Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HOOK1_chr1_59809949_59881322	59846585	T T	TCCTCCCT others(17): Show TCCTCCCTTCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0194 a0001c0001t0013g0194	1	252	0.0040	24	c.789 others(39): Show c.789-453_789-452insTCCTCCCTCCCTCCCTCCCTCCCT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
HOOK1_chr1_59809949_59881322	59846585	T T	TCCTTCCT others(17): Show TCCTTCCTTCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA20129.hp2 HG00099.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0007 a0001c0001t0012 a0001c0003t0007	a0001c0001t0012g0202 a0001c0003t0007g0217 a0001c0001t0012g0202 a0001c0003t0007g0217	2	252	0.0079	24	c.789 others(39): Show c.789-457_789-456insTCCTTCCTCCCTCCCTCCCTCCCT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
HOOK1_chr1_59809949_59881322	59846585	T T	TCCTTCCT others(17): Show TCCTTCCTTCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19087.hp2 NA18947.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0058 a0001c0001t0001 a0001c0001t0058	a0001c0001t0001g0081 a0001c0001t0058g0201 a0001c0001t0001g0081 a0001c0001t0058g0201	2	252	0.0079	24	c.789 others(39): Show c.789-457_789-456insTCCTTCCTTCCTCCCTCCCTCCCT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
HOPX_chr4_56642998_56686296	56685880	A A	ATGTATTA others(17): Show ATGTATTATATATAATGTATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	376	0.0053	24	c.-47 others(35): Show c.-4710_-4709insATATAATACATTATATATAATACA	HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding		4585		chr4	TogoVar
HORMAD1_chr1_150693060_150725895	150693797	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 NA19043.hp2 HG02109.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	392	0.0051	24	c.48 others(35): Show c.4856_*4857insCACACACACACACACACACACACA	HORMAD1	ENSG00000143452.16	transcript	ENST00000361824.7	protein_coding		4262		chr1	TogoVar
HORMAD2_chr22_30075464_30182075	30088037	G G	GTATACAT others(17): Show GTATACATATGTACACACGTATACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00597.hp2 others(122): Show HG00280.hp1 HG00423.hp1 HG00597.hp2 HG00642.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18990.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19075.hp1 NA19077.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0004c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(122): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0004g0158 a0001c0001t0004g0159 a0004c0003t0001g0008	125	350	0.3571	24	c.-37 others(41): Show c.-37-5873_-37-5872insTATGTACACACGTATACATATACA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30088118	C C	CACACACA others(17): Show CACACACACACACATGTGTACATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02056.hp1 HG01069.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	350	0.0057	24	c.-37 others(41): Show c.-37-5792_-37-5791insACACACATGTGTACATATACACAC	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30088118	C C	CACACACA others(17): Show CACACACATACACATGTGTACATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	350	0.0029	24	c.-37 others(41): Show c.-37-5792_-37-5791insATACACATGTGTACATATACACAC	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30125216	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19086.hp2 NA18959.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0039 a0001c0001t0002g0028 a0001c0001t0002g0039	2	350	0.0057	24	c.819 others(41): Show c.819+3005_819+3028dupTTTTTTTTTTTTTTTTTTTTTTTT	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30158595	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCCTCCCTCCCTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp1 HG03209.hp1 others(2): Show HG02145.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 others(2): Show a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0004g0158 a0001c0001t0004g0159	5	350	0.0143	24	c.820 others(43): Show c.820-17465_820-17464insTTCCTTCCCTCCCTCCCTTTGTCC	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXA10_chr7_27165605_27179320	27169093	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02602.hp2 NA19056.hp1 HG01255.hp1 HG02602.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0001g0001 a0001c0001t0003g0003	3	436	0.0069	24	c.27 others(35): Show c.2782_*2805dupACACACACACACACACACACACAC	HOXA10	ENSG00000253293.6	transcript	ENST00000283921.5	protein_coding		1511		chr7	TogoVar
HOXA13_chr7_27189364_27205091	27202822	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01952.hp1 others(5): Show HG00741.hp1 HG01167.hp2 HG01952.hp1 HG01978.hp1 HG03041.hp2 HG03209.hp2 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0001t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0005t0001g0016 a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0005t0001g0016	8	416	0.0192	24	c.-27 others(35): Show c.-2746_-2745insTTTTTTTTTTTTTTTTTTTTTTTT	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding		2732		chr7	TogoVar
HOXA3_chr7_27102010_27157583	27111485	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	326	0.0031	24	c.-12 others(41): Show c.-120-749_-120-726dupACACACACACACACACACACACAC	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG02965.hp1 others(3): Show HG00140.hp2 HG00558.hp1 HG02965.hp1 NA18957.hp2 NA18980.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0028 a0001c0001t0002 a0001c0001t0015 a0001c0001t0028	a0001c0001t0002g0189 a0001c0001t0002g0245 a0001c0001t0002g0246 others(3): Show a0001c0001t0002g0189 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0015g0307 a0001c0001t0028g0239	6	326	0.0184	24	c.-39 others(39): Show c.-390+58_-390+81dupCTCTCTCTCTCTCTCTCTCTCTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG02965.hp2 others(3): Show HG00140.hp1 HG00558.hp1 HG02965.hp2 NA18957.hp2 NA18980.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0003 a0001c0001t0005g0005 a0001c0001t0003g0003 a0001c0001t0005g0005	6	398	0.0151	24	c.18 others(35): Show c.1810_*1833dupCTCTCTCTCTCTCTCTCTCTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXA9_chr7_27157438_27170537	27169093	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02602.hp2 NA19056.hp1 HG01255.hp2 HG02602.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0004 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0004	3	432	0.0069	24	c.-36 others(35): Show c.-3660_-3637dupACACACACACACACACACACACAC	HOXA9	ENSG00000078399.19	transcript	ENST00000343483.7	protein_coding		3557		chr7	TogoVar
HOXB13_chr17_48719763_48733750	48725283	C C	CCTGAACC others(17): Show CCTGAACCCCCAGTCCGCATGCACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19070.hp2 NA19084.hp2 NA19070.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0018 a0001c0001t0009g0018	2	426	0.0047	24	c.14 others(35): Show c.1483_*1506dupAGTGCATGCGGACTGGGGGTTCAG	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding	2/2	1506		chr17	TogoVar
HOXB1_chr17_48523526_48536011	48528163	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	2	426	0.0047	24	c.13 others(35): Show c.1383_*1384insTTTTTTTTTTTTTTTTTTTTTTTT	HOXB1	ENSG00000120094.9	transcript	ENST00000239174.7	protein_coding		362		chr17	TogoVar
HOXB3_chr17_48543870_48595241	48561183	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02027.hp1 NA19002.hp2 others(1): Show HG01192.hp1 HG02027.hp1 NA19002.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0003g0009 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0003g0009	4	374	0.0107	24	c.-24 others(43): Show c.-246-5589_-246-5566dupGTGTGTGTGTGTGTGTGTGTGTGT	HOXB3	ENSG00000120093.12	transcript	ENST00000498678.6	protein_coding	2/4			chr17	TogoVar
HOXC4_chr12_54048835_54061030	54058950	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00642.hp1 others(8): Show HG00423.hp1 HG00609.hp2 HG00642.hp1 HG02080.hp2 HG03834.hp1 NA18522.hp1 NA18948.hp2 NA18954.hp1 NA19066.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0004 a0001c0001t0002 a0001c0001t0004 a0002c0002t0004	a0001c0001t0002g0001 a0001c0001t0004g0001 a0002c0002t0004g0001 a0001c0001t0002g0001 a0001c0001t0004g0001 a0002c0002t0004g0001	11	400	0.0275	24	c.37 others(35): Show c.3745_*3746insGTGTGTGTGTGTGTGTGTGTGTGT	HOXC4	ENSG00000198353.8	transcript	ENST00000430889.3	protein_coding		2921		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54009029	G G	GCCGCCGC others(17): Show GCCGCCGCCGCCGCCCGCTCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0001 a0001c0001t0044g0001	1	306	0.0033	24	c.-24 others(33): Show c.-242_-241insCGCTCGCCGCCCGCCGCCGCCGCC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding	1/2	241	INFO_REALIGN_3_PRIME	chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(17): Show TTCTCTTCTCTTCTTTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	306	0.0033	24	c.26 others(35): Show c.2619_*2620insTCTCTTCTCTTCTTTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014004	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	24	c.26 others(35): Show c.2623_*2624insTCTCTCTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1236		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014033	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	306	0.0033	24	c.26 others(35): Show c.2652_*2653insCTCTCTCTCTCTCTCTCTCTCTCC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1265		chr12	TogoVar
HOXD10_chr2_176111778_176124937	176119435	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0002 a0001c0001t0054g0002	1	428	0.0023	24	c.21 others(33): Show c.211_*234dupTATATATATATATATATATATATA	HOXD10	ENSG00000128710.6	transcript	ENST00000249501.5	protein_coding	2/2	235	INFO_REALIGN_3_PRIME	chr2	TogoVar
HOXD9_chr2_176117719_176129937	176119435	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	404	0.0025	24	c.-33 others(35): Show c.-3334_-3333insTATATATATATATATATATATATA	HOXD9	ENSG00000128709.13	transcript	ENST00000249499.8	protein_coding		3283		chr2	TogoVar
HP1BP3_chr1_20735266_20792307	20746186	A A	ATATGTGT others(17): Show ATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 NA18522.hp1 HG02055.hp1 HG02559.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0003g0074 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0003g0074	3	378	0.0079	24	c.125 others(41): Show c.1254-531_1254-530insCACACACACACACACACACACATA	HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	11/12			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10398906	G G	GGCCACTT others(17): Show GGCCACTTCCACTCCTTCATTCTCC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	314	0.0032	24	c.-25 others(41): Show c.-25+1987_-25+2010dupGCCACTTCCACTCCTTCATTCTCC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399283	C C	CCACCGCC others(17): Show CCACCGCCGCTGCCGCTACCACCAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	314	0.0032	24	c.-25 others(41): Show c.-25+2367_-25+2368insGCCGCTGCCGCTACCACCATCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL4_chr1_39673648_39696433	39684227	G G	GCACCCCG others(17): Show GCACCCCGGGTGCCTCGCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(51): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00673.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02080.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG03490.hp2 HG03491.hp2 HG03704.hp2 HG03831.hp2 HG04184.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18981.hp2 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18995.hp2 NA18999.hp2 NA19003.hp2 NA19005.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19076.hp2 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0009 a0001c0003t0014 others(2): Show a0001c0003t0003 a0001c0003t0009 a0001c0003t0014 a0001c0003t0024 a0001c0004t0003	a0001c0003t0003g0006 a0001c0003t0003g0008 a0001c0003t0003g0012 others(20): Show a0001c0003t0003g0006 a0001c0003t0003g0008 a0001c0003t0003g0012 a0001c0003t0003g0044 a0001c0003t0003g0045 a0001c0003t0003g0049 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0100 a0001c0003t0003g0103 a0001c0003t0003g0106 a0001c0003t0003g0111 a0001c0003t0003g0133 a0001c0003t0009g0007 a0001c0003t0009g0105 a0001c0003t0014g0046 a0001c0003t0014g0104 a0001c0003t0014g0107 a0001c0003t0024g0101 a0001c0004t0003g0027 a0001c0004t0003g0108 a0001c0004t0003g0122	54	420	0.1286	24	c.163 others(37): Show c.163-99_163-76dupGGAGGAGGCGAGGCACCCGGGGTG	HPCAL4	ENSG00000116983.13	transcript	ENST00000372844.8	protein_coding	2/3			chr1	TogoVar
HPCAL4_chr1_39673648_39696433	39684254	C C	CCCCGGGT others(17): Show CCCCGGGTGCCTCGCCTCCTCCCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0026 a0001c0002t0028 a0001c0002t0029 a0001c0005t0007 a0001c0006t0002 a0001c0007t0004 a0002c0008t0007	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(106): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0112 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0011g0013 a0001c0001t0011g0110 a0001c0001t0013g0028 a0001c0001t0013g0121 a0001c0001t0022g0134 a0001c0001t0023g0109 a0001c0001t0027g0055 a0001c0002t0004g0003 a0001c0002t0004g0024 a0001c0002t0004g0030 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0040 a0001c0002t0004g0050 a0001c0002t0004g0081 a0001c0002t0004g0082 a0001c0002t0004g0084 a0001c0002t0004g0088 a0001c0002t0004g0096 a0001c0002t0004g0118 a0001c0002t0004g0130 a0001c0002t0005g0004 a0001c0002t0005g0009 a0001c0002t0005g0019 a0001c0002t0005g0062 a0001c0002t0005g0071 a0001c0002t0005g0072 a0001c0002t0005g0073 a0001c0002t0005g0092 a0001c0002t0005g0113 a0001c0002t0005g0129 a0001c0002t0006g0005 a0001c0002t0006g0021 a0001c0002t0006g0041 a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0093 a0001c0002t0006g0094 a0001c0002t0006g0097 a0001c0002t0006g0098 a0001c0002t0007g0010 a0001c0002t0007g0078 a0001c0002t0007g0083 a0001c0002t0008g0016 a0001c0002t0008g0057 a0001c0002t0008g0070 a0001c0002t0008g0080 a0001c0002t0008g0136 a0001c0002t0008g0138 a0001c0002t0010g0025 a0001c0002t0010g0085 a0001c0002t0010g0087 a0001c0002t0010g0089 a0001c0002t0012g0017 a0001c0002t0015g0036 a0001c0002t0015g0075 a0001c0002t0015g0132 a0001c0002t0017g0035 a0001c0002t0018g0034 a0001c0002t0019g0091 a0001c0002t0019g0095 a0001c0002t0020g0063 a0001c0002t0021g0090 a0001c0002t0026g0086 a0001c0002t0028g0127 a0001c0002t0029g0139 a0001c0005t0007g0029 a0001c0006t0002g0032 a0001c0007t0004g0039 a0002c0008t0007g0079	349	420	0.8310	24	c.163 others(39): Show c.163-103_163-102insATGGGAGGAGGCGAGGCACCCGGG	HPCAL4	ENSG00000116983.13	transcript	ENST00000372844.8	protein_coding	2/3			chr1	TogoVar
HPD_chr12_121834527_121863859	121834987	T T	TTTCTTTT others(17): Show TTTCTTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	406	0.0025	24	c.47 others(35): Show c.4740_*4741insGAAAGAAAGAAAGAAAGAAAAGAA	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4539		chr12	TogoVar
HPD_chr12_121834527_121863859	121834987	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	24	c.47 others(35): Show c.4740_*4741insGAAGGAAAGAAAGAAAGAAAGAAA	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4539		chr12	TogoVar
HPD_chr12_121834527_121863859	121834987	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(26): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00642.hp2 HG00733.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG02155.hp2 HG02523.hp1 HG03017.hp2 HG03654.hp2 HG03688.hp2 HG04199.hp2 NA18941.hp1 NA18942.hp2 NA18950.hp2 NA18975.hp2 NA18999.hp2 NA19062.hp2 NA19066.hp1 NA19084.hp2 NA19086.hp1 NA20752.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0004c0006	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0155 a0001c0001t0001g0213 a0001c0001t0001g0231 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0291 a0001c0004t0001g0013 a0001c0004t0001g0240 a0001c0007t0001g0018 a0004c0006t0001g0192	29	406	0.0714	24	c.47 others(35): Show c.4740_*4741insGAAAGAAAGAAAGAAAGAAAGAAA	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4539		chr12	TogoVar
HPGDS_chr4_94293535_94347836	94340309	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	312	0.0064	24	c.-10 others(41): Show c.-10+2485_-10+2486insAAAAGAAAGAAAGAAAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340309	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03831.hp1 HG00558.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0147 a0001c0001t0001g0148	2	312	0.0064	24	c.-10 others(41): Show c.-10+2485_-10+2486insAGAAAAGAAAAAGAAAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340312	T T	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18995.hp1 NA18943.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0074 a0001c0001t0001g0075	2	312	0.0064	24	c.-10 others(41): Show c.-10+2482_-10+2483insGAAAAGAAAAAGAAAGAAAGAAAG	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPN_chr19_35036721_35071573	35048082	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAAGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02027.hp1 HG02083.hp1 others(13): Show HG01175.hp2 HG02027.hp1 HG02083.hp1 HG02145.hp2 HG02155.hp1 HG02523.hp2 HG02698.hp2 HG02723.hp2 HG02896.hp2 HG03831.hp1 NA18522.hp1 NA18956.hp2 NA18972.hp1 NA19000.hp2 NA19064.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0149 others(13): Show a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0267 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0327 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0007g0247	16	384	0.0417	24	c.17- others(39): Show c.17-1207_17-1206insGAAAGAAAGAAAGAAAGAAAAGGA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPS3_chr3_149124638_149178732	149175664	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG02109.hp2 others(1): Show HG00735.hp2 HG00738.hp2 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0010 a0001c0001t0011 a0001c0002t0010	a0001c0001t0011g0213 a0001c0002t0010g0041 a0001c0002t0010g0042 others(1): Show a0001c0001t0011g0213 a0001c0002t0010g0041 a0001c0002t0010g0042 a0001c0002t0010g0046	4	392	0.0102	24	c.34 others(35): Show c.3442_*3443insGTGTGTGTGTGTGTGTGTGTGTGT	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding		1933		chr3	TogoVar
HPS5_chr11_18273676_18327140	18302831	G G	GGGGGGGG others(17): Show GGGGGGGGGGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0035 a0001c0003t0001g0035	1	372	0.0027	24	c.897 others(41): Show c.897-1916_897-1915insTCCCCCCCCCCCCCCCCCCCCCCC	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	8/22			chr11	TogoVar
HPSE2_chr10_98452077_99240852	98580824	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	142	0.0070	24	c.132 others(45): Show c.1320+34079_1320+34080insTATATATATATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(17): Show ATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp1 HG03540.hp2 others(2): Show HG02965.hp1 HG03471.hp1 HG03540.hp2 HG03710.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0026 a0001c0001t0031	a0001c0001t0001g0129 a0001c0001t0003g0077 a0001c0001t0008g0084 others(2): Show a0001c0001t0001g0129 a0001c0001t0003g0077 a0001c0001t0008g0084 a0001c0001t0026g0105 a0001c0001t0031g0109	5	142	0.0352	24	c.132 others(45): Show c.1320+34067_1320+34068insCACACACACATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98600911	G G	GTATATAT others(17): Show GTATATATGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	142	0.0070	24	c.132 others(45): Show c.1320+13992_1320+13993insTATATATATATACACACATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18747.hp1 NA18977.hp2 HG01361.hp1 NA18747.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0009g0049 a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0009g0049	3	142	0.0211	24	c.611 others(41): Show c.611-5892_611-5891insGTGTGTGTGTATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01993.hp1 HG02257.hp1 others(5): Show HG01928.hp1 HG01993.hp1 HG02257.hp1 HG03490.hp2 HG03654.hp1 NA18946.hp2 NA19009.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0021 a0001c0001t0001 a0002c0002t0002 a0002c0002t0021	a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0039 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0039 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0021g0099	8	142	0.0563	24	c.611 others(41): Show c.611-5892_611-5891insGTGTGTGTATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG03209.hp1 HG00639.hp2 HG01109.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0002c0002t0010 a0001c0001t0004 a0002c0002t0002 a0002c0002t0010	a0001c0001t0004g0088 a0002c0002t0002g0061 a0002c0002t0010g0056 a0001c0001t0004g0088 a0002c0002t0002g0061 a0002c0002t0010g0056	3	142	0.0211	24	c.611 others(41): Show c.611-5892_611-5891insGTGTATATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02083.hp2 HG02723.hp1 others(2): Show HG01884.hp1 HG02083.hp2 HG02723.hp1 NA18522.hp1 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0002	a0001c0001t0003g0026 a0001c0001t0003g0131 a0001c0001t0005g0027 others(2): Show a0001c0001t0003g0026 a0001c0001t0003g0131 a0001c0001t0005g0027 a0001c0001t0008g0004 a0002c0002t0002g0050	5	142	0.0352	24	c.611 others(41): Show c.611-5892_611-5891insGTATATATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98795019	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp1 HG01884.hp2 others(8): Show HG00438.hp1 HG01255.hp1 HG01884.hp2 HG02135.hp1 HG02523.hp2 HG02647.hp1 HG03471.hp1 HG03540.hp2 NA18747.hp2 NA18939.hp2 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 a0001c0001t0031 a0002c0002t0007 a0002c0002t0012	a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0004g0033 others(8): Show a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0004g0033 a0001c0001t0004g0064 a0001c0001t0006g0107 a0001c0001t0009g0122 a0001c0001t0017g0053 a0001c0001t0026g0105 a0001c0001t0031g0109 a0002c0002t0007g0101 a0002c0002t0012g0078	11	142	0.0775	24	c.611 others(43): Show c.611-50987_611-50964dupCTTCCTTCCTTCCTTCCTTCCTTC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99118050	T T	TAAGCTTT others(17): Show TAAGCTTTATTTCTGGGATGCAAGG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	142	0.0070	24	c.610 others(43): Show c.610+26164_610+26187dupCCTTGCATCCCAGAAATAAAGCTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132146	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0136 a0001c0001t0014g0136	1	142	0.0070	24	c.610 others(43): Show c.610+12068_610+12091dupTCTTTCTTTCTTTCTTTCTTTCTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar

Search by Variant

Search

Search Results