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 (≤).

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⚠️ 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	57389822	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0107 a0004c0004t0001g0107	1	266	0.0038	32	c.730 others(51): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA CACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0066 a0066	a0066c0060 a0066c0060	a0066c0060t0001 a0066c0060t0001	a0066c0060t0001g0245 a0066c0060t0001g0245	1	266	0.0038	32	c.730 others(51): Show c.7305+2049_7305+2050insTATATATATATATATATACACACACA CACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389839	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03927.hp2 HG04199.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp1	a0015 a0071 a0072 a0015 a0071 a0072	a0015c0013 a0071c0066 a0072c0067 a0015c0013 a0071c0066 a0072c0067	a0015c0013t0001 a0071c0066t0001 a0072c0067t0001 a0015c0013t0001 a0071c0066t0001 a0072c0067t0001	a0015c0013t0001g0101 a0071c0066t0001g0095 a0072c0067t0001g0091 a0015c0013t0001g0101 a0071c0066t0001g0095 a0072c0067t0001g0091	3	266	0.0113	32	c.730 others(51): Show c.7305+2032_7305+2033insTTATATATATATATATATATATATAT ATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	266	0.0038	32	c.730 others(51): Show c.7305+1447_7305+1448insATATATATATATATATATTTTTTTTT TTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01255.hp2 HG01169.hp1 HG01255.hp2	a0001 a0054 a0001 a0054	a0001c0001 a0054c0094 a0001c0001 a0054c0094	a0001c0001t0001 a0054c0094t0003 a0001c0001t0001 a0054c0094t0003	a0001c0001t0001g0215 a0054c0094t0003g0002 a0001c0001t0001g0215 a0054c0094t0003g0002	2	266	0.0075	32	c.730 others(51): Show c.7305+1447_7305+1448insATATATATATATATATATATTTTTTT TTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	266	0.0038	32	c.730 others(51): Show c.7305+1447_7305+1448insATATATATATATATATATATATTTTT TTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0038 a0038	a0038c0040 a0038c0040	a0038c0040t0001 a0038c0040t0001	a0038c0040t0001g0014 a0038c0040t0001g0014	1	266	0.0038	32	c.730 others(51): Show c.7305+1447_7305+1448insATATATATATATATATATATATATTT TTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0086 a0001c0086	a0001c0086t0001 a0001c0086t0001	a0001c0086t0001g0249 a0001c0086t0001g0249	1	266	0.0038	32	c.730 others(51): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT TTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0083 a0007c0008t0002g0083	1	266	0.0038	32	c.133 others(51): Show c.1335+1673_1335+1674insATATATATATATATATTTTTTTTTTT TTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03139.hp2 HG01243.hp1 HG03139.hp2	a0019 a0042 a0019 a0042	a0019c0030 a0042c0033 a0019c0030 a0042c0033	a0019c0030t0001 a0042c0033t0001 a0019c0030t0001 a0042c0033t0001	a0019c0030t0001g0147 a0042c0033t0001g0009 a0019c0030t0001g0147 a0042c0033t0001g0009	2	266	0.0075	32	c.133 others(51): Show c.1335+1673_1335+1674insATATATATATATATATATTTTTTTTT TTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH14_chr1_224924675_225404286	225335611	G G	GTGTATAT others(25): Show GTGTATATACGCATATATACATATGTGCATATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18999.hp2 NA19003.hp2 NA18747.hp1 NA18999.hp2 NA19003.hp2	a0003 a0016 a0003 a0016	a0003c0002 a0016c0018 a0003c0002 a0016c0018	a0003c0002t0001 a0016c0018t0001 a0003c0002t0001 a0016c0018t0001	a0003c0002t0001g0113 a0003c0002t0001g0197 a0016c0018t0001g0183 a0003c0002t0001g0113 a0003c0002t0001g0197 a0016c0018t0001g0183	3	240	0.0125	32	c.100 others(53): Show c.10081-1536_10081-1505dupTGTGCATATATGTATATACGCATA TATACATA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335749	G G	GCATATAT others(25): Show GCATATATACATATGTGCATATATGTATATACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03492.hp1 HG02896.hp2 HG03492.hp1	a0003 a0106 a0003 a0106	a0003c0002 a0106c0085 a0003c0002 a0106c0085	a0003c0002t0001 a0106c0085t0001 a0003c0002t0001 a0106c0085t0001	a0003c0002t0001g0178 a0106c0085t0001g0211 a0003c0002t0001g0178 a0106c0085t0001g0211	2	240	0.0083	32	c.100 others(53): Show c.10081-1505_10081-1504insTGTGCATATATGTATATACACATA TATACATA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78425756	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0091 a0091	a0091c0214 a0091c0214	a0091c0214t0001 a0091c0214t0001	a0091c0214t0001g0137 a0091c0214t0001g0137	1	252	0.0040	32	c.129 others(51): Show c.12916-186_12916-185insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	79/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78540447	A A	ATGGATGG others(25): Show ATGGATGGATGGATGGATGGGTGGGTGGATGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00621.hp1 others(44): Show HG00323.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01192.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02723.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03704.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18945.hp2 NA18959.hp2 NA18970.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA19043.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0005 a0010 a0013 a0018 a0021 a0022 a0024 a0026 a0028 a0040 a0042 a0071 a0082 a0083 a0087 a0089 a0090 a0091 a0092 a0095 a0096 a0099 a0100 a0107 a0140	a0001c0105 a0001c0138 a0002c0003 others(39): Show a0001c0105 a0001c0138 a0002c0003 a0002c0038 a0002c0089 a0002c0094 a0002c0161 a0002c0178 a0002c0230 a0003c0006 a0003c0085 a0004c0011 a0004c0079 a0004c0176 a0005c0186 a0010c0091 a0010c0213 a0013c0012 a0018c0039 a0018c0102 a0021c0033 a0022c0022 a0022c0023 a0024c0018 a0026c0019 a0028c0200 a0040c0187 a0042c0123 a0071c0216 a0082c0174 a0083c0078 a0087c0229 a0089c0086 a0090c0095 a0091c0214 a0092c0092 a0095c0088 a0096c0180 a0099c0177 a0100c0084 a0107c0082 a0140c0225	a0001c0105t0001 a0001c0138t0001 a0002c0003t0001 others(39): Show a0001c0105t0001 a0001c0138t0001 a0002c0003t0001 a0002c0038t0001 a0002c0089t0001 a0002c0094t0001 a0002c0161t0003 a0002c0178t0001 a0002c0230t0001 a0003c0006t0001 a0003c0085t0001 a0004c0011t0001 a0004c0079t0001 a0004c0176t0001 a0005c0186t0001 a0010c0091t0005 a0010c0213t0001 a0013c0012t0002 a0018c0039t0001 a0018c0102t0001 a0021c0033t0001 a0022c0022t0001 a0022c0023t0001 a0024c0018t0001 a0026c0019t0001 a0028c0200t0001 a0040c0187t0002 a0042c0123t0001 a0071c0216t0001 a0082c0174t0002 a0083c0078t0001 a0087c0229t0002 a0089c0086t0001 a0090c0095t0001 a0091c0214t0001 a0092c0092t0001 a0095c0088t0002 a0096c0180t0001 a0099c0177t0001 a0100c0084t0001 a0107c0082t0002 a0140c0225t0001	a0001c0105t0001g0053 a0001c0138t0001g0226 a0002c0003t0001g0044 others(44): Show a0001c0105t0001g0053 a0001c0138t0001g0226 a0002c0003t0001g0044 a0002c0003t0001g0174 a0002c0003t0001g0221 a0002c0038t0001g0213 a0002c0089t0001g0037 a0002c0094t0001g0173 a0002c0161t0003g0246 a0002c0178t0001g0150 a0002c0230t0001g0187 a0003c0006t0001g0148 a0003c0006t0001g0149 a0003c0085t0001g0022 a0004c0011t0001g0027 a0004c0011t0001g0028 a0004c0079t0001g0052 a0004c0176t0001g0026 a0005c0186t0001g0086 a0010c0091t0005g0003 a0010c0213t0001g0138 a0013c0012t0002g0222 a0013c0012t0002g0223 a0018c0039t0001g0212 a0018c0102t0001g0196 a0021c0033t0001g0195 a0022c0022t0001g0013 a0022c0023t0001g0023 a0024c0018t0001g0012 a0026c0019t0001g0127 a0028c0200t0001g0046 a0040c0187t0002g0168 a0042c0123t0001g0224 a0071c0216t0001g0124 a0082c0174t0002g0153 a0083c0078t0001g0067 a0087c0229t0002g0008 a0089c0086t0001g0238 a0090c0095t0001g0084 a0091c0214t0001g0137 a0092c0092t0001g0134 a0095c0088t0002g0099 a0096c0180t0001g0230 a0099c0177t0001g0245 a0100c0084t0001g0177 a0107c0082t0002g0038 a0140c0225t0001g0006	47	252	0.1865	32	c.253 others(49): Show c.2533-568_2533-567insCCCATCCACCCACCCATCCATCCATCCA TCCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78574164	G G	GGCGCACG others(25): Show GGCGCACGCAAGCACACGACCATGAAGACTCGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0145 a0145	a0145c0027 a0145c0027	a0145c0027t0001 a0145c0027t0001	a0145c0027t0001g0031 a0145c0027t0001g0031	1	252	0.0040	32	c.345 others(47): Show c.345+548_345+549insACGAGTCTTCATGGTCGTGTGCTTGCGTGC GC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	2/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725425	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0001 a0003c0033t0001	a0003c0033t0001g0165 a0003c0033t0001g0165	1	316	0.0032	32	c.229 others(49): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT ATAT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7741295	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0026 a0026	a0026c0110 a0026c0110	a0026c0110t0003 a0026c0110t0003	a0026c0110t0003g0284 a0026c0110t0003g0284	1	316	0.0032	32	c.168 others(49): Show c.1689+304_1689+305insTCTTTCTTTCTTTCTTTCTTTCTTCCCT CCCT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7741323	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp1 HG03209.hp2 others(1): Show HG03041.hp2 HG03209.hp1 HG03209.hp2 HG06807.hp1	a0001 a0015 a0065 a0001 a0015 a0065	a0001c0005 a0015c0013 a0065c0066 a0001c0005 a0015c0013 a0065c0066	a0001c0005t0002 a0015c0013t0001 a0065c0066t0001 a0001c0005t0002 a0015c0013t0001 a0065c0066t0001	a0001c0005t0002g0077 a0015c0013t0001g0088 a0015c0013t0001g0152 others(1): Show a0001c0005t0002g0077 a0015c0013t0001g0088 a0015c0013t0001g0152 a0065c0066t0001g0162	4	316	0.0127	32	c.168 others(49): Show c.1689+334_1689+335insCTCCCTCCCTCCCTCCTTCCTTCCTTCC TTCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH3_chr16_20928111_21155846	20936913	C C	CTGAGACT others(25): Show CTGAGACTGCTGTCCACATGCTGTCCCCTTAGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	234	0.0043	32	c.115 others(49): Show c.11517-61_11517-60insTCTAAGGGGACAGCATGTGGACAGCAGT CTCA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	59/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG04184.hp2 NA18948.hp1 others(1): Show HG02630.hp2 HG04184.hp2 NA18948.hp1 NA18948.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0011 a0002c0004 others(1): Show a0001c0002 a0001c0011 a0002c0004 a0008c0021	a0001c0002t0001 a0001c0011t0002 a0002c0004t0001 others(1): Show a0001c0002t0001 a0001c0011t0002 a0002c0004t0001 a0008c0021t0001	a0001c0002t0001g0155 a0001c0011t0002g0013 a0002c0004t0001g0166 others(1): Show a0001c0002t0001g0155 a0001c0011t0002g0013 a0002c0004t0001g0166 a0008c0021t0001g0148	4	234	0.0171	32	c.563 others(49): Show c.5639-480_5639-479insTATATATATATATATATATATATATATA CACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02074.hp2 NA19002.hp2 HG01257.hp2 HG02074.hp2 NA19002.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0001 a0002c0006t0001 a0002c0004t0001 a0002c0006t0001	a0002c0004t0001g0174 a0002c0004t0001g0197 a0002c0006t0001g0069 a0002c0004t0001g0174 a0002c0004t0001g0197 a0002c0006t0001g0069	3	234	0.0128	32	c.563 others(49): Show c.5639-480_5639-479insTATATATATATATATATATATATATACA CACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067776	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0022 a0002c0004t0001g0022	1	234	0.0043	32	c.324 others(49): Show c.3244-358_3244-357insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH5_chr5_13685328_13949688	13778539	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02523.hp2 HG01074.hp1 HG02523.hp2	a0003 a0007 a0003 a0007	a0003c0075 a0007c0070 a0003c0075 a0007c0070	a0003c0075t0002 a0007c0070t0003 a0003c0075t0002 a0007c0070t0003	a0003c0075t0002g0045 a0007c0070t0003g0237 a0003c0075t0002g0045 a0007c0070t0003g0237	2	252	0.0079	32	c.895 others(51): Show c.8952-1216_8952-1185dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	53/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13842429	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0059 a0059	a0059c0037 a0059c0037	a0059c0037t0011 a0059c0037t0011	a0059c0037t0011g0006 a0059c0037t0011g0006	1	252	0.0040	32	c.527 others(49): Show c.5272-526_5272-525insCTCTCTCTCTCTCTCTCTCTTTCTTTCT TTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13842429	A A	AAGAAAGA others(25): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0036 a0036	a0036c0030 a0036c0030	a0036c0030t0002 a0036c0030t0002	a0036c0030t0002g0136 a0036c0030t0002g0137 a0036c0030t0002g0136 a0036c0030t0002g0137	2	252	0.0079	32	c.527 others(49): Show c.5272-526_5272-525insCTCTCTCTCTCTCTCTCTCTCTCTCTCT TTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0027 a0027	a0027c0148 a0027c0148	a0027c0148t0001 a0027c0148t0001	a0027c0148t0001g0189 a0027c0148t0001g0189	1	252	0.0040	32	c.527 others(49): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCTCTCTTTCT TTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AAGAAAGA others(25): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0025 a0025	a0025c0067 a0025c0067	a0025c0067t0009 a0025c0067t0009	a0025c0067t0009g0155 a0025c0067t0009g0155	1	252	0.0040	32	c.527 others(49): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCTCTCTCTCT TTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AAGAGAGA others(25): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0019 a0019	a0019c0018 a0019c0018	a0019c0018t0002 a0019c0018t0002	a0019c0018t0002g0085 a0019c0018t0002g0085	1	252	0.0040	32	c.527 others(49): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH7_chr2_195732703_196073837	195766167	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0045 a0008c0009t0002g0045	1	256	0.0039	32	c.114 others(53): Show c.11433+5492_11433+5493insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	61/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195976747	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0001 a0017c0019t0001	a0017c0019t0001g0089 a0017c0019t0001g0089	1	256	0.0039	32	c.183 others(51): Show c.1834-4313_1834-4282dupCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	15/64			chr2	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0015 a0015	a0015c0136 a0015c0136	a0015c0136t0001 a0015c0136t0001	a0015c0136t0001g0125 a0015c0136t0001g0125	1	178	0.0056	32	c.950 others(51): Show c.9507+8966_9507+8967insGTGTGTGTGTGTATATATATATATAT ATATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI1_chr9_34453805_34525984	34492493	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	382	0.0026	32	c.682 others(47): Show c.682-690_682-659dupATATATATATATATATATATATATATATAT AT	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAI2_chr17_74269234_74319884	74296320	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0269 a0002c0006t0003g0269	1	398	0.0025	32	c.725 others(49): Show c.725-3385_725-3384insAGGAGAGAGAGAGAGAGAGGAGAGAGAG AGAG	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301874	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0372 a0001c0001t0002g0372	1	398	0.0025	32	c.987 others(47): Show c.987+737_987+738insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI4_chr1_66807885_66929856	66836140	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	264	0.0038	32	c.158 others(49): Show c.1582-395_1582-364dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	10/16			chr1	TogoVar
DNAI4_chr1_66807885_66929856	66893071	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	264	0.0038	32	c.530 others(47): Show c.530+157_530+158insCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	3/16			chr1	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG03834.hp2 HG00323.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0193 a0002c0002t0001g0196	2	336	0.0060	32	c.189 others(45): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02004.hp2 HG02135.hp1 others(6): Show HG00423.hp1 HG02004.hp2 HG02135.hp1 HG02300.hp2 NA18955.hp2 NA18964.hp2 NA18981.hp1 NA18999.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0089 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0191 a0001c0005t0001g0144	9	336	0.0268	32	c.124 others(51): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAJA1_chr9_33020273_33044907	33039536	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG01167.hp2 NA18950.hp2 others(1): Show HG00099.hp2 HG01167.hp2 NA18950.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0007 a0001c0001t0017g0010 a0001c0001t0017g0033 others(1): Show a0001c0001t0017g0007 a0001c0001t0017g0010 a0001c0001t0017g0033 a0001c0001t0017g0069	4	444	0.0090	32	c.64 others(41): Show c.644_*645insTATATATATATATATATATATATATATATATA	DNAJA1	ENSG00000086061.16	transcript	ENST00000330899.5	protein_coding	9/9	645	INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC11_chr1_6629170_6706816	6706343	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	366	0.0027	32	c.-45 others(43): Show c.-4544_-4543insGTATGTATATATATATATATATATATATATAT	DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding		4528		chr1	TogoVar
DNAJC12_chr10_67791669_67843188	67819660	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	384	0.0026	32	c.157 others(49): Show c.157+3622_157+3653dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC13_chr3_132412502_132544032	132487559	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA20300.hp2 HG02559.hp1 NA20300.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0292 a0004c0005t0001g0293 a0004c0005t0001g0292 a0004c0005t0001g0293	2	318	0.0063	32	c.326 others(49): Show c.3268-719_3268-718insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC14_chr12_55815985_55834587	55829676	A A	ATAGCGGT others(25): Show ATAGCGGTTGGCTGAGAGGCAAGCCAATCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	426	0.0024	32	c.-27 others(41): Show c.-276_-245dupGCTGGATTGGCTTGCCTCTCAGCCAACCGCTA	DNAJC14	ENSG00000135392.19	transcript	ENST00000678005.2	protein_coding		90		chr12	TogoVar
DNAJC16_chr1_15521848_15576733	15544151	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01261.hp2 others(4): Show HG00639.hp2 HG00733.hp1 HG01261.hp2 HG01981.hp1 HG03710.hp2 NA19066.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0143 a0001c0002t0003g0159 others(4): Show a0001c0002t0003g0127 a0001c0002t0003g0143 a0001c0002t0003g0159 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164	7	356	0.0197	32	c.575 others(47): Show c.575-244_575-213dupCACACACACACACACACACACACACACACA CA	DNAJC16	ENSG00000116138.13	transcript	ENST00000375847.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC1_chr10_21751548_22008730	21813220	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	164	0.0061	32	c.979 others(49): Show c.979-7122_979-7121insTATATATATATATATAGAGAGAGAGAGA GAGA	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11			chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21813220	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	164	0.0061	32	c.979 others(49): Show c.979-7122_979-7121insTATATATATATATAGAGAGAGAGAGAGA GAGA	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11			chr10	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(25): Show GTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0348 a0001c0001t0005g0348	1	374	0.0027	32	c.83- others(47): Show c.83-4367_83-4366insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19030.hp2 NA18747.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0142 a0001c0001t0016g0194 a0001c0001t0003g0142 a0001c0001t0016g0194	2	374	0.0054	32	c.83- others(47): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237085	A A	AAGAGAGA others(25): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	338	0.0030	32	c.29 others(43): Show c.2901_*2902insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2805		chr11	TogoVar
DNAJC6_chr1_65304543_65420871	65417065	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01074.hp2 others(13): Show HG00558.hp2 HG00621.hp2 HG01074.hp2 HG01255.hp2 HG02074.hp2 HG02135.hp2 HG02683.hp2 HG03490.hp1 HG03492.hp1 NA18906.hp2 NA18956.hp1 NA18959.hp2 NA18993.hp2 NA18995.hp2 NA19030.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 a0001c0006t0013 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009	a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0003g0187 others(13): Show a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0003g0187 a0001c0001t0003g0234 a0001c0001t0003g0273 a0001c0003t0001g0002 a0001c0003t0001g0015 a0001c0003t0003g0140 a0001c0006t0013g0225 a0002c0002t0001g0041 a0002c0002t0001g0064 a0002c0002t0001g0171 a0002c0002t0001g0177 a0002c0002t0001g0229 a0002c0002t0003g0195 a0002c0002t0009g0200	16	326	0.0491	32	c.40 others(43): Show c.4040_*4041insATATATATATATATATATATATATATATATAT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding		1195		chr1	TogoVar

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