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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ZNF486_chr19_20162214_20205488	20165762	CGGTTAAT others(159): Show CGGTTAATAACAAACTCTGCTGAGCTAAAGAAACATGTTTGAACCCAATT TGAAGAAGCTAAGAACCTTGATAAAAGGTTAGAGGAACTGCTAACTAGAA TAACCAGTTTGGAGAGGAACATAAGAGGATGAGATGCATGAATTCACAGA AGTAGGCCTCAGAAGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0304 a0001c0002t0003g0304	1	382	0.0026	-166	c.-15 others(11): Show c.-1568_-1403del		ZNF486	ENSG00000256229.8	transcript	ENST00000335117.9	protein_coding					1451		chr19	TogoVar
ZNF511_chr10_133303914_133318161	133317780	CCCCAGAC others(159): Show CCCCAGACACAGAGATGGAAAGACCACACACCCCCCCCCCCCCAGACACA GAGATGGAAAGACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCAC ACCCCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACA GAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	282	0.0036	-166	c.49 others(11): Show c.4915_*5080del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4620		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393117	GGGCAGGT others(159): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01952.hp1 HG03942.hp1 HG01070.hp1 HG01952.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0107 a0001c0002t0001 a0001c0001t0003 a0001c0001t0107 a0001c0002t0001	a0001c0001t0003g0031 a0001c0001t0107g0152 a0001c0002t0001g0164 a0001c0001t0003g0031 a0001c0001t0107g0152 a0001c0002t0001g0164	3	346	0.0087	-166	c.181 others(21): Show c.1811-12980_1811-12815del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393373	GAGGGCAG others(159): Show GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0093 a0002c0022t0093	a0002c0022t0093g0069 a0002c0022t0093g0069	1	346	0.0029	-166	c.181 others(21): Show c.1811-13236_1811-13071del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393419	GAAGGCAG others(159): Show GAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19043.hp1 HG00735.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0028 a0001c0001t0002 a0001c0006t0028	a0001c0001t0002g0096 a0001c0006t0028g0292 a0001c0001t0002g0096 a0001c0006t0028g0292	2	346	0.0058	-166	c.181 others(21): Show c.1811-13282_1811-13117del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393425	AGGTGGTC others(159): Show AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01928.hp2 HG01993.hp2 others(2): Show HG01123.hp1 HG01928.hp2 HG01993.hp2 HG02273.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0039 a0001c0001t0168 others(2): Show a0001c0001t0001 a0001c0001t0039 a0001c0001t0168 a0001c0002t0163 a0001c0002t0167	a0001c0001t0001g0086 a0001c0001t0039g0085 a0001c0001t0168g0087 others(2): Show a0001c0001t0001g0086 a0001c0001t0039g0085 a0001c0001t0168g0087 a0001c0002t0163g0080 a0001c0002t0167g0091	5	346	0.0145	-166	c.181 others(21): Show c.1811-13288_1811-13123del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394090	CGGGAAGG others(159): Show CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0069 a0018c0023t0069	a0018c0023t0069g0101 a0018c0023t0069g0101	1	346	0.0029	-166	c.181 others(21): Show c.1811-13953_1811-13788del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394122	GGGTGGTC others(159): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0101 a0002c0054t0101	a0002c0054t0101g0100 a0002c0054t0101g0100	1	346	0.0029	-166	c.181 others(21): Show c.1811-13985_1811-13820del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF609_chr15_64455578_64691068	64577336	CATATATA others(159): Show CATATATATGTATATATATACACATATATGTATATATATACACATATAAA TATATACACATATATGTATATATATACACATATAAATATATACACATATA TGTATATATATACACATATAAATATATACATATATATGTATATATATACA CATATAAATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01109.hp2 others(18): Show HG00140.hp1 HG01069.hp1 HG01109.hp2 HG01261.hp2 HG01515.hp1 HG01891.hp1 HG02055.hp1 HG02129.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG03490.hp2 HG04199.hp1 NA18963.hp1 NA19043.hp2 NA19054.hp2 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 others(18): Show a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0003t0001g0024 a0001c0003t0001g0028 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0044 a0001c0003t0001g0051 a0001c0003t0001g0055 a0001c0003t0001g0065 a0001c0003t0001g0066	21	176	0.1193	-166	c.748 others(19): Show c.748-45484_748-45319del		ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF667_chr19_56434329_56482345	56444439	ATGAGAAA others(159): Show ATGAGAAACCCACCCCCATGATCCAATCACCTCCCACAGACCCCACCTCC AACACTGAGGATGAAATTTCAACATGAGATTTGGTGAGAAATCCACCCCC ATGATCCAATCACCTCCCACCAGACCCCACCTCCAACACTGAGGATTAAT TTCAACATGAGATTTGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18906.hp2 HG02572.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0134 a0001c0001t0028g0185 a0001c0001t0001g0134 a0001c0001t0028g0185	2	362	0.0055	-166	c.254 others(17): Show c.254-1864_254-1699del		ZNF667	ENSG00000198046.13	transcript	ENST00000504904.8	protein_coding	6/6						chr19	TogoVar
ZNF667_chr19_56434329_56482345	56444667	GAAATTTC others(159): Show GAAATTTCAACATGAGATTTGGTGAGAAATCCACCCCCATGATCCAATCA CCTCCCACAGACCCCACCTCCAACACTGAGGATTAAATTTCAACATGAGA TTTGGTGAGAAATCCACCCCCATGATCCAATCACCTCCCACAGACCCCAC CTCCAACACTGAGGATT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02280.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0110 a0001c0002t0001g0111	2	362	0.0055	-166	c.254 others(17): Show c.254-2092_254-1927del		ZNF667	ENSG00000198046.13	transcript	ENST00000504904.8	protein_coding	6/6						chr19	TogoVar
ZNF732_chr4_265675_310474	270821	TAAAAGCT others(159): Show TAAAAGCTTTGCCACATTCTTCACATTTGTAGGGTTGCTCTCCAGCATCA ATTTTCTTATGTTGATTCAGGTATGCGGACTGTTTGAAGGCTTTCCCACA TTCTTTACATTTGTAGGGTTTTTCTCCAGTATGAATTCTTACTTTCATTC AGGGTTGTGGACCATCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 NA18956.hp1 NA19001.hp2 others(1): Show HG00621.hp2 NA18956.hp1 NA19001.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0219 a0001c0001t0004g0222 others(1): Show a0001c0001t0004g0097 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0260	4	326	0.0123	-166	c.11 others(9): Show c.112_*277del		ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	4/4				112		chr4	TogoVar
ACAP3_chr1_1287391_1312930	1289694	TGTCTCTG others(158): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCC CGTGTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18999.hp1 NA19079.hp1 others(1): Show NA18970.hp1 NA18999.hp1 NA19079.hp1 NA19088.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0003 a0004c0009 others(1): Show a0001c0001 a0001c0003 a0004c0009 a0007c0017	a0001c0001t0002 a0001c0003t0002 a0004c0009t0003 others(1): Show a0001c0001t0002 a0001c0003t0002 a0004c0009t0003 a0007c0017t0001	a0001c0001t0002g0118 a0001c0003t0002g0119 a0004c0009t0003g0124 others(1): Show a0001c0001t0002g0118 a0001c0003t0002g0119 a0004c0009t0003g0124 a0007c0017t0001g0083	4	295	0.0136	-165	c.37 others(11): Show c.3705_*3869del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2696		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289716	CCTGCTCC others(158): Show CCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG03831.hp1 HG01515.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0159 a0001c0001t0001g0161	2	295	0.0068	-165	c.36 others(11): Show c.3683_*3847del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2674		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1238540	CCCCTCCC others(158): Show CCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTC TGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTG CCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0010 a0002c0016t0006g0010	1	106	0.0094	-165	c.136 others(19): Show c.1361+3426_1361+3590del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238547	CTCCCGGT others(158): Show CTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0056 a0002c0002t0046g0056	1	106	0.0094	-165	c.136 others(19): Show c.1361+3419_1361+3583del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238896	CCTGCATC others(158): Show CCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0086 a0002c0002t0065g0086	1	106	0.0094	-165	c.136 others(19): Show c.1361+3070_1361+3234del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
AGAP5_chr10_73669295_73703109	73673355	GCCATTCT others(158): Show GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGC CACCATGCCCAGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTTG GTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCATTGCAAGCTCC GCCTCCTGGGTTCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	368	0.0027	-165	c.10 others(11): Show c.1079_*1243del		AGAP5	ENSG00000172650.15	transcript	ENST00000374094.9	protein_coding					939		chr10	TogoVar
ALDH1L2_chr12_105014790_105089458	105036156	ATATAATA others(158): Show ATATAATATATACACGTATATTTATATATGTGTATATAATATATACACGT ATATTTATATATGTGTATATAATATATACACGTATATTTATATATGTGTA TATAATATATACACGTATATTTATATATGTGTATATATTATATATATACG TATATTTATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03491.hp1 HG03492.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0068 a0001c0002t0010g0072 a0001c0002t0010g0073 a0001c0002t0010g0068 a0001c0002t0010g0072 a0001c0002t0010g0073	3	386	0.0078	-165	c.214 others(19): Show c.2145+1782_2146-1759del		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22						chr12	TogoVar
ANK2_chr4_113044653_113388736	113064718	TTGTTAGA others(158): Show TTGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGT AGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAA TGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGTA GAACTTCTAACAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0074 a0001c0007t0001g0074	1	178	0.0056	-165	c.84+ others(17): Show c.84+15277_84+15441del		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP8_chr22_44747575_44867784	44800593	GGCGCCCC others(158): Show GGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAG CTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGG GCGCCCCTCCCCGCAGCTGTCCGTGTGAGGGGGTGCCTCTCCCCGCAGCT GTCCGTGTGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(79): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01069.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp2 NA19000.hp2 NA19004.hp1 NA19009.hp2 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0026 a0027	a0001c0001 a0001c0007 a0001c0018 others(15): Show a0001c0001 a0001c0007 a0001c0018 a0001c0021 a0002c0003 a0002c0011 a0002c0016 a0002c0060 a0002c0064 a0003c0005 a0003c0036 a0003c0062 a0004c0017 a0005c0025 a0008c0033 a0010c0054 a0026c0059 a0027c0065	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0007t0001 a0001c0018t0001 a0001c0021t0001 a0002c0003t0003 a0002c0003t0004 a0002c0011t0005 a0002c0011t0007 a0002c0016t0004 a0002c0060t0004 a0002c0064t0005 a0003c0005t0002 a0003c0005t0014 a0003c0036t0002 a0003c0062t0002 a0004c0017t0002 a0005c0025t0001 a0008c0033t0005 a0010c0054t0004 a0026c0059t0005 a0027c0065t0004	a0001c0001t0001g0097 a0001c0001t0001g0192 a0001c0001t0001g0200 others(79): Show a0001c0001t0001g0097 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0370 a0001c0001t0003g0063 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0089 a0001c0001t0003g0153 a0001c0001t0003g0159 a0001c0001t0003g0188 a0001c0001t0003g0191 a0001c0001t0003g0239 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0305 a0001c0001t0003g0312 a0001c0001t0003g0326 a0001c0001t0003g0350 a0001c0001t0003g0367 a0001c0001t0011g0221 a0001c0007t0001g0170 a0001c0007t0001g0219 a0001c0007t0001g0356 a0001c0018t0001g0125 a0001c0021t0001g0014 a0002c0003t0003g0276 a0002c0003t0004g0002 a0002c0003t0004g0011 a0002c0003t0004g0052 a0002c0003t0004g0115 a0002c0003t0004g0120 a0002c0003t0004g0127 a0002c0003t0004g0139 a0002c0003t0004g0154 a0002c0003t0004g0162 a0002c0003t0004g0180 a0002c0003t0004g0184 a0002c0003t0004g0207 a0002c0003t0004g0242 a0002c0003t0004g0245 a0002c0003t0004g0251 a0002c0003t0004g0253 a0002c0003t0004g0256 a0002c0003t0004g0257 a0002c0003t0004g0270 a0002c0003t0004g0309 a0002c0003t0004g0351 a0002c0003t0004g0359 a0002c0003t0004g0360 a0002c0003t0004g0368 a0002c0011t0005g0284 a0002c0011t0007g0182 a0002c0016t0004g0111 a0002c0016t0004g0199 a0002c0016t0004g0229 a0002c0060t0004g0230 a0002c0064t0005g0067 a0003c0005t0002g0005 a0003c0005t0002g0009 a0003c0005t0002g0036 a0003c0005t0002g0090 a0003c0005t0002g0095 a0003c0005t0002g0133 a0003c0005t0002g0175 a0003c0005t0002g0193 a0003c0005t0002g0194 a0003c0005t0002g0258 a0003c0005t0002g0296 a0003c0005t0002g0325 a0003c0005t0002g0369 a0003c0005t0014g0112 a0003c0036t0002g0078 a0003c0036t0002g0145 a0003c0062t0002g0255 a0004c0017t0002g0025 a0004c0017t0002g0183 a0005c0025t0001g0347 a0008c0033t0005g0336 a0010c0054t0004g0117 a0026c0059t0005g0013 a0027c0065t0004g0030	82	390	0.2103	-165	c.80- others(15): Show c.80-1483_80-1319del		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11						chr22	TogoVar
ASMT_chrX_1610059_1648081	1637748	GTGTCCCA others(158): Show GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	223	0.0045	-165	c.910 others(17): Show c.910+1197_910+1361del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639599	TCATGAGG others(158): Show TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCATCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0181 a0002c0002t0002g0181	1	223	0.0045	-165	c.910 others(17): Show c.910+3108_911-2971del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640752	TCATGAGG others(158): Show TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCATCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03540.hp1 HG02615.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0002g0135 a0001c0001t0001g0006 a0001c0001t0002g0135	2	223	0.0090	-165	c.911 others(17): Show c.911-1905_911-1741del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641063	GTCCATCC others(158): Show GTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG04184.hp2 HG02451.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0203 a0001c0003t0001g0050 a0001c0001t0001g0203 a0001c0003t0001g0050	2	223	0.0090	-165	c.911 others(17): Show c.911-1634_911-1470del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641208	GTGTCCCA others(158): Show GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTG TGTGTGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02080.hp1 NA18954.hp2 others(3): Show HG01346.hp1 HG02080.hp1 NA18954.hp2 NA19010.hp2 NA19057.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0161 a0001c0003t0002g0150 a0002c0002t0001g0098 others(3): Show a0001c0001t0002g0161 a0001c0003t0002g0150 a0002c0002t0001g0098 a0002c0002t0001g0151 a0002c0002t0002g0166 a0002c0002t0002g0172	6	223	0.0269	-165	c.911 others(17): Show c.911-1575_911-1411del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641466	CTCCTGTG others(158): Show CTCCTGTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGC CTCTGTGTGTGTGTTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACC CATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGG GGACAGTGTCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	223	0.0045	-165	c.911 others(17): Show c.911-1322_911-1158del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641592	GCACAGCC others(158): Show GCACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGG TCCACCCATCCTGGTGGTCCATGAGTACATGGACACAGCCTCTCTGTGTG AGATGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGGTGG TCCATGAGTACATGGA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	223	0.0045	-165	c.911 others(17): Show c.911-1200_911-1036del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
B3GNTL1_chr17_82937149_83056770	83055646	GGTGCTGG others(158): Show GGTGCTGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCCCACAGACAGTGT TAGACTCGGTGCTGGGTGGGGAGGTTCCCTGCAGGTCCGCACGGACGGTG TTAGACTCGGTGCTGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCGCACG GACGGTGTTAGACTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0241 a0001c0007t0004g0241	1	266	0.0038	-165	c.-40 others(11): Show c.-4060_-3896del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding					3877		chr17	TogoVar
BAG1_chr9_33247471_33269708	33251886	GAGAAGGG others(158): Show GAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCT CCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA AGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTC CCCTTCTCACGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01168.hp1 others(34): Show HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01496.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02738.hp2 HG02818.hp2 HG03041.hp2 HG03195.hp1 HG03516.hp2 HG06807.hp1 NA18906.hp2 NA18939.hp1 NA18952.hp1 NA18960.hp1 NA18965.hp1 NA18974.hp1 NA18978.hp2 NA18980.hp1 NA18989.hp1 NA18998.hp1 NA19001.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19068.hp2 NA19081.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0034 a0001c0001t0043	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0026 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0004g0004 a0001c0001t0004g0009 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0015g0045 a0001c0001t0015g0048 a0001c0001t0034g0043 a0001c0001t0043g0046	37	348	0.1063	-165	c.31 others(11): Show c.3168_*3332del		BAG1	ENSG00000107262.26	transcript	ENST00000634734.3	protein_coding					584		chr9	TogoVar
BCL11A_chr2_60452194_60558654	60467398	GGTGATGG others(158): Show GGTGATGGTGATGGTACTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGG TAATGGTGGTGGTGGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTG GTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGATGGTACTGGT GATGGTGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0083 a0001c0001t0036g0083	1	262	0.0038	-165	c.487 others(17): Show c.487+1169_487+1333del		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
BMPR1B_chr4_94752955_95163448	94860806	AACCTTTT others(158): Show AACCTTTTATATGTCTTTTATATGTTGGCTTTTATATGTCTTTCTCTTTC ACGAGATCCCATCCCATTCCATTTTCTTTCATTTTATTCTGTATTCCTTC ATATATGTGTATATCTCTTTTGCCTGGGTCTTGAGAGTTATAGTCTTGAG GTAGTATAGTGCTGTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG01884.hp2 others(23): Show HG01099.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(17): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0001t0031 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0051 a0001c0001t0055 a0001c0002t0008 a0001c0002t0021	a0001c0001t0005g0013 a0001c0001t0005g0017 a0001c0001t0005g0022 others(23): Show a0001c0001t0005g0013 a0001c0001t0005g0017 a0001c0001t0005g0022 a0001c0001t0007g0025 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0009g0026 a0001c0001t0010g0046 a0001c0001t0011g0012 a0001c0001t0011g0024 a0001c0001t0012g0128 a0001c0001t0014g0221 a0001c0001t0015g0023 a0001c0001t0016g0126 a0001c0001t0020g0130 a0001c0001t0024g0133 a0001c0001t0028g0127 a0001c0001t0031g0121 a0001c0001t0036g0021 a0001c0001t0037g0129 a0001c0001t0039g0223 a0001c0001t0051g0135 a0001c0001t0055g0134 a0001c0002t0008g0219 a0001c0002t0008g0220 a0001c0002t0021g0014	26	226	0.1150	-165	c.-18 others(21): Show c.-182-15023_-182-14859del		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
BRSK2_chr11_1384934_1467689	1441313	CCATTAAC others(158): Show CCATTAACTACCCCTCAAGTGCACCATCCCCCCCATTAGCGGCCCCTCAA GTGCACCGTGCCCCCCATTAGCTGCCCCTCAAGTGCACTGTCCCCCCATA GTGGCCCCTCAGGTGCACCGTCCCCCCCATTAGCTACTCCTCAAGTGCAC CATCCCCTCCCCCCCA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	360	0.0028	-165	c.413 others(15): Show c.413+386_413+550del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19						chr11	TogoVar
CBFA2T3_chr16_88869858_88982207	88894276	CGCACACA others(158): Show CGCACACATGCACACACACATGCATACATATACACATGCACACAATGTAC ACACATGCACGCACACATGCACACACACATGCATACATATACACATGCAC ACAATGTACACACATGCACACACACATGCACACACACATGCATACATATA CACATGCACACAATGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02922.hp2 HG02965.hp1 HG01167.hp2 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0030 a0001c0002t0005 a0001c0002t0030	a0001c0002t0005g0005 a0001c0002t0005g0217 a0001c0002t0030g0089 a0001c0002t0005g0005 a0001c0002t0005g0217 a0001c0002t0030g0089	3	284	0.0106	-165	c.380 others(17): Show c.380-1956_380-1792del		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11						chr16	TogoVar
CCDC38_chr12_95862048_95947614	95908516	AGAGGGAG others(158): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGGAGAGGGAGAGGGAGAGGGAGGAGAGGG AGAGGGAGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp2 HG01256.hp1 others(7): Show HG00735.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01516.hp1 HG01975.hp2 HG02074.hp2 HG03017.hp1 HG03834.hp1 HG04228.hp2	a0003 a0003	a0003c0006 a0003c0013 a0003c0020 a0003c0006 a0003c0013 a0003c0020	a0003c0006t0001 a0003c0006t0002 a0003c0013t0002 others(1): Show a0003c0006t0001 a0003c0006t0002 a0003c0013t0002 a0003c0020t0002	a0003c0006t0001g0113 a0003c0006t0002g0005 a0003c0006t0002g0262 others(6): Show a0003c0006t0001g0113 a0003c0006t0002g0005 a0003c0006t0002g0262 a0003c0006t0002g0265 a0003c0006t0002g0268 a0003c0006t0002g0270 a0003c0006t0002g0285 a0003c0013t0002g0260 a0003c0020t0002g0252	10	350	0.0286	-165	c.305 others(17): Show c.305-2230_305-2066del		CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15						chr12	TogoVar
CCL17_chr16_57399767_57421063	57403251	ATTATCTA others(158): Show ATTATCTATAATATATATAATATATATTATTATCTATAATATATATAATA TATATTATTATCTATAATATATATAATATATATTATTATCTATAATATAT ATAATATATATATTATAATATATATAACATATATTATATATAATATATAT ATTATAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02056.hp2 HG02630.hp1 others(5): Show HG01243.hp2 HG02056.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp1 NA18953.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0048 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0048 a0001c0001t0001g0120 a0001c0001t0001g0121	8	388	0.0206	-165	c.-16 others(11): Show c.-1644_-1480del		CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding					1515		chr16	TogoVar
CD7_chr17_82309873_82322608	82319344	ATGTGTGT others(158): Show ATGTGTGTGCAGAGACGGGTGCGTGTGGACACGCGTGTGTGCAGAGACGG GTGCGCATGGCTCCACGCATGTGCAGAGACGGGTGTGCGTGACTCCACAC GTGTTTGCAGAGACGGGTGCATGTGAACACGTGTGTGTGCAGAGACGGGT GTGCGTGACTCGCGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	416	0.0024	-165	c.-20 others(11): Show c.-2014_-1850del		CD7	ENSG00000173762.8	transcript	ENST00000312648.8	protein_coding					1737		chr17	TogoVar
CDH12_chr5_21745673_22858344	22314954	TTTTTTTT others(158): Show TTTTTTTTTTTTTTTTTTGAGATGGAGTATCCCTCTGTCACCCAGGCTGG AGTGCAGTGGCGCGATCTAGGCTCACTGCAAGCTCCGCCTCCCAGGTTCA TGCCATTCTCCTGCCTCCTGCCTCAGTAGCCAGGACTACAGGCGCCTGCC ACCGTGCCTGCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03669.hp1 HG02723.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0027 a0002c0003t0001 a0001c0002t0027 a0002c0003t0001	a0001c0002t0027g0036 a0002c0003t0001g0005 a0001c0002t0027g0036 a0002c0003t0001g0005	2	60	0.0333	-165	c.-33 others(21): Show c.-333+90138_-333+90302del		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14						chr5	TogoVar
CEL_chr9_133056981_133076861	133071240	GCCCCCGT others(158): Show GCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC CCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACG GGTGACTCCGGGGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp1 HG03486.hp1 HG03654.hp1 HG01109.hp1 HG03486.hp1 HG03654.hp1	a0051 a0052 a0064 a0051 a0052 a0064	a0051c0078 a0052c0079 a0064c0045 a0051c0078 a0052c0079 a0064c0045	a0051c0078t0001 a0052c0079t0001 a0064c0045t0001 a0051c0078t0001 a0052c0079t0001 a0064c0045t0001	a0051c0078t0001g0041 a0052c0079t0001g0031 a0064c0045t0001g0035 a0051c0078t0001g0041 a0052c0079t0001g0031 a0064c0045t0001g0035	3	416	0.0072	-165	c.183 others(9): Show c.1833_1997del	p.Ala others(13): Show p.Ala612_Gly666del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1855/2381	1833/2262	611/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071369	GCCCCCCC others(158): Show GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCC CACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG CCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCC ACGGGTGACGCCGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02897.hp2 HG02897.hp2	a0030 a0030	a0030c0044 a0030c0044	a0030c0044t0001 a0030c0044t0001	a0030c0044t0001g0022 a0030c0044t0001g0022	1	416	0.0024	-165	c.189 others(9): Show c.1899_2063del	p.Ala others(13): Show p.Ala634_Gly688del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1921/2381	1899/2262	633/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071401	GGCCCCCC others(158): Show GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGC CCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC GCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCC CACGGGTGACTCCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02083.hp1 HG02155.hp1 HG02083.hp1 HG02155.hp1	a0028 a0028	a0028c0032 a0028c0032	a0028c0032t0001 a0028c0032t0001	a0028c0032t0001g0001 a0028c0032t0001g0001	2	416	0.0048	-165	c.194 others(9): Show c.1945_2109del	p.Pro others(13): Show p.Pro649_Val703del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1967/2381	1945/2262	649/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CERS1_chr19_18863545_18901158	18886091	GCTGCCAG others(158): Show GCTGCCAGACACCAAATTCAAGGGCTATGCTCTGGACGGGCACGGTGGCT CATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGAGAGTTGCTTG AGTCCAGGAGTTCGAGACCAGCCTGGACAACATGGTGAGACGCTGTCTCT GCAAAAAAATATATAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp2 NA18906.hp1 HG03130.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0240 a0001c0002t0001g0326 a0001c0002t0010g0309 a0001c0002t0001g0240 a0001c0002t0001g0326 a0001c0002t0010g0309	3	380	0.0079	-165	c.410 others(17): Show c.410-1989_410-1825del		CERS1	ENSG00000223802.9	transcript	ENST00000623882.4	protein_coding	2/7						chr19	TogoVar
CFAP46_chr10_132803392_132947570	132914127	CCCCGAGG others(158): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0124 a0008c0009t0001g0124	1	246	0.0041	-165	c.212 others(18): Show c.2121-1034_2121-870del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914292	GCCCGAGG others(158): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAG CCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA20129.hp1 HG02074.hp2 NA20129.hp1	a0002 a0027 a0002 a0027	a0002c0045 a0027c0034 a0002c0045 a0027c0034	a0002c0045t0001 a0027c0034t0002 a0002c0045t0001 a0027c0034t0002	a0002c0045t0001g0200 a0027c0034t0002g0021 a0002c0045t0001g0200 a0027c0034t0002g0021	2	246	0.0081	-165	c.212 others(19): Show c.2121-1199_2121-1035del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CLDN14_chr21_36455621_36485122	36484957	CTGCCTCG others(158): Show CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTACT GGGCTGATAAGGGCCAATTCTAATGGGCTCATCTTAACTTGATGACATCC ACAAAGTCTCTGTTTCCAAATAAGGTCACATTCACAGGCACCAGAAGGTA GGGCTTCAATATGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01943.hp1 HG02148.hp1 others(3): Show HG01361.hp2 HG01943.hp1 HG02148.hp1 HG02293.hp1 HG03704.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0063 a0001c0006t0001g0016 a0001c0006t0001g0064 a0001c0001t0001g0063 a0001c0006t0001g0016 a0001c0006t0001g0064	6	424	0.0142	-165	c.-57 others(11): Show c.-5709_-5545del		CLDN14	ENSG00000159261.12	transcript	ENST00000399135.6	protein_coding					4836		chr21	TogoVar
CLN8_chr8_1758789_1791570	1763479	GCCGCGCC others(158): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGC CCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG00673.hp2 others(55): Show HG00140.hp2 HG00597.hp2 HG00673.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02602.hp2 HG02698.hp2 HG03017.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18961.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18980.hp1 NA18983.hp1 NA18998.hp1 NA19007.hp1 NA19012.hp2 NA19059.hp1 NA19065.hp2 NA19080.hp1 NA19084.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0009 a0001c0001 a0001c0006 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0021 a0001c0001t0036 a0001c0001t0037 a0001c0001t0071 a0001c0001t0074 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0088 a0001c0001t0113 a0001c0001t0114 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0006t0112 a0005c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0003g0046 a0001c0001t0003g0113 a0001c0001t0004g0004 a0001c0001t0004g0118 a0001c0001t0005g0003 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0073 a0001c0001t0005g0076 a0001c0001t0006g0003 a0001c0001t0008g0044 a0001c0001t0009g0002 a0001c0001t0009g0112 a0001c0001t0010g0104 a0001c0001t0017g0003 a0001c0001t0017g0015 a0001c0001t0021g0004 a0001c0001t0021g0035 a0001c0001t0036g0003 a0001c0001t0037g0003 a0001c0001t0071g0095 a0001c0001t0074g0002 a0001c0001t0079g0002 a0001c0001t0080g0002 a0001c0001t0081g0019 a0001c0001t0082g0117 a0001c0001t0088g0092 a0001c0001t0113g0096 a0001c0001t0114g0021 a0001c0001t0116g0003 a0001c0001t0117g0031 a0001c0001t0118g0003 a0001c0006t0112g0003 a0005c0009t0001g0074	58	413	0.1404	-165	c.-52 others(9): Show c.-529_-365del		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					309		chr8	TogoVar
COL18A1_chr21_45400165_45518720	45442595	TGGTGCTG others(158): Show TGGTGCTGGTGTGGGCGGCGGTCCTGGTGTGGGCAGCGGGGCTGGTGTGG GCAGCGGTGCTGGTGTGGGCGGCGGTCCTGGTGTGGGCGGTGGTGGTGCT GGTGTGGGCGGAGGTCCTGGTGTGGGCGGCGGTCCTGGTGTGGGCAGCGG GGCTGGTGTGGGCAGC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp1 HG02965.hp2 others(1): Show HG01167.hp2 HG02647.hp1 HG02965.hp2 NA18522.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 others(1): Show a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 a0001c0011t0001g0050	4	292	0.0137	-165	c.107 others(19): Show c.107-25613_107-25449del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178239598	CTGACTCT others(158): Show CTGACTCTGGCCTGGGTCCTGCCGAGAGCCGTGTGGCTTCCTGCCTGATG TGACACTGACTCTGGCCTGGGTCCTGCCGAGAGCCGTGTGGCTTCCTGCC TGATGTGACACTGACTCTGGCCTGGGTCCTGCCGAGAGCCGTGTGGCTTC CTGCCTGATGTGACAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp1 HG01168.hp2 others(25): Show HG00738.hp2 HG01071.hp1 HG01168.hp2 HG01358.hp2 HG01517.hp1 HG01934.hp2 HG02145.hp2 HG02257.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18955.hp1 NA18990.hp2 NA19002.hp1 NA19060.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0011	a0001c0001 a0001c0004 a0002c0002 others(5): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005 a0003c0023 a0007c0019 a0011c0013	a0001c0001t0005 a0001c0004t0005 a0002c0002t0010 others(5): Show a0001c0001t0005 a0001c0004t0005 a0002c0002t0010 a0002c0003t0005 a0003c0005t0005 a0003c0023t0010 a0007c0019t0005 a0011c0013t0005	a0001c0001t0005g0009 a0001c0001t0005g0072 a0001c0001t0005g0078 others(25): Show a0001c0001t0005g0009 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0005g0095 a0001c0001t0005g0107 a0001c0001t0005g0113 a0001c0001t0005g0133 a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0005g0161 a0001c0001t0005g0207 a0001c0001t0005g0216 a0001c0001t0005g0222 a0001c0004t0005g0059 a0001c0004t0005g0060 a0001c0004t0005g0105 a0001c0004t0005g0106 a0002c0002t0010g0228 a0002c0003t0005g0066 a0002c0003t0005g0068 a0002c0003t0005g0115 a0002c0003t0005g0131 a0002c0003t0005g0146 a0002c0003t0005g0151 a0003c0005t0005g0208 a0003c0023t0010g0236 a0007c0019t0005g0160 a0011c0013t0005g0132	28	236	0.1186	-165	c.158 others(17): Show c.1582-584_1582-420del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	27/28						chr5	TogoVar
COL6A1_chr21_45976770_46010048	45988046	CGGGGTCC others(158): Show CGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGG GCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCA GATGGAGGGGACGGCG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0123 a0002c0002t0010g0123	1	128	0.0078	-165	c.804 others(15): Show c.804+437_804+601del		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
CRKL_chr22_20912407_20958747	20952084	CCATGTTG others(158): Show CCATGTTGAGCCATGAGTGGAGTTTCCAACAGAGGGAGGAATGTGTGCCT TGTTCAAGGAGGGCACGACCCTTAGGCCTTTTTCAACCAGATTTAGCTGA AGGGCTTGACACCTTTGAATTACAGCAGTTGACTCAGAGTGCAAGAAGTC TGGCCATTTTGGAAAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02976.hp2 others(1): Show HG01257.hp1 HG01258.hp2 HG02976.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0021 a0001c0001t0010g0024 a0001c0001t0010g0001 a0001c0001t0010g0021 a0001c0001t0010g0024	4	370	0.0108	-165	c.22 others(11): Show c.2242_*2406del		CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding	3/3				2242	INFO_REALIGN_3_PRIME	chr22	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)