Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DNER_chr2_229352629_229719555	229505177	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp2 NA19043.hp1 HG03453.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0098 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0098	3	176	0.0171	20	c.114 others(39): Show c.1147+7586_1147+7605dupACACACACACACACACACAC	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	6/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229546822	C C	CAGATAGA others(13): Show CAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG02559.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0002g0132 a0001c0001t0001g0063 a0001c0001t0002g0132	2	176	0.0114	20	c.993 others(35): Show c.993+124_993+125insATCTATCTATCTATCTATCT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	5/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229554941	A A	AAAGGGAA others(13): Show AAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02818.hp2 others(9): Show HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp2 HG03453.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp1 NA18612.hp1 NA18994.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 a0001c0001t0001 a0001c0002t0001 a0001c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0051 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0002t0001g0152 a0001c0002t0001g0156 a0001c0002t0001g0168 a0001c0015t0001g0169	12	176	0.0682	20	c.848 others(37): Show c.848-7869_848-7850dupCCCTTCCCTTCCCTTCCCTT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DNM1_chr9_128198379_128260244	128220738	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0324 a0001c0003t0001g0324	1	350	0.0029	20	c.849 others(35): Show c.849+398_849+399insTGTGTGTGTGTGTGTGTGTG	DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM1_chr9_128198379_128260244	128220885	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02074.hp1 HG03490.hp1 others(4): Show HG02027.hp2 HG02074.hp1 HG03490.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0006 a0001c0002 a0001c0004 a0002c0006	a0001c0002t0001 a0001c0004t0001 a0002c0006t0001 a0001c0002t0001 a0001c0004t0001 a0002c0006t0001	a0001c0002t0001g0121 a0001c0002t0001g0137 a0001c0002t0001g0202 others(4): Show a0001c0002t0001g0121 a0001c0002t0001g0137 a0001c0002t0001g0202 a0001c0002t0001g0210 a0001c0002t0001g0312 a0001c0004t0001g0205 a0002c0006t0001g0295	7	350	0.0200	20	c.849 others(35): Show c.849+576_849+595dupCTTTCTTTCTTTCTTTCTTT	DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM2_chr19_10713079_10836903	10760827	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 NA19067.hp1 others(1): Show HG00408.hp2 HG00597.hp1 NA19067.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0013 a0001c0002t0002 a0001c0002t0013	a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0002g0084 others(1): Show a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0002g0084 a0001c0002t0013g0263	4	278	0.0144	20	c.235 others(37): Show c.235+1033_235+1034insTTTTTTTTTTTTTTTTTTTT	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM3_chr1_171836498_172417717	172071086	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG02109.hp1 others(3): Show HG00323.hp2 HG01081.hp2 HG02109.hp1 HG02273.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0006t0005	a0001c0001t0002g0050 a0001c0001t0013g0049 a0001c0002t0001g0026 others(3): Show a0001c0001t0002g0050 a0001c0001t0013g0049 a0001c0002t0001g0026 a0001c0002t0003g0058 a0001c0002t0004g0024 a0001c0006t0005g0103	6	136	0.0441	20	c.142 others(39): Show c.1422+2196_1422+2215dupATATATATATATATATATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172227271	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03486.hp1 HG03704.hp1 others(1): Show HG01496.hp2 HG03486.hp1 HG03704.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0005 a0001c0001t0014 a0001c0002t0001 others(1): Show a0001c0001t0005 a0001c0001t0014 a0001c0002t0001 a0001c0006t0005	a0001c0001t0005g0063 a0001c0001t0014g0004 a0001c0002t0001g0111 others(1): Show a0001c0001t0005g0063 a0001c0001t0014g0004 a0001c0002t0001g0111 a0001c0006t0005g0103	4	136	0.0294	20	c.166 others(41): Show c.1660-26287_1660-26268dupATATATATATATATATATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172276557	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0108 a0001c0002t0011g0108	1	136	0.0074	20	c.176 others(41): Show c.1769+22885_1769+22904dupGTGTGTGTGTGTGTGTGTGT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304206	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 NA18977.hp2 HG02965.hp2 HG03195.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0003 a0001c0002t0004 a0001c0010t0005 a0001c0002t0003 a0001c0002t0004 a0001c0010t0005	a0001c0002t0003g0053 a0001c0002t0004g0014 a0001c0010t0005g0131 a0001c0002t0003g0053 a0001c0002t0004g0014 a0001c0010t0005g0131	3	136	0.0221	20	c.177 others(39): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAAAAAAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304213	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0049	1	136	0.0074	20	c.177 others(39): Show c.1770-4506_1770-4505insAAAAAAAAAACAAAAAAAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304218	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	136	0.0074	20	c.177 others(39): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAAACAAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304222	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	136	0.0074	20	c.177 others(39): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAAAAAAAC	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20			chr1	TogoVar
DNM3_chr1_171836498_172417717	172354110	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0103 a0001c0006t0005g0103	1	136	0.0074	20	c.189 others(41): Show c.1894-24907_1894-24906insAGAGAGAGAGAGAGAGAGAG	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172354112	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03209.hp2 HG02071.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0006 a0001c0001t0003 a0001c0002t0006	a0001c0001t0003g0043 a0001c0002t0006g0013 a0001c0001t0003g0043 a0001c0002t0006g0013	2	136	0.0147	20	c.189 others(41): Show c.1894-24895_1894-24876dupGAGAGAGAGAGAGAGAGAGA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172354112	T T	TGTGAGAG others(13): Show TGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG01109.hp2 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0021 a0001c0002t0004 a0001c0002t0021	a0001c0002t0004g0046 a0001c0002t0021g0077 a0001c0002t0004g0046 a0001c0002t0021g0077	2	136	0.0147	20	c.189 others(41): Show c.1894-24905_1894-24904insTGAGAGAGAGAGAGAGAGAG	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172377553	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02080.hp2 HG02630.hp1 others(2): Show HG01256.hp2 HG02080.hp2 HG02630.hp1 HG03704.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0001t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0081 a0001c0001t0001g0100 a0001c0001t0014g0004 others(2): Show a0001c0001t0001g0081 a0001c0001t0001g0100 a0001c0001t0014g0004 a0001c0002t0001g0067 a0001c0002t0001g0104	5	136	0.0368	20	c.189 others(39): Show c.1894-1456_1894-1437dupATATATATATATATATATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNMBP_chr10_99870577_100014947	99879084	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03834.hp1 HG02897.hp1 HG03834.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0265 a0001c0009t0005g0272 a0001c0009t0005g0265 a0001c0009t0005g0272	2	274	0.0073	20	c.454 others(37): Show c.4548+726_4548+727insTTTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99879101	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA21309.hp1 HG06807.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0005 a0001c0006 a0003c0005	a0001c0006t0004 a0003c0005t0004 a0001c0006t0004 a0003c0005t0004	a0001c0006t0004g0169 a0003c0005t0004g0134 a0001c0006t0004g0169 a0003c0005t0004g0134	2	274	0.0073	20	c.454 others(37): Show c.4548+709_4548+710insGTTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99883155	G G	GTTCTGAA others(13): Show GTTCTGAAAAAAATCCTTGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(135): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp2 NA18978.hp2 NA18982.hp1 NA18985.hp1 NA18998.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0012 a0013 a0016	a0001c0006 a0001c0009 a0001c0011 others(15): Show a0001c0006 a0001c0009 a0001c0011 a0001c0018 a0001c0032 a0002c0002 a0002c0007 a0002c0010 a0002c0013 a0002c0031 a0003c0005 a0004c0014 a0006c0019 a0008c0026 a0009c0021 a0012c0027 a0013c0025 a0016c0030	a0001c0006t0001 a0001c0006t0004 a0001c0006t0009 others(32): Show a0001c0006t0001 a0001c0006t0004 a0001c0006t0009 a0001c0006t0010 a0001c0006t0011 a0001c0006t0019 a0001c0006t0024 a0001c0009t0005 a0001c0011t0001 a0001c0011t0004 a0001c0011t0006 a0001c0011t0011 a0001c0018t0001 a0001c0018t0004 a0001c0032t0018 a0002c0002t0001 a0002c0002t0008 a0002c0002t0021 a0002c0002t0022 a0002c0007t0001 a0002c0007t0008 a0002c0007t0020 a0002c0007t0023 a0002c0010t0001 a0002c0013t0001 a0002c0031t0001 a0003c0005t0004 a0003c0005t0010 a0004c0014t0006 a0006c0019t0001 a0008c0026t0001 a0009c0021t0006 a0012c0027t0017 a0013c0025t0016 a0016c0030t0001	a0001c0006t0001g0121 a0001c0006t0001g0244 a0001c0006t0004g0123 others(135): Show a0001c0006t0001g0121 a0001c0006t0001g0244 a0001c0006t0004g0123 a0001c0006t0004g0169 a0001c0006t0004g0183 a0001c0006t0004g0242 a0001c0006t0004g0243 a0001c0006t0004g0252 a0001c0006t0004g0253 a0001c0006t0009g0216 a0001c0006t0009g0217 a0001c0006t0010g0230 a0001c0006t0011g0120 a0001c0006t0019g0167 a0001c0006t0024g0166 a0001c0009t0005g0168 a0001c0009t0005g0236 a0001c0009t0005g0251 a0001c0009t0005g0265 a0001c0009t0005g0270 a0001c0009t0005g0272 a0001c0009t0005g0273 a0001c0011t0001g0007 a0001c0011t0001g0163 a0001c0011t0001g0227 a0001c0011t0004g0012 a0001c0011t0006g0088 a0001c0011t0011g0153 a0001c0018t0001g0238 a0001c0018t0004g0249 a0001c0032t0018g0228 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0122 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0229 a0002c0002t0001g0234 a0002c0002t0001g0237 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0250 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0267 a0002c0002t0008g0207 a0002c0002t0008g0218 a0002c0002t0021g0223 a0002c0002t0022g0206 a0002c0007t0001g0006 a0002c0007t0001g0020 a0002c0007t0001g0036 a0002c0007t0001g0038 a0002c0007t0001g0045 a0002c0007t0001g0061 a0002c0007t0001g0063 a0002c0007t0001g0108 a0002c0007t0001g0109 a0002c0007t0008g0086 a0002c0007t0020g0085 a0002c0007t0023g0099 a0002c0010t0001g0029 a0002c0010t0001g0035 a0002c0010t0001g0049 a0002c0010t0001g0187 a0002c0010t0001g0195 a0002c0010t0001g0200 a0002c0010t0001g0202 a0002c0013t0001g0008 a0002c0013t0001g0013 a0002c0013t0001g0140 a0002c0031t0001g0069 a0003c0005t0004g0026 a0003c0005t0004g0124 a0003c0005t0004g0125 a0003c0005t0004g0127 a0003c0005t0004g0128 a0003c0005t0004g0131 a0003c0005t0004g0132 a0003c0005t0004g0133 a0003c0005t0004g0134 a0003c0005t0004g0135 a0003c0005t0004g0136 a0003c0005t0004g0137 a0003c0005t0004g0139 a0003c0005t0004g0141 a0003c0005t0004g0142 a0003c0005t0010g0138 a0004c0014t0006g0117 a0004c0014t0006g0118 a0004c0014t0006g0119 a0006c0019t0001g0148 a0006c0019t0001g0149 a0008c0026t0001g0199 a0009c0021t0006g0087 a0012c0027t0017g0215 a0013c0025t0016g0219 a0016c0030t0001g0129	138	274	0.5037	20	c.399 others(37): Show c.3997+855_3997+856insAACAAGGATTTTTTTCAGAA	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	15/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99970971	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00621.hp1 others(10): Show HG00099.hp1 HG00558.hp1 HG00621.hp1 HG01175.hp1 HG01255.hp1 HG01884.hp1 HG01928.hp2 HG01981.hp1 HG02083.hp1 NA18971.hp2 NA19001.hp2 NA19004.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0002 a0001c0003 a0001c0006 a0002c0002	a0001c0003t0002 a0001c0006t0004 a0002c0002t0001 others(1): Show a0001c0003t0002 a0001c0006t0004 a0002c0002t0001 a0002c0002t0008	a0001c0003t0002g0191 a0001c0006t0004g0242 a0002c0002t0001g0172 others(10): Show a0001c0003t0002g0191 a0001c0006t0004g0242 a0002c0002t0001g0172 a0002c0002t0001g0179 a0002c0002t0001g0188 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0203 a0002c0002t0001g0214 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0246 a0002c0002t0008g0218	13	274	0.0475	20	c.145 others(36): Show c.145+989_145+1008dupTTTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	2/16			chr10	TogoVar
DNMT1_chr19_10128346_10199953	10152160	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0001 a0003c0027t0001	a0003c0027t0001g0088 a0003c0027t0001g0088	1	386	0.0026	20	c.202 others(37): Show c.2020-333_2020-314dupTTTTTTTTTTTTTTTTTTTT	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	22/40			chr19	TogoVar
DNMT3A_chr2_25222874_25346925	25226707	C C	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00609.hp1 others(32): Show HG00099.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02132.hp1 HG02165.hp2 HG02976.hp1 HG03540.hp1 HG03710.hp1 HG04199.hp2 NA18960.hp1 NA18979.hp2 NA18984.hp2 NA18985.hp1 NA19005.hp2 NA19055.hp1 NA19060.hp1 NA19074.hp1 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(25): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0099 a0001c0001t0101 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0114 a0001c0001t0135 a0001c0002t0004 a0001c0003t0025 a0001c0008t0113 a0001c0009t0004 a0001c0010t0003	a0001c0001t0003g0024 a0001c0001t0003g0032 a0001c0001t0003g0037 others(32): Show a0001c0001t0003g0024 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0140 a0001c0001t0004g0031 a0001c0001t0004g0112 a0001c0001t0010g0151 a0001c0001t0010g0153 a0001c0001t0010g0166 a0001c0001t0024g0109 a0001c0001t0025g0152 a0001c0001t0026g0025 a0001c0001t0027g0068 a0001c0001t0027g0069 a0001c0001t0051g0027 a0001c0001t0052g0131 a0001c0001t0053g0043 a0001c0001t0054g0189 a0001c0001t0058g0179 a0001c0001t0059g0215 a0001c0001t0060g0041 a0001c0001t0061g0008 a0001c0001t0063g0281 a0001c0001t0099g0176 a0001c0001t0101g0168 a0001c0001t0109g0206 a0001c0001t0110g0162 a0001c0001t0111g0082 a0001c0001t0114g0130 a0001c0001t0135g0228 a0001c0002t0004g0015 a0001c0003t0025g0290 a0001c0008t0113g0026 a0001c0009t0004g0278 a0001c0010t0003g0021	35	294	0.1191	20	c.75 others(31): Show c.7571_*7572insAAATAAATAAATAAATAAAT	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding		1166		chr2	TogoVar
DNMT3A_chr2_25222874_25346925	25256673	C C	CCCCTTCT others(13): Show CCCCTTCTGTCCCTTATCTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp1 others(14): Show HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG02074.hp2 HG02135.hp1 NA18942.hp1 NA18957.hp2 NA18959.hp1 NA18974.hp2 NA18986.hp1 NA18995.hp2 NA18997.hp2 NA19012.hp1 NA19058.hp1 NA19066.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0067 a0001c0001t0072 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0084 a0001c0001t0103	a0001c0001t0001g0173 a0001c0001t0001g0256 a0001c0001t0001g0263 others(14): Show a0001c0001t0001g0173 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0292 a0001c0001t0005g0175 a0001c0001t0031g0046 a0001c0001t0032g0080 a0001c0001t0033g0268 a0001c0001t0067g0267 a0001c0001t0072g0190 a0001c0001t0076g0107 a0001c0001t0078g0260 a0001c0001t0079g0127 a0001c0001t0081g0270 a0001c0001t0084g0167 a0001c0001t0103g0259	17	294	0.0578	20	c.640 others(37): Show c.640-8441_640-8422dupAAAGATAAGGGACAGAAGGG	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	6/22			chr2	TogoVar
DNMT3A_chr2_25222874_25346925	25278042	C C	CACACACA others(13): Show CACACACACACACACAAACAG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19043.hp1 NA19077.hp2 NA18973.hp2 NA19043.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0089 a0001c0001t0091 a0001c0003t0014 a0001c0001t0089 a0001c0001t0091 a0001c0003t0014	a0001c0001t0089g0065 a0001c0001t0091g0154 a0001c0003t0014g0088 a0001c0001t0089g0065 a0001c0001t0091g0154 a0001c0003t0014g0088	3	294	0.0102	20	c.449 others(37): Show c.449-2500_449-2499insCTGTTTGTGTGTGTGTGTGT	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	4/22			chr2	TogoVar
DNMT3L_chr21_44241339_44266897	44242077	A A	AAATATCT others(13): Show AAATATCTAGAAAAATCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	392	0.0026	20	c.43 others(31): Show c.4319_*4320insGGGGGATTTTTCTAGATATT	DNMT3L	ENSG00000142182.9	transcript	ENST00000628202.3	protein_coding		4261		chr21	TogoVar
DNMT3L_chr21_44241339_44266897	44264587	C C	CTTTTGTT others(13): Show CTTTTGTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG01109.hp2 others(34): Show HG00423.hp2 HG00673.hp2 HG01109.hp2 HG02040.hp2 HG02080.hp2 HG02129.hp2 HG02165.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03710.hp2 HG03927.hp1 NA18612.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18980.hp2 NA19004.hp2 NA19056.hp2 NA19066.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0053 others(20): Show a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0003t0001g0006 a0001c0003t0001g0010 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0072 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0253	37	392	0.0944	20	c.-28 others(31): Show c.-2856_-2855insCAAAACAAAACAAAACAAAA	DNMT3L	ENSG00000142182.9	transcript	ENST00000628202.3	protein_coding		2691		chr21	TogoVar
DNPEP_chr2_219367043_219392912	219369629	A A	ACACACAC others(13): Show ACACACACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 NA19030.hp2 NA19043.hp1 HG01891.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0041 a0001c0001t0008g0068 a0001c0001t0008g0041 a0001c0001t0008g0068	3	370	0.0081	20	c.46 others(31): Show c.4662_*4663insCGTGTGTGTGTGTGTGTGTG	DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding		2413		chr2	TogoVar
DNPEP_chr2_219367043_219392912	219370143	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02630.hp2 others(4): Show HG01884.hp2 HG02257.hp2 HG02630.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0002c0003t0009	a0001c0001t0003g0026 a0001c0001t0003g0034 a0001c0001t0003g0036 others(3): Show a0001c0001t0003g0026 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0005g0119 a0001c0001t0019g0070 a0002c0003t0009g0079	7	370	0.0189	20	c.41 others(31): Show c.4148_*4149insTTTTTTTTTTTTTTTTTTTT	DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding		1899		chr2	TogoVar
DNPEP_chr2_219367043_219392912	219380842	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(104): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18974.hp1 NA18982.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19060.hp1 NA19068.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0004c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0002g0011 a0001c0001t0002g0100 a0001c0001t0005g0097 a0001c0001t0005g0119 a0001c0001t0011g0098 a0001c0001t0011g0140 a0001c0001t0013g0136 a0001c0001t0015g0141 a0001c0001t0016g0142 a0004c0010t0001g0162	107	370	0.2892	20	c.123 others(37): Show c.1239+473_1239+492dupGTGTGTGTGTGTGTGTGTGT	DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding	13/14			chr2	TogoVar
DNPEP_chr2_219367043_219392912	219389832	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG00733.hp2 others(40): Show HG00544.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01169.hp1 HG01175.hp1 HG01884.hp1 HG01952.hp2 HG02074.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03927.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0011 a0002c0003 others(1): Show a0001c0001 a0001c0011 a0002c0003 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 a0001c0011t0001 a0002c0003t0005 a0002c0003t0018 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0002g0002 a0001c0001t0002g0107 a0001c0001t0002g0144 a0001c0001t0005g0097 a0001c0001t0005g0119 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0011g0098 a0001c0001t0021g0084 a0001c0011t0001g0166 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0018g0078 a0006c0008t0001g0051	43	370	0.1162	20	c.-20 others(31): Show c.-2039_-2038insTATTTATTTATTTATTTATT	DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding		1921		chr2	TogoVar
DNTTIP1_chr20_45786954_45816418	45814271	C C	CATATATA others(13): Show CATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01257.hp2 HG01258.hp1 others(3): Show HG01081.hp1 HG01257.hp2 HG01258.hp1 HG02109.hp1 HG03540.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0054 a0001c0001t0002g0177 others(2): Show a0001c0001t0001g0147 a0001c0001t0002g0054 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0207	6	412	0.0146	20	c.30 others(31): Show c.3076_*3077insATATATATATATATATATAT	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding		2854		chr20	TogoVar
DNTT_chr10_96299434_96343564	96307703	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	330	0.0030	20	c.203 others(37): Show c.203+3004_203+3005insATATATATATATATATATAT	DNTT	ENSG00000107447.8	transcript	ENST00000371174.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK10_chr2_224760090_225047468	224830920	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01257.hp1 others(11): Show HG00639.hp1 HG01175.hp1 HG01257.hp1 HG01516.hp1 HG02280.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0017	a0001c0006 a0001c0020 a0002c0002 others(4): Show a0001c0006 a0001c0020 a0002c0002 a0002c0009 a0002c0015 a0011c0023 a0017c0025	a0001c0006t0001 a0001c0006t0004 a0001c0020t0002 others(5): Show a0001c0006t0001 a0001c0006t0004 a0001c0020t0002 a0002c0002t0001 a0002c0009t0001 a0002c0015t0001 a0011c0023t0001 a0017c0025t0001	a0001c0006t0001g0136 a0001c0006t0004g0003 a0001c0006t0004g0014 others(11): Show a0001c0006t0001g0136 a0001c0006t0004g0003 a0001c0006t0004g0014 a0001c0020t0002g0054 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0139 a0002c0002t0001g0168 a0002c0009t0001g0079 a0002c0015t0001g0045 a0011c0023t0001g0047 a0017c0025t0001g0167	14	172	0.0814	20	c.296 others(37): Show c.2965-328_2965-309dupTAAATAAATAAATAAATAAA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	26/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224892427	G G	GAAAGAAA others(13): Show GAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19012.hp1 HG02027.hp2 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0145 a0002c0002t0001g0126 a0002c0002t0001g0145	2	172	0.0116	20	c.416 others(37): Show c.416+3848_416+3867dupTCTTTTCTTTTCTTTTCTTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	4/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224892446	G G	GAAAAGAA others(13): Show GAAAAGAAAAGAAAAGAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	172	0.0058	20	c.416 others(37): Show c.416+3848_416+3849insTTTTTCTTTTCTTTTCTTTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	4/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224918786	A A	ATGTGAGT others(13): Show ATGTGAGTGTGGTAGTGTATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(32): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00621.hp1 HG01081.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp2 HG01433.hp2 HG01516.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02257.hp1 HG02630.hp1 HG02717.hp1 HG02738.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03942.hp1 HG04199.hp1 NA18945.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18968.hp1 NA18970.hp2 NA18983.hp1 NA18991.hp1 NA19063.hp1 NA19066.hp1 NA19079.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0004 a0001c0006 others(6): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0002c0003 a0002c0030 a0004c0013 a0004c0034 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0004t0002 a0001c0006t0001 a0001c0006t0004 a0002c0002t0001 a0002c0003t0001 a0002c0030t0001 a0004c0013t0006 a0004c0034t0003 a0006c0010t0002 a0006c0010t0007	a0001c0001t0001g0051 a0001c0001t0001g0144 a0001c0001t0002g0085 others(32): Show a0001c0001t0001g0051 a0001c0001t0001g0144 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0131 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0119 a0001c0001t0003g0135 a0001c0001t0003g0140 a0001c0001t0003g0146 a0001c0001t0005g0007 a0001c0001t0005g0011 a0001c0001t0005g0024 a0001c0001t0005g0028 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0006g0020 a0001c0001t0011g0009 a0001c0004t0002g0091 a0001c0006t0001g0136 a0001c0006t0004g0003 a0002c0002t0001g0145 a0002c0002t0001g0158 a0002c0003t0001g0152 a0002c0030t0001g0149 a0004c0013t0006g0036 a0004c0034t0003g0132 a0006c0010t0002g0096 a0006c0010t0007g0098	35	172	0.2035	20	c.244 others(37): Show c.244-2022_244-2003dupCATACACTACCACACTCACA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921104	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	172	0.0058	20	c.244 others(37): Show c.244-4321_244-4320insATATATATATATATATATAT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0127 a0001c0001t0009g0127	1	172	0.0058	20	c.244 others(37): Show c.244-4329_244-4328insATATATATATATATATATTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224961412	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01884.hp2 HG01975.hp1 others(12): Show HG01516.hp2 HG01884.hp2 HG01975.hp1 HG02647.hp2 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG03041.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0009 a0012 a0014 a0017	a0001c0001 a0002c0002 a0002c0003 others(7): Show a0001c0001 a0002c0002 a0002c0003 a0002c0007 a0002c0022 a0007c0011 a0009c0027 a0012c0032 a0014c0024 a0017c0025	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(9): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0003t0002 a0002c0007t0003 a0002c0022t0004 a0007c0011t0001 a0009c0027t0005 a0012c0032t0016 a0014c0024t0007 a0017c0025t0001	a0001c0001t0001g0056 a0002c0002t0001g0062 a0002c0002t0003g0086 others(12): Show a0001c0001t0001g0056 a0002c0002t0001g0062 a0002c0002t0003g0086 a0002c0002t0003g0155 a0002c0003t0001g0059 a0002c0003t0002g0055 a0002c0007t0003g0073 a0002c0007t0003g0077 a0002c0007t0003g0082 a0002c0022t0004g0031 a0007c0011t0001g0170 a0009c0027t0005g0010 a0012c0032t0016g0172 a0014c0024t0007g0069 a0017c0025t0001g0167	15	172	0.0872	20	c.124 others(39): Show c.124-29764_124-29745dupAAGAAAGAAAGAAAGAAAGA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	225035571	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0003 a0001c0006t0004g0003	1	172	0.0058	20	c.123 others(37): Show c.123+6680_123+6681insTATATATATATATATATATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 NA18747.hp1 others(1): Show HG00099.hp1 HG01074.hp1 NA18747.hp1 NA19068.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0015 a0001c0001 a0001c0002 a0004c0015	a0001c0001t0001 a0001c0002t0001 a0004c0015t0001 a0001c0001t0001 a0001c0002t0001 a0004c0015t0001	a0001c0001t0001g0016 a0001c0002t0001g0126 a0001c0002t0001g0127 others(1): Show a0001c0001t0001g0016 a0001c0002t0001g0126 a0001c0002t0001g0127 a0004c0015t0001g0015	4	211	0.0190	20	c.102 others(39): Show c.102+19946_102+19947insTATATATATATATATATATA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK1_chr10_126900428_127457516	126960745	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG06807.hp1 HG02602.hp1 HG06807.hp1	a0002 a0004 a0002 a0004	a0002c0023 a0004c0020 a0002c0023 a0004c0020	a0002c0023t0001 a0004c0020t0003 a0002c0023t0001 a0004c0020t0003	a0002c0023t0001g0082 a0004c0020t0003g0023 a0002c0023t0001g0082 a0004c0020t0003g0023	2	136	0.0147	20	c.47- others(35): Show c.47-9956_47-9955insTATATATATATATATATACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126963581	C C	CTCCCTTC others(13): Show CTCCCTTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02698.hp1 HG03017.hp2 HG00741.hp2 HG02698.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0017 a0002c0018 a0001c0006 a0002c0017 a0002c0018	a0001c0006t0001 a0002c0017t0005 a0002c0018t0001 a0001c0006t0001 a0002c0017t0005 a0002c0018t0001	a0001c0006t0001g0102 a0002c0017t0005g0101 a0002c0018t0001g0070 a0001c0006t0001g0102 a0002c0017t0005g0101 a0002c0018t0001g0070	3	136	0.0221	20	c.47- others(35): Show c.47-7080_47-7061dupTCCCTTCCCTTCCCTTCCCT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127093198	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03098.hp2 HG03209.hp1 others(2): Show HG00423.hp2 HG03098.hp2 HG03209.hp1 NA18943.hp2 NA19090.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0022 a0002c0036 a0003c0048 others(2): Show a0002c0022 a0002c0036 a0003c0048 a0005c0066 a0006c0072	a0002c0022t0007 a0002c0036t0001 a0003c0048t0003 others(2): Show a0002c0022t0007 a0002c0036t0001 a0003c0048t0003 a0005c0066t0003 a0006c0072t0002	a0002c0022t0007g0002 a0002c0036t0001g0069 a0003c0048t0003g0063 others(2): Show a0002c0022t0007g0002 a0002c0036t0001g0069 a0003c0048t0003g0063 a0005c0066t0003g0073 a0006c0072t0002g0080	5	136	0.0368	20	c.244 others(41): Show c.2446-13029_2446-13010dupCTTTCTTTCTTTCTTTCTTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127121455	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02280.hp2 others(3): Show HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0052 a0002c0010 a0003c0019 others(1): Show a0001c0052 a0002c0010 a0003c0019 a0003c0021	a0001c0052t0002 a0002c0010t0002 a0003c0019t0003 others(2): Show a0001c0052t0002 a0002c0010t0002 a0003c0019t0003 a0003c0019t0004 a0003c0021t0003	a0001c0052t0002g0035 a0002c0010t0002g0001 a0003c0019t0003g0051 others(3): Show a0001c0052t0002g0035 a0002c0010t0002g0001 a0003c0019t0003g0051 a0003c0019t0004g0119 a0003c0021t0003g0003 a0003c0021t0003g0004	6	136	0.0441	20	c.262 others(39): Show c.2624-4017_2624-3998dupGTGTGTGTGTGTGTGTGTGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	25/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127339733	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01099.hp2 HG01175.hp2 others(5): Show HG00423.hp1 HG01099.hp2 HG01175.hp2 HG02683.hp1 HG02809.hp1 NA18943.hp2 NA18960.hp2 NA18971.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0041 a0002c0010 a0005c0066	a0001c0001t0002 a0001c0002t0008 a0001c0004t0010 others(4): Show a0001c0001t0002 a0001c0002t0008 a0001c0004t0010 a0001c0008t0015 a0001c0041t0002 a0002c0010t0005 a0005c0066t0003	a0001c0001t0002g0077 a0001c0002t0008g0099 a0001c0004t0010g0054 others(5): Show a0001c0001t0002g0077 a0001c0002t0008g0099 a0001c0004t0010g0054 a0001c0008t0015g0039 a0001c0041t0002g0103 a0002c0010t0005g0009 a0002c0010t0005g0083 a0005c0066t0003g0073	8	136	0.0588	20	c.312 others(37): Show c.3123+651_3123+652insTGTGTGTGTGTGTGTGCATG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	30/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127347832	G G	GCCTTCCC others(13): Show GCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01978.hp1 HG02602.hp2 others(1): Show HG01884.hp1 HG01978.hp1 HG02602.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0040 a0001c0060 a0001c0061 others(1): Show a0001c0040 a0001c0060 a0001c0061 a0001c0068	a0001c0040t0001 a0001c0060t0002 a0001c0061t0001 others(1): Show a0001c0040t0001 a0001c0060t0002 a0001c0061t0001 a0001c0068t0005	a0001c0040t0001g0010 a0001c0060t0002g0109 a0001c0061t0001g0096 others(1): Show a0001c0040t0001g0010 a0001c0060t0002g0109 a0001c0061t0001g0096 a0001c0068t0005g0095	4	136	0.0294	20	c.322 others(39): Show c.3224+4119_3224+4138dupTTCCCTTCCCTTCCCTTCCC	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK2_chr5_169632275_170088382	169754920	A A	ATTATTTA others(13): Show ATTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00642.hp1 others(27): Show HG00423.hp1 HG00639.hp2 HG00642.hp1 HG01515.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02083.hp1 HG02258.hp1 HG02615.hp1 HG03209.hp2 HG03453.hp1 HG03491.hp1 HG03540.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18971.hp2 NA18972.hp1 NA19000.hp2 NA19002.hp1 NA19043.hp1 NA19060.hp1 NA19082.hp1 NA19240.hp1 NA20129.hp2	a0001 a0010 a0012 others(2): Show a0001 a0010 a0012 a0013 a0016	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0001c0014 a0001c0018 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0029 a0001c0039 a0001c0052 a0001c0056 a0001c0059 a0001c0068 a0001c0069 a0001c0082 a0010c0085 a0012c0066 a0013c0057 a0016c0078	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0004 a0001c0004t0003 a0001c0007t0003 a0001c0012t0001 a0001c0012t0003 a0001c0014t0001 a0001c0018t0006 a0001c0020t0003 a0001c0021t0001 a0001c0022t0002 a0001c0023t0001 a0001c0029t0001 a0001c0039t0005 a0001c0052t0002 a0001c0056t0002 a0001c0059t0004 a0001c0068t0001 a0001c0069t0001 a0001c0082t0001 a0010c0085t0002 a0012c0066t0003 a0013c0057t0006 a0016c0078t0001	a0001c0001t0001g0005 a0001c0001t0003g0073 a0001c0002t0002g0038 others(27): Show a0001c0001t0001g0005 a0001c0001t0003g0073 a0001c0002t0002g0038 a0001c0002t0003g0014 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0004g0158 a0001c0004t0003g0135 a0001c0004t0003g0165 a0001c0007t0003g0087 a0001c0012t0001g0114 a0001c0012t0003g0170 a0001c0014t0001g0024 a0001c0018t0006g0179 a0001c0020t0003g0009 a0001c0021t0001g0146 a0001c0022t0002g0034 a0001c0023t0001g0166 a0001c0029t0001g0164 a0001c0039t0005g0178 a0001c0052t0002g0027 a0001c0056t0002g0156 a0001c0059t0004g0159 a0001c0068t0001g0151 a0001c0069t0001g0152 a0001c0082t0001g0153 a0010c0085t0002g0132 a0012c0066t0003g0104 a0013c0057t0006g0171 a0016c0078t0001g0074	30	184	0.1630	20	c.237 others(39): Show c.2377-4770_2377-4751dupATTTATTTATTTATTTATTT	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK2_chr5_169632275_170088382	169807833	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0012 a0012	a0012c0066 a0012c0066	a0012c0066t0003 a0012c0066t0003	a0012c0066t0003g0104 a0012c0066t0003g0104	1	184	0.0054	20	c.270 others(39): Show c.2703+4634_2703+4653dupAAAAAAAAAAAAAAAAAAAA	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	26/51		INFO_REALIGN_3_PRIME	chr5	TogoVar

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