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
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	185	0.0054	27	c.75 others(36): Show c.757_*758insAAAAAAATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636070	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	326	0.0031	27	c.75 others(36): Show c.756_*757insTATATATATATATATATATATATATAT	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		403		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196317474	T T	TGTGTGTT others(20): Show TGTGTGTTGTGTGGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	325	0.0031	27	c.113 others(42): Show c.113+565_113+566insCACACACACACACACCACACAACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317476	T T	TGTGTTGT others(20): Show TGTGTTGTGTGGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00741.hp1 others(13): Show HG00140.hp1 HG00621.hp2 HG00741.hp1 HG01256.hp1 HG02109.hp1 HG02486.hp2 HG02818.hp1 HG03195.hp2 HG03471.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 NA18945.hp2 NA18979.hp2 NA19070.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0138 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0003c0002t0001g0043	16	314	0.0510	27	c.113 others(42): Show c.113+563_113+564insCACACACACACACACACCACACAACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317478	T T	TGTTGTGT others(20): Show TGTTGTGTGGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01934.hp1 HG01981.hp1 others(1): Show HG01361.hp1 HG01934.hp1 HG01981.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0158 a0001c0001t0001g0017 a0001c0001t0001g0158	4	234	0.0171	27	c.113 others(42): Show c.113+561_113+562insCACACACACACACACACACCACACAAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37417532	T T	TTTCTTTT others(20): Show TTTCTTTTTCTTTTTCTTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01257.hp2 HG01258.hp2 others(7): Show HG00323.hp1 HG01257.hp2 HG01258.hp2 HG02895.hp2 HG02897.hp1 HG04199.hp1 HG04204.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0041 a0001c0001t0079 others(2): Show a0001c0001t0009 a0001c0001t0041 a0001c0001t0079 a0001c0001t0083 a0001c0001t0084	a0001c0001t0009g0273 a0001c0001t0009g0274 a0001c0001t0009g0275 others(7): Show a0001c0001t0009g0273 a0001c0001t0009g0274 a0001c0001t0009g0275 a0001c0001t0009g0278 a0001c0001t0009g0283 a0001c0001t0041g0297 a0001c0001t0041g0298 a0001c0001t0079g0286 a0001c0001t0083g0285 a0001c0001t0084g0284	10	321	0.0312	27	c.-76 others(44): Show c.-76-2765_-76-2764insCTTTTTCTTTTTCTTTTTCTTTTTCTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02683.hp2 NA18981.hp1 others(1): Show HG01070.hp2 HG02683.hp2 NA18981.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0103 others(1): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0103 a0001c0001t0105	a0001c0001t0004g0220 a0001c0001t0013g0153 a0001c0001t0103g0345 others(1): Show a0001c0001t0004g0220 a0001c0001t0013g0153 a0001c0001t0103g0345 a0001c0001t0105g0030	4	69	0.0580	27	c.10+ others(44): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71618348	G G	GGTGGCAT others(20): Show GGTGGCATGTGTGGTAGAGGTGGTGTGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0015 a0015	a0015c0036 a0015c0036	a0015c0036t0001 a0015c0036t0001	a0015c0036t0001g0120 a0015c0036t0001g0120	1	190	0.0053	27	c.441 others(46): Show c.4410+4939_4410+4940insTGGCATGTGTGGTAGAGGTGGTGTGT G	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618348	G G	GGTGGCAT others(20): Show GGTGGCATGTGTGGTAGAGGTGGTGTGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0016 a0016	a0016c0038 a0016c0038	a0016c0038t0001 a0016c0038t0001	a0016c0038t0001g0015 a0016c0038t0001g0015	1	206	0.0049	27	c.446 others(46): Show c.4465-2198_4465-2197insTGGCATGTGTGGTAGAGGTGGTGTGT G	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYTN_chr2_206646621_206723396	206721150	C C	CAATAATA others(20): Show CAATAATAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03516.hp1 HG02559.hp1 HG03516.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0345 a0006c0008t0001g0202 a0001c0001t0001g0345 a0006c0008t0001g0202	2	154	0.0130	27	c.-28 others(38): Show c.-2898_-2872dupATTATTATTATTATTATTATTATTATT	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding		2755		chr2	TogoVar
DZIP3_chr3_108584722_108699840	108633842	C C	CTGGATCT others(20): Show CTGGATCTATCAGAGTACTTCTGATAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01192.hp1 others(8): Show HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG03239.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0009 a0002c0003t0001 a0001c0001t0001 a0001c0001t0009 a0002c0003t0001	a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 others(8): Show a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0009g0207 a0002c0003t0001g0217	11	315	0.0349	27	c.816 others(42): Show c.816+771_816+772insGGATCTATCAGAGTACTTCTGATAGAT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F3_chr6_20396879_20498714	20467863	A A	ATGCCACT others(20): Show ATGCCACTCCATACCATGGGTATGGAGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG02886.hp2 others(3): Show HG02257.hp2 HG02809.hp2 HG02886.hp2 HG03209.hp1 HG03453.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0001g0118 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0307 a0001c0001t0017g0306	6	334	0.0180	27	c.394 others(46): Show c.394-11962_394-11936dupATGGAGCTGCCACTCCATACCATGGG T	E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F6_chr2_11439375_11471161	11468851	A A	AATTATAT others(20): Show AATTATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02698.hp1 HG01081.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0017 a0001c0001t0001g0032	2	305	0.0066	27	c.-29 others(38): Show c.-2973_-2972insATATATATATATATATATATATATAAT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2691		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	117	0.0085	27	c.-29 others(38): Show c.-2977_-2976insATATATATATATATATATATTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0282 a0001c0001t0036g0282	1	49	0.0204	27	c.554 others(46): Show c.554+39580_554+39606dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBI3_chr19_4224523_4242528	4235319	C C	CTTTATTG others(20): Show CTTTATTGATTGATTGATTGAAACAAGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02486.hp1 others(14): Show HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 others(6): Show a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0002g0157 a0002c0002t0002g0201	17	436	0.0390	27	c.537 others(42): Show c.537+497_537+523dupTTATTGATTGATTGATTGAAACAAGGT	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18995.hp2 NA18951.hp1 NA18995.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0016 a0003c0004t0002g0063 a0003c0004t0002g0016 a0003c0004t0002g0063	2	250	0.0080	27	c.-28 others(44): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(20): Show CTTCCTTCCTTCCTTCCTTCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0008 a0001c0003t0004g0008	1	140	0.0071	27	c.62- others(42): Show c.62-3339_62-3338insCTTCCTTCCTTCCTTCTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDIL3_chr5_83935554_84389880	84132287	G G	GTATATAT others(20): Show GTATATATTTTATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG01993.hp1 others(2): Show HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02148.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0103 a0001c0001t0001g0142 a0001c0001t0003g0133 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0142 a0001c0001t0003g0133 a0001c0001t0008g0091 a0001c0002t0001g0143	5	156	0.0321	27	c.469 others(44): Show c.469+4927_469+4953dupTAATATATATTATATATAAAATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84132527	A A	ATTATATA others(20): Show ATTATATATTTTATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0001 a0001c0002t0011g0001	1	156	0.0064	27	c.469 others(44): Show c.469+4687_469+4713dupAATATATATTATATATAAAATATATAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	18	0.0556	27	c.196 others(44): Show c.196+1590_196+1591insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124765988	A A	AATAATTT others(20): Show AATAATTTGGAAATTATTAGTTGGAATT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0285 a0001c0001t0005g0285	1	356	0.0028	27	c.400 others(42): Show c.400-381_400-380insAATTCCAACTAATAATTTCCAAATTAT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CACAAAAA others(20): Show CACAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02040.hp2 HG03490.hp2 others(1): Show HG00323.hp1 HG02040.hp2 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0077 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0077 a0001c0001t0006g0060	4	196	0.0204	27	c.400 others(44): Show c.400-3611_400-3610insTTTTTTTTTTTTTTTTTTTTTTTTTGT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0323 a0001c0001t0004g0323	1	184	0.0054	27	c.400 others(44): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184250200	T T	TCAAGTCC others(20): Show TCAAGTCCTAGCGCTAATTGACTTGTAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0148 a0003c0004t0001g0148	1	376	0.0027	27	c.196 others(42): Show c.196+311_196+337dupCAAGTCCTAGCGCTAATTGACTTGTAA	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCGCCCCC others(20): Show CCGCCCCCCCGCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	220	0.0045	27	c.-51 others(36): Show c.-517_-516insCGCCCCCCCGCCCCCCCCGCCCCCCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEIG2_chr1_108555100_108644322	108579796	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	265	0.0038	27	c.137 others(46): Show c.137+19231_137+19232insGAGAGAGAGAGAGAGAGAGAGAGAGA G	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10			chr1	TogoVar
EEPD1_chr7_36148254_36306538	36183888	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18983.hp1 NA19009.hp2 HG01167.hp2 NA18983.hp1 NA19009.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0017 a0003c0002t0020 a0003c0002t0021 a0003c0002t0017 a0003c0002t0020 a0003c0002t0021	a0003c0002t0017g0018 a0003c0002t0020g0057 a0003c0002t0021g0226 a0003c0002t0017g0018 a0003c0002t0020g0057 a0003c0002t0021g0226	3	15	0.2000	27	c.878 others(46): Show c.878+28686_878+28687insTTTTTTTTTTTTTTTTTTTTTTTTTT G	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	243	0.0041	27	c.107 others(42): Show c.107-670_107-669insATATATATATATATATTTTTTTTTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	243	0.0041	27	c.107 others(42): Show c.107-670_107-669insATATATATATATATATATATATTTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	243	0.0041	27	c.107 others(42): Show c.107-670_107-669insATATATATATATATATATATATATTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB13_chr17_47318955_47446312	47351848	A A	ATTCTTTG others(20): Show ATTCTTTGCCTAGACCAATGTCATTGAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0303 a0002c0002t0001g0303	1	354	0.0028	27	c.661 others(44): Show c.661+3919_661+3920insTTGATTTCTTTGCCTAGACCAATGTCA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0154 a0007c0007t0001g0155	2	48	0.0417	27	c.303 others(46): Show c.3032+3733_3032+3734insAAAAAAAAAAAAAAAAAAAAAAAAAA A	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32875502	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0125 a0003c0003t0001g0125	1	189	0.0053	27	c.209 others(42): Show c.209-406_209-405insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHB_chr3_19874472_19939217	19908605	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0023 a0023	a0023c0030 a0023c0030	a0023c0030t0001 a0023c0030t0001	a0023c0030t0001g0115 a0023c0030t0001g0115	1	342	0.0029	27	c.128 others(46): Show c.1289-2857_1289-2856insCTCTCTCTCTCTCTCTCTCTCTCTCT C	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52472636	T T	TCATACAA others(20): Show TCATACAAGAGATATGTAATATCTTTTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18962.hp1 NA18973.hp1 others(2): Show NA18612.hp2 NA18962.hp1 NA18973.hp1 NA18993.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0255 a0001c0001t0002g0256 others(2): Show a0001c0001t0002g0226 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0263	5	226	0.0221	27	c.127 others(46): Show c.1278+3263_1278+3289dupTATCTTTTACATACAAGAGATATGTA A	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
EFNA2_chr19_1280873_1306431	1282621	G G	GGGGAGGA others(20): Show GGGGAGGAGGGAGGGAGGAGGGTGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 NA19083.hp1 HG02451.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0018 a0001c0001t0025g0124 a0001c0001t0001g0018 a0001c0001t0025g0124	2	287	0.0070	27	c.-35 others(38): Show c.-3548_-3547insGGGAGGAGGGAGGGAGGAGGGTGTGAA	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3251		chr19	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 NA18944.hp2 NA18970.hp2 others(2): Show HG02818.hp1 NA18944.hp2 NA18970.hp2 NA18985.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0003 a0003c0004t0008 a0003c0004t0017 a0001c0003t0003 a0003c0004t0008 a0003c0004t0017	a0001c0003t0003g0007 a0001c0003t0003g0037 a0001c0003t0003g0067 others(2): Show a0001c0003t0003g0007 a0001c0003t0003g0037 a0001c0003t0003g0067 a0003c0004t0008g0096 a0003c0004t0017g0282	5	32	0.1563	27	c.72 others(38): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01361.hp1 HG01358.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0040 a0001c0001t0003 a0001c0001t0040	a0001c0001t0003g0104 a0001c0001t0040g0103 a0001c0001t0003g0104 a0001c0001t0040g0103	2	53	0.0377	27	c.7+4 others(40): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04228.hp1 NA20752.hp1 HG03927.hp1 HG04228.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0013 a0002c0038 a0001c0004 a0001c0013 a0002c0038	a0001c0004t0001 a0001c0013t0001 a0002c0038t0001 a0001c0004t0001 a0001c0013t0001 a0002c0038t0001	a0001c0004t0001g0053 a0001c0013t0001g0025 a0002c0038t0001g0092 a0001c0004t0001g0053 a0001c0013t0001g0025 a0002c0038t0001g0092	3	22	0.1364	27	c.270 others(46): Show c.2702-2524_2702-2523insTTTTTTTTTTTTTTTTTTTTTTTTTT T	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109932377	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19082.hp1 NA18945.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0113 a0001c0001t0006g0114 a0001c0001t0002g0113 a0001c0001t0006g0114	2	378	0.0053	27	c.128 others(44): Show c.128-8569_128-8568insTATATATATATATATATATATATATAT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EHBP1_chr2_62700713_63051487	62887070	C C	CTGTGACA others(20): Show CTGTGACAGTATAATATATAATACTATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	196	0.0051	27	c.118 others(48): Show c.1185+12539_1185+12540insGTGACAGTATAATATATAATACTA TAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0292 a0001c0002t0003g0292	1	282	0.0035	27	c.915 others(44): Show c.915+5056_915+5057insAAAAAAATATATATATATATATATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31245553	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0220 a0001c0001t0020g0220	1	335	0.0030	27	c.404 others(44): Show c.404+1104_404+1105insATATATATATATATATATATTTTTTTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD3_chr2_31229152_31274451	31245554	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0194 a0001c0003t0019g0194	1	366	0.0027	27	c.404 others(44): Show c.404+1104_404+1105insATATATATATATATATATATATATATA	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5			chr2	TogoVar
EHHADH_chr3_185185624_185259049	185194800	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0211 a0007c0008t0001g0211	1	6	0.1667	27	c.911 others(44): Show c.911-1340_911-1314dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	6/6			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137716398	A A	ATGGTGGG others(20): Show ATGGTGGGGGGAGGAAATTGTGGTGTCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0159 a0001c0006t0001g0159	1	168	0.0060	27	c.86- others(40): Show c.86-219_86-218insGAGGAAATTGTGGTGTCGTGGTGGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716456	A A	ATGGTGGG others(20): Show ATGGTGGGGGGAGGAAATTGTGGTGTCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0159 a0001c0006t0001g0159	1	168	0.0060	27	c.86- others(40): Show c.86-161_86-160insGAGGAAATTGTGGTGTCGTGGTGGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780150	G G	GCTGAGAT others(20): Show GCTGAGATGTGTGGTGATGACGGCATCA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	167	0.0060	27	c.227 others(44): Show c.2275+455_2275+481dupGCATCACTGAGATGTGTGGTGATGACG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780296	A A	ACGCTGAG others(20): Show ACGCTGAGATGTGTGGTGATGACGGCAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	168	0.0060	27	c.227 others(44): Show c.2275+581_2275+607dupGCTGAGATGTGTGGTGATGACGGCATC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar

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