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
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0081 a0001c0005t0001g0081	1	12	0.0833	41	c.510 others(60): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0247 a0002c0002t0002g0247	1	81	0.0123	41	c.51 others(52): Show c.5150_*5151insAAAAAAAAAAAATATATATATATATATATATATA TATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0183 a0003c0003t0006g0183	1	81	0.0123	41	c.51 others(52): Show c.5150_*5151insAAAAAAAAAATATATATATATATATATATATATA TATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13479829	G G	GAGAAAAA others(34): Show GAGAAAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGGAAAAGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0063 a0001c0001t0036g0063	1	189	0.0053	41	c.102 others(62): Show c.1023+19219_1023+19220insTCTTTTCCTTTTCTTTTCTTTCTT TCTTTCTTTCTTTTTCT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	747902	G G	GCCTGCGG others(34): Show GCCTGCGGTGGGATGGGGGGGCTCTGCGGTGGGATGGGGGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	32	0.0313	41	c.18+ others(58): Show c.18+10077_18+10078insCCTGCGGTGGGATGGGGGGGCTCTGCGG TGGGATGGGGGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	747943	C C	CCTGCGGT others(34): Show CCTGCGGTGGGATGGGGGGGCTCTGTGGTGGGATGGGGGGCT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	22	0.0455	41	c.18+ others(58): Show c.18+10136_18+10137insGCTCTGTGGTGGGATGGGGGGCTCTGCG GTGGGATGGGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	881666	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	26	0.0385	41	c.19- others(58): Show c.19-26246_19-26245insTATATATATATATATATATATATATATA TATATATATATAT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	912705	C C	CTTCCTCT others(34): Show CTTCCTCTCTGTGGAGCTGACCCCTGCGCTATGGTGCCCACG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	41	c.73+ others(56): Show c.73+4797_73+4837dupTGACCCCTGCGCTATGGTGCCCACGTTCCT CTCTGTGGAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1033838	G G	GCCCCGCG others(34): Show GCCCCGCGTGTCACCGCGAGTGGACTCACACCCTCATCCCGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02922.hp2 HG02976.hp2 others(3): Show HG02698.hp2 HG02922.hp2 HG02976.hp2 HG03516.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0011 others(3): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001 a0002c0004 a0004c0008	a0001c0002t0001 a0001c0003t0013 a0001c0011t0015 others(3): Show a0001c0002t0001 a0001c0003t0013 a0001c0011t0015 a0002c0001t0019 a0002c0004t0018 a0004c0008t0016	a0001c0002t0001g0015 a0001c0003t0013g0007 a0001c0011t0015g0001 others(3): Show a0001c0002t0001g0015 a0001c0003t0013g0007 a0001c0011t0015g0001 a0002c0001t0019g0031 a0002c0004t0018g0010 a0004c0008t0016g0028	6	36	0.1667	41	c.73+ others(60): Show c.73+125894_73+125895insACTCACACCCTCATCCCGACCCCGCG TGTCACCGCGAGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1034100	C C	CGAGTGGA others(34): Show CGAGTGGATTCACACACTCATCCCGACCCCGCGTGTCACCAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	31	0.0323	41	c.73+ others(60): Show c.73+126137_73+126138insTGGATTCACACACTCATCCCGACCCC GCGTGTCACCATGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1034238	G G	GCTCATCC others(34): Show GCTCATCCCGGCCCCGCGTGTCACCGCGAGTGGGTTCACAGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0001 a0001c0011t0015g0001	1	38	0.0263	41	c.73+ others(60): Show c.73+126281_73+126282insGCCCCGCGTGTCACCGCGAGTGGGTT CACAGCCTCATCCCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1034286	C C	CCAACCCC others(34): Show CCAACCCCACGTGTCACCGCGAGTGGACTCACACGCTCATCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0001 a0001c0011t0015g0001	1	40	0.0250	41	c.73+ others(60): Show c.73+126321_73+126322insAACCCCACGTGTCACCGCGAGTGGAC TCACACGCTCATCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1034599	G G	GTTCACAG others(34): Show GTTCACAGCCTCATCCCGACCCCGCGTGTCACCGCGAGTGGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	39	0.0256	41	c.73+ others(60): Show c.73+126634_73+126674dupTTCACAGCCTCATCCCGACCCCGCGT GTCACCGCGAGTGGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1034648	G G	GCTCATCC others(34): Show GCTCATCCCGACCCCGCGTGTCACCACGAGTGGGTTCACAGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	38	0.0263	41	c.73+ others(60): Show c.73+126706_73+126707insACGAGTGGGTTCACAGCCTCATCCCG ACCCCGCGTGTCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1034853	C C	CCTCATCC others(34): Show CCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACACG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	38	0.0263	41	c.73+ others(60): Show c.73+126901_73+126902insGCGTGTCACCGCGAGTGGGTTCACAC GCTCATCCCGACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1034935	C C	CCTCATCC others(34): Show CCTCATCCCGACCCCACGTGTCACCGCGAGTGGACTCACATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	38	0.0263	41	c.73+ others(60): Show c.73+126983_73+126984insACGTGTCACCGCGAGTGGACTCACAT GCTCATCCCGACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1188326	C C	CCCTCACG others(34): Show CCCTCACGGAATCTCACACGCCCGGGACTTCCGTGACGTTTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	38	0.0263	41	c.74- others(58): Show c.74-70507_74-70506insGCCCGGGACTTCCGTGACGTTTGCCTCA CGGAATCTCACAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1385512	T T	TCCCCTGA others(34): Show TCCCCTGAGAACTTGGTGCACAGTTACCCGGCCTGTGCCCGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18906.hp1 HG02647.hp2 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0008 a0002c0001 a0004c0008	a0002c0001t0002 a0004c0008t0016 a0002c0001t0002 a0004c0008t0016	a0002c0001t0002g0013 a0004c0008t0016g0028 a0002c0001t0002g0013 a0004c0008t0016g0028	2	37	0.0541	41	c.107 others(62): Show c.107-115833_107-115832insGTTACCCGGCCTGTGCCCGGCCCC TGAGAACTTGGTGCACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1437046	A A	AGGGTGAC others(34): Show AGGGTGACGCCATCCGGGTCTGCGTTCAGCCCAGGCGCGTAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0002 a0002c0001t0011g0002	1	40	0.0250	41	c.107 others(60): Show c.107-64299_107-64259dupGCGTTCAGCCCAGGCGCGTAGGGGTG ACGCCATCCGGGTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	31284606	T T	TTCTTCTT others(34): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0061 a0003c0061	a0003c0061t0001 a0003c0061t0001	a0003c0061t0001g0072 a0003c0061t0001g0072	1	126	0.0079	41	c.922 others(62): Show c.9225-23591_9225-23590insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0028 a0003c0003t0001g0028	1	28	0.0357	41	c.592 others(60): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0033 a0033	a0033c0049 a0033c0049	a0033c0049t0001 a0033c0049t0001	a0033c0049t0001g0119 a0033c0049t0001g0119	1	2	0.5000	41	c.160 others(62): Show c.1602+10057_1602+10058insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32863509	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0088 a0002c0005t0001g0088	1	70	0.0143	41	c.94- others(58): Show c.94-13690_94-13689insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAH11_chr7_21538039_21906839	21774881	T T	TAGAAATA others(34): Show TAGAAATACTGGTGGCCTTCTCAGAGTCATGTCATCAGGTCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0109 a0109	a0109c0126 a0109c0126	a0109c0126t0002 a0109c0126t0002	a0109c0126t0002g0042 a0109c0126t0002g0042	1	296	0.0034	41	c.933 others(58): Show c.9336+883_9336+923dupAGAAATACTGGTGGCCTTCTCAGAGTCA TGTCATCAGGTCA	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	56/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789802	T T	TTTTTTCT others(34): Show TTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0111 a0111	a0111c0241 a0111c0241	a0111c0241t0001 a0111c0241t0001	a0111c0241t0001g0194 a0111c0241t0001g0194	1	296	0.0034	41	c.100 others(60): Show c.10026+462_10026+463insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCTTTCTTTCTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0008 a0049 a0008 a0049	a0008c0016 a0049c0037 a0008c0016 a0049c0037	a0008c0016t0001 a0049c0037t0002 a0008c0016t0001 a0049c0037t0002	a0008c0016t0001g0041 a0049c0037t0002g0114 a0008c0016t0001g0041 a0049c0037t0002g0114	2	60	0.0333	41	c.133 others(60): Show c.1335+1673_1335+1674insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03492.hp1 HG01175.hp1 HG03492.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0040 a0004c0004t0001g0261 a0004c0004t0001g0040 a0004c0004t0001g0261	2	60	0.0333	41	c.133 others(60): Show c.1335+1673_1335+1674insATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0297 a0002c0007t0003g0297	1	276	0.0036	41	c.229 others(58): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT ATTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0212 a0003c0004t0001g0212	1	276	0.0036	41	c.229 others(58): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT TTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0047 a0047	a0047c0125 a0047c0125	a0047c0125t0003 a0047c0125t0003	a0047c0125t0003g0294 a0047c0125t0003g0294	1	276	0.0036	41	c.229 others(58): Show c.229-1681_229-1680insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19057.hp1 HG01978.hp1 NA19057.hp1	a0003 a0039 a0003 a0039	a0003c0004 a0039c0100 a0003c0004 a0039c0100	a0003c0004t0001 a0039c0100t0001 a0003c0004t0001 a0039c0100t0001	a0003c0004t0001g0209 a0039c0100t0001g0223 a0003c0004t0001g0209 a0039c0100t0001g0223	2	277	0.0072	41	c.229 others(58): Show c.229-1681_229-1680insATATATATATATATATATATATATTTTT TTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGA others(34): Show GGGGGGGAGGGAGGGAGAGGGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	170	0.0059	41	c.324 others(58): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCCCTCTC CCTCCCTCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGA others(34): Show GGGGGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0228 a0002c0004t0001g0228	1	170	0.0059	41	c.324 others(58): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCCCTC CCTCCCTCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGA others(34): Show GGGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0079 a0005c0079	a0005c0079t0001 a0005c0079t0001	a0005c0079t0001g0118 a0005c0079t0001g0118	1	170	0.0059	41	c.324 others(58): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCCCTCCCTC CCTCCCTCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH9_chr17_11593470_11974748	11848451	A A	ATATAGGT others(34): Show ATATAGGTTATCTCAAATACTGATGATTGGGATTGAAATTTC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0003 a0001c0053t0003	a0001c0053t0003g0021 a0001c0053t0003g0021	1	176	0.0057	41	c.950 others(60): Show c.9508-5550_9508-5510dupATAGGTTATCTCAAATACTGATGATT GGGATTGAAATTTCT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18994.hp2 NA18968.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0104 a0001c0001t0001g0033 a0001c0001t0001g0104	2	48	0.0417	41	c.124 others(60): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(34): Show GATATATATATGATATATATATATGGGATATATATATCATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	55	0.0182	41	c.22- others(58): Show c.22-13175_22-13174insATATGATATATATATCCCATATATATAT ATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02300.hp2 HG03130.hp1 others(2): Show HG02040.hp1 HG02300.hp2 HG03130.hp1 HG03471.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	237	0.0211	41	c.29 others(52): Show c.2942_*2943insAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAG ACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	233	0.0043	41	c.29 others(52): Show c.2942_*2943insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAG ACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02145.hp1 HG01978.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0050 a0001c0002t0003g0003 a0001c0002t0002g0050 a0001c0002t0003g0003	2	158	0.0127	41	c.59 others(52): Show c.5994_*5995insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNLZ_chr9_136354483_136368744	136355276	G G	GGGTGACA others(34): Show GGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0074 a0001c0001t0030g0074	1	416	0.0024	41	c.66 others(52): Show c.6695_*6735dupACCCTCGGCACCCGGCTACCCCTCCCCCAGGACG TGTCACC	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding		4206		chr9	TogoVar
DNLZ_chr9_136354483_136368744	136355294	G G	GAGGGGTA others(34): Show GAGGGGTAGCCGGGTGCCGAGGGTGGTGACACGTCCTGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0068 a0001c0001t0032g0068	1	416	0.0024	41	c.67 others(52): Show c.6717_*6718insACCCCAGGACGTGTCACCACCCTCGGCACCCGGC TACCCCT	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding		4188		chr9	TogoVar
DNLZ_chr9_136354483_136368744	136355378	G G	GAGGGGTA others(34): Show GAGGGGTAGCCGGGTGCCGAGGGTGGTGACACGTCCTGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02572.hp1 HG02922.hp1 others(3): Show HG01261.hp2 HG02572.hp1 HG02922.hp1 HG02965.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0052 a0001c0001t0001 a0001c0001t0052	a0001c0001t0001g0001 a0001c0001t0052g0085 a0001c0001t0001g0001 a0001c0001t0052g0085	6	171	0.0351	41	c.66 others(52): Show c.6633_*6634insACCCCAGGACGTGTCACCACCCTCGGCACCCGGC TACCCCT	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding		4104		chr9	TogoVar
DNLZ_chr9_136354483_136368744	136355402	G G	GGGTGACA others(34): Show GGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0074 a0001c0001t0030g0074	1	409	0.0024	41	c.65 others(52): Show c.6569_*6609dupACCCTCGGCACCCGGCTACCCCTCCCCCAGGACG TGTCACC	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding		4080		chr9	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03654.hp1 HG03654.hp2 HG00735.hp2 HG03654.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0006 a0001c0004t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0004	a0001c0001t0005g0002 a0001c0001t0006g0006 a0001c0004t0004g0013 a0001c0001t0005g0002 a0001c0001t0006g0006 a0001c0004t0004g0013	3	44	0.0682	41	c.244 others(58): Show c.244-4329_244-4328insATATATATATATATATATATATATATAT ATATTTTTTTTTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK1_chr10_126900428_127457516	127093214	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0004 a0004c0013t0004	a0004c0013t0004g0125 a0004c0013t0004g0125	1	131	0.0076	41	c.244 others(62): Show c.2446-13010_2446-13009insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTCTTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51015879	T T	TATGATAT others(34): Show TATGATATATATATCATATATTTCATATATATGATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0153 a0001c0006t0001g0153	1	129	0.0078	41	c.316 others(60): Show c.316-48569_316-48568insATGATATATATATCATATATTTCATA TATATGATATATATA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK4_chr7_111721110_112211399	111762762	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	10	0.1000	41	c.402 others(60): Show c.4020+2355_4020+2356insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	39/52			chr7	TogoVar
DOK7_chr4_3458306_3499482	3486029	A A	AGCTCGGT others(34): Show AGCTCGGTGGCCCGGGGGCAGCTGGTCTGACTCTGCAGCTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	402	0.0025	41	c.652 others(56): Show c.652+373_652+413dupCTCGGTGGCCCGGGGGCAGCTGGTCTGACT CTGCAGCTGGG	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18966.hp2 NA18944.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0109 a0001c0001t0001g0043 a0001c0001t0001g0109	2	56	0.0357	41	c.312 others(60): Show c.312+41706_312+41707insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar

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