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	31522363	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0081 a0004c0004t0001g0081	1	31	0.0323	26	c.821 others(47): Show c.8218-14911_8218-14910insTATATATATATATAGAGAGAGAGA GA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0032 a0001c0021t0001g0032	1	31	0.0323	26	c.821 others(47): Show c.8218-14911_8218-14910insTATATATATATAGAGAGAGAGAGA GA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0038 a0004c0004t0001g0038	1	31	0.0323	26	c.821 others(47): Show c.8218-14911_8218-14910insTATATATATAGAGAGAGAGAGAGA GA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19062.hp1 NA19070.hp1 HG00621.hp1 NA19062.hp1 NA19070.hp1	a0001 a0004 a0035 a0001 a0004 a0035	a0001c0001 a0004c0004 a0035c0027 a0001c0001 a0004c0004 a0035c0027	a0001c0001t0001 a0004c0004t0002 a0035c0027t0001 a0001c0001t0001 a0004c0004t0002 a0035c0027t0001	a0001c0001t0001g0059 a0004c0004t0002g0083 a0035c0027t0001g0023 a0001c0001t0001g0059 a0004c0004t0002g0083 a0035c0027t0001g0023	3	30	0.1000	26	c.720 others(45): Show c.7201-2596_7201-2571dupACACACACACACACACACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31845033	T T	TATATATA others(19): Show TATATATATATATGTATATGTGTATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0117 a0008c0011t0005g0117	1	126	0.0079	26	c.709 others(45): Show c.7099-8215_7099-8214insGTATACACATATACATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32123202	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0027 a0003c0003t0002g0027	1	23	0.0435	26	c.643 others(47): Show c.6438+93688_6438+93713dupATATATATATATATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32252735	T T	TATATATA others(19): Show TATATATAAATATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0018 a0003c0008t0018	a0003c0008t0018g0001 a0003c0008t0018g0001	1	126	0.0079	26	c.629 others(47): Show c.6290+34793_6290+34794insTTATATATTTATATATATTTATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02486.hp1 HG02735.hp1 HG02083.hp1 HG02486.hp1 HG02735.hp1	a0003 a0006 a0011 a0003 a0006 a0011	a0003c0003 a0006c0006 a0011c0038 a0003c0003 a0006c0006 a0011c0038	a0003c0003t0001 a0006c0006t0003 a0011c0038t0001 a0003c0003t0001 a0006c0006t0003 a0011c0038t0001	a0003c0003t0001g0046 a0006c0006t0003g0026 a0011c0038t0001g0045 a0003c0003t0001g0046 a0006c0006t0003g0026 a0011c0038t0001g0045	3	30	0.1000	26	c.592 others(45): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32332413	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0012 a0002c0020t0012	a0002c0020t0012g0121 a0002c0020t0012g0121	1	12	0.0833	26	c.592 others(45): Show c.5922+9661_5922+9686dupACACACACACACACACACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32435272	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0017 a0002c0005t0001g0017	1	126	0.0079	26	c.407 others(45): Show c.4071+2968_4071+2969insTATATATATATATATATATATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32435275	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG03490.hp1 others(2): Show HG00621.hp1 HG00673.hp1 HG03490.hp1 NA18982.hp1 NA19058.hp1	a0001 a0006 a0017 others(1): Show a0001 a0006 a0017 a0031	a0001c0001 a0006c0006 a0017c0036 others(1): Show a0001c0001 a0006c0006 a0017c0036 a0031c0037	a0001c0001t0001 a0006c0006t0001 a0017c0036t0001 others(1): Show a0001c0001t0001 a0006c0006t0001 a0017c0036t0001 a0031c0037t0004	a0001c0001t0001g0020 a0001c0001t0001g0059 a0006c0006t0001g0013 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0059 a0006c0006t0001g0013 a0017c0036t0001g0049 a0031c0037t0004g0067	5	47	0.1064	26	c.407 others(45): Show c.4071+2965_4071+2966insATATATATATATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp1 HG03942.hp1 others(2): Show HG02976.hp2 HG03486.hp1 HG03942.hp1 HG04228.hp1 NA18945.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0052 a0005c0056 a0001c0001 a0005c0052 a0005c0056	a0001c0001t0001 a0001c0001t0003 a0005c0052t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0005c0052t0006 a0005c0056t0001	a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0003g0016 others(2): Show a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0003g0016 a0005c0052t0006g0099 a0005c0056t0001g0103	5	60	0.0833	26	c.280 others(45): Show c.2803+1754_2803+1755insGTATATATATATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(19): Show TGGGGGGGGGGGGGGGGGGGGGTTGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0116 a0003c0008t0003g0116	1	4	0.2500	26	c.649 others(45): Show c.649+32215_649+32216insCCCAACCCCCCCCCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32815520	T T	TATATATA others(19): Show TATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0087 a0003c0003t0017g0087	1	61	0.0164	26	c.530 others(41): Show c.530+947_530+948insGTGTGTGTGTGTGTGTATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	6/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009974	G G	GTGTATAC others(19): Show GTGTATACACATGTGTGTATGTGTGTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG00642.hp1 HG01109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0080 a0004c0004t0001g0081	2	105	0.0190	26	c.93+ others(43): Show c.93+10164_93+10165insTACACACATACACACATGTGTATACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMPK_chr19_45764717_45787490	45770204	C C	CAGCAGCA others(19): Show CAGCAGCAGCAGCAGCAGCAGCAGCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	6	0.1667	26	c.28 others(35): Show c.283_*284insCTGCTGCTGCTGCTGCTGCTGCTGCT	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15	283		chr19	TogoVar
DMRT1_chr9_836697_974090	840722	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0035 a0002c0002t0006g0035	1	78	0.0128	26	c.-11 others(37): Show c.-1117_-1116insGTGTGTGTGTGTGTGTGTGTGTGTGT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding		974		chr9	TogoVar
DMRTA2_chr1_50412550_50428443	50426004	T T	TGTTATGG others(19): Show TGTTATGGAGGGAGGCAAAATAAACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	308	0.0032	26	c.-28 others(37): Show c.-2898_-2897insGGGTTTATTTTGCCTCCCTCCATAAC	DMRTA2	ENSG00000142700.12	transcript	ENST00000404795.4	protein_coding		2562		chr1	TogoVar
DMRTB1_chr1_53454399_53472488	53458073	C C	CAGAGAGA others(19): Show CAGAGAGACAGAGAGACAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	152	0.0066	26	c.-13 others(37): Show c.-1381_-1380insAGAGAGACAGAGAGACAGAGAGAGAG	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding		1325		chr1	TogoVar
DMRTB1_chr1_53454399_53472488	53458073	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03195.hp2 HG02922.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	2	153	0.0131	26	c.-13 others(37): Show c.-1381_-1380insAGAGAGAGAGAGAGAGAGAGAGAGAG	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding		1325		chr1	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAAATA others(19): Show AATAAATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	143	0.0070	26	c.836 others(41): Show c.836-900_836-899insAATAAATATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAAATA others(19): Show AATAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03195.hp1 HG03942.hp2 HG02886.hp1 HG03195.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0222 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0222	3	145	0.0207	26	c.836 others(41): Show c.836-900_836-899insAATATATATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMXL1_chr5_119066087_119254127	119089999	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	7	0.1429	26	c.88- others(41): Show c.88-7967_88-7942dupTTTTTTTTTTTTTTTTTTTTTTTTTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173774	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0213 a0012c0018t0001g0213	1	211	0.0047	26	c.668 others(45): Show c.6682-1486_6682-1485insATATATATATATATATATATATATAT	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(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01074.hp1 HG01978.hp2 others(12): Show HG00609.hp1 HG01074.hp1 HG01978.hp2 HG01993.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02698.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 NA18950.hp2 NA19004.hp1 NA19030.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0002 a0001c0020 others(3): Show a0001c0001 a0001c0002 a0001c0020 a0001c0030 a0002c0003 a0016c0039	a0001c0001t0001 a0001c0002t0001 a0001c0020t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0020t0001 a0001c0020t0020 a0001c0030t0001 a0002c0003t0001 a0016c0039t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0188 others(12): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0222 a0001c0002t0001g0001 a0001c0002t0001g0031 a0001c0002t0001g0073 a0001c0002t0001g0089 a0001c0002t0001g0126 a0001c0020t0001g0113 a0001c0020t0020g0112 a0001c0030t0001g0232 a0002c0003t0001g0074 a0016c0039t0001g0186	15	77	0.1948	26	c.668 others(45): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA	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(19): Show GTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	63	0.0159	26	c.668 others(45): Show c.6682-1482_6682-1481insGTATATATATATATATATATATATAT	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(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03831.hp1 HG02630.hp2 HG03831.hp1	a0001 a0019 a0001 a0019	a0001c0002 a0019c0023 a0001c0002 a0019c0023	a0001c0002t0001 a0019c0023t0012 a0001c0002t0001 a0019c0023t0012	a0001c0002t0001g0211 a0019c0023t0012g0219 a0001c0002t0001g0211 a0019c0023t0012g0219	2	64	0.0313	26	c.668 others(45): Show c.6682-1484_6682-1483insGTATATATATATATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0005 a0005c0032t0005	a0005c0032t0005g0138 a0005c0032t0005g0138	1	63	0.0159	26	c.668 others(45): Show c.6682-1484_6682-1483insGTGTATATATATATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0008 a0001c0004t0003g0008	1	63	0.0159	26	c.668 others(45): Show c.6682-1484_6682-1483insGTGTGTATATATATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119202864	C C	CATATATA others(19): Show CATATATATATATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0082 a0001c0008t0001g0082	1	197	0.0051	26	c.774 others(43): Show c.7746-435_7746-434insATATATATATATATATATATATATTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	32/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119202891	A A	ATATATAT others(19): Show ATATATATATATATATATTTATATATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0005 a0001c0004t0003g0005	1	230	0.0043	26	c.774 others(43): Show c.7746-413_7746-412insATTTATATATTTATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	32/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0314 a0004c0005t0001g0314	1	188	0.0053	26	c.299 others(43): Show c.2992+474_2992+499dupCACACACACACACACACACACACACA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43			chr15	TogoVar
DNAAF10_chr2_68124805_68162527	68130115	G G	GAGAGAGA others(19): Show GAGAGAGAGAGATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0258 a0001c0001t0040g0258	1	124	0.0081	26	c.11 others(37): Show c.1122_*1123insATATATATATATATATCTCTCTCTCT	DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding	8/8	1122		chr2	TogoVar
DNAAF10_chr2_68124805_68162527	68130115	G G	GAGAGAGA others(19): Show GAGAGAGATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0259 a0001c0001t0038g0259	1	124	0.0081	26	c.11 others(37): Show c.1122_*1123insATATATATATATATATATATCTCTCT	DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding	8/8	1122		chr2	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(19): Show CTCTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp1 NA18993.hp1 others(2): Show HG02145.hp2 HG03471.hp1 NA18993.hp1 NA18993.hp2 NA19010.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0025 a0001c0001 a0002c0002 a0003c0025	a0001c0001t0002 a0002c0002t0001 a0003c0025t0001 a0001c0001t0002 a0002c0002t0001 a0003c0025t0001	a0001c0001t0002g0033 a0001c0001t0002g0413 a0002c0002t0001g0201 others(2): Show a0001c0001t0002g0033 a0001c0001t0002g0413 a0002c0002t0001g0201 a0002c0002t0001g0202 a0003c0025t0001g0414	5	82	0.0610	26	c.125 others(41): Show c.125-410_125-409insCTCTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTTTTT others(19): Show CTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18950.hp2 NA18961.hp2 others(2): Show NA18946.hp1 NA18950.hp2 NA18961.hp2 NA18963.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0207 a0001c0001t0002g0208 others(1): Show a0001c0001t0002g0019 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209	5	82	0.0610	26	c.125 others(41): Show c.125-410_125-409insCTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00673.hp2 others(20): Show HG00408.hp2 HG00597.hp2 HG00673.hp2 HG01928.hp2 HG02027.hp2 HG02135.hp1 HG02135.hp2 HG02602.hp2 HG03540.hp1 NA18747.hp2 NA18940.hp2 NA18947.hp2 NA18949.hp2 NA18963.hp2 NA18965.hp1 NA18979.hp2 NA18989.hp2 NA19002.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19083.hp1 NA19083.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0023 a0024	a0001c0001 a0001c0004 a0002c0002 others(5): Show a0001c0001 a0001c0004 a0002c0002 a0003c0005 a0003c0007 a0008c0011 a0023c0021 a0024c0028	a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 others(5): Show a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0003c0005t0001 a0003c0007t0002 a0008c0011t0001 a0023c0021t0002 a0024c0028t0002	a0001c0001t0002g0030 a0001c0001t0002g0347 a0001c0001t0002g0350 others(19): Show a0001c0001t0002g0030 a0001c0001t0002g0347 a0001c0001t0002g0350 a0001c0001t0002g0352 a0001c0001t0002g0354 a0001c0001t0002g0358 a0001c0004t0001g0349 a0001c0004t0001g0359 a0001c0004t0001g0360 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0361 a0002c0002t0001g0376 a0002c0002t0001g0387 a0003c0005t0001g0065 a0003c0005t0001g0066 a0003c0007t0002g0348 a0003c0007t0002g0351 a0008c0011t0001g0097 a0023c0021t0002g0353 a0024c0028t0002g0386	23	100	0.2300	26	c.125 others(41): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84168827	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18939.hp2 NA18952.hp1 others(5): Show HG02129.hp1 NA18939.hp2 NA18952.hp1 NA18952.hp2 NA18972.hp1 NA18977.hp1 NA19001.hp1 NA19066.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0010 a0002c0002 a0007c0010	a0002c0002t0001 a0007c0010t0002 a0002c0002t0001 a0007c0010t0002	a0002c0002t0001g0026 a0002c0002t0001g0241 a0002c0002t0001g0292 others(4): Show a0002c0002t0001g0026 a0002c0002t0001g0241 a0002c0002t0001g0292 a0002c0002t0001g0375 a0002c0002t0001g0383 a0007c0010t0002g0293 a0007c0010t0002g0294	8	35	0.2286	26	c.103 others(45): Show c.1031-1027_1031-1002dupACACACACACACACACACACACACAC	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55168386	C C	CATATATA others(19): Show CATATATATATATATATACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0101 a0001c0004t0001g0101	1	355	0.0028	26	c.-18 others(37): Show c.-1869_-1868insATATATATGTATATATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1774		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0129	1	149	0.0067	26	c.-18 others(37): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTCTCTCTAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170850	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01361.hp2 HG01934.hp2 others(12): Show HG00438.hp2 HG01361.hp2 HG01934.hp2 HG02004.hp1 HG03688.hp2 NA18747.hp2 NA18945.hp1 NA18953.hp1 NA18955.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp2 NA19003.hp1 NA19010.hp1 NA19074.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0007 a0003c0002t0001g0008 others(4): Show a0003c0002t0001g0002 a0003c0002t0001g0007 a0003c0002t0001g0008 a0003c0002t0001g0023 a0003c0002t0001g0041 a0003c0002t0001g0068 a0003c0002t0001g0075	15	296	0.0507	26	c.-43 others(37): Show c.-4333_-4332insGAGAGAGAGAGAGAGAGAGAGAGAGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4238		chr19	TogoVar
DNAAF9_chr20_3244306_3412669	3387884	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0044 a0001c0003t0004g0044	1	103	0.0097	26	c.84- others(41): Show c.84-5404_84-5379dupTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	1/36			chr20	TogoVar
DNAH11_chr7_21538039_21906839	21612554	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG02630.hp2 HG02886.hp1	a0123 a0132 a0123 a0132	a0123c0246 a0132c0047 a0123c0246 a0132c0047	a0123c0246t0001 a0132c0047t0001 a0123c0246t0001 a0132c0047t0001	a0123c0246t0001g0232 a0132c0047t0001g0114 a0123c0246t0001g0232 a0132c0047t0001g0114	2	105	0.0190	26	c.385 others(45): Show c.3853-2538_3853-2537insAAAAAAAAAAAAAAAAAAAAAAAAAA	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	20/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(19): Show ATATATATATATATATGTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18962.hp2 HG00741.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0170 a0001c0001t0001g0173	2	100	0.0200	26	c.111 others(45): Show c.11190-629_11190-628insAAAAAAAATACATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(19): Show ATATATATATATGTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18999.hp1 NA19062.hp1 others(1): Show NA18943.hp1 NA18999.hp1 NA19062.hp1 NA19066.hp1	a0001 a0002 a0061 a0001 a0002 a0061	a0001c0001 a0002c0002 a0061c0071 a0001c0001 a0002c0002 a0061c0071	a0001c0001t0001 a0002c0002t0001 a0061c0071t0001 a0001c0001t0001 a0002c0002t0001 a0061c0071t0001	a0001c0001t0001g0193 a0002c0002t0001g0128 a0002c0002t0001g0163 others(1): Show a0001c0001t0001g0193 a0002c0002t0001g0128 a0002c0002t0001g0163 a0061c0071t0001g0070	4	102	0.0392	26	c.111 others(45): Show c.11190-629_11190-628insAAAAAAAAAAAATACATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57333329	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG02055.hp1 HG02809.hp1	a0017 a0040 a0017 a0040	a0017c0009 a0040c0031 a0017c0009 a0040c0031	a0017c0009t0001 a0040c0031t0002 a0017c0009t0001 a0040c0031t0002	a0017c0009t0001g0115 a0040c0031t0002g0085 a0017c0009t0001g0115 a0040c0031t0002g0085	2	148	0.0135	26	c.997 others(45): Show c.9978+1135_9978+1136insAAAAAAAAAAAAAAAAAAAAAAAAAA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	62/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACACTAT others(19): Show CACACTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp2 HG03130.hp2 HG03471.hp2	a0024 a0052 a0024 a0052	a0024c0058 a0052c0054 a0024c0058 a0052c0054	a0024c0058t0001 a0052c0054t0002 a0024c0058t0001 a0052c0054t0002	a0024c0058t0001g0063 a0052c0054t0002g0016 a0024c0058t0001g0063 a0052c0054t0002g0016	2	144	0.0139	26	c.936 others(45): Show c.9360+2149_9360+2150insTATATATATATATATATATATAGTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACTATAT others(19): Show CACTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp2 NA19240.hp1 HG03139.hp2 HG03579.hp2 NA19240.hp1	a0003 a0018 a0070 a0003 a0018 a0070	a0003c0044 a0018c0030 a0070c0051 a0003c0044 a0018c0030 a0070c0051	a0003c0044t0001 a0018c0030t0001 a0070c0051t0001 a0003c0044t0001 a0018c0030t0001 a0070c0051t0001	a0003c0044t0001g0008 a0018c0030t0001g0147 a0070c0051t0001g0258 a0003c0044t0001g0008 a0018c0030t0001g0147 a0070c0051t0001g0258	3	145	0.0207	26	c.936 others(45): Show c.9360+2149_9360+2150insTATATATATATATATATATATATAGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	143	0.0070	26	c.936 others(45): Show c.9360+2124_9360+2149dupTATATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0044 a0044	a0044c0041 a0044c0041	a0044c0041t0001 a0044c0041t0001	a0044c0041t0001g0032 a0044c0041t0001g0032	1	134	0.0075	26	c.730 others(45): Show c.7305+2049_7305+2050insTATATATATATATATATATATATACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar

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