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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
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 a0019 a0047 a0003 a0019 a0047	a0003c0044 a0019c0030 a0047c0051 a0003c0044 a0019c0030 a0047c0051	a0003c0044t0001 a0019c0030t0001 a0047c0051t0001 a0003c0044t0001 a0019c0030t0001 a0047c0051t0001	a0003c0044t0001g0008 a0019c0030t0001g0147 a0047c0051t0001g0258 a0003c0044t0001g0008 a0019c0030t0001g0147 a0047c0051t0001g0258	3	266	0.0113	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	266	0.0038	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	a0031 a0031	a0031c0041 a0031c0041	a0031c0041t0001 a0031c0041t0001	a0031c0041t0001g0032 a0031c0041t0001g0032	1	266	0.0038	26	c.730 others(45): Show c.7305+2049_7305+2050insTATATATATATATATATATATATACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389839	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA21309.hp2 HG01109.hp1 NA21309.hp2	a0004 a0012 a0004 a0012	a0004c0004 a0012c0010 a0004c0004 a0012c0010	a0004c0004t0001 a0012c0010t0002 a0004c0004t0001 a0012c0010t0002	a0004c0004t0001g0089 a0012c0010t0002g0259 a0004c0004t0001g0089 a0012c0010t0002g0259	2	266	0.0075	26	c.730 others(45): Show c.7305+2032_7305+2033insTTATATATATATATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03834.hp2 NA19000.hp1 HG02135.hp1 HG03834.hp2 NA19000.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0005c0005 a0009c0024 a0001c0001 a0005c0005 a0009c0024	a0001c0001t0001 a0005c0005t0001 a0009c0024t0001 a0001c0001t0001 a0005c0005t0001 a0009c0024t0001	a0001c0001t0001g0205 a0005c0005t0001g0194 a0009c0024t0001g0220 a0001c0001t0001g0205 a0005c0005t0001g0194 a0009c0024t0001g0220	3	266	0.0113	26	c.730 others(45): Show c.7305+1447_7305+1448insATATATATATATATATTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	266	0.0038	26	c.730 others(45): Show c.7305+1447_7305+1448insATATATATATATATATATTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	266	0.0038	26	c.730 others(45): Show c.7305+1447_7305+1448insATATATATATATATATATATTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02293.hp2 NA19001.hp2 HG00639.hp2 HG02293.hp2 NA19001.hp2	a0001 a0050 a0055 a0001 a0050 a0055	a0001c0001 a0050c0090 a0055c0084 a0001c0001 a0050c0090 a0055c0084	a0001c0001t0001 a0050c0090t0001 a0055c0084t0001 a0001c0001t0001 a0050c0090t0001 a0055c0084t0001	a0001c0001t0001g0238 a0050c0090t0001g0182 a0055c0084t0001g0189 a0001c0001t0001g0238 a0050c0090t0001g0182 a0055c0084t0001g0189	3	266	0.0113	26	c.730 others(45): Show c.7305+1447_7305+1448insATATATATATATATATATATATTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0078 a0007c0008t0002g0078	1	266	0.0038	26	c.133 others(45): Show c.1335+1673_1335+1674insATATATATATATTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0200 a0005c0005t0001g0200	1	266	0.0038	26	c.133 others(45): Show c.1335+1673_1335+1674insATATATATATATATTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0204 a0001c0026t0001g0204	1	266	0.0038	26	c.133 others(45): Show c.1335+1673_1335+1674insATATATATATATATATTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH14_chr1_224924675_225404286	225034515	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19070.hp2 NA18951.hp2 NA19070.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0050 a0004c0004t0001g0070 a0004c0004t0001g0050 a0004c0004t0001g0070	2	240	0.0083	26	c.135 others(45): Show c.1359-4169_1359-4144dupGTGTGTGTGTGTGTGTGTGTGTGTGT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335373	G G	GTGTGTGC others(19): Show GTGTGTGCACATATACACGTGTGTACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 HG01496.hp2 others(6): Show HG01123.hp1 HG01255.hp1 HG01496.hp2 HG02293.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1	a0002 a0004 a0018 a0002 a0004 a0018	a0002c0003 a0002c0073 a0004c0004 others(1): Show a0002c0003 a0002c0073 a0004c0004 a0018c0017	a0002c0003t0001 a0002c0073t0001 a0004c0004t0001 others(1): Show a0002c0003t0001 a0002c0073t0001 a0004c0004t0001 a0018c0017t0001	a0002c0003t0001g0041 a0002c0003t0001g0048 a0002c0003t0001g0073 others(6): Show a0002c0003t0001g0041 a0002c0003t0001g0048 a0002c0003t0001g0073 a0002c0003t0001g0075 a0002c0003t0001g0084 a0002c0073t0001g0069 a0004c0004t0001g0035 a0004c0004t0001g0039 a0018c0017t0001g0111	9	240	0.0375	26	c.100 others(47): Show c.10080+1872_10080+1873insGCACATATACACGTGTGTACATGT GT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335875	A A	ATGTACAC others(19): Show ATGTACACATATGTACATATACATATG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0042 a0002c0025t0002g0042	1	240	0.0042	26	c.100 others(47): Show c.10081-1390_10081-1389insGTACACATATGTACATATACATAT GT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335875	A A	ATGTACAT others(19): Show ATGTACATATATGTACATACACATATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0111 a0111	a0111c0119 a0111c0119	a0111c0119t0001 a0111c0119t0001	a0111c0119t0001g0240 a0111c0119t0001g0240	1	240	0.0042	26	c.100 others(47): Show c.10081-1390_10081-1389insGTACATATATGTACATACACATAT GT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335888	C C	CATATACA others(19): Show CATATACATATGTACACATATGTACAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0043 a0002c0025t0002g0043	1	240	0.0042	26	c.100 others(47): Show c.10081-1369_10081-1368insTGTACACATATGTACATATATACA TA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225374145	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18991.hp2 NA19004.hp1 HG03225.hp2 NA18991.hp2 NA19004.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0003 a0010c0010 a0001c0001 a0002c0003 a0010c0010	a0001c0001t0001 a0002c0003t0001 a0010c0010t0001 a0001c0001t0001 a0002c0003t0001 a0010c0010t0001	a0001c0001t0001g0159 a0002c0003t0001g0076 a0010c0010t0001g0031 a0001c0001t0001g0159 a0002c0003t0001g0076 a0010c0010t0001g0031	3	240	0.0125	26	c.123 others(45): Show c.12319-530_12319-505dupTATATATATATATATATATATATATA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	77/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78425756	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0149 a0003c0006t0001g0149	1	252	0.0040	26	c.129 others(45): Show c.12916-211_12916-186dupAAAAAAAAAAAAAAAAAAAAAAAAAA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	79/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78484742	C C	CCCCTGCC others(19): Show CCCCTGCCGCCCCCACCGCCCCCACCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0140 a0140	a0140c0225 a0140c0225	a0140c0225t0001 a0140c0225t0001	a0140c0225t0001g0006 a0140c0225t0001g0006	1	252	0.0040	26	c.764 others(43): Show c.7649+125_7649+126insCGGTGGGGGCGGTGGGGGCGGCAGGG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	48/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541240	T T	TGGGGGGG others(19): Show TGGGGGGGGTGAGCGGATGGGTGGGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0063 a0063	a0063c0070 a0063c0070	a0063c0070t0001 a0063c0070t0001	a0063c0070t0001g0019 a0063c0070t0001g0019	1	252	0.0040	26	c.253 others(45): Show c.2533-1361_2533-1360insCACCCACCCATCCGCTCACCCCCCCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78544800	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03486.hp2 HG00735.hp2 HG03486.hp2	a0001 a0099 a0001 a0099	a0001c0105 a0099c0177 a0001c0105 a0099c0177	a0001c0105t0001 a0099c0177t0001 a0001c0105t0001 a0099c0177t0001	a0001c0105t0001g0053 a0099c0177t0001g0245 a0001c0105t0001g0053 a0099c0177t0001g0245	2	252	0.0079	26	c.239 others(43): Show c.2392-804_2392-803insTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	16/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725425	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02735.hp2 HG03225.hp2 others(2): Show HG00733.hp2 HG02735.hp2 HG03225.hp2 HG03710.hp2 NA18906.hp2	a0001 a0002 a0017 others(1): Show a0001 a0002 a0017 a0021	a0001c0044 a0001c0053 a0002c0045 others(2): Show a0001c0044 a0001c0053 a0002c0045 a0017c0024 a0021c0114	a0001c0044t0004 a0001c0053t0001 a0002c0045t0001 others(2): Show a0001c0044t0004 a0001c0053t0001 a0002c0045t0001 a0017c0024t0002 a0021c0114t0003	a0001c0044t0004g0231 a0001c0053t0001g0098 a0002c0045t0001g0225 others(2): Show a0001c0044t0004g0231 a0001c0053t0001g0098 a0002c0045t0001g0225 a0017c0024t0002g0252 a0021c0114t0003g0304	5	316	0.0158	26	c.229 others(43): Show c.229-1681_229-1680insATATATATATATATATATATATATAT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0315 a0001c0006t0002g0315	1	316	0.0032	26	c.229 others(43): Show c.229-1681_229-1680insATATATATATATATATATATATATTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7752160	T T	TACACACA others(19): Show TACACACACTCACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	316	0.0032	26	c.190 others(45): Show c.1905-4923_1905-4922insTCACACACACACACACACACACACAC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	12/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH3_chr16_20928111_21155846	21020346	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0032 a0032	a0032c0054 a0032c0054	a0032c0054t0001 a0032c0054t0001	a0032c0054t0001g0180 a0032c0054t0001g0180	1	234	0.0043	26	c.563 others(43): Show c.5639-478_5639-477insTATATATATATATATATATACACACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01258.hp1 HG02004.hp2 others(7): Show HG00609.hp2 HG01258.hp1 HG02004.hp2 HG02083.hp2 HG02738.hp1 HG03130.hp2 NA18939.hp1 NA19012.hp1 NA19083.hp2 NA19091.hp2	a0001 a0003 a0046 others(1): Show a0001 a0003 a0046 a0055	a0001c0002 a0001c0034 a0003c0005 others(2): Show a0001c0002 a0001c0034 a0003c0005 a0046c0072 a0055c0096	a0001c0002t0001 a0001c0034t0001 a0003c0005t0001 others(2): Show a0001c0002t0001 a0001c0034t0001 a0003c0005t0001 a0046c0072t0001 a0055c0096t0001	a0001c0002t0001g0147 a0001c0002t0001g0158 a0001c0002t0001g0199 others(7): Show a0001c0002t0001g0147 a0001c0002t0001g0158 a0001c0002t0001g0199 a0001c0002t0001g0217 a0001c0034t0001g0057 a0001c0034t0001g0060 a0003c0005t0001g0097 a0003c0005t0001g0098 a0046c0072t0001g0200 a0055c0096t0001g0074	10	234	0.0427	26	c.563 others(43): Show c.5639-480_5639-479insTATATATATATATATATATATACACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0052 a0052	a0052c0076 a0052c0076	a0052c0076t0001 a0052c0076t0001	a0052c0076t0001g0177 a0052c0076t0001g0177	1	234	0.0043	26	c.563 others(43): Show c.5639-480_5639-479insTATATATATATATATATATACACACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020397	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03942.hp1 HG02683.hp2 HG03942.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0095 a0011c0015t0001g0100 a0011c0015t0001g0095 a0011c0015t0001g0100	2	234	0.0086	26	c.563 others(43): Show c.5639-529_5639-528insAAAAAAAAAATATATATATATATATA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21058854	A A	AGAGGGAG others(19): Show AGAGGGAGAACATTAGGACAAATACCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG01169.hp2 others(4): Show HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG02809.hp1 HG03654.hp2 NA18977.hp1	a0008 a0023 a0045 others(1): Show a0008 a0023 a0045 a0050	a0008c0016 a0008c0021 a0023c0039 others(2): Show a0008c0016 a0008c0021 a0023c0039 a0045c0102 a0050c0075	a0008c0016t0001 a0008c0021t0001 a0023c0039t0001 others(2): Show a0008c0016t0001 a0008c0021t0001 a0023c0039t0001 a0045c0102t0001 a0050c0075t0001	a0008c0016t0001g0054 a0008c0016t0001g0055 a0008c0016t0001g0056 others(4): Show a0008c0016t0001g0054 a0008c0016t0001g0055 a0008c0016t0001g0056 a0008c0021t0001g0043 a0023c0039t0001g0091 a0045c0102t0001g0053 a0050c0075t0001g0133	7	234	0.0299	26	c.367 others(43): Show c.3676-684_3676-659dupAGGTATTTGTCCTAATGTTCTCCCTC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	26/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067776	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03491.hp1 NA18964.hp1 others(2): Show HG02074.hp2 HG03491.hp1 NA18964.hp1 NA19068.hp1 NA21309.hp1	a0001 a0002 a0041 others(1): Show a0001 a0002 a0041 a0051	a0001c0001 a0002c0004 a0002c0006 others(2): Show a0001c0001 a0002c0004 a0002c0006 a0041c0099 a0051c0088	a0001c0001t0001 a0002c0004t0001 a0002c0006t0001 others(2): Show a0001c0001t0001 a0002c0004t0001 a0002c0006t0001 a0041c0099t0001 a0051c0088t0001	a0001c0001t0001g0153 a0002c0004t0001g0197 a0002c0006t0001g0065 others(2): Show a0001c0001t0001g0153 a0002c0004t0001g0197 a0002c0006t0001g0065 a0041c0099t0001g0067 a0051c0088t0001g0187	5	234	0.0214	26	c.324 others(43): Show c.3244-383_3244-358dupTCTCTCTCTCTCTCTCTCTCTCTCTC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH5_chr5_13685328_13949688	13713124	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0084 a0084	a0084c0047 a0084c0047	a0084c0047t0004 a0084c0047t0004	a0084c0047t0004g0236 a0084c0047t0004g0236	1	252	0.0040	26	c.131 others(47): Show c.13125+1280_13125+1281insGTGTGTGTATATATATATATATAT AT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	75/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13713438	T T	TATATATA others(19): Show TATATATATATATATATATACATCGAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0059 a0059	a0059c0037 a0059c0037	a0059c0037t0011 a0059c0037t0011	a0059c0037t0011g0006 a0059c0037t0011g0006	1	252	0.0040	26	c.131 others(45): Show c.13125+966_13125+967insGTCGATGTATATATATATATATATAT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	75/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp2 HG01934.hp1 others(6): Show HG01070.hp2 HG01192.hp2 HG01934.hp1 HG02132.hp1 HG02723.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 NA18939.hp2	a0008 a0009 a0013 others(5): Show a0008 a0009 a0013 a0040 a0087 a0098 a0119 a0138	a0008c0026 a0009c0007 a0013c0117 others(5): Show a0008c0026 a0009c0007 a0013c0117 a0040c0155 a0087c0050 a0098c0122 a0119c0149 a0138c0168	a0008c0026t0002 a0009c0007t0002 a0013c0117t0001 others(5): Show a0008c0026t0002 a0009c0007t0002 a0013c0117t0001 a0040c0155t0009 a0087c0050t0008 a0098c0122t0001 a0119c0149t0022 a0138c0168t0024	a0008c0026t0002g0036 a0008c0026t0002g0053 a0009c0007t0002g0180 others(6): Show a0008c0026t0002g0036 a0008c0026t0002g0053 a0009c0007t0002g0180 a0013c0117t0001g0105 a0040c0155t0009g0204 a0087c0050t0008g0099 a0098c0122t0001g0092 a0119c0149t0022g0232 a0138c0168t0024g0234	9	252	0.0357	26	c.527 others(43): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCTCTCTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH7_chr2_195732703_196073837	195766167	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01891.hp2 NA18948.hp1 others(2): Show HG00280.hp1 HG01891.hp2 NA18948.hp1 NA18960.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0186 others(2): Show a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0217	5	256	0.0195	26	c.114 others(47): Show c.11433+5492_11433+5493insAAAAAAAAAAAAAAAAAAAAAAAA AA	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	61/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195778677	C C	CACACATA others(19): Show CACACATATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01069.hp1 others(13): Show HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01168.hp2 HG01169.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02647.hp1 HG02897.hp2 HG02970.hp2 HG03540.hp2 HG03831.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0006 a0007 a0017 others(3): Show a0006 a0007 a0017 a0018 a0034 a0037	a0006c0005 a0007c0008 a0017c0019 others(3): Show a0006c0005 a0007c0008 a0017c0019 a0018c0018 a0034c0039 a0037c0036	a0006c0005t0001 a0007c0008t0001 a0017c0019t0001 others(3): Show a0006c0005t0001 a0007c0008t0001 a0017c0019t0001 a0018c0018t0001 a0034c0039t0001 a0037c0036t0001	a0006c0005t0001g0004 a0006c0005t0001g0005 a0006c0005t0001g0006 others(13): Show a0006c0005t0001g0004 a0006c0005t0001g0005 a0006c0005t0001g0006 a0006c0005t0001g0007 a0006c0005t0001g0011 a0006c0005t0001g0013 a0006c0005t0001g0014 a0007c0008t0001g0110 a0007c0008t0001g0114 a0007c0008t0001g0115 a0017c0019t0001g0088 a0017c0019t0001g0089 a0017c0019t0001g0091 a0018c0018t0001g0030 a0034c0039t0001g0012 a0037c0036t0001g0087	16	256	0.0625	26	c.108 others(45): Show c.10879-718_10879-693dupATATATATATGTGTATATATATGTGT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	58/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195847129	T T	TATCTTAT others(19): Show TATCTTATATATATATCAGATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02896.hp1 others(3): Show HG02258.hp2 HG02451.hp1 HG02896.hp1 HG02976.hp1 HG03139.hp2 NA19240.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0241 a0005c0007t0006g0243 a0005c0007t0006g0253 others(3): Show a0005c0007t0006g0241 a0005c0007t0006g0243 a0005c0007t0006g0253 a0005c0007t0006g0254 a0005c0007t0006g0255 a0005c0007t0006g0256	6	256	0.0234	26	c.878 others(45): Show c.8782-1990_8782-1965dupGTATATATCTGATATATATATAAGAT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	46/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195976747	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG04115.hp1 NA18960.hp2 others(1): Show HG00642.hp1 HG04115.hp1 NA18960.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0182 a0001c0001t0002g0195 a0001c0001t0002g0225 others(1): Show a0001c0001t0002g0182 a0001c0001t0002g0195 a0001c0001t0002g0225 a0001c0001t0004g0184	4	256	0.0156	26	c.183 others(45): Show c.1834-4307_1834-4282dupCTCTCTCTCTCTCTCTCTCTCTCTCT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	15/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195976782	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	256	0.0039	26	c.183 others(45): Show c.1834-4317_1834-4316insCCTCTCTCTCTCTCTCTCTCTCTCTC	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	15/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195990970	C C	CATATATA others(19): Show CATATATATACTTAAATATATATACAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0035 a0035	a0035c0058 a0035c0058	a0035c0058t0003 a0035c0058t0003	a0035c0058t0003g0131 a0035c0058t0003g0131	1	256	0.0039	26	c.135 others(45): Show c.1354-2742_1354-2741insATGTATATATATTTAAGTATATATAT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	12/64			chr2	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATTT others(19): Show ATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19240.hp1 HG01361.hp1 NA19240.hp1	a0001 a0012 a0001 a0012	a0001c0007 a0012c0016 a0001c0007 a0012c0016	a0001c0007t0001 a0012c0016t0001 a0001c0007t0001 a0012c0016t0001	a0001c0007t0001g0176 a0012c0016t0001g0233 a0001c0007t0001g0176 a0012c0016t0001g0233	2	284	0.0070	26	c.-35 others(41): Show c.-35+546_-35+547insATATTTTTTTTTTTTTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0018 a0007c0023t0001g0018	1	178	0.0056	26	c.950 others(45): Show c.9507+8966_9507+8967insGTGTGTATATATATATATATATATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01257.hp1 HG01258.hp1 others(9): Show HG00597.hp1 HG01257.hp1 HG01258.hp1 HG01928.hp2 HG01978.hp2 HG02080.hp1 HG02257.hp2 HG02559.hp1 HG02886.hp2 HG03492.hp2 HG04115.hp2 NA19056.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0006 a0007 a0009 a0028 a0051 a0077	a0001c0003 a0002c0015 a0004c0043 others(7): Show a0001c0003 a0002c0015 a0004c0043 a0004c0072 a0006c0046 a0007c0016 a0009c0025 a0028c0038 a0051c0019 a0077c0144	a0001c0003t0001 a0002c0015t0001 a0004c0043t0001 others(7): Show a0001c0003t0001 a0002c0015t0001 a0004c0043t0001 a0004c0072t0001 a0006c0046t0001 a0007c0016t0001 a0009c0025t0002 a0028c0038t0001 a0051c0019t0001 a0077c0144t0001	a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0174 others(9): Show a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0174 a0002c0015t0001g0055 a0004c0043t0001g0140 a0004c0072t0001g0093 a0006c0046t0001g0037 a0007c0016t0001g0172 a0009c0025t0002g0019 a0028c0038t0001g0072 a0051c0019t0001g0001 a0077c0144t0001g0065	12	178	0.0674	26	c.950 others(45): Show c.9507+8966_9507+8967insGTGTGTGTGTATATATATATATATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18986.hp2 HG02055.hp1 NA18986.hp2	a0007 a0056 a0007 a0056	a0007c0062 a0056c0075 a0007c0062 a0056c0075	a0007c0062t0001 a0056c0075t0001 a0007c0062t0001 a0056c0075t0001	a0007c0062t0001g0117 a0056c0075t0001g0146 a0007c0062t0001g0117 a0056c0075t0001g0146	2	178	0.0112	26	c.950 others(45): Show c.9507+8966_9507+8967insGTGTGTGTGTGTATATATATATATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11926035	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0127 a0001c0127	a0001c0127t0001 a0001c0127t0001	a0001c0127t0001g0052 a0001c0127t0001g0052	1	178	0.0056	26	c.118 others(47): Show c.11877+2096_11877+2121dupAAAAAAAAAAAAAAAAAAAAAAAA AA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	62/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11960435	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG04115.hp2 NA19030.hp1 others(2): Show HG01978.hp1 HG04115.hp2 NA19030.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0002 a0002c0010 a0002c0015 others(2): Show a0001c0002 a0002c0010 a0002c0015 a0003c0007 a0008c0034	a0001c0002t0001 a0002c0010t0001 a0002c0015t0001 others(2): Show a0001c0002t0001 a0002c0010t0001 a0002c0015t0001 a0003c0007t0001 a0008c0034t0001	a0001c0002t0001g0023 a0002c0010t0001g0024 a0002c0015t0001g0055 others(2): Show a0001c0002t0001g0023 a0002c0010t0001g0024 a0002c0015t0001g0055 a0003c0007t0001g0151 a0008c0034t0001g0069	5	178	0.0281	26	c.128 others(47): Show c.12844-1430_12844-1405dupAAAAAAAAAAAAAAAAAAAAAAAA AA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	67/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI1_chr9_34453805_34525984	34492493	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18999.hp2 HG02523.hp2 NA18999.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0211 a0003c0003t0002g0216 a0003c0003t0002g0211 a0003c0003t0002g0216	2	382	0.0052	26	c.682 others(41): Show c.682-684_682-659dupATATATATATATATATATATATATAT	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAI4_chr1_66807885_66929856	66893055	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	264	0.0038	26	c.530 others(41): Show c.530+173_530+174insTTCTTTCTTTCTTTCTTTCTTTCTTT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	3/16			chr1	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18747.hp1 NA19060.hp2 others(1): Show HG02559.hp2 NA18747.hp1 NA19060.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0104 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0104 a0001c0001t0001g0134 a0001c0001t0001g0148	4	336	0.0119	26	c.124 others(45): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAJA1_chr9_33020273_33044907	33039536	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00738.hp1 others(6): Show HG00280.hp1 HG00423.hp2 HG00738.hp1 HG03130.hp1 HG03195.hp2 NA18972.hp1 NA18980.hp2 NA18998.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0005t0005 a0001c0001t0005 a0001c0005t0005	a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0001t0005g0030 others(5): Show a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0061 a0001c0001t0005g0082 a0001c0001t0005g0110 a0001c0005t0005g0114	9	444	0.0203	26	c.64 others(35): Show c.644_*645insTATATATATATATATATATATATATA	DNAJA1	ENSG00000086061.16	transcript	ENST00000330899.5	protein_coding	9/9	645	INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJB11_chr3_186565720_186590793	186584602	A A	ATTGTGTG others(19): Show ATTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	370	0.0027	26	c.101 others(41): Show c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGTGT	DNAJB11	ENSG00000090520.12	transcript	ENST00000265028.8	protein_coding	9/9			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)