Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18994.hp1 NA19058.hp1 HG01099.hp1 NA18994.hp1 NA19058.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0002 a0006c0006 a0008c0010 a0001c0002 a0006c0006 a0008c0010	a0001c0002t0001 a0006c0006t0001 a0008c0010t0001 a0001c0002t0001 a0006c0006t0001 a0008c0010t0001	a0001c0002t0001g0088 a0006c0006t0001g0019 a0008c0010t0001g0044 a0001c0002t0001g0088 a0006c0006t0001g0019 a0008c0010t0001g0044	3	126	0.0238	31	c.592 others(50): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32859547	T T	TTATATTA others(24): Show TTATATTATAATATATATATAATATTATATTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0009 a0008c0010t0009	a0008c0010t0009g0004 a0008c0010t0009g0004	1	126	0.0079	31	c.94- others(46): Show c.94-9728_94-9727insTAATATAATATTATATATATATTATAATAT A	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32949966	A A	AAAATAAA others(24): Show AAAATAAACATCCAGTGTAAAGGTGCAGAGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02735.hp1 HG03195.hp1 others(4): Show HG02723.hp2 HG02735.hp1 HG03195.hp1 HG03486.hp2 HG03654.hp1 HG04228.hp1 NA18994.hp1	a0001 a0006 a0022 others(2): Show a0001 a0006 a0022 a0028 a0032	a0001c0001 a0001c0002 a0001c0054 others(4): Show a0001c0001 a0001c0002 a0001c0054 a0006c0006 a0022c0025 a0028c0046 a0032c0036	a0001c0001t0001 a0001c0002t0001 a0001c0054t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0054t0001 a0006c0006t0008 a0022c0025t0006 a0028c0046t0029 a0032c0036t0004	a0001c0001t0001g0069 a0001c0002t0001g0088 a0001c0054t0001g0100 others(4): Show a0001c0001t0001g0069 a0001c0002t0001g0088 a0001c0054t0001g0100 a0006c0006t0008g0031 a0022c0025t0006g0108 a0028c0046t0029g0126 a0032c0036t0004g0011	7	126	0.0556	31	c.93+ others(48): Show c.93+70172_93+70173insGCCTCTGCACCTTTACACTGGATGTTTA TTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(24): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01943.hp1 HG01515.hp1 HG01943.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0002 a0005c0007t0001 a0001c0002t0002 a0005c0007t0001	a0001c0002t0002g0056 a0005c0007t0001g0079 a0001c0002t0002g0056 a0005c0007t0001g0079	2	126	0.0159	31	c.32- others(48): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMPK_chr19_45764717_45787490	45785566	C C	CAGGAGAA others(24): Show CAGGAGAAAACAAATTGATCCACATAATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	416	0.0024	31	c.-32 others(42): Show c.-3215_-3214insAATTATTATGTGGATCAATTTGTTTTCTCCT	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding		3077		chr19	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	456	0.0022	31	c.125 others(46): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55170873	T T	TCTCTCTC others(24): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0038 a0005c0008t0001g0038	1	398	0.0025	31	c.-43 others(42): Show c.-4356_-4355insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4261		chr19	TogoVar
DNAAF9_chr20_3244306_3412669	3310333	A A	AAAAGAAA others(24): Show AAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0026 a0001c0003t0004g0026	1	362	0.0028	31	c.167 others(50): Show c.1678+4699_1678+4700insCTTTCTTTCTTTCTTTCTTTTTTCTT TCTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAH10_chr12_123757301_123940714	123911285	A A	ATCTGTCC others(24): Show ATCTGTCCTGGGGGGTCTGTCCTGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0164 a0002c0011t0001g0164	1	170	0.0059	31	c.101 others(50): Show c.10134+643_10134+644insGTCTGTCCTGGGGGGTCTGTCCTGGG GGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911307	T T	TGGGGGGG others(24): Show TGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	170	0.0059	31	c.101 others(50): Show c.10134+643_10134+673dupGTCTGTCCTGGGGGGTCTGTCCTGGG GGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911734	G G	GGGGGTCT others(24): Show GGGGGTCTGTCCTGGGCGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02486.hp1 HG01175.hp2 HG02486.hp1	a0001 a0072 a0001 a0072	a0001c0068 a0072c0075 a0001c0068 a0072c0075	a0001c0068t0001 a0072c0075t0001 a0001c0068t0001 a0072c0075t0001	a0001c0068t0001g0160 a0072c0075t0001g0124 a0001c0068t0001g0160 a0072c0075t0001g0124	2	170	0.0118	31	c.101 others(52): Show c.10134+1066_10134+1067insTCTGTCCTGGGCGGGGGGGTCTGT CCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21612575	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0186 a0186	a0186c0247 a0186c0247	a0186c0247t0002 a0186c0247t0002	a0186c0247t0002g0167 a0186c0247t0002g0167	1	298	0.0034	31	c.385 others(50): Show c.3853-2538_3853-2537insAAAAAAAAAAAAAAAAAAAAAAAAAA AGAGA	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	20/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21903638	T T	TTTACCGA others(24): Show TTTACCGAGGGAGCTGAGAGAGGTTATACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00597.hp2 others(89): Show HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA19085.hp2	a0002 a0004 a0006 others(72): Show a0002 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0018 a0020 a0024 a0031 a0033 a0034 a0035 a0039 a0045 a0046 a0051 a0065 a0072 a0078 a0085 a0087 a0088 a0095 a0101 a0105 a0108 a0111 a0114 a0116 a0117 a0120 a0122 a0123 a0126 a0131 a0133 a0137 a0139 a0142 a0146 a0147 a0150 a0154 a0155 a0156 a0158 a0161 a0177 a0178 a0183 a0184 a0186 a0188 a0192 a0193 a0194 a0198 a0200 a0201 a0204 a0205 a0211 a0218 a0219 a0220 a0221 a0225 a0226	a0002c0090 a0002c0091 a0002c0107 others(85): Show a0002c0090 a0002c0091 a0002c0107 a0002c0141 a0004c0009 a0004c0054 a0004c0062 a0004c0081 a0006c0161 a0007c0112 a0007c0151 a0008c0214 a0009c0270 a0010c0004 a0010c0035 a0011c0006 a0012c0169 a0013c0014 a0015c0120 a0015c0124 a0016c0268 a0016c0271 a0016c0277 a0018c0202 a0020c0044 a0024c0144 a0031c0263 a0033c0021 a0034c0020 a0035c0198 a0035c0203 a0039c0222 a0039c0223 a0045c0096 a0046c0098 a0051c0077 a0065c0047 a0072c0046 a0078c0093 a0085c0150 a0087c0106 a0088c0158 a0095c0113 a0101c0153 a0105c0104 a0108c0172 a0111c0087 a0114c0056 a0116c0060 a0117c0057 a0120c0058 a0122c0182 a0123c0181 a0126c0064 a0131c0072 a0133c0074 a0137c0174 a0139c0130 a0142c0122 a0146c0118 a0147c0126 a0150c0129 a0154c0178 a0155c0176 a0156c0177 a0158c0180 a0161c0250 a0177c0246 a0178c0243 a0183c0211 a0184c0276 a0186c0247 a0188c0209 a0192c0200 a0193c0196 a0194c0204 a0198c0207 a0200c0195 a0201c0208 a0204c0236 a0205c0225 a0211c0233 a0218c0275 a0219c0249 a0220c0255 a0221c0256 a0225c0257 a0226c0260	a0002c0090t0020 a0002c0091t0002 a0002c0107t0002 others(86): Show a0002c0090t0020 a0002c0091t0002 a0002c0107t0002 a0002c0141t0002 a0004c0009t0002 a0004c0054t0002 a0004c0062t0002 a0004c0081t0002 a0006c0161t0008 a0007c0112t0006 a0007c0151t0006 a0008c0214t0006 a0009c0270t0006 a0010c0004t0002 a0010c0035t0002 a0011c0006t0002 a0012c0169t0008 a0013c0014t0002 a0013c0014t0013 a0015c0120t0002 a0015c0124t0002 a0016c0268t0002 a0016c0271t0002 a0016c0277t0002 a0018c0202t0006 a0020c0044t0002 a0024c0144t0002 a0031c0263t0002 a0033c0021t0002 a0034c0020t0006 a0035c0198t0002 a0035c0203t0002 a0039c0222t0002 a0039c0223t0002 a0045c0096t0002 a0046c0098t0002 a0051c0077t0002 a0065c0047t0001 a0072c0046t0025 a0078c0093t0002 a0085c0150t0002 a0087c0106t0006 a0088c0158t0001 a0095c0113t0002 a0101c0153t0003 a0105c0104t0002 a0108c0172t0008 a0111c0087t0002 a0114c0056t0001 a0116c0060t0001 a0117c0057t0002 a0120c0058t0022 a0122c0182t0008 a0123c0181t0001 a0126c0064t0002 a0131c0072t0002 a0133c0074t0006 a0137c0174t0002 a0139c0130t0002 a0142c0122t0002 a0146c0118t0001 a0147c0126t0002 a0150c0129t0002 a0154c0178t0002 a0155c0176t0002 a0156c0177t0002 a0158c0180t0006 a0161c0250t0002 a0177c0246t0001 a0178c0243t0002 a0183c0211t0012 a0184c0276t0013 a0186c0247t0002 a0188c0209t0002 a0192c0200t0012 a0193c0196t0023 a0194c0204t0002 a0198c0207t0002 a0200c0195t0002 a0201c0208t0006 a0204c0236t0002 a0205c0225t0002 a0211c0233t0002 a0218c0275t0002 a0219c0249t0002 a0220c0255t0002 a0221c0256t0007 a0225c0257t0007 a0226c0260t0016	a0002c0090t0020g0027 a0002c0091t0002g0015 a0002c0107t0002g0067 others(89): Show a0002c0090t0020g0027 a0002c0091t0002g0015 a0002c0107t0002g0067 a0002c0141t0002g0026 a0004c0009t0002g0038 a0004c0054t0002g0063 a0004c0062t0002g0281 a0004c0081t0002g0061 a0006c0161t0008g0099 a0007c0112t0006g0094 a0007c0151t0006g0025 a0008c0214t0006g0175 a0009c0270t0006g0148 a0010c0004t0002g0237 a0010c0004t0002g0247 a0010c0035t0002g0283 a0011c0006t0002g0248 a0011c0006t0002g0298 a0012c0169t0008g0116 a0013c0014t0002g0053 a0013c0014t0013g0047 a0015c0120t0002g0070 a0015c0124t0002g0103 a0016c0268t0002g0150 a0016c0271t0002g0153 a0016c0277t0002g0155 a0018c0202t0006g0163 a0020c0044t0002g0269 a0024c0144t0002g0051 a0031c0263t0002g0140 a0033c0021t0002g0144 a0034c0020t0006g0138 a0034c0020t0006g0145 a0035c0198t0002g0143 a0035c0203t0002g0162 a0039c0222t0002g0181 a0039c0223t0002g0178 a0045c0096t0002g0066 a0046c0098t0002g0106 a0051c0077t0002g0046 a0065c0047t0001g0114 a0072c0046t0025g0120 a0078c0093t0002g0030 a0085c0150t0002g0295 a0087c0106t0006g0096 a0088c0158t0001g0012 a0095c0113t0002g0111 a0101c0153t0003g0077 a0105c0104t0002g0261 a0108c0172t0008g0087 a0111c0087t0002g0020 a0114c0056t0001g0118 a0116c0060t0001g0005 a0117c0057t0002g0266 a0120c0058t0022g0002 a0122c0182t0008g0044 a0123c0181t0001g0003 a0126c0064t0002g0290 a0131c0072t0002g0287 a0133c0074t0006g0291 a0137c0174t0002g0023 a0139c0130t0002g0017 a0142c0122t0002g0076 a0146c0118t0001g0045 a0147c0126t0002g0042 a0150c0129t0002g0074 a0154c0178t0002g0126 a0155c0176t0002g0124 a0156c0177t0002g0123 a0158c0180t0006g0122 a0161c0250t0002g0133 a0177c0246t0001g0231 a0178c0243t0002g0195 a0183c0211t0012g0232 a0184c0276t0013g0154 a0186c0247t0002g0167 a0188c0209t0002g0164 a0192c0200t0012g0134 a0193c0196t0023g0169 a0194c0204t0002g0165 a0198c0207t0002g0166 a0200c0195t0002g0168 a0201c0208t0006g0177 a0204c0236t0002g0213 a0205c0225t0002g0204 a0211c0233t0002g0205 a0218c0275t0002g0183 a0219c0249t0002g0217 a0220c0255t0002g0160 a0221c0256t0007g0221 a0225c0257t0007g0222 a0226c0260t0016g0226	92	298	0.3087	31	c.23 others(42): Show c.2384_*2385insTTACCGAGGGAGCTGAGAGAGGTTATACACC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding		1800		chr7	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(24): Show ATATATATATATATATATATGTATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18970.hp1 NA18942.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0156 a0002c0002t0001g0123 a0002c0002t0001g0156	2	266	0.0075	31	c.111 others(50): Show c.11190-629_11190-628insAAAAAAAAATACATATATATATATAT ATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(24): Show ATATATATATGTATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0002 a0012c0010t0002	a0012c0010t0002g0260 a0012c0010t0002g0260	1	266	0.0038	31	c.111 others(50): Show c.11190-629_11190-628insAAAAAAAAAAAAAAAAAAATACATAT ATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57333329	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0001 a0020c0019t0001	a0020c0019t0001g0005 a0020c0019t0001g0005	1	266	0.0038	31	c.997 others(50): Show c.9978+1135_9978+1136insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	62/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	266	0.0038	31	c.730 others(50): Show c.7305+1447_7305+1448insATATATATATATATATATTTTTTTTT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	266	0.0038	31	c.730 others(50): Show c.7305+1447_7305+1448insATATATATATATATATATATTTTTTT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02896.hp2 HG04115.hp1 HG02698.hp1 HG02896.hp2 HG04115.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0027 a0009c0024 a0001c0001 a0001c0027 a0009c0024	a0001c0001t0001 a0001c0027t0001 a0009c0024t0001 a0001c0001t0001 a0001c0027t0001 a0009c0024t0001	a0001c0001t0001g0171 a0001c0027t0001g0185 a0009c0024t0001g0183 a0001c0001t0001g0171 a0001c0027t0001g0185 a0009c0024t0001g0183	3	266	0.0113	31	c.730 others(50): Show c.7305+1447_7305+1448insATATATATATATATATATATATTTTT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	266	0.0038	31	c.730 others(50): Show c.7305+1447_7305+1448insATATATATATATATATATATATATTT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	266	0.0038	31	c.730 others(50): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0064 a0064	a0064c0072 a0064c0072	a0064c0072t0001 a0064c0072t0001	a0064c0072t0001g0209 a0064c0072t0001g0209	1	266	0.0038	31	c.133 others(50): Show c.1335+1673_1335+1674insATATATATATATATTTTTTTTTTTTT TTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH17_chr17_78418697_78582396	78433923	A A	AGAAGGAA others(24): Show AGAAGGAAGGAAGGAGGGAGGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0012 a0012	a0012c0167 a0012c0167	a0012c0167t0001 a0012c0167t0001	a0012c0167t0001g0094 a0012c0167t0001g0094	1	252	0.0040	31	c.122 others(50): Show c.12225+105_12225+106insCTCCCTCCTTCCCTCCCTCCTTCCTT CCTTC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/80			chr17	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AGAGAGAG others(24): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03209.hp2 HG00609.hp2 HG03209.hp2	a0005 a0014 a0005 a0014	a0005c0019 a0014c0132 a0005c0019 a0014c0132	a0005c0019t0001 a0014c0132t0001 a0005c0019t0001 a0014c0132t0001	a0005c0019t0001g0077 a0014c0132t0001g0192 a0005c0019t0001g0077 a0014c0132t0001g0192	2	252	0.0079	31	c.527 others(48): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0081 a0081	a0081c0140 a0081c0140	a0081c0140t0001 a0081c0140t0001	a0081c0140t0001g0031 a0081c0140t0001g0031	1	284	0.0035	31	c.-35 others(46): Show c.-35+546_-35+547insATATATATATATATTTTTTTTTTTTTTTTT T	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38818537	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0026 a0026	a0026c0043 a0026c0043	a0026c0043t0001 a0026c0043t0001	a0026c0043t0001g0225 a0026c0043t0001g0225	1	284	0.0035	31	c.352 others(50): Show c.3523+2896_3523+2897insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	26/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	336	0.0030	31	c.189 others(44): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GAGAGAGA others(24): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18962.hp2 HG04199.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0095 a0001c0001t0001g0046 a0001c0001t0001g0095	2	336	0.0060	31	c.124 others(50): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAJC13_chr3_132412502_132544032	132487559	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp2 HG03098.hp1 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0002g0300 a0004c0005t0001g0289 a0001c0001t0002g0300 a0004c0005t0001g0289	2	318	0.0063	31	c.326 others(48): Show c.3268-719_3268-718insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC15_chr13_43018586_43119213	43051356	C C	CTAAAGAT others(24): Show CTAAAGATAAATCTTTAGATACACTAAAATGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19072.hp2 NA18975.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0275 a0001c0001t0002g0214 a0001c0001t0002g0275	2	352	0.0057	31	c.109 others(50): Show c.109-14329_109-14328insAAAGATAAATCTTTAGATACACTAAA ATGAT	DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02132.hp2 HG00597.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0150 a0001c0001t0005g0109 a0001c0001t0005g0150	2	374	0.0054	31	c.83- others(46): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237085	A A	AGAGAGAG others(24): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	338	0.0030	31	c.29 others(42): Show c.2901_*2902insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2805		chr11	TogoVar
DNAJC6_chr1_65304543_65420871	65362164	G G	GGCTCAAT others(24): Show GGCTCAATCTCAACTCTGCTAGTAAATAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0005 others(17): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0015 a0002c0002 a0002c0004 a0002c0008 a0002c0013 a0002c0014 a0003c0007 a0004c0009 a0005c0010 a0006c0020 a0007c0016 a0008c0017 a0009c0018 a0010c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0009 a0001c0003t0012 a0001c0003t0013 a0001c0003t0024 a0001c0003t0026 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0018 a0001c0006t0005 a0001c0006t0013 a0001c0006t0015 a0001c0011t0028 a0001c0012t0001 a0001c0015t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0014 a0002c0002t0027 a0002c0002t0029 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0007 a0002c0004t0008 a0002c0004t0011 a0002c0004t0017 a0002c0004t0025 a0002c0008t0004 a0002c0008t0013 a0002c0013t0030 a0002c0014t0004 a0003c0007t0001 a0003c0007t0007 a0003c0007t0022 a0003c0007t0023 a0004c0009t0004 a0005c0010t0003 a0005c0010t0004 a0006c0020t0005 a0007c0016t0001 a0008c0017t0006 a0009c0018t0001 a0010c0019t0004	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(247): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0001g0189 a0001c0001t0002g0047 a0001c0001t0002g0062 a0001c0001t0002g0118 a0001c0001t0002g0135 a0001c0001t0002g0222 a0001c0001t0002g0311 a0001c0001t0003g0030 a0001c0001t0003g0104 a0001c0001t0003g0187 a0001c0001t0003g0205 a0001c0001t0003g0234 a0001c0001t0005g0001 a0001c0001t0005g0045 a0001c0001t0005g0048 a0001c0001t0005g0069 a0001c0001t0006g0093 a0001c0001t0006g0239 a0001c0001t0007g0125 a0001c0001t0008g0009 a0001c0001t0008g0109 a0001c0001t0008g0117 a0001c0001t0008g0143 a0001c0001t0010g0122 a0001c0001t0020g0129 a0001c0001t0021g0039 a0001c0003t0001g0002 a0001c0003t0001g0015 a0001c0003t0001g0056 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0139 a0001c0003t0001g0145 a0001c0003t0001g0155 a0001c0003t0001g0163 a0001c0003t0001g0190 a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0003t0001g0226 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0075 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0094 a0001c0003t0002g0101 a0001c0003t0002g0111 a0001c0003t0002g0124 a0001c0003t0002g0142 a0001c0003t0002g0147 a0001c0003t0003g0049 a0001c0003t0003g0065 a0001c0003t0003g0071 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0076 a0001c0003t0003g0077 a0001c0003t0003g0097 a0001c0003t0003g0100 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0123 a0001c0003t0003g0138 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0144 a0001c0003t0003g0146 a0001c0003t0003g0149 a0001c0003t0003g0182 a0001c0003t0003g0194 a0001c0003t0004g0070 a0001c0003t0004g0084 a0001c0003t0004g0087 a0001c0003t0004g0088 a0001c0003t0004g0096 a0001c0003t0004g0148 a0001c0003t0004g0151 a0001c0003t0004g0152 a0001c0003t0004g0206 a0001c0003t0004g0208 a0001c0003t0004g0215 a0001c0003t0005g0303 a0001c0003t0005g0306 a0001c0003t0005g0308 a0001c0003t0006g0005 a0001c0003t0006g0014 a0001c0003t0006g0016 a0001c0003t0006g0089 a0001c0003t0006g0110 a0001c0003t0006g0157 a0001c0003t0006g0304 a0001c0003t0007g0004 a0001c0003t0007g0078 a0001c0003t0007g0136 a0001c0003t0009g0083 a0001c0003t0009g0235 a0001c0003t0012g0022 a0001c0003t0012g0023 a0001c0003t0012g0027 a0001c0003t0013g0090 a0001c0003t0024g0154 a0001c0003t0026g0244 a0001c0005t0002g0006 a0001c0005t0002g0007 a0001c0005t0002g0185 a0001c0005t0002g0224 a0001c0005t0003g0221 a0001c0005t0003g0243 a0001c0005t0004g0006 a0001c0005t0018g0017 a0001c0006t0005g0043 a0001c0006t0013g0225 a0001c0006t0015g0021 a0001c0006t0015g0212 a0001c0006t0015g0242 a0001c0011t0028g0251 a0001c0012t0001g0042 a0001c0015t0004g0116 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0072 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0119 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0150 a0002c0002t0001g0158 a0002c0002t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0001g0217 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0233 a0002c0002t0001g0236 a0002c0002t0001g0241 a0002c0002t0001g0301 a0002c0002t0003g0035 a0002c0002t0003g0066 a0002c0002t0003g0080 a0002c0002t0003g0120 a0002c0002t0003g0159 a0002c0002t0003g0161 a0002c0002t0003g0173 a0002c0002t0003g0195 a0002c0002t0003g0305 a0002c0002t0003g0309 a0002c0002t0004g0013 a0002c0002t0004g0018 a0002c0002t0004g0019 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0300 a0002c0002t0004g0302 a0002c0002t0005g0310 a0002c0002t0007g0209 a0002c0002t0007g0307 a0002c0002t0009g0081 a0002c0002t0009g0082 a0002c0002t0009g0162 a0002c0002t0009g0200 a0002c0002t0010g0068 a0002c0002t0011g0036 a0002c0002t0011g0126 a0002c0002t0014g0055 a0002c0002t0014g0060 a0002c0002t0014g0106 a0002c0002t0027g0061 a0002c0002t0029g0238 a0002c0004t0002g0216 a0002c0004t0002g0237 a0002c0004t0003g0186 a0002c0004t0004g0165 a0002c0004t0004g0210 a0002c0004t0005g0121 a0002c0004t0005g0211 a0002c0004t0006g0169 a0002c0004t0006g0170 a0002c0004t0007g0137 a0002c0004t0008g0218 a0002c0004t0008g0219 a0002c0004t0011g0213 a0002c0004t0017g0166 a0002c0004t0025g0214 a0002c0008t0004g0181 a0002c0008t0013g0029 a0002c0013t0030g0040 a0002c0014t0004g0240 a0003c0007t0001g0172 a0003c0007t0007g0223 a0003c0007t0022g0038 a0003c0007t0023g0037 a0004c0009t0004g0050 a0004c0009t0004g0051 a0005c0010t0003g0028 a0005c0010t0004g0180 a0006c0020t0005g0103 a0007c0016t0001g0220 a0008c0017t0006g0160 a0009c0018t0001g0197 a0010c0019t0004g0153	259	326	0.7945	31	c.194 others(48): Show c.194-2471_194-2470insGCTCAATCTCAACTCTGCTAGTAAATAA ATA	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	1/18			chr1	TogoVar
DNASE1L1_chrX_154396236_154414254	154396693	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	279	0.0036	31	c.60 others(42): Show c.6013_*6014insATATATATATATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4542		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0074 a0001c0002t0011g0074	1	279	0.0036	31	c.59 others(42): Show c.5994_*5995insAAAAAAATATATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	279	0.0036	31	c.59 others(42): Show c.5994_*5995insAAAAAAAAAAATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(24): Show ATATATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	279	0.0036	31	c.59 others(42): Show c.5994_*5995insAAAAAAAAAAAAAAAAAAATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNM3_chr1_171836498_172417717	172009049	T T	TTATATAA others(24): Show TTATATAATATATTATATGTATTTATATATTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02451.hp1 others(4): Show HG01109.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG03486.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0002t0010 a0001c0002t0021 others(1): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0021 a0001c0008t0026	a0001c0002t0001g0094 a0001c0002t0001g0111 a0001c0002t0001g0135 others(4): Show a0001c0002t0001g0094 a0001c0002t0001g0111 a0001c0002t0001g0135 a0001c0002t0010g0133 a0001c0002t0010g0134 a0001c0002t0021g0077 a0001c0008t0026g0113	7	136	0.0515	31	c.589 others(50): Show c.589+19907_589+19937dupAATATATTATATGTATTTATATATTA TATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172106847	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0122 a0001c0002t0005g0122	1	136	0.0074	31	c.154 others(52): Show c.1545+13996_1545+13997insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172283780	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	136	0.0074	31	c.177 others(52): Show c.1770-24945_1770-24944insAAAAAAAAAAAAAAAAAAAAAAAG AAAGAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304206	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0068 a0001c0002t0005g0068	1	136	0.0074	31	c.177 others(50): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNMBP_chr10_99870577_100014947	99879101	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0131 a0003c0005t0004g0131	1	274	0.0037	31	c.454 others(48): Show c.4548+709_4548+710insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16			chr10	TogoVar
DNPEP_chr2_219367043_219392912	219389848	A A	AAATAAAT others(24): Show AAATAAATAAATAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	370	0.0027	31	c.-20 others(42): Show c.-2055_-2054insATTTATTTATTTATTTATTTATTTATTTATT	DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding		1937		chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	172	0.0058	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATTTTTTTTTTT TTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	172	0.0058	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATATTTTTTTTT TTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	172	0.0058	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATATATATTTTT TTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03688.hp1 HG01257.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0014 a0001c0006t0004 a0001c0004t0014 a0001c0006t0004	a0001c0004t0014g0092 a0001c0006t0004g0014 a0001c0004t0014g0092 a0001c0006t0004g0014	2	172	0.0116	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATATATATATTT TTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	172	0.0058	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATATATATATAT TTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG02622.hp2 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0099 a0002c0002t0001g0062 a0002c0002t0001g0099	2	172	0.0116	31	c.244 others(48): Show c.244-4329_244-4328insATATATATATATATATATATATATATAT ATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK11_chrX_118490815_118691147	118544645	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0110 a0001c0003t0002g0111	2	211	0.0095	31	c.393 others(46): Show c.393-676_393-646dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	4/52		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 5228 hits)