Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARPP21_chr3_35634525_35799486	35667885	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02965.hp2 others(2): Show HG01243.hp2 HG02559.hp2 HG02965.hp2 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0210 a0001c0002t0001g0050 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0210 a0001c0002t0001g0050 a0001c0002t0001g0059 a0001c0002t0001g0060	5	266	0.0188	30	c.-21 others(51): Show c.-212-11897_-212-11896insAGAAGAAGAAGAAGAAGAAGAAGA GGAAGA	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRB1_chr11_75255122_75356661	75275123	A A	ATTTATTT others(23): Show ATTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG02647.hp1 others(1): Show HG00735.hp2 HG01496.hp1 HG02647.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0014	a0001c0001t0001g0318 a0001c0001t0004g0302 a0001c0002t0002g0288 others(1): Show a0001c0001t0001g0318 a0001c0001t0004g0302 a0001c0002t0002g0288 a0001c0002t0014g0054	4	320	0.0125	30	c.777 others(45): Show c.777-942_777-913dupATAAAATAAAATAAAATAAAATAAAATAAA	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	10/15			chr11	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(23): Show CTACTACTACTACTACTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp1 HG01891.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0031 a0001c0003t0028 a0001c0003t0031	a0001c0003t0028g0348 a0001c0003t0031g0119 a0001c0003t0028g0348 a0001c0003t0031g0119	2	360	0.0056	30	c.114 others(49): Show c.1143-1743_1143-1742insTTATTATTATTATTAGTAGTAGTAGT AGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(23): Show CTACTACTACTACTACTACTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03209.hp1 HG04204.hp2 HG02145.hp1 HG03209.hp1 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0008 a0001c0003t0001 a0001c0003t0006 a0001c0003t0008	a0001c0003t0001g0344 a0001c0003t0006g0267 a0001c0003t0008g0116 a0001c0003t0001g0344 a0001c0003t0006g0267 a0001c0003t0008g0116	3	360	0.0083	30	c.114 others(49): Show c.1143-1743_1143-1742insTTATTATTATTAGTAGTAGTAGTAGT AGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(23): Show CTACTACTACTACTACTACTACTAATAATAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03491.hp1 HG02615.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0015 a0001c0008t0008 a0001c0003t0015 a0001c0008t0008	a0001c0003t0015g0346 a0001c0008t0008g0118 a0001c0003t0015g0346 a0001c0008t0008g0118	2	360	0.0056	30	c.114 others(49): Show c.1143-1743_1143-1742insTTATTATTAGTAGTAGTAGTAGTAGT AGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(23): Show CTACTACTACTACTACTACTACTACTAATAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0343 a0001c0003t0046g0343	1	360	0.0028	30	c.114 others(49): Show c.1143-1743_1143-1742insTTATTAGTAGTAGTAGTAGTAGTAGT AGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSG_chr17_68286495_68425814	68413447	C C	CTCATTAG others(23): Show CTCATTAGGTGCTTTCTCGGGTCAGGACCCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0043 a0001c0005t0001g0043	1	304	0.0033	30	c.130 others(49): Show c.1304-6742_1304-6741insTCATTAGGTGCTTTCTCGGGTCAGGA CCCA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	11/11			chr17	TogoVar
ARSH_chrX_3001546_3039111	3035498	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18982.hp1 NA18990.hp1 NA18952.hp1 NA18982.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0091 a0001c0001t0001g0007 a0001c0001t0001g0091	3	248	0.0121	30	c.21 others(41): Show c.2113_*2114insTGTGTGTGTGTGTGTGTGGAGAGAGAGAGA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		1388		chrX	TogoVar
AS3MT_chr10_102864470_102906899	102871727	C C	CAAACAAA others(23): Show CAAACAAAACAAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0026 a0001c0002t0023g0026	1	362	0.0028	30	c.171 others(45): Show c.171-718_171-689dupACAAAACAAAACAAAACAAAACAAAACAAA	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP1_chr8_130047104_130448674	130072790	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02630.hp2 HG02723.hp1 HG00673.hp2 HG02630.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012	a0001c0001t0002g0192 a0001c0001t0011g0015 a0001c0001t0012g0298 a0001c0001t0002g0192 a0001c0001t0011g0015 a0001c0001t0012g0298	3	308	0.0097	30	c.270 others(49): Show c.2701+3557_2701+3558insACACACACACACACACACACACACAC ACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	308	0.0033	30	c.270 others(49): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCACACACACAC ACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02698.hp1 HG02615.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0011 a0001c0001t0019g0286 a0001c0001t0008g0011 a0001c0001t0019g0286	2	308	0.0065	30	c.270 others(49): Show c.2701+3523_2701+3524insGCACACACACACACACACACACACAC ACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGCGCGCGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0182 a0001c0004t0002g0182	1	308	0.0033	30	c.270 others(49): Show c.2701+3522_2701+3523insGGCGCGCGCACACACACACACACACA CACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03491.hp1 HG02293.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0163 a0001c0001t0001g0097 a0001c0001t0001g0163	2	308	0.0065	30	c.240 others(49): Show c.2402-9590_2402-9589insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(23): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	308	0.0033	30	c.187 others(49): Show c.187-39735_187-39734insAGAGAGAGAGAGAGAGAGAGAGAGTG TGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276760	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	1	308	0.0033	30	c.187 others(49): Show c.187-39767_187-39766insGGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACACA others(23): Show CACACACAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0040	1	308	0.0033	30	c.186 others(49): Show c.186+57863_186+57864insCTCTCTCTCTCTCTCTCTCTCTCTGT GTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0167 a0002c0001t0001g0167	1	210	0.0048	30	c.127 others(49): Show c.127-25080_127-25079insAAAAAATATATATATATATATATATA TATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0188	1	210	0.0048	30	c.127 others(49): Show c.127-25062_127-25061insTATATATATATATATATATACACACA CACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9270785	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	210	0.0048	30	c.127 others(47): Show c.127-8507_127-8506insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9389686	C C	CCCGAAGA others(23): Show CCCGAAGAACAAACCTGCTGAGAGCAGACCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0026 a0001c0002t0003g0026	1	210	0.0048	30	c.238 others(49): Show c.2383+1141_2383+1170dupCCGAAGAACAAACCTGCTGAGAGCAG ACCT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0047 a0001c0009t0004g0047	1	210	0.0048	30	c.268 others(49): Show c.2685-2272_2685-2271insATATATATATATATATATATTTTTTT TTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9400190	G G	GCCCTCCT others(23): Show GCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0167 a0002c0001t0001g0167	1	210	0.0048	30	c.273 others(47): Show c.2734+148_2734+177dupCCCCTCCTGCCCCCTCCCCTCCTGCCCC CT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGAAGA others(23): Show GGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19081.hp2 NA19090.hp2 NA18953.hp1 NA19081.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0002g0247 a0001c0001t0003g0096 a0001c0001t0011g0354 a0001c0001t0002g0247 a0001c0001t0003g0096 a0001c0001t0011g0354	3	446	0.0067	30	c.43+ others(45): Show c.43+3914_43+3943dupTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGAGAG others(23): Show GGAGAGAGGAGAAGAGAAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0263 a0001c0001t0013g0263	1	446	0.0022	30	c.43+ others(45): Show c.43+3943_43+3944insTTCTCTTCTCTTCTTCTCTTCTCCTCTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGGGGA others(23): Show GGAGGGGAGAACAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01106.hp1 others(5): Show HG00642.hp2 HG01069.hp2 HG01106.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0110 a0001c0001t0001g0414 a0001c0001t0002g0373 others(5): Show a0001c0001t0001g0110 a0001c0001t0001g0414 a0001c0001t0002g0373 a0001c0001t0002g0395 a0001c0001t0006g0372 a0001c0001t0006g0374 a0001c0001t0014g0412 a0001c0001t0014g0413	8	446	0.0179	30	c.43+ others(45): Show c.43+3943_43+3944insTTCTCTTCTCTTCTCTTCTGTTCTCCCCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGGGGA others(23): Show GGAGGGGAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0349 a0001c0001t0003g0349	1	446	0.0022	30	c.43+ others(45): Show c.43+3943_43+3944insTTCTCTTCTCTTCTCTTCTCTTCTCCCCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB14_chr3_57263342_57297685	57284094	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	336	0.0030	30	c.470 others(45): Show c.470-685_470-656dupCACACACACACACACACACACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0012 a0002c0003t0002g0012	1	314	0.0032	30	c.530 others(49): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608086	A A	ATAGATAT others(23): Show ATAGATATATACATATATATGTATATATATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	314	0.0032	30	c.478 others(47): Show c.4786-999_4786-998insGATATATATACATATATATGTATATATC TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608086	A A	ATCGATAT others(23): Show ATCGATATATACATATATATGTATATATATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03453.hp1 NA19030.hp1 others(2): Show HG02559.hp1 HG03453.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(2): Show a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205	5	314	0.0159	30	c.478 others(47): Show c.4786-999_4786-998insGATATATATACATATATATGTATATATC GA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608114	A A	ATATTTGT others(23): Show ATATTTGTATATATGTATATACATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show HG00280.hp2 HG00609.hp2 HG02083.hp2 HG02129.hp1 HG03942.hp2 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA19007.hp1 NA19068.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(7): Show a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 a0001c0006t0005g0164 a0001c0006t0005g0165 a0001c0006t0005g0166 a0001c0006t0005g0167 a0001c0006t0005g0168 a0001c0006t0005g0169 a0001c0006t0005g0170	10	314	0.0319	30	c.478 others(49): Show c.4786-1027_4786-1026insCATATATATGTATATACATATATACA AATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(23): Show TTATATATATATATATACTTATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0150 a0003c0005t0002g0150	1	314	0.0032	30	c.478 others(49): Show c.4786-1644_4786-1643insTATATATATATAAGTATATATATATA TATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(23): Show TTATATATATATATTTTTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0103 a0001c0002t0003g0103	1	314	0.0032	30	c.478 others(49): Show c.4786-1644_4786-1643insTATATATATATATAAAAATATATATA TATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTTCATT others(23): Show CTTTCATTCTTTCTTTCTTTCTTTCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	30	c.31 others(41): Show c.3126_*3127insTTTCATTCTTTCTTTCTTTCTTTCTTCCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962441	T T	TTTCTTTC others(23): Show TTTCTTTCATTCTTTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG01358.hp2 others(23): Show HG01175.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01952.hp1 HG01952.hp2 HG02056.hp1 HG03654.hp2 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18983.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp2 NA19070.hp1 NA19085.hp2 NA19089.hp1 NA20905.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0010 a0001c0001 a0003c0003 a0006c0010	a0001c0001t0001 a0001c0001t0015 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0015 a0003c0003t0001 a0003c0003t0002 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0015g0001 a0003c0003t0001g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0015g0001 a0003c0003t0001g0001 a0003c0003t0002g0001 a0006c0010t0001g0001	26	354	0.0735	30	c.31 others(41): Show c.3127_*3128insTTCTTTCATTCTTTCTTTCTTTCTTTCTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1929		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962441	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCATTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18999.hp1 NA18964.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	354	0.0057	30	c.31 others(41): Show c.3127_*3128insTTCTTTCTTTCATTCTTTCTTTCTTTCTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1929		chr12	TogoVar
ASDURF_chr2_189656459_189671401	189665608	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	340	0.0029	30	c.220 others(45): Show c.220+184_220+185insGTGTATATATATATATATATATATATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASF1A_chr6_118889152_118914171	118895046	G G	GGCACTCT others(23): Show GGCACTCTCGAGAGCTCACGGTGGAGTCGCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	400	0.0025	30	c.109 others(45): Show c.109+533_109+562dupGAGAGCTCACGGTGGAGTCGCCGCACTCTC	ASF1A	ENSG00000111875.8	transcript	ENST00000229595.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
ASGR2_chr17_7096326_7119822	7097672	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02257.hp1 others(1): Show HG01516.hp1 HG01517.hp1 HG02257.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0273 others(1): Show a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0002t0002g0108	4	432	0.0093	30	c.39 others(41): Show c.3902_*3903insCACACACACACACACACACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3653		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097674	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01993.hp2 HG02074.hp1 others(4): Show HG01516.hp2 HG01993.hp2 HG02074.hp1 HG02683.hp2 NA18985.hp1 NA19030.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0002g0103 a0001c0001t0003g0297 others(3): Show a0001c0001t0001g0003 a0001c0001t0002g0103 a0001c0001t0003g0297 a0001c0001t0005g0018 a0001c0001t0005g0272 a0001c0001t0005g0275	7	432	0.0162	30	c.39 others(41): Show c.3900_*3901insCACACACACACACACACACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3651		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	182	0.0055	30	c.600 others(49): Show c.6008+4161_6008+4162insATATATATATATATATATATATATAT ATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(23): Show AATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA20752.hp2 HG00621.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0045 a0001c0001t0024g0169 a0001c0001t0001g0045 a0001c0001t0024g0169	2	182	0.0110	30	c.600 others(49): Show c.6008+4157_6008+4158insATATATATATATATATATATATATAT TTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(23): Show AATATATATATATAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01175.hp2 HG01071.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0142 a0001c0001t0001g0145	2	182	0.0110	30	c.600 others(49): Show c.6008+4157_6008+4158insATATATATATATATATTTATATATAT ATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19012.hp1 HG02129.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0064 a0001c0001t0023g0159 a0001c0001t0001g0064 a0001c0001t0023g0159	2	182	0.0110	30	c.600 others(49): Show c.6008+4128_6008+4157dupATATATATATATATATATATATATAT ATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	330	0.0030	30	c.34 others(41): Show c.3420_*3421insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASIC1_chr12_50052596_50088611	50086479	T T	TTGGTGGT others(23): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02622.hp1 others(4): Show HG02258.hp1 HG02258.hp2 HG02622.hp1 HG02922.hp2 HG03486.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0004 a0001c0007t0001 a0001c0003t0004 a0001c0007t0001	a0001c0003t0004g0062 a0001c0003t0004g0063 a0001c0003t0004g0064 others(4): Show a0001c0003t0004g0062 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0070 a0001c0007t0001g0125 a0001c0007t0001g0126	7	324	0.0216	30	c.48 others(41): Show c.4830_*4831insTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding		2869		chr12	TogoVar
ASIP_chr20_34236423_34274344	34258674	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG00642.hp2 others(19): Show HG00140.hp2 HG00621.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01261.hp1 HG02735.hp2 HG03486.hp1 HG03831.hp2 HG03942.hp2 HG04228.hp1 NA18939.hp1 NA18945.hp1 NA18957.hp2 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18972.hp2 NA18995.hp1 NA19010.hp1 NA19086.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0023 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0003t0001g0023	22	306	0.0719	30	c.-10 others(47): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATA TA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258686	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	306	0.0033	30	c.-10 others(47): Show c.-10-1674_-10-1673insTATATATATATATATATATATATACATA TA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258688	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02683.hp2 NA18747.hp1 HG00609.hp2 HG02683.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0149	3	306	0.0098	30	c.-10 others(47): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATACA TA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar