Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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	32536264	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0094 a0002c0013t0002g0094	1	54	0.0185	13	c.216 others(32): Show c.2168+8882_2168+8894dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	17/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32554868	G G	GAAGGAAA others(6): Show GAAGGAAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0038 a0004c0004t0001g0038	1	89	0.0112	13	c.199 others(32): Show c.1993-9535_1993-9534insTTCTTCTTTCCTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32558944	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0043 a0005c0043	a0005c0043t0014 a0005c0043t0014	a0005c0043t0014g0118 a0005c0043t0014g0118	1	124	0.0081	13	c.199 others(32): Show c.1992+6757_1992+6758insGAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32558945	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp1 HG02965.hp1 HG03486.hp1	a0002 a0005 a0002 a0005	a0002c0051 a0005c0052 a0002c0051 a0005c0052	a0002c0051t0003 a0005c0052t0006 a0002c0051t0003 a0005c0052t0006	a0002c0051t0003g0091 a0005c0052t0006g0099 a0002c0051t0003g0091 a0005c0052t0006g0099	2	124	0.0161	13	c.199 others(32): Show c.1992+6756_1992+6757insGAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32628258	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0112 a0002c0009t0002g0112	1	41	0.0244	13	c.133 others(34): Show c.1332-13818_1332-13806dupAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	11/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32863509	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0007 a0003c0010t0007	a0003c0010t0007g0010 a0003c0010t0007g0010	1	70	0.0143	13	c.94- others(30): Show c.94-13702_94-13690dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32883823	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0077 a0002c0009t0001g0077	1	41	0.0244	13	c.94- others(30): Show c.94-34016_94-34004dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32887745	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0120 a0005c0007t0001g0120	1	44	0.0227	13	c.94- others(30): Show c.94-37938_94-37926dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32964255	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02683.hp1 NA18970.hp1 others(3): Show HG01255.hp1 HG02683.hp1 NA18970.hp1 NA18977.hp1 NA18990.hp1 NA19085.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0002c0013 a0002c0016 others(3): Show a0001c0001 a0002c0013 a0002c0016 a0003c0003 a0004c0012 a0013c0059	a0001c0001t0010 a0002c0013t0002 a0002c0016t0005 others(3): Show a0001c0001t0010 a0002c0013t0002 a0002c0016t0005 a0003c0003t0001 a0004c0012t0001 a0013c0059t0004	a0001c0001t0010g0008 a0002c0013t0002g0124 a0002c0016t0005g0042 others(3): Show a0001c0001t0010g0008 a0002c0013t0002g0124 a0002c0016t0005g0042 a0003c0003t0001g0060 a0004c0012t0001g0030 a0013c0059t0004g0065	6	88	0.0682	13	c.93+ others(30): Show c.93+55871_93+55883dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33026313	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0094 a0002c0013t0002g0094	1	20	0.0500	13	c.32- others(28): Show c.32-6126_32-6114dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33033554	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp1 HG03225.hp1 others(1): Show HG02895.hp1 HG02922.hp1 HG03225.hp1 HG03579.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0013 a0002c0058 a0003c0010 others(1): Show a0002c0013 a0002c0058 a0003c0010 a0005c0007	a0002c0013t0002 a0002c0058t0003 a0003c0010t0007 others(1): Show a0002c0013t0002 a0002c0058t0003 a0003c0010t0007 a0005c0007t0002	a0002c0013t0002g0094 a0002c0058t0003g0051 a0003c0010t0007g0010 others(1): Show a0002c0013t0002g0094 a0002c0058t0003g0051 a0003c0010t0007g0010 a0005c0007t0002g0089	4	48	0.0833	13	c.32- others(30): Show c.32-13367_32-13355dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33051646	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0024 a0024	a0024c0034 a0024c0034	a0024c0034t0006 a0024c0034t0006	a0024c0034t0006g0007 a0024c0034t0006g0007	1	44	0.0227	13	c.32- others(30): Show c.32-31459_32-31447dupAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33139868	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0027 a0027	a0027c0044 a0027c0044	a0027c0044t0003 a0027c0044t0003	a0027c0044t0003g0122 a0027c0044t0003g0122	1	63	0.0159	13	c.31+ others(30): Show c.31+71401_31+71413dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMRT1_chr9_836697_974090	870403	A A	AAACTAAC others(6): Show AAACTAACAACAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03139.hp1 NA19043.hp1 HG00738.hp2 HG03139.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0008 a0001c0001 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0006t0001 a0003c0008t0001 a0001c0001t0001 a0001c0006t0001 a0003c0008t0001	a0001c0001t0001g0280 a0001c0006t0001g0204 a0003c0008t0001g0295 a0001c0001t0001g0280 a0001c0006t0001g0204 a0003c0008t0001g0295	3	241	0.0124	13	c.538 others(32): Show c.538+23263_538+23264insTAACAACAACAAC	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	890085	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0265 a0001c0001t0007g0265	1	123	0.0081	13	c.539 others(30): Show c.539-3818_539-3806dupTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT2_chr9_1045357_1062552	1060726	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00735.hp2 others(27): Show HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG02155.hp1 HG02738.hp1 HG03471.hp2 HG03688.hp2 HG03704.hp2 HG04204.hp1 NA18943.hp2 NA18960.hp2 NA18961.hp1 NA18973.hp2 NA19001.hp1 NA19011.hp2 NA19055.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19077.hp1 NA19080.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0014	a0001c0002 a0001c0003 a0001c0025 others(4): Show a0001c0002 a0001c0003 a0001c0025 a0002c0001 a0003c0004 a0005c0006 a0014c0027	a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 others(12): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0025t0001 a0002c0001t0001 a0002c0001t0004 a0002c0001t0028 a0003c0004t0007 a0003c0004t0009 a0005c0006t0012 a0014c0027t0007	a0001c0002t0002g0002 a0001c0002t0007g0025 a0001c0002t0008g0002 others(19): Show a0001c0002t0002g0002 a0001c0002t0007g0025 a0001c0002t0008g0002 a0001c0002t0008g0019 a0001c0003t0003g0012 a0001c0003t0004g0001 a0001c0003t0005g0005 a0001c0003t0005g0009 a0001c0003t0005g0013 a0001c0003t0006g0033 a0001c0025t0001g0043 a0002c0001t0001g0001 a0002c0001t0001g0004 a0002c0001t0001g0021 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0004g0001 a0002c0001t0028g0024 a0003c0004t0007g0003 a0003c0004t0009g0009 a0005c0006t0012g0011 a0014c0027t0007g0003	30	263	0.1141	13	c.34 others(24): Show c.3453_*3454insTTTTTTTTTTTTT	DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding		3175		chr9	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAATAT others(6): Show AATAATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	143	0.0070	13	c.836 others(28): Show c.836-900_836-899insATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18945.hp1 HG00733.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0126 a0001c0001t0010g0180 a0001c0001t0001g0126 a0001c0001t0010g0180	2	144	0.0139	13	c.836 others(28): Show c.836-903_836-902insTATATATATATAT	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMTN_chr8_22051814_22087525	22079301	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp2 others(30): Show HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01358.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG02004.hp2 HG02083.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 NA18747.hp2 NA18946.hp1 NA18984.hp2 NA19043.hp1 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0082 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0012g0162 a0001c0001t0016g0159 a0001c0001t0019g0135	33	177	0.1864	13	c.836 others(28): Show c.836-879_836-878insATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01169.hp2 others(4): Show HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01943.hp1 HG02080.hp2 HG02738.hp1 NA19060.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0002c0003 a0002c0034 others(2): Show a0001c0002 a0002c0003 a0002c0034 a0003c0005 a0006c0011	a0001c0002t0001 a0002c0003t0001 a0002c0034t0001 others(2): Show a0001c0002t0001 a0002c0003t0001 a0002c0034t0001 a0003c0005t0001 a0006c0011t0001	a0001c0002t0001g0238 a0002c0003t0001g0087 a0002c0003t0001g0088 others(4): Show a0001c0002t0001g0238 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0034t0001g0014 a0003c0005t0001g0108 a0003c0005t0001g0109 a0006c0011t0001g0124	7	151	0.0464	13	c.88- others(28): Show c.88-8686_88-8685insATATATATATATT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp2 HG01069.hp1 others(8): Show HG00609.hp2 HG00735.hp2 HG01069.hp1 HG01255.hp2 HG01261.hp2 HG02698.hp2 HG03453.hp2 NA18950.hp1 NA18959.hp1 NA18981.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006	a0001c0001t0001g0202 a0001c0001t0004g0210 a0001c0002t0001g0111 others(8): Show a0001c0001t0001g0202 a0001c0001t0004g0210 a0001c0002t0001g0111 a0001c0002t0001g0114 a0002c0003t0001g0062 a0002c0003t0001g0065 a0002c0003t0001g0070 a0002c0003t0001g0072 a0002c0003t0001g0078 a0002c0003t0004g0063 a0002c0003t0006g0077	11	155	0.0710	13	c.88- others(28): Show c.88-8686_88-8685insATATATATATTTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01109.hp1 others(2): Show HG00280.hp1 HG00323.hp2 HG01109.hp1 HG01496.hp2 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0122 a0001c0001t0001g0207 a0001c0002t0001g0084 others(2): Show a0001c0001t0001g0122 a0001c0001t0001g0207 a0001c0002t0001g0084 a0001c0002t0001g0095 a0002c0003t0001g0067	5	149	0.0336	13	c.88- others(28): Show c.88-8686_88-8685insATATATATTTTTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0208 a0001c0036t0001g0208	1	145	0.0069	13	c.88- others(28): Show c.88-8686_88-8685insATATATTTTTTTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089293	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01978.hp1 HG03017.hp1 HG00280.hp2 HG01978.hp1 HG03017.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0003 a0006c0011 a0001c0002 a0002c0003 a0006c0011	a0001c0002t0001 a0002c0003t0001 a0006c0011t0004 a0001c0002t0001 a0002c0003t0001 a0006c0011t0004	a0001c0002t0001g0099 a0002c0003t0001g0066 a0006c0011t0004g0107 a0001c0002t0001g0099 a0002c0003t0001g0066 a0006c0011t0004g0107	3	173	0.0173	13	c.88- others(28): Show c.88-8686_88-8685insATATATATATATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43			chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089999	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG04184.hp1 NA19030.hp1 HG02895.hp1 HG04184.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0042 a0001c0001 a0001c0012 a0001c0042	a0001c0001t0002 a0001c0012t0016 a0001c0042t0001 a0001c0001t0002 a0001c0012t0016 a0001c0042t0001	a0001c0001t0002g0055 a0001c0012t0016g0217 a0001c0042t0001g0180 a0001c0001t0002g0055 a0001c0012t0016g0217 a0001c0042t0001g0180	3	9	0.3333	13	c.88- others(28): Show c.88-7954_88-7942dupTTTTTTTTTTTTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119184059	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp2 HG03209.hp1 others(3): Show HG02257.hp1 HG02976.hp2 HG03209.hp1 HG03486.hp2 NA18522.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0012 a0005c0015 a0001c0002 a0001c0012 a0005c0015	a0001c0002t0005 a0001c0002t0021 a0001c0012t0001 others(1): Show a0001c0002t0005 a0001c0002t0021 a0001c0012t0001 a0005c0015t0005	a0001c0002t0005g0216 a0001c0002t0021g0037 a0001c0012t0001g0231 others(3): Show a0001c0002t0005g0216 a0001c0002t0021g0037 a0001c0012t0001g0231 a0005c0015t0005g0034 a0005c0015t0005g0035 a0005c0015t0005g0039	6	211	0.0284	13	c.713 others(32): Show c.7136-5637_7136-5636insTTTTTTTTTTTTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51523663	A A	ACAGAGGC others(6): Show ACAGAGGCAGACTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(144): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0002 a0004 a0007 others(7): Show a0002 a0004 a0007 a0008 a0010 a0011 a0014 a0015 a0016 a0017	a0002c0002 a0002c0004 a0002c0006 others(18): Show a0002c0002 a0002c0004 a0002c0006 a0002c0008 a0002c0011 a0002c0014 a0002c0027 a0002c0028 a0002c0031 a0002c0032 a0002c0033 a0004c0005 a0004c0035 a0007c0013 a0008c0030 a0010c0029 a0011c0034 a0014c0025 a0015c0024 a0016c0026 a0017c0036	a0002c0002t0001 a0002c0002t0006 a0002c0002t0010 others(22): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0010 a0002c0002t0012 a0002c0004t0001 a0002c0004t0008 a0002c0006t0001 a0002c0008t0001 a0002c0011t0002 a0002c0014t0001 a0002c0027t0001 a0002c0028t0001 a0002c0031t0001 a0002c0032t0001 a0002c0033t0007 a0004c0005t0001 a0004c0035t0001 a0007c0013t0002 a0008c0030t0001 a0010c0029t0001 a0011c0034t0007 a0014c0025t0001 a0015c0024t0001 a0016c0026t0001 a0017c0036t0001	a0002c0002t0001g0008 a0002c0002t0001g0207 a0002c0002t0001g0208 others(140): Show a0002c0002t0001g0008 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0262 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0330 a0002c0002t0006g0324 a0002c0002t0006g0331 a0002c0002t0010g0206 a0002c0002t0012g0333 a0002c0004t0001g0009 a0002c0004t0001g0291 a0002c0004t0001g0292 a0002c0004t0001g0293 a0002c0004t0001g0294 a0002c0004t0001g0295 a0002c0004t0001g0296 a0002c0004t0001g0297 a0002c0004t0001g0298 a0002c0004t0001g0299 a0002c0004t0001g0300 a0002c0004t0001g0301 a0002c0004t0001g0302 a0002c0004t0001g0303 a0002c0004t0001g0304 a0002c0004t0001g0306 a0002c0004t0001g0308 a0002c0004t0001g0309 a0002c0004t0001g0310 a0002c0004t0001g0311 a0002c0004t0001g0312 a0002c0004t0001g0313 a0002c0004t0008g0307 a0002c0006t0001g0002 a0002c0006t0001g0041 a0002c0006t0001g0042 a0002c0006t0001g0043 a0002c0006t0001g0044 a0002c0006t0001g0045 a0002c0006t0001g0046 a0002c0006t0001g0047 a0002c0006t0001g0048 a0002c0008t0001g0243 a0002c0008t0001g0264 a0002c0008t0001g0265 a0002c0008t0001g0266 a0002c0008t0001g0267 a0002c0008t0001g0268 a0002c0008t0001g0269 a0002c0011t0002g0050 a0002c0011t0002g0051 a0002c0011t0002g0052 a0002c0014t0001g0216 a0002c0014t0001g0217 a0002c0027t0001g0329 a0002c0028t0001g0261 a0002c0031t0001g0282 a0002c0032t0001g0246 a0002c0033t0007g0204 a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0314 a0004c0005t0001g0315 a0004c0005t0001g0316 a0004c0005t0001g0317 a0004c0005t0001g0318 a0004c0005t0001g0319 a0004c0005t0001g0320 a0004c0005t0001g0321 a0004c0005t0001g0322 a0004c0005t0001g0323 a0004c0035t0001g0201 a0007c0013t0002g0053 a0007c0013t0002g0054 a0008c0030t0001g0263 a0010c0029t0001g0245 a0011c0034t0007g0205 a0014c0025t0001g0247 a0015c0024t0001g0305 a0016c0026t0001g0281 a0017c0036t0001g0226	147	344	0.4273	13	c.243 others(32): Show c.2437-6497_2437-6496insCAGTCTGCCTCTG	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	13/43			chr15	TogoVar
DMXL2_chr15_51442791_51627771	51576183	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02723.hp1 HG02818.hp2 others(6): Show HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03139.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0002 a0002c0008 a0001c0010 a0002c0002 a0002c0008	a0001c0010t0002 a0002c0002t0001 a0002c0008t0001 a0001c0010t0002 a0002c0002t0001 a0002c0008t0001	a0001c0010t0002g0270 a0002c0002t0001g0238 a0002c0002t0001g0239 others(6): Show a0001c0010t0002g0270 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0008t0001g0265 a0002c0008t0001g0266 a0002c0008t0001g0267 a0002c0008t0001g0268	9	142	0.0634	13	c.88- others(23): Show c.88-15_88-3dupTTTTTTTTTTTTT	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DMXL2_chr15_51442791_51627771	51601290	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp2 HG02922.hp2 HG03579.hp2	a0002 a0011 a0002 a0011	a0002c0033 a0011c0034 a0002c0033 a0011c0034	a0002c0033t0007 a0011c0034t0007 a0002c0033t0007 a0011c0034t0007	a0002c0033t0007g0204 a0011c0034t0007g0205 a0002c0033t0007g0204 a0011c0034t0007g0205	2	193	0.0104	13	c.87+ others(30): Show c.87+21156_87+21168dupTTTTTTTTTTTTT	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DNA2_chr10_68409064_68476973	68461828	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0034 a0001c0009t0004g0035 a0001c0009t0004g0036 a0001c0009t0004g0034 a0001c0009t0004g0035 a0001c0009t0004g0036	3	157	0.0191	13	c.588 others(30): Show c.588-2606_588-2594dupTTTTTTTTTTTTT	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	4/20			chr10	TogoVar
DNAAF10_chr2_68124805_68162527	68126985	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA19083.hp2 NA18993.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0014	2	102	0.0196	13	c.42 others(24): Show c.4240_*4252dupAAAAAAAAAAAAA	DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding		2819		chr2	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(6): Show CTCTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0154 a0001c0008t0001g0154	1	78	0.0128	13	c.125 others(28): Show c.125-410_125-409insCTCTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84156415	G G	GTATCCAG others(6): Show GTATCCAGGCTCCA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0095 a0008c0011t0001g0095	1	454	0.0022	13	c.741 others(28): Show c.741+670_741+682dupCCAGGCTCCATAT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF4_chr15_55425308_55513234	55498593	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02258.hp1 others(6): Show HG01884.hp2 HG02055.hp1 HG02258.hp1 HG02451.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0002 a0002c0002t0004	a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 others(6): Show a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0002c0002t0002g0249 a0002c0002t0002g0270 a0002c0002t0004g0209 a0002c0002t0004g0291	9	161	0.0559	13	c.-25 others(28): Show c.-255-22_-255-10dupTTTTTTTTTTTTT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	1/9			chr15	TogoVar
DNAAF6_chrX_107201611_107249247	107229127	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(39): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00673.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01175.hp2 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02165.hp1 HG02300.hp1 HG02897.hp2 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG04184.hp2 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp1 NA18949.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18987.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19074.hp1 NA19084.hp1 NA19085.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0131 a0001c0001t0001g0156 a0001c0001t0001g0161 others(19): Show a0001c0001t0001g0131 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0164	42	139	0.3022	13	c.429 others(30): Show c.429+6302_429+6314dupTTTTTTTTTTTTT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
DNAAF8_chr16_4729537_4754396	4739265	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01255.hp2 others(12): Show HG00673.hp1 HG00733.hp1 HG01255.hp2 HG01361.hp1 HG02080.hp1 HG02080.hp2 HG03579.hp2 NA18612.hp1 NA18979.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19082.hp1	a0002 a0004 a0017 a0002 a0004 a0017	a0002c0002 a0004c0004 a0017c0027 a0002c0002 a0004c0004 a0017c0027	a0002c0002t0001 a0002c0002t0009 a0004c0004t0001 others(2): Show a0002c0002t0001 a0002c0002t0009 a0004c0004t0001 a0004c0004t0010 a0017c0027t0001	a0002c0002t0001g0010 a0002c0002t0001g0063 a0002c0002t0001g0123 others(7): Show a0002c0002t0001g0010 a0002c0002t0001g0063 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0009g0010 a0004c0004t0001g0126 a0004c0004t0010g0068 a0017c0027t0001g0122	15	111	0.1351	13	c.277 others(28): Show c.277-879_277-867dupTTTTTTTTTTTTT	DNAAF8	ENSG00000166246.14	transcript	ENST00000299320.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF9_chr20_3244306_3412669	3247159	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0010 a0001c0003t0006g0010	1	100	0.0100	13	c.54 others(24): Show c.5412_*5413insTTTTTTTTTTTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding		2146		chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3268897	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0024 a0001c0020t0024	a0001c0020t0024g0068 a0001c0020t0024g0068	1	149	0.0067	13	c.278 others(32): Show c.2786+1517_2786+1529dupAAAAAAAAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	30/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3293292	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19056.hp2 NA19012.hp1 NA19056.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0351 a0001c0006t0008g0355 a0001c0006t0008g0351 a0001c0006t0008g0355	2	87	0.0230	13	c.223 others(30): Show c.2238+834_2238+846dupTTTTTTTTTTTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	25/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3310385	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	360	0.0028	13	c.167 others(32): Show c.1678+4647_1678+4648insTCTTTCTTTCTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3332887	C C	CGTGTGTG others(6): Show CGTGTGTGTGGTGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0352 a0001c0006t0008g0352	1	359	0.0028	13	c.982 others(28): Show c.982-527_982-526insACACCACACACAC	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	10/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3336252	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0026 a0001c0003t0004g0026	1	263	0.0038	13	c.982 others(30): Show c.982-3892_982-3891insAAAAAAAAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	10/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3387884	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02165.hp2 HG03834.hp1 others(10): Show HG02155.hp2 HG02165.hp2 HG03834.hp1 NA18941.hp2 NA18942.hp1 NA18966.hp2 NA18969.hp2 NA18982.hp1 NA18983.hp2 NA18999.hp1 NA19002.hp2 NA19068.hp1 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0031 a0001c0004t0003 a0001c0004t0031	a0001c0004t0003g0087 a0001c0004t0003g0089 a0001c0004t0003g0090 others(10): Show a0001c0004t0003g0087 a0001c0004t0003g0089 a0001c0004t0003g0090 a0001c0004t0003g0091 a0001c0004t0003g0092 a0001c0004t0003g0103 a0001c0004t0003g0104 a0001c0004t0003g0105 a0001c0004t0003g0109 a0001c0004t0003g0111 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0031g0088	13	115	0.1130	13	c.84- others(28): Show c.84-5391_84-5379dupTTTTTTTTTTTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	1/36			chr20	TogoVar
DNAH10_chr12_123757301_123940714	123765585	T T	TATCTATC others(6): Show TATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	156	0.0064	13	c.215 others(30): Show c.215-2020_215-2008dupATCTATCTATCTA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	1/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911596	G G	GGGGAGTC others(6): Show GGGGAGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1	a0057 a0058 a0059 a0057 a0058 a0059	a0057c0040 a0058c0037 a0059c0051 a0057c0040 a0058c0037 a0059c0051	a0057c0040t0001 a0058c0037t0001 a0059c0051t0001 a0057c0040t0001 a0058c0037t0001 a0059c0051t0001	a0057c0040t0001g0017 a0058c0037t0001g0130 a0059c0051t0001g0040 a0057c0040t0001g0017 a0058c0037t0001g0130 a0059c0051t0001g0040	3	167	0.0180	13	c.101 others(32): Show c.10134+927_10134+928insAGTCTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911657	G G	GGGGGGTC others(6): Show GGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0037 a0005c0007t0002g0037	1	155	0.0065	13	c.101 others(32): Show c.10134+990_10134+991insTCTGTCCTGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911672	G G	GGGGGGTC others(6): Show GGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp2 HG02109.hp2 others(7): Show HG01891.hp1 HG01934.hp2 HG02109.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG03688.hp1 HG03927.hp1 HG04204.hp2 NA20752.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0025	a0001c0003 a0002c0004 a0005c0007 others(1): Show a0001c0003 a0002c0004 a0005c0007 a0025c0030	a0001c0003t0002 a0002c0004t0002 a0005c0007t0002 others(1): Show a0001c0003t0002 a0002c0004t0002 a0005c0007t0002 a0025c0030t0002	a0001c0003t0002g0050 a0002c0004t0002g0036 a0002c0004t0002g0143 others(7): Show a0001c0003t0002g0050 a0002c0004t0002g0036 a0002c0004t0002g0143 a0002c0004t0002g0144 a0005c0007t0002g0006 a0005c0007t0002g0007 a0005c0007t0002g0041 a0005c0007t0002g0045 a0025c0030t0002g0140 a0025c0030t0002g0141	10	157	0.0637	13	c.101 others(34): Show c.10134+1005_10134+1006insTCTGTCCTGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911672	G G	GGGGGGTT others(6): Show GGGGGGTTTGTCCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0115 a0006c0027t0001g0115	1	148	0.0068	13	c.101 others(34): Show c.10134+1005_10134+1006insTTTGTCCTGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911673	G G	GGGGAGTC others(6): Show GGGGAGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01168.hp1 others(21): Show HG00544.hp1 HG00741.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01433.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02602.hp1 HG02886.hp2 HG03239.hp1 HG03688.hp2 HG03710.hp1 HG04184.hp1 NA18944.hp1 NA18950.hp1 NA18960.hp1 NA18964.hp1 NA18977.hp2 NA18979.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0018 a0028 a0036 a0063 a0065	a0001c0001 a0001c0002 a0001c0041 others(10): Show a0001c0001 a0001c0002 a0001c0041 a0001c0046 a0001c0067 a0002c0029 a0003c0019 a0006c0026 a0018c0017 a0028c0069 a0036c0055 a0063c0056 a0065c0034	a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 others(10): Show a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 a0001c0046t0001 a0001c0067t0001 a0002c0029t0001 a0003c0019t0002 a0006c0026t0002 a0018c0017t0001 a0028c0069t0001 a0036c0055t0002 a0063c0056t0001 a0065c0034t0001	a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0059 others(21): Show a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0099 a0001c0002t0002g0072 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0116 a0001c0002t0002g0161 a0001c0041t0001g0159 a0001c0046t0001g0153 a0001c0067t0001g0082 a0002c0029t0001g0131 a0002c0029t0001g0142 a0003c0019t0002g0093 a0006c0026t0002g0079 a0006c0026t0002g0081 a0018c0017t0001g0076 a0018c0017t0001g0101 a0028c0069t0001g0057 a0036c0055t0002g0069 a0063c0056t0001g0073 a0065c0034t0001g0056	24	166	0.1446	13	c.101 others(34): Show c.10134+1004_10134+1005insAGTCTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911861	T T	TTTGTCCT others(6): Show TTTGTCCTGGGGGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0086 a0002c0011t0001g0086	1	164	0.0061	13	c.101 others(34): Show c.10134+1189_10134+1190insTTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78			chr12	TogoVar

Search by Variant

Search

Search Results