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
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18945.hp1 NA18955.hp1 others(1): Show HG03710.hp1 NA18945.hp1 NA18955.hp1 NA19005.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0012 a0006c0006 a0001c0001 a0004c0012 a0006c0006	a0001c0001t0001 a0004c0012t0001 a0006c0006t0001 a0001c0001t0001 a0004c0012t0001 a0006c0006t0001	a0001c0001t0001g0033 a0001c0001t0001g0069 a0004c0012t0001g0064 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0069 a0004c0012t0001g0064 a0006c0006t0001g0044	4	31	0.1290	30	c.592 others(49): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32435275	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0032 a0032	a0032c0045 a0032c0045	a0032c0045t0001 a0032c0045t0001	a0032c0045t0001g0078 a0032c0045t0001g0078	1	43	0.0233	30	c.407 others(49): Show c.4071+2965_4071+2966insATATATATATATATATATATATATAT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32452328	T T	TGAAAGGG others(23): Show TGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0001 a0023c0031t0001	a0023c0031t0001g0086 a0023c0031t0001g0086	1	84	0.0119	30	c.360 others(49): Show c.3603+2333_3603+2334insCCTTTCCCTTTCCCTTTCCCTTTCCC TTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0007 a0002c0009t0007	a0002c0009t0007g0018 a0002c0009t0007g0018	1	56	0.0179	30	c.280 others(49): Show c.2803+1754_2803+1755insGTGTATATATATATATATATATATAT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18984.hp1 HG01928.hp1 NA18984.hp1	a0001 a0032 a0001 a0032	a0001c0021 a0032c0045 a0001c0021 a0032c0045	a0001c0021t0001 a0032c0045t0001 a0001c0021t0001 a0032c0045t0001	a0001c0021t0001g0032 a0032c0045t0001g0078 a0001c0021t0001g0032 a0032c0045t0001g0078	2	57	0.0351	30	c.280 others(49): Show c.2803+1754_2803+1755insGTATATATATATATATATATATATAT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	2	0.5000	30	c.160 others(51): Show c.1602+10028_1602+10057dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32815520	T T	TATATATA others(23): Show TATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0018 a0003c0008t0018	a0003c0008t0018g0001 a0003c0008t0018g0001	1	61	0.0164	30	c.530 others(45): Show c.530+947_530+948insGTGTGTGTGTGTGTATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	6/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32879014	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18952.hp1 HG02976.hp2 NA18952.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0056 a0001c0002 a0005c0056	a0001c0002t0001 a0005c0056t0001 a0001c0002t0001 a0005c0056t0001	a0001c0002t0001g0047 a0005c0056t0001g0103 a0001c0002t0001g0047 a0005c0056t0001g0103	2	120	0.0167	30	c.94- others(47): Show c.94-29195_94-29194insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32879014	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAACAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	119	0.0084	30	c.94- others(47): Show c.94-29195_94-29194insGTTTTTTTTTTTTTTTGTTTTTTTTTTT TT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32969027	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0019 a0019	a0019c0032 a0019c0032	a0019c0032t0001 a0019c0032t0001	a0019c0032t0001g0009 a0019c0032t0001g0009	1	34	0.0294	30	c.93+ others(47): Show c.93+51111_93+51112insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0025 a0025	a0025c0026 a0025c0026	a0025c0026t0001 a0025c0026t0001	a0025c0026t0001g0126 a0025c0026t0001g0126	1	14	0.0714	30	c.32- others(47): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMRT1_chr9_836697_974090	840722	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 NA18950.hp2 HG01257.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0045 a0002c0002t0006g0037 a0002c0002t0003g0045 a0002c0002t0006g0037	2	79	0.0253	30	c.-11 others(41): Show c.-1117_-1116insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding		974		chr9	TogoVar
DMRT1_chr9_836697_974090	842230	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	97	0.0103	30	c.354 others(43): Show c.354+61_354+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRTB1_chr1_53454399_53472488	53458073	C C	CAGAGAGA others(23): Show CAGAGAGACAGAGAGACAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	152	0.0066	30	c.-13 others(41): Show c.-1381_-1380insAGAGAGACAGAGAGACAGAGAGAGAGAGAG	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding		1325		chr1	TogoVar
DMRTC1B_chrX_72771890_72853803	72776950	T T	TTCCTCCT others(23): Show TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0014	1	11	0.0909	30	c.-37 others(39): Show c.-370_-341dupCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/7	68133	INFO_REALIGN_3_PRIME	chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72880587	G G	GTTTGCTT others(23): Show GTTTGCTTTGCTTTGCTTTGCTTTGCTTTGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	2	0.5000	30	c.-94 others(47): Show c.-94-4829_-94-4800dupGCAAAGCAAAGCAAAGCAAAGCAAAGCA AA	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/6			chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72943787	G G	GAGGAGGA others(23): Show GAGGAGGAGGAGGAGCAGGAGGAGGAGGAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	54	0.0185	30	c.-30 others(39): Show c.-308_-307insGCTCCTCCTCCTCCTGCTCCTCCTCCTCCT	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/7	68094		chrX	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAAATA others(23): Show AATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	143	0.0070	30	c.836 others(45): Show c.836-900_836-899insAATATATATATATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMXL1_chr5_119066087_119254127	119123321	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02886.hp1 HG00673.hp1 HG02886.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0013 a0001c0002 a0009c0013	a0001c0002t0004 a0009c0013t0001 a0001c0002t0004 a0009c0013t0001	a0001c0002t0004g0215 a0009c0013t0001g0041 a0001c0002t0004g0215 a0009c0013t0001g0041	2	110	0.0182	30	c.110 others(49): Show c.1102+2212_1102+2241dupAGGGAGAGGGAGAGGAGGGAGAGGGA GAGG	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119123399	G G	GGGAGGGA others(23): Show GGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19030.hp1 HG02683.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0016 a0001c0001t0001 a0001c0012t0016	a0001c0001t0001g0223 a0001c0012t0016g0217 a0001c0001t0001g0223 a0001c0012t0016g0217	2	143	0.0140	30	c.110 others(49): Show c.1102+2287_1102+2316dupGAGAGGAGGGAGAGGGAGAGGAGGGA GAGG	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173774	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20129.hp1 HG01891.hp2 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0009c0013t0001 a0001c0001t0001 a0009c0013t0001	a0001c0001t0001g0142 a0009c0013t0001g0043 a0001c0001t0001g0142 a0009c0013t0001g0043	2	212	0.0094	30	c.668 others(49): Show c.6682-1486_6682-1485insATATATATATATATATATATATATAT ATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01261.hp1 others(4): Show HG00544.hp2 HG00609.hp2 HG01261.hp1 HG01993.hp1 HG03491.hp2 NA18950.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0002c0003t0006 a0001c0002t0001 a0002c0003t0001 a0002c0003t0006	a0001c0002t0001g0098 a0001c0002t0001g0105 a0001c0002t0001g0116 others(4): Show a0001c0002t0001g0098 a0001c0002t0001g0105 a0001c0002t0001g0116 a0002c0003t0001g0062 a0002c0003t0001g0068 a0002c0003t0001g0087 a0002c0003t0006g0077	7	69	0.1014	30	c.668 others(49): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA TATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATGTAT others(23): Show GTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	63	0.0159	30	c.668 others(49): Show c.6682-1482_6682-1481insGTATATATATATATATATATATATAT ATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG04199.hp1 HG03139.hp1 HG03486.hp2 HG04199.hp1	a0001 a0005 a0021 a0001 a0005 a0021	a0001c0002 a0005c0015 a0021c0045 a0001c0002 a0005c0015 a0021c0045	a0001c0002t0001 a0005c0015t0005 a0021c0045t0010 a0001c0002t0001 a0005c0015t0005 a0021c0045t0010	a0001c0002t0001g0131 a0005c0015t0005g0039 a0021c0045t0010g0118 a0001c0002t0001g0131 a0005c0015t0005g0039 a0021c0045t0010g0118	3	65	0.0462	30	c.668 others(49): Show c.6682-1484_6682-1483insGTATATATATATATATATATATATAT ATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18975.hp2 NA18977.hp1 others(1): Show HG02922.hp2 NA18975.hp2 NA18977.hp1 NA19006.hp2	a0004 a0011 a0004 a0011	a0004c0005 a0011c0034 a0004c0005 a0011c0034	a0004c0005t0001 a0011c0034t0007 a0004c0005t0001 a0011c0034t0007	a0004c0005t0001g0316 a0004c0005t0001g0318 a0004c0005t0001g0322 others(1): Show a0004c0005t0001g0316 a0004c0005t0001g0318 a0004c0005t0001g0322 a0011c0034t0007g0205	4	191	0.0209	30	c.299 others(47): Show c.2992+470_2992+499dupCACACACACACACACACACACACACACA CA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43			chr15	TogoVar
DNAAF11_chr8_132565416_132680545	132674147	A A	AGAGAAGG others(23): Show AGAGAAGGAGGAGAAGGAGGAGGAGGAGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01069.hp2 others(8): Show HG00099.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01516.hp2 HG01517.hp1 HG02602.hp1 HG02896.hp1 HG03669.hp2 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0015 others(8): Show a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0036 a0003c0003t0002g0055 a0003c0003t0002g0056	11	251	0.0438	30	c.10+ others(45): Show c.10+1336_10+1337insCTTCTCCTCCTCCTCCTTCTCCTCCTTCTC	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	1/11			chr8	TogoVar
DNAAF11_chr8_132565416_132680545	132674151	G G	GAGGAGGA others(23): Show GAGGAGGAGGAGGAGGAAGAGAAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0031 a0002c0004t0010g0031	1	248	0.0040	30	c.10+ others(45): Show c.10+1332_10+1333insTCTCCTCCTTCTCTTCCTCCTCCTCCTCCT	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	1/11			chr8	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp2 NA19240.hp1 HG03209.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0162 a0001c0001t0002g0015 a0001c0001t0002g0162	3	80	0.0375	30	c.125 others(45): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0132 a0002c0003t0001g0132	1	149	0.0067	30	c.-18 others(41): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTCTATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0131 a0002c0003t0001g0131	1	149	0.0067	30	c.-18 others(41): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATATATATATATATATAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0130 a0001c0004t0001g0130	1	149	0.0067	30	c.-18 others(41): Show c.-1889_-1888insCTCTCTATATATATATATATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATATATATATATATATGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02897.hp2 HG02451.hp1 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0093 a0002c0003t0001g0044 a0002c0003t0001g0093	2	150	0.0133	30	c.-18 others(41): Show c.-1889_-1888insCTCTCCATATATATATATATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170850	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00733.hp2 others(2): Show HG00408.hp2 HG00642.hp2 HG00733.hp2 HG01358.hp1 HG01975.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0072 a0003c0002t0001g0002 a0003c0002t0001g0072	5	286	0.0175	30	c.-43 others(41): Show c.-4333_-4332insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4238		chr19	TogoVar
DNAH10_chr12_123757301_123940714	123782329	G G	GCCTCCCC others(23): Show GCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 NA18522.hp2 others(1): Show HG01243.hp1 HG02572.hp1 NA18522.hp2 NA19030.hp2	a0027 a0032 a0044 a0027 a0032 a0044	a0027c0022 a0032c0071 a0044c0086 a0027c0022 a0032c0071 a0044c0086	a0027c0022t0001 a0032c0071t0001 a0044c0086t0002 a0027c0022t0001 a0032c0071t0001 a0044c0086t0002	a0027c0022t0001g0120 a0027c0022t0001g0121 a0032c0071t0001g0129 others(1): Show a0027c0022t0001g0120 a0027c0022t0001g0121 a0032c0071t0001g0129 a0044c0086t0002g0156	4	34	0.1176	30	c.842 others(45): Show c.842-750_842-749insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	6/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911285	A A	ATCTGTCC others(23): Show ATCTGTCCTGGGGGGTCTGTCCTGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01168.hp1 others(24): Show HG00544.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02630.hp2 HG02717.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18960.hp1 NA18964.hp1 NA18977.hp2 NA18979.hp2 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0028 a0036 a0049 a0063 a0065	a0001c0001 a0001c0002 a0001c0041 others(13): Show a0001c0001 a0001c0002 a0001c0041 a0001c0058 a0001c0067 a0002c0011 a0002c0029 a0003c0019 a0004c0050 a0006c0026 a0006c0027 a0028c0069 a0036c0055 a0049c0039 a0063c0056 a0065c0034	a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 others(13): Show a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 a0001c0058t0001 a0001c0067t0001 a0002c0011t0001 a0002c0029t0001 a0003c0019t0002 a0004c0050t0001 a0006c0026t0002 a0006c0027t0001 a0028c0069t0001 a0036c0055t0002 a0049c0039t0001 a0063c0056t0001 a0065c0034t0001	a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0064 others(24): Show a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0002t0002g0072 a0001c0002t0002g0096 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0161 a0001c0041t0001g0159 a0001c0058t0001g0033 a0001c0067t0001g0082 a0002c0011t0001g0086 a0002c0029t0001g0131 a0002c0029t0001g0142 a0003c0019t0002g0093 a0004c0050t0001g0136 a0006c0026t0002g0079 a0006c0026t0002g0081 a0006c0027t0001g0115 a0028c0069t0001g0057 a0036c0055t0002g0069 a0049c0039t0001g0018 a0063c0056t0001g0073 a0065c0034t0001g0056	27	167	0.1617	30	c.101 others(49): Show c.10134+669_10134+698dupGGGGGTCTGTCCTGGGGGGTCTGTCC TGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911291	C C	CCTGGGGG others(23): Show CCTGGGGGGTCTGTCCTGGGGGGGGTCTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	168	0.0060	30	c.101 others(49): Show c.10134+648_10134+649insACTGGGGGGTCTGTCCTGGGGGGGGT CTGT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911872	G G	GGGGGTCT others(23): Show GGGGGTCTGTCCTGGGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0003 a0002c0011t0001g0003	1	168	0.0060	30	c.101 others(51): Show c.10134+1204_10134+1205insTCTGTCCTGGGGGGGGGGTCTGTC CTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912277	C C	CCTGGGGG others(23): Show CCTGGGGGGGGTCTGTCCTGGGGGGGTCTGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	168	0.0060	30	c.101 others(49): Show c.10135-820_10135-819insTGGGGGGGGTCTGTCCTGGGGGGGTC TGTC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789798	T T	TTTTTTCT others(23): Show TTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0123 a0123	a0123c0246 a0123c0246	a0123c0246t0001 a0123c0246t0001	a0123c0246t0001g0232 a0123c0246t0001g0232	1	295	0.0034	30	c.100 others(49): Show c.10026+458_10026+459insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(23): Show ATATATATATATATATGTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	99	0.0101	30	c.111 others(49): Show c.11190-629_11190-628insAAAAAAAAAAAATACATATATATATA TATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(23): Show ATATATATGTATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG01109.hp1 HG02451.hp1	a0013 a0020 a0013 a0020	a0013c0010 a0020c0020 a0013c0010 a0020c0020	a0013c0010t0002 a0020c0020t0004 a0013c0010t0002 a0020c0020t0004	a0013c0010t0002g0259 a0020c0020t0004g0219 a0013c0010t0002g0259 a0020c0020t0004g0219	2	100	0.0200	30	c.111 others(49): Show c.11190-629_11190-628insAAAAAAAAAAAAAAAAAAAATACATA TATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57333329	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02886.hp1 HG02258.hp2 HG02622.hp1 HG02886.hp1	a0008 a0017 a0008 a0017	a0008c0008 a0017c0009 a0008c0008 a0017c0009	a0008c0008t0002 a0017c0009t0001 a0008c0008t0002 a0017c0009t0001	a0008c0008t0002g0046 a0008c0008t0002g0078 a0017c0009t0001g0111 a0008c0008t0002g0046 a0008c0008t0002g0078 a0017c0009t0001g0111	3	149	0.0201	30	c.997 others(49): Show c.9978+1135_9978+1136insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	62/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACACTAT others(23): Show CACACTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0011 a0011	a0011c0061 a0011c0061	a0011c0061t0002 a0011c0061t0002	a0011c0061t0002g0252 a0011c0061t0002g0252	1	143	0.0070	30	c.936 others(49): Show c.9360+2149_9360+2150insTATATATATATATATATATATATATA GTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACTATAT others(23): Show CACTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02622.hp1 HG02622.hp2 HG02818.hp1	a0008 a0016 a0047 a0008 a0016 a0047	a0008c0008 a0016c0018 a0047c0045 a0008c0008 a0016c0018 a0047c0045	a0008c0008t0002 a0016c0018t0001 a0047c0045t0002 a0008c0008t0002 a0016c0018t0001 a0047c0045t0002	a0008c0008t0002g0046 a0016c0018t0001g0058 a0047c0045t0002g0012 a0008c0008t0002g0046 a0016c0018t0001g0058 a0047c0045t0002g0012	3	145	0.0207	30	c.936 others(49): Show c.9360+2149_9360+2150insTATATATATATATATATATATATATA TAGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 NA18947.hp1 others(1): Show HG00280.hp2 HG01106.hp2 NA18947.hp1 NA18981.hp2	a0007 a0027 a0028 a0007 a0027 a0028	a0007c0007 a0027c0021 a0028c0090 a0007c0007 a0027c0021 a0028c0090	a0007c0007t0001 a0027c0021t0001 a0028c0090t0001 a0007c0007t0001 a0027c0021t0001 a0028c0090t0001	a0007c0007t0001g0167 a0027c0021t0001g0092 a0027c0021t0001g0098 others(1): Show a0007c0007t0001g0167 a0027c0021t0001g0092 a0027c0021t0001g0098 a0028c0090t0001g0230	4	137	0.0292	30	c.730 others(49): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0067 a0004c0004t0001g0067	1	134	0.0075	30	c.730 others(49): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA CACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0038 a0004c0004t0001g0038	1	134	0.0075	30	c.730 others(49): Show c.7305+2049_7305+2050insTATATATATATATATATATATATACA CACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0064 a0064	a0064c0080 a0064c0080	a0064c0080t0001 a0064c0080t0001	a0064c0080t0001g0164 a0064c0080t0001g0164	1	134	0.0075	30	c.730 others(49): Show c.7305+2049_7305+2050insTATATATATATATACACACACACACA CACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389839	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04228.hp1 HG01109.hp2 HG04228.hp1	a0032 a0057 a0032 a0057	a0032c0029 a0057c0042 a0032c0029 a0057c0042	a0032c0029t0001 a0057c0042t0001 a0032c0029t0001 a0057c0042t0001	a0032c0029t0001g0146 a0057c0042t0001g0059 a0032c0029t0001g0146 a0057c0042t0001g0059	2	156	0.0128	30	c.730 others(49): Show c.7305+2032_7305+2033insTTATATATATATATATATATATATAT ATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01891.hp1 HG01515.hp2 HG01891.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0025 a0001c0001 a0012c0025	a0001c0001t0001 a0012c0025t0003 a0001c0001t0001 a0012c0025t0003	a0001c0001t0001g0212 a0012c0025t0003g0004 a0001c0001t0001g0212 a0012c0025t0003g0004	2	83	0.0241	30	c.730 others(49): Show c.7305+1447_7305+1448insATATATATATATATATATTTTTTTTT TTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar

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