others(48): Show c.718-1099_718-1098insGTTTTGTTTTGTTTTGTTTTTTTGTTTT GTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63292144	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0197 a0003c0003t0001g0197	1	74	0.0135	31	c.334 others(50): Show c.334-27381_334-27380insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(24): Show AAAAGAAAAGAAAAGAAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03579.hp1 HG00140.hp1 HG03579.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0119 a0005c0005t0001g0131 a0005c0005t0001g0119 a0005c0005t0001g0131	2	161	0.0124	31	c.333 others(50): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTTCTTTTCTTT TCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	93	0.0108	31	c.65- others(46): Show c.65-1325_65-1324insATATATATATATATATATATATATATATTT T	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18945.hp1 HG01952.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0084 a0001c0001t0002g0002 a0001c0001t0002g0084	2	94	0.0213	31	c.65- others(46): Show c.65-1325_65-1324insATATATATATATATATATATATATTTTTTT T	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18940.hp1 HG01167.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	94	0.0213	31	c.65- others(46): Show c.65-1325_65-1324insATATATATATATATATATATATTTTTTTTT T	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02486.hp2 HG02132.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0083 a0001c0001t0002g0026 a0001c0001t0002g0083	2	94	0.0213	31	c.65- others(46): Show c.65-1325_65-1324insATATATATATATATATATATTTTTTTTTTT T	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18955.hp1 HG01517.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0081 a0001c0001t0002g0014 a0001c0001t0002g0081	2	94	0.0213	31	c.65- others(46): Show c.65-1325_65-1324insATATATATATATATATATTTTTTTTTTTTT T	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	93	0.0108	31	c.65- others(46): Show c.65-1325_65-1324insATATATATATATATATTTTTTTTTTTTTTT T	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	93	0.0108	31	c.65- others(46): Show c.65-1325_65-1324insATATATATATATATTTTTTTTTTTTTTTTT T	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JPH1_chr8_74229700_74326540	74296019	G G	GCACACAC others(24): Show GCACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	71	0.0141	31	c.113 others(52): Show c.1139+18841_1139+18842insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTG	JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	2/5			chr8	TogoVar
JPT2_chr16_1673279_1707086	1676801	C C	CTCCTCTC others(24): Show CTCCTCTCCTCTCTAATTCCCTTAGTACTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	384	0.0026	31	c.-15 others(42): Show c.-1512_-1511insTCCTCTCCTCTCTAATTCCCTTAGTACTTTT	JPT2	ENSG00000206053.13	transcript	ENST00000248098.8	protein_coding		1477		chr16	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18522.hp2 NA18995.hp1 others(1): Show HG01175.hp1 NA18522.hp2 NA18995.hp1 NA19004.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0056 a0001c0078 others(1): Show a0001c0002 a0001c0056 a0001c0078 a0003c0053	a0001c0002t0024 a0001c0056t0002 a0001c0078t0001 others(1): Show a0001c0002t0024 a0001c0056t0002 a0001c0078t0001 a0003c0053t0004	a0001c0002t0024g0006 a0001c0056t0002g0014 a0001c0078t0001g0056 others(1): Show a0001c0002t0024g0006 a0001c0056t0002g0014 a0001c0078t0001g0056 a0003c0053t0004g0094	4	34	0.1176	31	c.456 others(46): Show c.456+622_456+623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59		INFO_REALIGN_3_PRIME	chr3	TogoVar

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