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
GRTP1_chr13_113319163_113369130	113346561	CAGGAGGA others(83): Show CAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTG ACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01261.hp2 HG01346.hp1 others(2): Show HG01069.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 others(2): Show a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0233 a0001c0001t0001g0261	5	288	0.0174	-90	c.466 others(107): Show c.466-1692_466-1603delAGGTCCGCTCTCAGCCACAGAGGTCCTC CCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCTGTTCTCGGCCAC AGAGGTCCTCCT		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346562	AGGAGGAC others(83): Show AGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGA CAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20905.hp2 HG02717.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0216 a0001c0001t0001g0229	2	288	0.0069	-90	c.466 others(107): Show c.466-1693_466-1604delCAGGTCCGCTCTCAGCCACAGAGGTCCT CCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCTGTTCTCGGCCA CAGAGGTCCTCC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346785	GCAAAGAG others(83): Show GCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAG GACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	288	0.0035	-90	c.466 others(107): Show c.466-1916_466-1827delGCACAGAGGTCCTCCCGGGTCTGCTCTT GTCCACAGAGGTCCTCCCGGGTCTGCTCTTGTCCACAGAGGTCCTCCCGG GTCTGCTCTTTG		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346829	CGGGAGGA others(83): Show CGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTG ACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	288	0.0035	-90	c.466 others(107): Show c.466-1960_466-1871delAGGTCCGCTCTCAGCCACAGAGGTCCTC CCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCTGCTCTTGTCCAC AGAGGTCCTCCC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346877	TGACAGTG others(83): Show TGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGA CCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02004.hp1 HG02965.hp1 others(2): Show HG01978.hp2 HG02004.hp1 HG02965.hp1 HG03516.hp1 HG03516.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0007c0005t0001	a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0002g0036 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0002g0036 a0001c0001t0003g0041 a0007c0005t0001g0251	5	288	0.0174	-90	c.466 others(107): Show c.466-2008_466-1919delTCTGCCACAGAGGTCCTCCCAGATCCGC TCAGCCACAGAGGTCCTCCCAGGTCCGCTCTCAGCCACAGAGGTCCTCCC GGGTCCACTGTC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347063	TCTGGGAG others(83): Show TCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGC AGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	288	0.0035	-90	c.466 others(107): Show c.466-2194_466-2105delGTCTGCTCTCTGCCACAGAGGTCCTCCC GGGTCTGCTCTCTGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAG AGGTCCTCCCAG		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347155	CGGGAGGA others(83): Show CGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGCCG AGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00544.hp2 others(18): Show HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG01081.hp1 HG01167.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG04199.hp2 HG06807.hp1 NA18939.hp2 NA18950.hp2 NA18966.hp2 NA19068.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(18): Show a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0233 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0002g0280	21	288	0.0729	-90	c.466 others(107): Show c.466-2286_466-2197delAGGTCCGCTCTCAGCCACAGAGGTCCTC CTGGGTCTGCTCTCGGCCACAGAGGTCCTCCTGGGTCTGCTCTCTGCCAC AGAGGTCCTCCC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347186	AGGAGGAC others(83): Show AGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGA GAGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	288	0.0035	-90	c.466 others(107): Show c.466-2317_466-2228delCGGGTCTGCTCTCAGCCACAGAGGTCCT CCCAGGTCCGCTCTCAGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCA CAGAGGTCCTCC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347266	GAGCAGAC others(83): Show GAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCT GTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02280.hp1 HG02451.hp1 HG01175.hp2 HG02280.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0023	3	288	0.0104	-90	c.466 others(107): Show c.466-2397_466-2308delTTCTTGGCCACAGAGGTCCTCCCGGGTC TGCTCTCTGCCACAGAGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCT CCCGGGTCTGCT		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347328	AGACCCGG others(83): Show AGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGA AGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01257.hp2 others(1): Show HG00280.hp1 HG01074.hp1 HG01257.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0209 a0001c0001t0001g0271	4	288	0.0139	-90	c.466 others(107): Show c.466-2459_466-2370delCACTGTCAGCCACAGAGGTCCTCCCGGG TCTGCTCTCGGCTTCAGAGGTCCTCCCGGATCTGTTCTTGGCCACAGAGG TCCTCCCGGGTC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347371	CCTCTGAA others(83): Show CCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTGGA CCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	288	0.0035	-90	c.466 others(107): Show c.466-2502_466-2413delATCCTCCTGGGTCTGCTCTCAGCCACAG AGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCCGGGTCTGCTC TCGGCTTCAGAG		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347589	TGAGAACA others(83): Show TGAGAACAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGA CCTCTGTGGCTGAGCAGATCTGGGAGGACCTCTGTGGCAGA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18970.hp1 NA19063.hp1 HG03209.hp1 NA18970.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0145 a0001c0001t0001g0221 a0001c0001t0003g0162 a0001c0001t0001g0145 a0001c0001t0001g0221 a0001c0001t0003g0162	3	288	0.0104	-90	c.466 others(107): Show c.466-2720_466-2631delTCTGCCACAGAGGTCCTCCCAGATCTGC TCAGCCACAGAGGTCCTCCCAGGTCCGCTCTCAGCCACAGAGGTCCTCCC GGGTCTGTTCTC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347851	TGGCCAAG others(83): Show TGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGG AGGACCTCTGTGGCCAAGAACGGACCTGGGAGGACCTCTGA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp2 HG02451.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0265 a0001c0001t0003g0266	2	288	0.0069	-90	c.465 others(107): Show c.465+2908_466-2893delTCAGAGGTCCTCCCAGGTCCGTTCTTGG CCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAGGTCCTCCCGGAT CTGTTCTTGGCC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113353105	ACCCAGCC others(83): Show ACCCAGCCCCACACTCTGGGTAGGAACCCACAGCTGAAAGCAGGGACCCA GCCCCACACTCTGGGTAGGAACCCACAGCTGAAAGCAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02145.hp2 HG02698.hp1 others(11): Show HG01081.hp2 HG02145.hp2 HG02698.hp1 HG03017.hp1 HG03209.hp2 HG03492.hp2 NA18939.hp1 NA18945.hp1 NA18966.hp1 NA18967.hp1 NA18982.hp2 NA19063.hp1 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0001g0139 a0001c0001t0001g0140 others(11): Show a0001c0001t0001g0031 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0009	14	288	0.0486	-90	c.340 others(107): Show c.340+2128_341-2133delCCCCTGCTTTCAGCTGTGGGTTCCTACC CAGAGTGTGGGGCTGGGTCCCTGCTTTCAGCTGTGGGTTCCTACCCAGAG TGTGGGGCTGGG		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	3/7						chr13	TogoVar
GSTM4_chr1_109651099_109666700	109654114	AAAGAAAG others(83): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02040.hp2 HG02055.hp2 others(7): Show HG00642.hp2 HG02040.hp2 HG02055.hp2 HG02257.hp2 HG02723.hp1 HG02886.hp1 HG06807.hp2 NA18522.hp2 NA18969.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0003 a0001c0002t0005	a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0008g0029 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0008g0029 a0001c0002t0003g0008 a0001c0002t0003g0028 a0001c0002t0003g0074 a0001c0002t0005g0017	10	364	0.0275	-90	c.-22 others(101): Show c.-2275_-2186delAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAA GAAAAG		GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding					1984		chr1	TogoVar
GUCY2C_chr12_14607632_14701599	14696951	ATATATAA others(83): Show ATATATAAAGTGTATATATATATATATATATATATATATAAAGTGTATAT ATATATATATATATATATATATATAAAGTGTATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	236	0.0042	-90	c.-59 others(99): Show c.-593_-504delATATATATATACACTTTATATATATATATATATATA TATATATATACACTTTATATATATATATATATATATATATATACACTTTA TATA		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding					353		chr12	TogoVar
H4C11_chr6_27819092_27829480	27826714	TGGCCGGG others(83): Show TGGCCGGGCAGAGGCACCCCTCACGGCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCCCCCGGACGGGGCGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	-90	c.22 others(101): Show c.2279_*2368delGGCCGGGCAGAGGCACCCCTCACGGCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCCCCCGGACGGG GCGGCC		H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding					2235		chr6	TogoVar
H4C12_chr6_27826174_27836560	27826714	TGGCCGGG others(83): Show TGGCCGGGCAGAGGCACCCCTCACGGCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCCCCCGGACGGGGCGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	-90	c.44 others(101): Show c.4412_*4501delGGCCGCCCCGTCCGGGGGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCATCCGGGCCGTGAGGGGTGCCTCTGC CCGGCC		H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding					4459		chr6	TogoVar
HADH_chr4_107984889_108040171	108038933	AGTCTCAG others(83): Show AGTCTCAGAAATTAAGCAGTTGGGCTACCTGGCAAAAAGACCAGTGCTGG GGCTCTGCACTCCACCCCACAGCTCCTCTGGAAGGTCTTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	304	0.0033	-90	c.45 others(101): Show c.4577_*4666delGTCTCAGAAATTAAGCAGTTGGGCTACCTGGCAA AAAGACCAGTGCTGGGGCTCTGCACTCCACCCCACAGCTCCTCTGGAAGG TCTTCC		HADH	ENSG00000138796.18	transcript	ENST00000309522.8	protein_coding					3763		chr4	TogoVar
HDAC4_chr2_239043168_239406020	239179016	TGTGCGAG others(83): Show TGTGCGAGGCAGCCACCGGACGCCTGAGGCATAGAGTGGGGTGTGCGTGC GAGGCAGCCACCGGACGCCCGAGGCATAGAGTGGGGAGTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0047 a0001c0015t0047	a0001c0015t0047g0037 a0001c0015t0047g0037	1	242	0.0041	-90	c.340 others(107): Show c.340-2543_340-2454delGCACTCCCCACTCTATGCCTCGGGCGTC CGGTGGCTGCCTCGCACGCACACCCCACTCTATGCCTCAGGCGTCCGGTG GCTGCCTCGCAC		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	4/26						chr2	TogoVar
HIP1_chr7_75528298_75743941	75663938	ATATATAT others(83): Show ATATATATATACACATATATGTGTATATATATATACACATATATGTGTAT ATATATACACATATATGTGTATATATATACACATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	254	0.0039	-90	c.121 others(109): Show c.121-64781_121-64692delCACATATATGTGTATATATATACACA TATATGTGTATATATATACACATATATGTGTATATATATATACACATATA TGTGTATATATATA		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30						chr7	TogoVar
HMOX1_chr22_35376096_35399207	35389340	TCTCCTTC others(83): Show TCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTA	T T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19009.hp2 NA18953.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0027 a0001c0001t0012g0024 a0001c0001t0001g0027 a0001c0001t0012g0024	2	384	0.0052	-90	c.637 others(105): Show c.637-523_637-434delCTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTA		HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4						chr22	TogoVar
HRC_chr19_49146198_49160396	49156879	CTCTCTCT others(83): Show CTCTCTCTGGGTCTCTGTCCTCCTCTCTCTCTGGGTCTCTGTTCCCCTCT CTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02486.hp2 HG02723.hp2	a0007 a0033 a0007 a0033	a0007c0006 a0033c0030 a0007c0006 a0033c0030	a0007c0006t0001 a0033c0030t0001 a0007c0006t0001 a0033c0030t0001	a0007c0006t0001g0005 a0033c0030t0001g0044 a0007c0006t0001g0005 a0033c0030t0001g0044	2	406	0.0049	-90	c.-17 others(101): Show c.-1732_-1643delCGGGGACAGAGACCCAGAGAGAGGGGGACAGAGA CCCAGAGAGAGGGGAACAGAGACCCAGAGAGAGAGGAGGACAGAGACCCA GAGAGA		HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding					1484		chr19	TogoVar
IL1RL1_chr2_102306563_102357037	102349251	AGCTATTG others(83): Show AGCTATTGACATACATTAGGGACAGAAATTCATGCTTATTAAAGGCTGTG AACTAGGTGGCCTTATCCCTGCATTGGATAATGAATTGCAT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03017.hp2 HG03017.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0067 a0013c0013t0001g0067	1	348	0.0029	-90	c.128 others(104): Show c.1285+6_1285+95delGCTATTGACATACATTAGGGACAGAAATTCA TGCTTATTAAAGGCTGTGAACTAGGTGGCCTTATCCCTGCATTGGATAAT GAATTGCAT		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding	10/10						chr2	TogoVar
IL3RA_chrX_1331785_1387689	1367212	AGCGGGGT others(83): Show AGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGCGCGG GGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0048 a0001c0001t0014g0048	1	115	0.0087	-90	c.874 others(107): Show c.874+1969_874+2058delAGCCGGGTGCGCGGGGTGCGCGGGGTGC GCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGG GTGCGCGGGGTG		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367248	CGCCGGGT others(83): Show CGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGG GGTGCGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01433.hp2 HG02257.hp1 others(5): Show HG01256.hp2 HG01433.hp2 HG02257.hp1 HG03209.hp1 NA18906.hp1 NA18951.hp1 NA19080.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0026 a0001c0001t0001g0103 a0001c0001t0002g0069 others(5): Show a0001c0001t0001g0026 a0001c0001t0001g0103 a0001c0001t0002g0069 a0001c0001t0003g0009 a0001c0001t0003g0083 a0001c0001t0003g0107 a0001c0001t0004g0062 a0001c0001t0010g0039	8	115	0.0696	-90	c.874 others(107): Show c.874+1999_874+2088delCGGGTGCGCGGGGTGAGCCGGGTGCGCG GGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCCGGGTG CGCGGGGTGAGC		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
INCENP_chr11_62119011_62158169	62122832	CCCGGCCA others(83): Show CCCGGCCAGAGATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0023 a0025 a0026 a0028 a0029 a0030	a0001c0001 a0001c0006 a0001c0007 others(31): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0018 a0001c0024 a0001c0025 a0001c0026 a0001c0044 a0002c0002 a0002c0020 a0003c0003 a0004c0004 a0004c0021 a0005c0005 a0006c0009 a0006c0022 a0007c0012 a0009c0013 a0010c0016 a0011c0015 a0012c0014 a0014c0017 a0015c0028 a0015c0033 a0016c0035 a0016c0045 a0023c0023 a0025c0034 a0026c0039 a0028c0037 a0029c0036 a0030c0046	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(37): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0006 a0001c0008t0001 a0001c0010t0001 a0001c0010t0005 a0001c0018t0004 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0044t0001 a0002c0002t0001 a0002c0020t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0010 a0004c0004t0002 a0004c0004t0003 a0004c0021t0003 a0005c0005t0001 a0005c0005t0011 a0006c0009t0004 a0006c0022t0004 a0007c0012t0001 a0009c0013t0001 a0010c0016t0005 a0011c0015t0001 a0012c0014t0001 a0014c0017t0001 a0015c0028t0001 a0015c0033t0001 a0016c0035t0009 a0016c0045t0005 a0023c0023t0001 a0025c0034t0001 a0026c0039t0001 a0028c0037t0001 a0029c0036t0001 a0030c0046t0007	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0014 others(131): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0006t0001g0005 a0001c0007t0001g0002 a0001c0007t0001g0016 a0001c0007t0001g0040 a0001c0007t0006g0002 a0001c0007t0006g0118 a0001c0008t0001g0044 a0001c0008t0001g0143 a0001c0010t0001g0056 a0001c0010t0001g0057 a0001c0010t0001g0058 a0001c0010t0005g0026 a0001c0010t0005g0055 a0001c0018t0004g0050 a0001c0024t0001g0053 a0001c0025t0001g0077 a0001c0026t0001g0128 a0001c0044t0001g0177 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0020t0001g0164 a0002c0020t0001g0166 a0003c0003t0002g0003 a0003c0003t0002g0007 a0003c0003t0002g0019 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0120 a0003c0003t0002g0140 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0161 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0165 a0003c0003t0002g0167 a0003c0003t0002g0168 a0003c0003t0002g0169 a0003c0003t0002g0171 a0003c0003t0003g0012 a0003c0003t0003g0046 a0003c0003t0010g0047 a0004c0004t0002g0019 a0004c0004t0002g0151 a0004c0004t0002g0156 a0004c0004t0002g0157 a0004c0004t0003g0012 a0004c0004t0003g0017 a0004c0004t0003g0018 a0004c0004t0003g0036 a0004c0004t0003g0045 a0004c0004t0003g0046 a0004c0004t0003g0117 a0004c0004t0003g0119 a0004c0004t0003g0144 a0004c0004t0003g0145 a0004c0004t0003g0147 a0004c0004t0003g0148 a0004c0004t0003g0149 a0004c0004t0003g0152 a0004c0004t0003g0154 a0004c0004t0003g0158 a0004c0004t0003g0170 a0004c0021t0003g0012 a0004c0021t0003g0153 a0005c0005t0001g0006 a0005c0005t0001g0034 a0005c0005t0001g0113 a0005c0005t0011g0006 a0006c0009t0004g0008 a0006c0009t0004g0051 a0006c0009t0004g0184 a0006c0022t0004g0008 a0006c0022t0004g0185 a0007c0012t0001g0023 a0007c0012t0001g0176 a0009c0013t0001g0180 a0010c0016t0005g0024 a0010c0016t0005g0054 a0011c0015t0001g0025 a0011c0015t0001g0155 a0012c0014t0001g0049 a0012c0014t0001g0175 a0014c0017t0001g0020 a0015c0028t0001g0150 a0015c0033t0001g0044 a0016c0035t0009g0183 a0016c0045t0005g0059 a0023c0023t0001g0005 a0025c0034t0001g0112 a0026c0039t0001g0146 a0028c0037t0001g0174 a0029c0036t0001g0181 a0030c0046t0007g0182	241	358	0.6732	-90	c.-13 others(101): Show c.-1342_-1253delCCGGCCAGAGATTCTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCG		INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding					1178		chr11	TogoVar
IQSEC3_chr12_61767_183455	143581	AGTTCATG others(83): Show AGTTCATGCAGGGCAGTGCTGGGGTGCCAGAGTTCATGCAGGGCAGTGCT GGGGTGCCAGCGTTCATGCAGGGCAGTGCTGGGGTGCCAGC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0056 a0001c0041t0056	a0001c0041t0056g0072 a0001c0041t0056g0072	1	282	0.0036	-90	c.215 others(109): Show c.2153+2326_2153+2415delAGTTCATGCAGGGCAGTGCTGGGGTG CCAGCGTTCATGCAGGGCAGTGCTGGGGTGCCAGCGTTCATGCAGGGCAG TGCTGGGGTGCCAG		IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
ITPR1_chr3_4488348_4852506	4619607	TCTGCCCT others(83): Show TCTGCCCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCC CCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02723.hp2 NA19240.hp2 HG01081.hp2 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0059 a0001c0073 a0001c0002 a0001c0059 a0001c0073	a0001c0002t0006 a0001c0059t0011 a0001c0073t0001 a0001c0002t0006 a0001c0059t0011 a0001c0073t0001	a0001c0002t0006g0075 a0001c0059t0011g0094 a0001c0073t0001g0128 a0001c0002t0006g0075 a0001c0059t0011g0094 a0001c0073t0001g0128	3	176	0.0171	-90	c.164 others(107): Show c.164-8151_164-8062delCCTCCCCTGCTCTCCTCTGCTCTCCCCT GCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCT GCTCTCCCCTGC		ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITSN2_chr2_24197864_24365536	24251379	GTATGTGT others(83): Show GTATGTGTATATATATGTGTATATATATATGTGTGTATATATATGTGTAT ATATATGTGTGTATATATATGTGTATATATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	224	0.0045	-90	c.312 others(107): Show c.3120+876_3120+965delTATATATACACATATATACACATATATA TACACACATATATATACACATATATATACACACATATATATATACACATA TATATACACATA		ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39						chr2	TogoVar
KBTBD11_chr8_1968677_2011936	2009680	GCCCCCAC others(83): Show GCCCCCACCCCAGGGTGTCAGATGCACTCAGCCCCACCTCAGGGTATCAG CTGCACTCAGCCCCAACCCCAGGGGGTCAGATGCACTCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG01943.hp2 others(1): Show HG01106.hp2 HG01192.hp1 HG01943.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0058 a0001c0001t0007g0272 a0001c0001t0007g0273 others(1): Show a0001c0001t0003g0058 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0275	4	389	0.0103	-90	c.66 others(101): Show c.6617_*6706delCCCCCACCCCAGGGTGTCAGATGCACTCAGCCCC ACCTCAGGGTATCAGCTGCACTCAGCCCCAACCCCAGGGGGTCAGATGCA CTCAGC		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					2745		chr8	TogoVar
KCNIP4_chr4_20723606_21953772	21519496	GTATGTGT others(83): Show GTATGTGTATGTGTATATACACATATGTGTGTATGTGTATGTGTATATAC ACATATGTGTGTATGTGTATATATACACATATGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0077 a0001c0001t0014g0077	1	80	0.0125	-90	c.61+ others(109): Show c.61+428985_61+429074delTACACACACATATGTGTATATATACA CATACACACATATGTGTATATACACATACACATACACACATATGTGTATA TACACATACACATA		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178757277	CATATATC others(83): Show CATATATCCAAGAGGATATATATATATATATCCATCCAAGAGGACATATA TATATGTATATATATCCAAGAGGATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	232	0.0043	-90	c.-67 others(109): Show c.-67-50039_-67-49950delATATCCATCCAAGAGGACATATATAT ATGTATATATATCCAAGAGGATATATATATATATATATATATATCCAAGA GGATATATATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178760002	ATATATAT others(83): Show ATATATATCCAAGAGGATATATCTATATATATATATATATATATCCAAGA GGATATATCTATATATATATATATAGCCAAGAGGATATATC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	232	0.0043	-90	c.-67 others(109): Show c.-67-47333_-67-47244delCCAAGAGGATATATCTATATATATAT ATATATATATCCAAGAGGATATATCTATATATATATATATAGCCAAGAGG ATATATCTATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63431971	GCCCCACC others(83): Show GCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGG GAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18522.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0080 a0001c0002t0012 a0001c0002t0080	a0001c0002t0012g0037 a0001c0002t0080g0236 a0001c0002t0012g0037 a0001c0002t0080g0236	2	330	0.0061	-90	c.111 others(107): Show c.1119-692_1119-603delTCTTCCCTGTGGGTGGATCCTTCCCTGA GGGTGGAGCCTTCCCTGTGGATGGGGCCTTCCCTGAGGGTGGGGCCTTCC CTGCGGGTGGGG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432512	ATCCACCC others(83): Show ATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGG AAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00673.hp2 others(18): Show HG00423.hp1 HG00609.hp1 HG00673.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02083.hp1 HG02135.hp1 NA18944.hp2 NA18946.hp2 NA18970.hp2 NA18971.hp1 NA18999.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp2 NA19064.hp2 NA19081.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0006 a0001c0002 a0001c0003 a0002c0006	a0001c0002t0010 a0001c0003t0003 a0001c0003t0010 others(4): Show a0001c0002t0010 a0001c0003t0003 a0001c0003t0010 a0001c0003t0017 a0001c0003t0106 a0002c0006t0016 a0002c0006t0037	a0001c0002t0010g0191 a0001c0003t0003g0278 a0001c0003t0003g0282 others(18): Show a0001c0002t0010g0191 a0001c0003t0003g0278 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0286 a0001c0003t0003g0288 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0010g0178 a0001c0003t0010g0208 a0001c0003t0010g0253 a0001c0003t0017g0313 a0001c0003t0017g0319 a0001c0003t0017g0320 a0001c0003t0017g0321 a0001c0003t0017g0322 a0001c0003t0106g0311 a0002c0006t0016g0270 a0002c0006t0037g0269 a0002c0006t0037g0271	21	330	0.0636	-90	c.111 others(109): Show c.1118+1207_1119-1144delGCCTTCCCTGTGGGTGGATCCTTCCC TGAGGGTGGAGCCTTCCCTGAGGGTGGGGCCTTCCCAGAGGGTGGAGCCT TCCCTGTGGGTGGA		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KHSRP_chr19_6408102_6429811	6429054	TATATGTT others(83): Show TATATGTTATATATATATATAATATATATATTATATATATGTTACATATA TATATAATATATATATTATATATATGTTATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02004.hp2 HG02257.hp2 others(5): Show HG01884.hp1 HG02004.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG03471.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0075 others(1): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0075 a0001c0001t0076	a0001c0001t0017g0141 a0001c0001t0018g0035 a0001c0001t0018g0038 others(3): Show a0001c0001t0017g0141 a0001c0001t0018g0035 a0001c0001t0018g0038 a0001c0001t0018g0144 a0001c0001t0075g0142 a0001c0001t0076g0107	8	386	0.0207	-90	c.-44 others(101): Show c.-4443_-4354delTATATATATATATAACATATATATAATATATATA TTATATATATATGTAACATATATATAATATATATATTATATATATATATA ACATAT		KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding					4244		chr19	TogoVar
KIF1A_chr2_240708767_240825219	240779370	TCACTCAG others(83): Show TCACTCAGTTCCTCATAGTTCCACACTCAGTTCCTCATCGTTCCACACTC AGGTCCTCACTCACTTCCTCACTCAGCTCCTCATAGTTCCA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0004 a0001c0023t0004	a0001c0023t0004g0159 a0001c0023t0004g0159	1	330	0.0030	-90	c.882 others(107): Show c.882+3130_882+3219delTGGAACTATGAGGAGCTGAGTGAGGAAG TGAGTGAGGACCTGAGTGTGGAACGATGAGGAACTGAGTGTGGAACTATG AGGAACTGAGTG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48						chr2	TogoVar
KIF4A_chrX_70285104_70425886	70373685	TATATATA others(83): Show TATATATACGTATATATATACACATATACGTGTATATATATACGTATATA TATACATATATACGTGTATATATATATATACGTATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18961.hp1 NA18950.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0163 a0001c0001t0001g0100 a0001c0001t0001g0163	2	259	0.0077	-90	c.167 others(107): Show c.1675-464_1675-375delTATATACGTATATATATACACATATACG TGTATATATATACGTATATATATACATATATACGTGTATATATATATATA CGTATATATACA		KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30					INFO_REALIGN_3_PRIME	chrX	TogoVar
KNDC1_chr10_133155219_133231412	133222460	TGTGAGAG others(83): Show TGTGAGAGCCCATCCAGGCATGCTCTTCCCGGTGTGTGTGTGTGTGTGTG AGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0211 a0001c0004t0002g0211	1	332	0.0030	-90	c.501 others(109): Show c.5019-2197_5019-2108delTGAGAGCCCATCCAGGCATGCTCTTC CCGGTGTGTGTGTGTGTGTGTGAGCCCATCCAGGCATGCTCTTCCCGGCG TGTGTGTGTGTGAG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133223415	GTGTGTGT others(83): Show GTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCATGTGTGTGTGT GAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(132): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0013 a0014 a0016 a0017 a0020 a0022 a0024 a0025 a0026 a0027 a0029	a0001c0001 a0001c0004 a0001c0068 others(35): Show a0001c0001 a0001c0004 a0001c0068 a0002c0002 a0002c0005 a0002c0006 a0002c0022 a0002c0041 a0002c0043 a0002c0058 a0002c0061 a0003c0015 a0003c0032 a0003c0049 a0004c0007 a0004c0024 a0004c0028 a0004c0063 a0005c0012 a0005c0021 a0005c0048 a0005c0065 a0007c0009 a0009c0013 a0011c0051 a0013c0023 a0013c0060 a0014c0066 a0014c0067 a0016c0029 a0017c0057 a0020c0055 a0022c0030 a0024c0059 a0025c0062 a0026c0042 a0027c0046 a0029c0069	a0001c0001t0002 a0001c0004t0002 a0001c0068t0002 others(40): Show a0001c0001t0002 a0001c0004t0002 a0001c0068t0002 a0002c0002t0002 a0002c0002t0014 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0005t0002 a0002c0006t0004 a0002c0006t0010 a0002c0022t0002 a0002c0041t0004 a0002c0043t0002 a0002c0058t0002 a0002c0061t0002 a0003c0015t0002 a0003c0032t0010 a0003c0049t0002 a0004c0007t0002 a0004c0024t0004 a0004c0028t0002 a0004c0063t0002 a0005c0012t0002 a0005c0021t0004 a0005c0048t0002 a0005c0065t0002 a0007c0009t0002 a0009c0013t0002 a0011c0051t0002 a0013c0023t0004 a0013c0060t0002 a0014c0066t0002 a0014c0067t0002 a0016c0029t0002 a0017c0057t0002 a0020c0055t0002 a0022c0030t0010 a0024c0059t0002 a0025c0062t0002 a0026c0042t0004 a0027c0046t0002 a0029c0069t0002	a0001c0001t0002g0081 a0001c0001t0002g0193 a0001c0001t0002g0205 others(130): Show a0001c0001t0002g0081 a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0001t0002g0247 a0001c0004t0002g0211 a0001c0068t0002g0114 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0106 a0002c0002t0002g0115 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0128 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0002t0014g0145 a0002c0002t0017g0090 a0002c0002t0018g0037 a0002c0002t0025g0028 a0002c0005t0002g0025 a0002c0005t0002g0070 a0002c0005t0002g0103 a0002c0005t0002g0110 a0002c0005t0002g0116 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0214 a0002c0005t0002g0216 a0002c0005t0002g0226 a0002c0006t0004g0280 a0002c0006t0004g0282 a0002c0006t0004g0287 a0002c0006t0004g0288 a0002c0006t0004g0294 a0002c0006t0004g0295 a0002c0006t0004g0298 a0002c0006t0004g0311 a0002c0006t0010g0315 a0002c0022t0002g0096 a0002c0041t0004g0274 a0002c0043t0002g0062 a0002c0058t0002g0003 a0002c0061t0002g0061 a0003c0015t0002g0237 a0003c0015t0002g0238 a0003c0032t0010g0308 a0003c0049t0002g0023 a0004c0007t0002g0053 a0004c0007t0002g0054 a0004c0007t0002g0063 a0004c0007t0002g0067 a0004c0007t0002g0068 a0004c0007t0002g0077 a0004c0007t0002g0078 a0004c0007t0002g0179 a0004c0024t0004g0010 a0004c0028t0002g0134 a0004c0028t0002g0137 a0004c0063t0002g0027 a0005c0012t0002g0026 a0005c0012t0002g0030 a0005c0012t0002g0031 a0005c0012t0002g0051 a0005c0012t0002g0156 a0005c0012t0002g0251 a0005c0012t0002g0254 a0005c0021t0004g0286 a0005c0021t0004g0289 a0005c0048t0002g0173 a0005c0065t0002g0040 a0007c0009t0002g0131 a0009c0013t0002g0229 a0009c0013t0002g0230 a0009c0013t0002g0231 a0009c0013t0002g0232 a0009c0013t0002g0233 a0009c0013t0002g0234 a0009c0013t0002g0235 a0011c0051t0002g0024 a0013c0023t0004g0305 a0013c0060t0002g0086 a0014c0066t0002g0111 a0014c0067t0002g0015 a0016c0029t0002g0150 a0017c0057t0002g0074 a0020c0055t0002g0241 a0022c0030t0010g0309 a0024c0059t0002g0008 a0025c0062t0002g0042 a0026c0042t0004g0281 a0027c0046t0002g0098 a0029c0069t0002g0170	135	332	0.4066	-90	c.501 others(109): Show c.5019-1206_5019-1117delATGTGTGTGTGTGAGAGCCCATCCAG GCATGCTCTTCCCGGCGTGTGTGTGCATGTGTGTGAGAGCCCATCCAGGC ATGCTCTTCCCGGC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KRTAP2-1_chr17_41041541_41052316	41046788	TGCTCAGC others(83): Show TGCTCAGCAGGAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGC CGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0000 a0001c0001t0013g0000	1	407	0.0025	-90	c.3_ others(96): Show c.3_*92delCACCACCTGCTGCCAGCCTGTGTCTGTGCAGTCCCCCTG CGGCCAGCCGACCCCTTGCAGCACCACCTGCAGGACCTCCTCCTGCTGAG C		KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding	1/1				3		chr17	TogoVar
KRTAP21-2_chr21_30741794_30752259	30743531	TATATATA others(83): Show TATATATACGTATATATATACGTATATATACACGAATATATATACGTATA TATACGAATATATACGTATATATATACGAATATATACGAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18978.hp1 NA19006.hp1 NA18946.hp2 NA18978.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	3	380	0.0079	-90	c.33 others(101): Show c.3330_*3419delGTTCGTATATATTCGTATATATATACGTATATAT TCGTATATATACGTATATATATTCGTGTATATATACGTATATATATACGT ATATAT		KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding					3262		chr21	TogoVar
KRTAP4-3_chr17_41162231_41173221	41167852	AGAAATGC others(83): Show AGAAATGCAGCAGCTGGGGCGGCAGCAGGTGGTCCTGCAGCAGCTGGGTT TGCAGCAGCTGGAGATACAGCAGGAAGGCCTGCAGCAACTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(169): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18967.hp1 NA18968.hp2 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0000 a0001c0009t0001g0000 a0001c0001t0001g0000 a0001c0009t0001g0000	172	410	0.4195	-90	c.231 others(97): Show c.231_320delCAGTTGCTGCAGGCCTTCCTGCTGTATCTCCAGCTGCT GCAAACCCAGCTGCTGCAGGACCACCTGCTGCCGCCCCAGCTGCTGCATT TC	p.Ser others(12): Show p.Ser78_Ser107del	KRTAP4-3	ENSG00000196156.5	transcript	ENST00000391356.4	protein_coding	1/1	369/991	231/588	77/195			chr17	TogoVar
LARP1_chr5_154750377_154822605	154805312	TAGCAGGC others(83): Show TAGCAGGCTGAGAAGGAGGGGTTGGTCTTGCTCTCTCGAGTGGCAAAGGG GAATCATCATAAAGGTCCTCATCCTCATGGTCTTCACATTG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	304	0.0033	-90	c.254 others(107): Show c.2547-537_2547-448delCTCTCGAGTGGCAAAGGGGAATCATCAT AAAGGTCCTCATCCTCATGGTCTTCACATTGAGCAGGCTGAGAAGGAGGG GTTGGTCTTGCT		LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
LAT2_chr7_74205006_74234834	74214471	AATATATA others(83): Show AATATATATATATGAAAATATATATATAAATATATATATATGAAAATATA TATAAATATATATATGAATATATATATATATATATGAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	344	0.0029	-90	c.-21 others(107): Show c.-218-340_-218-251delATGAAAATATATATATAAATATATATAT ATGAAAATATATATAAATATATATATGAATATATATATATATATATGAAA ATATATATATAT		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LMF2_chr22_50497949_50512702	50507735	CCCCAGGC others(83): Show CCCCAGGCCCCGCCTCCTCACCGCCCCGCCCGCCCAATCCGTGGCAGCCC CAAGCCCCGCCTCCTCGGCCCGCCCGCCCGCCCGCGGCAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02165.hp1 others(8): Show HG01167.hp2 HG01169.hp1 HG02165.hp1 HG02647.hp2 HG02922.hp1 HG03098.hp2 HG03669.hp2 HG04184.hp2 NA19005.hp2 NA19030.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0002c0008 others(1): Show a0001c0002 a0001c0009 a0002c0008 a0002c0022	a0001c0002t0001 a0001c0009t0001 a0002c0008t0001 others(2): Show a0001c0002t0001 a0001c0009t0001 a0002c0008t0001 a0002c0008t0002 a0002c0022t0004	a0001c0002t0001g0316 a0001c0009t0001g0183 a0002c0008t0001g0022 others(5): Show a0001c0002t0001g0316 a0001c0009t0001g0183 a0002c0008t0001g0022 a0002c0008t0001g0193 a0002c0008t0002g0016 a0002c0008t0002g0017 a0002c0008t0002g0039 a0002c0022t0004g0038	11	414	0.0266	-90	c.-15 others(98): Show c.-150_-61delACTGCCGCGGGCGGGCGGGCGGGCCGAGGAGGCGGGG CTTGGGGCTGCCACGGATTGGGCGGGCGGGGCGGTGAGGAGGCGGGGCCT GGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding					34		chr22	TogoVar
LORICRIN_chr1_153254687_153267124	153261270	TGGGGGCG others(83): Show TGGGGGCGGCTCCGGCTGCTTCTCCTCCGGTGGCGGCGGCTCCTCCGGGG GCGGCTCCGGCTGCTTCTCCAGCGGTGGGGGCGGCTCCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01361.hp1 HG01361.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0001 a0008c0017t0001g0001	1	422	0.0024	-90	c.351 others(97): Show c.351_440delTGGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCT CCAGCGGTGGGGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCTCC GG	p.Gly others(13): Show p.Gly118_Gly147del	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding	2/2	421/1245	351/939	117/312		INFO_REALIGN_3_PRIME	chr1	TogoVar
LPCAT1_chr5_1456427_1528960	1459036	GTGTACAT others(83): Show GTGTACATGTGTAAGCCTCAGCATGAGTGCATGTGAGCATGTGTGTACAT GTGTAAGCCTCAGCATGAGTGCATGTGAGCATGTGTGTACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	386	0.0026	-90	c.45 others(101): Show c.4525_*4614delTGTACACACATGCTCACATGCACTCATGCTGAGG CTTACACATGTACACACATGCTCACATGCACTCATGCTGAGGCTTACACA TGTACA		LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding					2390		chr5	TogoVar
LRBA_chr4_150259435_151020284	150639736	AATATATA others(83): Show AATATATATATATATATATATATATATATATATATATATATATATATGTG TGTGTGTATATATATATATATGTGTGTGTGTGTGTATATAT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19091.hp1 NA18970.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0082 a0001c0001t0001g0097	2	180	0.0111	-90	c.592 others(111): Show c.5922-40695_5922-40606delATATATACACACACACACACATAT ATATATATATACACACACACATATATATATATATATATATATATATATAT ATATATATATATATAT		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56						chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)