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
ANKLE2_chr12_132720503_132766832	132727606	C C	CGCACTGC others(93): Show CGCACTGCTGAACCCTGGCACCGTGGGCACACGCGCCCGGGCGGAGGAGA GGCACTGCTGAACCCTGGCACCGTGGGCACACGCGCCCGGATGGAGGAGA T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0011 a0003c0003t0007g0011	1	350	0.0029	100	c.261 others(117): Show c.2616-164_2616-163insATCTCCTCCATCCGGGCGCGTGTGCCCA CGGTGCCAGGGTTCAGCAGTGCCTCTCCTCCGCCCGGGCGCGTGTGCCCA CGGTGCCAGGGTTCAGCAGTGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(93): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG01891.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0323 a0001c0001t0001g0065 a0001c0001t0001g0323	2	350	0.0057	100	c.181 others(117): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATATG TTTTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGT ATATCATATAGCACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(93): Show ATATGATATGTGCTATGTGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	350	0.0029	100	c.181 others(117): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATATG TTTTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGT ATATCACATAGCACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89323504	C C	CAGGGCAG others(93): Show CAGGGCAGGGGGGCTGAGCCGAGGGCAGGGGGGCTGAGCCGAGGGCAGGG GGGCAGAGCCCAGGGCAGGGGGGCAGAGCCCAGGGCAGGGGGGCTGAGCC G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp2 HG02040.hp2 others(13): Show HG01243.hp1 HG01346.hp2 HG02040.hp2 HG02148.hp1 HG02165.hp2 HG02523.hp2 HG02647.hp2 HG03490.hp1 HG03492.hp2 HG03927.hp2 NA18945.hp1 NA18966.hp2 NA18977.hp1 NA18995.hp2 NA19056.hp1 NA19079.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0024	a0001c0001 a0002c0009 a0003c0003 others(1): Show a0001c0001 a0002c0009 a0003c0003 a0024c0028	a0001c0001t0001 a0002c0009t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0009t0001 a0003c0003t0001 a0024c0028t0001	a0001c0001t0001g0231 a0001c0001t0001g0281 a0001c0001t0001g0310 others(13): Show a0001c0001t0001g0231 a0001c0001t0001g0281 a0001c0001t0001g0310 a0002c0009t0001g0294 a0002c0009t0001g0301 a0003c0003t0001g0034 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0287 a0003c0003t0001g0296 a0003c0003t0001g0298 a0003c0003t0001g0300 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0305 a0024c0028t0001g0204	16	310	0.0516	100	c.-59 others(117): Show c.-59-6427_-59-6426insCGGCTCAGCCCCCCTGCCCTGGGCTCTG CCCCCCTGCCCTGGGCTCTGCCCCCCTGCCCTCGGCTCAGCCCCCCTGCC CTCGGCTCAGCCCCCCTGCCCT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89323526	G G	GGGCAGGG others(93): Show GGGCAGGGGGGCTGAGCCGAGGGCAGGGGGGCAGAGCCCAGGGCAGGGGG GCAGAGCCCAGGGCAGGGGGGCTGAGCCGAGGGCAGGGGGGCTGAGCCGA A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19086.hp1 HG00423.hp1 NA19086.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0297 a0009c0016t0001g0308 a0009c0016t0001g0297 a0009c0016t0001g0308	2	310	0.0065	100	c.-59 others(117): Show c.-59-6449_-59-6448insTTCGGCTCAGCCCCCCTGCCCTCGGCTC AGCCCCCCTGCCCTGGGCTCTGCCCCCCTGCCCTGGGCTCTGCCCCCCTG CCCTCGGCTCAGCCCCCCTGCC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANXA10_chr4_168087537_168192736	168155482	T T	TAATTATA others(93): Show TAATTATATATTATAAATATATATAATTATATAATATATAATTATATATT ATAAATATATATAATTATATAATATATAATTATATATTATAAATATATAT A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0109 a0001c0003t0001g0109	1	284	0.0035	100	c.196 others(117): Show c.196-7045_196-7044insATTATATATTATAAATATATATAATTAT ATAATATATAATTATATATTATAAATATATATAATTATATAATATATAAT TATATATTATAAATATATATAA	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
AP2A2_chr11_920870_1017240	1009515	A A	ACGGCCCC others(93): Show ACGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAGGG GCGGCCCCGGGGGACACGCAGCCCACGACCCAGCGCCAGGGTCTGGAGGG G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	268	0.0037	100	c.260 others(116): Show c.2607+137_2608-50dupAGCCCGCGACCCAGCGCCAGGGTCTGGAG GGGCGGCCCCGGGGGACACGCAGCCCACGACCCAGCGCCAGGGTCTGGAG GGGCGGCCCCGGGGGACACGC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	1009515	A A	ACGGCCCC others(93): Show ACGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAGGG GCGGCCCCGGGGGACACGCTGCCCGCGACCCAGCGCCAGGGTCTGGAGGG G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0184 a0001c0002t0003g0184	1	268	0.0037	100	c.260 others(116): Show c.2608-100_2608-99insTGCCCGCGACCCAGCGCCAGGGTCTGGAG GGGCGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAG GGGCGGCCCCGGGGGACACGC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	1009515	A A	ACGGCCCC others(93): Show ACGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAGGG GCGGCCCCGGGGGACACGCTGCCCGCGACCCCGCGCCAGGGTCTGGAGGG G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp2 HG01071.hp2 others(17): Show HG00597.hp1 HG01069.hp2 HG01071.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02523.hp2 HG02738.hp2 HG03831.hp1 HG03834.hp2 HG06807.hp2 NA18983.hp1 NA18998.hp1 NA19070.hp1 NA19070.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0003t0002 a0001c0003t0008	a0001c0001t0002g0053 a0001c0002t0002g0136 a0001c0002t0002g0204 others(17): Show a0001c0001t0002g0053 a0001c0002t0002g0136 a0001c0002t0002g0204 a0001c0002t0002g0209 a0001c0002t0002g0217 a0001c0002t0002g0219 a0001c0002t0002g0221 a0001c0002t0003g0178 a0001c0002t0003g0182 a0001c0002t0012g0220 a0001c0003t0002g0005 a0001c0003t0002g0134 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0206 a0001c0003t0002g0211 a0001c0003t0002g0215 a0001c0003t0002g0259 a0001c0003t0008g0185 a0001c0003t0008g0189	20	268	0.0746	100	c.260 others(116): Show c.2608-100_2608-99insTGCCCGCGACCCCGCGCCAGGGTCTGGAG GGGCGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAG GGGCGGCCCCGGGGGACACGC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3S2_chr15_89825599_89898994	89854666	T T	TGCCCGGC others(93): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCC C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0086 a0001c0001t0005g0086	1	312	0.0032	100	c.345 others(119): Show c.345+16808_345+16809insGGGGGGCCGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854698	T T	TGGGGGGG others(93): Show TGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	312	0.0032	100	c.345 others(119): Show c.345+16776_345+16777insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCCGACCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(93): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	312	0.0032	100	c.345 others(119): Show c.345+16678_345+16679insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(93): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04199.hp2 NA19005.hp1 HG02004.hp2 HG04199.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0008g0114 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0008g0114	3	312	0.0096	100	c.345 others(119): Show c.345+16579_345+16678dupCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854856	G G	GCCCCCCG others(93): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	312	0.0032	100	c.345 others(119): Show c.345+16618_345+16619insGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGG	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854894	T T	TGGGGGGG others(93): Show TGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02717.hp2 others(2): Show HG01243.hp1 HG02109.hp1 HG02717.hp2 HG03195.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0102 a0001c0001t0005g0074 a0001c0001t0005g0075 others(2): Show a0001c0001t0003g0102 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0080 a0001c0001t0005g0081	5	312	0.0160	100	c.345 others(119): Show c.345+16580_345+16581insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
ARHGAP26_chr5_142765377_143234007	143012548	C C	CATATATA others(93): Show CATATATATATATATATATATATATACATATATATATATATATATATACA TATATATATACATATATATACATATATATATACATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0185 a0001c0002t0001g0186	2	198	0.0101	100	c.110 others(119): Show c.1108-1529_1108-1528insTATATATATATATATATATATACATA TATATATATATATATATACATATATATATACATATATATACATATATATA TACATATATATATATATATATATA	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF10_chr8_1818926_1963641	1890552	A A	AGAGTTTT others(93): Show AGAGTTTTGAGGAGTCACTGAGTGTGTAAGGGTCTGTGAGGAGACACTGA GGAGTTTTGAGGAGTCACTGAGTGTGTAAGGGTCTGTGAGGAGACACTGA G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0015 a0001c0020t0015	a0001c0020t0015g0204 a0001c0020t0015g0204	1	363	0.0028	100	c.118 others(119): Show c.1183-2967_1183-2966insGAGTTTTGAGGAGTCACTGAGTGTGT AAGGGTCTGTGAGGAGACACTGAGGAGTTTTGAGGAGTCACTGAGTGTGT AAGGGTCTGTGAGGAGACACTGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955344	T T	TTCCTCTG others(93): Show TTCCTCTGGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACT GTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCAC A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 NA19030.hp1 HG02451.hp1 HG03209.hp1 NA19030.hp1	a0001 a0023 a0001 a0023	a0001c0012 a0001c0023 a0023c0089 a0001c0012 a0001c0023 a0023c0089	a0001c0012t0001 a0001c0023t0010 a0023c0089t0034 a0001c0012t0001 a0001c0023t0010 a0023c0089t0034	a0001c0012t0001g0031 a0001c0023t0010g0160 a0023c0089t0034g0350 a0001c0012t0001g0031 a0001c0023t0010g0160 a0023c0089t0034g0350	3	363	0.0083	100	c.352 others(119): Show c.3521-1405_3521-1404insTCCTCTGGAGGATAGCCAGGTGCTCC CTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCAT CCTGGAAGGAGGCACACTCTCACA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28			chr8	TogoVar
ARID1B_chr6_156772378_157215779	157213166	A A	AGTAAAAC others(93): Show AGTAAAACGTCTTAGTCCATTGAAGGCCTGTATTTGGCACTAAATACTAA ATACTAAATTTAGTGCCAATACAGGCCTTCAATGGACTAAGCCGTTGTAC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00621.hp1 others(144): Show HG00280.hp1 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18964.hp1 NA18964.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029	a0001c0001 a0001c0002 a0001c0007 others(38): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0002c0003 a0002c0014 a0003c0010 a0003c0011 a0003c0012 a0004c0009 a0004c0029 a0005c0004 a0006c0006 a0007c0031 a0007c0032 a0008c0005 a0009c0041 a0010c0015 a0011c0030 a0012c0020 a0013c0025 a0014c0024 a0015c0023 a0016c0022 a0017c0019 a0018c0026 a0019c0027 a0020c0028 a0021c0033 a0022c0034 a0023c0036 a0024c0035 a0025c0039 a0026c0038 a0027c0037 a0028c0040 a0029c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0007t0001 a0001c0007t0002 a0001c0008t0014 a0001c0016t0001 a0001c0017t0020 a0001c0018t0001 a0001c0021t0007 a0002c0003t0002 a0002c0003t0009 a0002c0003t0018 a0002c0014t0002 a0003c0010t0001 a0003c0011t0004 a0003c0012t0013 a0004c0009t0001 a0004c0009t0004 a0004c0029t0007 a0005c0004t0008 a0006c0006t0001 a0007c0031t0001 a0007c0032t0015 a0008c0005t0002 a0009c0041t0005 a0010c0015t0002 a0011c0030t0001 a0012c0020t0001 a0013c0025t0005 a0014c0024t0023 a0015c0023t0002 a0016c0022t0001 a0017c0019t0001 a0018c0026t0016 a0019c0027t0001 a0020c0028t0001 a0021c0033t0002 a0022c0034t0002 a0023c0036t0017 a0024c0035t0022 a0025c0039t0021 a0026c0038t0002 a0027c0037t0019 a0028c0040t0002 a0029c0013t0009	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0018 others(144): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0082 a0001c0001t0003g0134 a0001c0001t0004g0057 a0001c0001t0004g0066 a0001c0001t0004g0150 a0001c0001t0005g0067 a0001c0001t0006g0041 a0001c0001t0006g0089 a0001c0001t0006g0136 a0001c0001t0006g0143 a0001c0001t0007g0036 a0001c0001t0011g0130 a0001c0001t0012g0068 a0001c0002t0001g0009 a0001c0002t0001g0021 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0032 a0001c0002t0001g0040 a0001c0002t0001g0063 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0002g0013 a0001c0002t0003g0016 a0001c0002t0003g0059 a0001c0002t0003g0064 a0001c0002t0003g0080 a0001c0002t0003g0105 a0001c0002t0005g0031 a0001c0007t0001g0139 a0001c0007t0002g0011 a0001c0008t0014g0102 a0001c0016t0001g0147 a0001c0017t0020g0055 a0001c0018t0001g0131 a0001c0021t0007g0124 a0002c0003t0002g0027 a0002c0003t0002g0054 a0002c0003t0009g0010 a0002c0003t0009g0053 a0002c0003t0018g0028 a0002c0014t0002g0029 a0003c0010t0001g0099 a0003c0011t0004g0103 a0003c0012t0013g0022 a0004c0009t0001g0094 a0004c0009t0004g0076 a0004c0029t0007g0095 a0005c0004t0008g0001 a0005c0004t0008g0002 a0005c0004t0008g0007 a0006c0006t0001g0042 a0006c0006t0001g0132 a0007c0031t0001g0005 a0007c0032t0015g0004 a0008c0005t0002g0043 a0008c0005t0002g0052 a0009c0041t0005g0008 a0010c0015t0002g0015 a0011c0030t0001g0096 a0012c0020t0001g0118 a0013c0025t0005g0133 a0014c0024t0023g0012 a0015c0023t0002g0014 a0016c0022t0001g0090 a0017c0019t0001g0087 a0018c0026t0016g0061 a0019c0027t0001g0112 a0020c0028t0001g0081 a0021c0033t0002g0051 a0022c0034t0002g0048 a0023c0036t0017g0006 a0024c0035t0022g0049 a0025c0039t0021g0047 a0026c0038t0002g0045 a0027c0037t0019g0046 a0028c0040t0002g0050 a0029c0013t0009g0044	147	150	0.9800	100	c.52 others(111): Show c.5275_*5276insGTAAAACGTCTTAGTCCATTGAAGGCCTGTATTT GGCACTAAATACTAAATACTAAATTTAGTGCCAATACAGGCCTTCAATGG ACTAAGCCGTTGTACT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding		2388		chr6	TogoVar
ARID1B_chr6_156772378_157215779	157213166	A A	AGTAAAAC others(93): Show AGTAAAACGTCTTAGTCCATTGAAGGCCTGTATTTGGCACTAAATACTAA ATACTAAATTTAGTGCCAATACAGGCCTTCAATGGACTAAGCCTTTGTAC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	150	0.0067	100	c.52 others(111): Show c.5275_*5276insGTAAAACGTCTTAGTCCATTGAAGGCCTGTATTT GGCACTAAATACTAAATACTAAATTTAGTGCCAATACAGGCCTTCAATGG ACTAAGCCTTTGTACT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding		2388		chr6	TogoVar
ARID1B_chr6_156772378_157215779	157213173	C C	CGTCTTAG others(93): Show CGTCTTAGTCCATTGAAGGCCTGTATTTGGCACTAAATACTAAATACTAA ATTTAGTGCCAATACAGGCCTTCAATGGACTAAGCCGTTGTACTGTAAAA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0135 a0001c0008t0010g0135	1	150	0.0067	100	c.52 others(111): Show c.5282_*5283insGTCTTAGTCCATTGAAGGCCTGTATTTGGCACTA AATACTAAATACTAAATTTAGTGCCAATACAGGCCTTCAATGGACTAAGC CGTTGTACTGTAAAAT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding		2395		chr6	TogoVar
ARID2_chr12_45724706_45913037	45899671	T T	TTATATAT others(93): Show TTATATATATATATGGTTTTATATATATATGGTTATATATATATATGGTT ATATATATATGGTTATATATATATATGGTTATATATATATGGTTTTATAT A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG00642.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0240 a0001c0001t0001g0246	2	318	0.0063	100	c.536 others(119): Show c.5364-5256_5364-5255insATATATGGTTTTATATATATATGGTT ATATATATATATGGTTATATATATATGGTTATATATATATATGGTTATAT ATATATGGTTTTATATATATATAT	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARSF_chrX_3036471_3117727	3073533	A A	ATATAGTA others(93): Show ATATAGTATATAGTATATAGTATATAGTATATAGTATATACTATATACTA TATATTATAAATATATACATATATTTATATGTTATATATAATATATAATA T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG02451.hp1 others(9): Show HG01109.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004 a0004c0011	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0002c0004t0001 a0004c0011t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(9): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0010t0001g0030 a0001c0010t0001g0037 a0002c0004t0001g0087 a0004c0011t0001g0031	12	193	0.0622	100	c.161 others(117): Show c.161+1358_161+1359insTATAGTATATAGTATATAGTATATAGTA TATAGTATATACTATATACTATATATTATAAATATATACATATATTTATA TGTTATATATAATATATAATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	3/10			chrX	TogoVar
ATE1_chr10_121735424_121933031	121903073	C C	CCAGACTG others(93): Show CCAGACTGGTCTCAAACTCCCTTGGCCAGACTGGTCTCAAACTCCCTTGG ACAGACTGGTCTCAAACTCCCTTGGACAGACTGGTCTCAAACTCCCTTGG A	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	320	0.0031	100	c.584 others(115): Show c.584-454_584-453insTCCAAGGGAGTTTGAGACCAGTCTGTCCAA GGGAGTTTGAGACCAGTCTGTCCAAGGGAGTTTGAGACCAGTCTGGCCAA GGGAGTTTGAGACCAGTCTG	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	5/11			chr10	TogoVar
ATP10A_chr15_25673712_25868327	25758753	A A	ATTCCGAT others(93): Show ATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0196 a0009c0011t0001g0196	1	300	0.0033	100	c.654 others(119): Show c.654+22265_654+22266insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112804147	G G	GCCCTCCT others(93): Show GCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCC TTCCCCTCCTTTTCCTCCTTGCTTCCCTTCCTTCCCTCATTCCCCTCCTT C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0164 a0001c0006t0001g0164	1	254	0.0039	100	c.163 others(115): Show c.163-782_163-781insCCCATCCCCTCTCTGCCCTCCTTCCCCTCC TTTTCCTCCTTGCTTCCCTTCCTTCCCTCATTCCCCTCCTTCCCCTCCTT CCCTCCTTCACCTCCCTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A5_chr3_193269789_193383753	193362775	T T	TTCTCTCT others(93): Show TTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTT CTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCT C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0042 a0004c0003t0001g0042	1	284	0.0035	100	c.385 others(115): Show c.385-139_385-138insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGA AAGAGAGAAAGAAAGAGAGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362775	T T	TTCTTTCT others(93): Show TTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTT CTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCT C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00741.hp2 others(27): Show HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02300.hp2 HG02486.hp1 HG03491.hp1 HG03492.hp2 NA18941.hp2 NA18949.hp2 NA18960.hp1 NA18966.hp1 NA18968.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA19007.hp2 NA19055.hp1 NA19056.hp2 NA19074.hp2 NA19081.hp1 NA19088.hp1 NA21309.hp2	a0004 a0005 a0006 others(2): Show a0004 a0005 a0006 a0007 a0011	a0004c0003 a0005c0004 a0006c0005 others(4): Show a0004c0003 a0005c0004 a0006c0005 a0007c0008 a0007c0010 a0007c0026 a0011c0014	a0004c0003t0001 a0004c0003t0002 a0005c0004t0001 others(6): Show a0004c0003t0001 a0004c0003t0002 a0005c0004t0001 a0005c0004t0002 a0006c0005t0002 a0007c0008t0002 a0007c0010t0001 a0007c0026t0002 a0011c0014t0001	a0004c0003t0001g0036 a0004c0003t0001g0037 a0004c0003t0001g0090 others(22): Show a0004c0003t0001g0036 a0004c0003t0001g0037 a0004c0003t0001g0090 a0004c0003t0001g0091 a0004c0003t0002g0217 a0004c0003t0002g0226 a0004c0003t0002g0250 a0005c0004t0001g0001 a0005c0004t0001g0043 a0005c0004t0001g0092 a0005c0004t0001g0185 a0005c0004t0002g0211 a0005c0004t0002g0222 a0006c0005t0002g0014 a0006c0005t0002g0209 a0006c0005t0002g0210 a0006c0005t0002g0223 a0006c0005t0002g0224 a0006c0005t0002g0245 a0007c0008t0002g0013 a0007c0008t0002g0015 a0007c0008t0002g0239 a0007c0010t0001g0041 a0007c0026t0002g0208 a0011c0014t0001g0046	30	284	0.1056	100	c.385 others(115): Show c.385-139_385-138insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGA AAGAGAGAAAGAAAGAAAGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362787	T T	TTCTCTCT others(93): Show TTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTT CTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCT C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG03130.hp2 others(3): Show HG02559.hp1 HG02647.hp1 HG03130.hp2 HG03195.hp2 HG03486.hp1 NA19043.hp2	a0004 a0030 a0031 a0004 a0030 a0031	a0004c0003 a0030c0028 a0031c0027 a0004c0003 a0030c0028 a0031c0027	a0004c0003t0001 a0004c0003t0002 a0030c0028t0001 others(1): Show a0004c0003t0001 a0004c0003t0002 a0030c0028t0001 a0031c0027t0003	a0004c0003t0001g0025 a0004c0003t0001g0026 a0004c0003t0001g0027 others(3): Show a0004c0003t0001g0025 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0002g0221 a0030c0028t0001g0024 a0031c0027t0003g0028	6	284	0.0211	100	c.385 others(115): Show c.385-151_385-150insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGA AAGAGAGAAAGAAAGAGAGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362799	T T	TTCTCTCT others(93): Show TTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTT CTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCT C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0002 a0013c0022t0002	a0013c0022t0002g0197 a0013c0022t0002g0197	1	284	0.0035	100	c.385 others(115): Show c.385-163_385-162insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGA AAGAGAGAAAGAAAGAGAGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP2B1_chr12_89583049_89713838	89677971	T T	TATATATA others(93): Show TATATATATATATATATATATATATATGTATATATATATATATATATATA TATATATGTATATATATATATATATATATGTATATATATATATATATACA C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0325 a0001c0001t0005g0325	1	332	0.0030	100	c.-22 others(121): Show c.-221-21865_-221-21864insGTGTATATATATATATATATACAT ATATATATATATATATATACATATATATATATATATATATATATATATAC ATATATATATATATATATATATATAT	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718635	C C	CGGATGTC others(93): Show CGGATGTCTGCGGAGGGAGACATCCGGAGAGGCATGGGGAGGAATGGGGA GGAATGGGGAGGAATGGGGAGGAATGGGGAGGAATGGGGAGGTGCCGCCA T	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18945.hp2 NA18957.hp2 others(5): Show HG00408.hp1 NA18945.hp2 NA18957.hp2 NA18980.hp1 NA18989.hp2 NA18990.hp1 NA19000.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0002c0016t0001 a0001c0001t0001 a0002c0016t0001	a0001c0001t0001g0052 a0001c0001t0001g0157 a0001c0001t0001g0159 others(5): Show a0001c0001t0001g0052 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0277 a0002c0016t0001g0284	8	376	0.0213	100	c.214 others(119): Show c.2140-2755_2140-2754insATGGCGGCACCTCCCCATTCCTCCCC ATTCCTCCCCATTCCTCCCCATTCCTCCCCATTCCTCCCCATGCCTCTCC GGATGTCTCCCTCCGCAGACATCC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V1B1_chr2_70930900_70970431	70937030	T T	TGCTCACT others(93): Show TGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCAAAGCCAGA GGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCAAAGCCAGA G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0278 a0002c0008t0002g0278	1	440	0.0023	100	c.118 others(117): Show c.118+1049_118+1050insAAGCCAGAGGCTCACTGGAGTAAACCAG CATGGCCCGCCACAGCTATGCAAAGCCAGAGGCTCACTGGAGTAAACCAG CATGGCCCGCCACAGCTATGCA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
AUTS2_chr7_69593475_70798506	70003479	A A	ATATATAT others(93): Show ATATATATAATATATATGAATATGTTATATATGAATATATATAATATATA TGAATATGTTATATATGAATATATATAATATATATGAATATGTTATATAT G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG03453.hp2 HG01243.hp2 HG02630.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0020 a0001c0007t0006 a0001c0001t0001 a0001c0001t0020 a0001c0007t0006	a0001c0001t0001g0030 a0001c0001t0020g0029 a0001c0007t0006g0027 a0001c0001t0001g0030 a0001c0001t0020g0029 a0001c0007t0006g0027	3	76	0.0395	100	c.522 others(121): Show c.522+104013_522+104014insAATATATATAATATATATGAATAT GTTATATATGAATATATATAATATATATGAATATGTTATATATGTATATA TAATATATATGAATATGTTATATATG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AZU1_chr19_822837_837018	829232	T T	TAAGGGAA others(93): Show TAAGGGAAGGGGCTCAGATGGAGGAGGTGCAGAGAAGGGGAGGGGGGTCA GATGGAGGAGGCTCAGAAAAGGGAAGGGGGTCAGATAGAGGAGGCGCAGA G	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0005 a0008c0016t0005	a0008c0016t0005g0044 a0008c0016t0005g0044	1	391	0.0026	100	c.216 others(115): Show c.216-285_216-284insGTCAGATGGAGGAGGCTCAGAAAAGGGAAG GGGGTCAGATAGAGGAGGCGCAGAGAAGGGAAGGGGCTCAGATGGAGGAG GTGCAGAGAAGGGGAGGGGG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	829234	A A	AGGGAAGG others(93): Show AGGGAAGGGGCTCAGATGGAGGAGGTGCAGAGAAGGGGAGGGGGTCAGAT GGAGGAGGCTCAGAAAAGGGAAGGGGGTCAGATAGAGGAGGCGCAGAGAA G	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	391	0.0026	100	c.216 others(115): Show c.216-265_216-264insAAAGGGAAGGGGGTCAGATAGAGGAGGCGC AGAGAAGGGGAAGGGGCTCAGATGGAGGAGGTGCAGAGAAGGGGAGGGGG TCAGATGGAGGAGGCTCAGA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
B4GALNT3_chr12_454939_568509	512078	A A	ACCTTCTT others(93): Show ACCTTCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTC CACCTTCCACCTTCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCC G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18984.hp2 NA18612.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0351 a0001c0001t0003g0350 a0001c0001t0001g0351 a0001c0001t0003g0350	2	394	0.0051	100	c.170 others(119): Show c.170-23083_170-23082insTTCCACCTTCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCC TTCCACCTTCCACCTTCCGCCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BANP_chr16_87946434_88082316	88000988	G G	GCGGCTGT others(93): Show GCGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCACGTGC GCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCACTTGC A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0084 a0001c0030t0001g0084	1	352	0.0028	100	c.363 others(117): Show c.363-3227_363-3128dupGTCTCCATGCACGCACTTGCACGGCTGT ACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGT ACTTACCTGTCCTTCCAGACAC	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88000988	G G	GCGGCTGT others(93): Show GCGGCTGTACTTACCAGGCCTTCCAGACATGTCTCCATGCACGCACGTGC GCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCACTTGC A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0116 a0001c0007t0001g0116	1	352	0.0028	100	c.363 others(117): Show c.363-3279_363-3278insTGTCTCCATGCACGCACGTGCGCGGCTG TACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCACTTGCACGGCTG TACTTACCAGGCCTTCCAGACA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88001084	T T	TTGCACGG others(93): Show TTGCACGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCAC GTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCAC G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02965.hp1 others(5): Show HG02615.hp2 HG02630.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0014 a0001c0007 a0001c0014	a0001c0007t0001 a0001c0014t0001 a0001c0007t0001 a0001c0014t0001	a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0001g0117 others(5): Show a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0001g0117 a0001c0007t0001g0118 a0001c0007t0001g0124 a0001c0007t0001g0339 a0001c0014t0001g0092 a0001c0014t0001g0095	8	352	0.0227	100	c.363 others(117): Show c.363-3128_363-3127insGTCTCCATGCACGCACGTGCACGGCTGT ACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGT ACTTACCTGTCCTTCCAGACAC	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88001127	C C	CACGCACG others(93): Show CACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATG CACGCACTTGCACGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCATG T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0162 a0001c0031t0001g0162	1	352	0.0028	100	c.363 others(117): Show c.363-3128_363-3127insGTCTCCATGCACGCACTTGCACGGCTGT ACTTACCAGGCCTTCCAGACACGTCTCCATGTACGCACGTGCGCGGCTGT ACTTACCTGTCCTTCCAGACAC	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BATF2_chr11_64982945_65001971	65000930	C C	CCCTTCCT others(93): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	404	0.0025	100	c.-40 others(111): Show c.-4017_-4016insAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGG	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		3960		chr11	TogoVar
BATF2_chr11_64982945_65001971	65000930	C C	CCCTTCCT others(93): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	404	0.0025	100	c.-40 others(111): Show c.-4017_-4016insAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGG	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		3960		chr11	TogoVar
BCL11A_chr2_60452194_60558654	60468025	A A	AGTGATGG others(93): Show AGTGATGGTGCTGGTGGTCATGGTACTTTGTGGTGATGGTGATGGTGATG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGATAATGGTGGT G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	262	0.0038	100	c.487 others(115): Show c.487+706_487+707insCACCACCATTATCACTACCACCACCACCAC CACCACCACCATCACCACCACCATCACCATCACCATCACCACAAAGTACC ATGACCACCAGCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BDKRB2_chr14_96199839_96249164	96216681	G G	GAGGAGGA others(93): Show GAGGAGGAGGAGGAAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGA GGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGG A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 NA19240.hp1 HG02145.hp1 HG02922.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0075 a0001c0001t0006g0296 a0001c0001t0006g0055 a0001c0001t0006g0075 a0001c0001t0006g0296	3	436	0.0069	100	c.-40 others(119): Show c.-40+11755_-40+11756insGGAGGAAGGAGGAGGAGGAAGGAGGA GGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGG AGGAAGGAGGAGGAAGGAGGAGGA	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BFSP2_chr3_133395056_133480208	133425953	G G	GGGGGAAG others(93): Show GGGGGAAGTGGAGGGGAGGGGGGAGGGGAGGGGAGGGAGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	276	0.0036	100	c.490 others(119): Show c.490-21359_490-21358insAGTGGAGGGGAGGGGGGAGGGGAGGG GAGGGAGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BLVRA_chr7_43753680_43812342	43758344	C C	CGGGGCCA others(93): Show CGGGGCCAGGCACACCGTGAGGGGGCCAGGCACACCGTGAGGGGGCCAGG CACACCGTGAGGGGGCCAGGCACACCGTGAGGGGGCCAGGCACACCGTGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01071.hp2 others(5): Show HG00642.hp2 HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0035 a0001c0002t0001g0036 others(1): Show a0001c0002t0001g0013 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0304	8	414	0.0193	100	c.-41 others(109): Show c.-412_-411insGGGGCCAGGCACACCGTGAGGGGGCCAGGCACACCG TGAGGGGGCCAGGCACACCGTGAGGGGGCCAGGCACACCGTGAGGGGGCC AGGCACACCGTGAG	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding		335		chr7	TogoVar
BMERB1_chr16_15429588_15593259	15591957	T T	TCTATCTA others(93): Show TCTATCTATATATAATATATAGATATATATCTATATATTATATATAGATA TATATCTATATATAATATATAGATAGATATCTATATATTATATATAGATA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	291	0.0034	100	c.51 others(111): Show c.5128_*5129insCTATCTATATATAATATATAGATATATATCTATA TATTATATATAGATATATATCTATATATAATATATAGATAGATATCTATA TATTATATATAGATAG	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3699		chr16	TogoVar
BRCA1_chr17_43039295_43130364	43100686	T T	TATAACAT others(93): Show TATAACATATATATATTATATATATATATAACATATATATAACATATATA TATATTATATATATATATAACATATATATAACATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0004 a0003c0018t0004	a0003c0018t0004g0111 a0003c0018t0004g0111	1	276	0.0036	100	c.442 others(115): Show c.442-807_442-806insTATATATATATATATATATGTTATATATAT GTTATATATATATATAATATATATATATGTTATATATATGTTATATATAT ATATAATATATATATGTTAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRF1_chr14_105204286_105306001	105236692	C C	CTGGCAGC others(93): Show CTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	72	0.0139	100	c.694 others(117): Show c.694+4572_694+4573insCTGTCCCCCGCCCCCAGCTGGGCGACTA CGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCC TGAGGGTGCCACGGGGCTGCCA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)