Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
INTS15_chr7_6585021_6613726	6598735	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	394	0.0025	13	c.581 others(30): Show c.581-1094_581-1093insGTGTGTGTGTGTG	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding	3/5			chr7	TogoVar
INTS15_chr7_6585021_6613726	6598786	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01192.hp1 HG01261.hp1 others(11): Show HG01074.hp2 HG01192.hp1 HG01261.hp1 HG01515.hp1 HG01891.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp2 HG02717.hp2 HG02723.hp2 HG02896.hp1 NA19002.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0039 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0277 a0001c0001t0001g0293 a0001c0005t0001g0312	14	394	0.0355	13	c.581 others(30): Show c.581-1043_581-1042insGTGTGTGTGTGTA	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding	3/5			chr7	TogoVar
INTS15_chr7_6585021_6613726	6611636	G G	GAACAGGG others(6): Show GAACAGGGATTAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	394	0.0025	13	c.34 others(24): Show c.3475_*3476insAACAGGGATTAGT	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding		2911		chr7	TogoVar
INTS15_chr7_6585021_6613726	6613356	T T	TATATATA others(6): Show TATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	13	c.51 others(24): Show c.5195_*5196insATATATATATATA	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding		4631		chr7	TogoVar
INTS1_chr7_1465277_1509389	1506662	C C	CCCCTTCT others(6): Show CCCCTTCTTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	316	0.0032	13	c.-23 others(24): Show c.-2382_-2381insAGGAGAAGAAGGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		2274		chr7	TogoVar
INTS2_chr17_61860367_61932982	61914702	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	366	0.0027	13	c.650 others(30): Show c.650-2645_650-2633dupTTTTTTTTTTTTT	INTS2	ENSG00000108506.14	transcript	ENST00000251334.7	protein_coding	5/24			chr17	TogoVar
INTS5_chr11_62641848_62658302	62653925	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	368	0.0027	13	c.-67 others(22): Show c.-677_-676insAAAAAAAAAAAAA	INTS5	ENSG00000185085.2	transcript	ENST00000330574.2	protein_coding		624		chr11	TogoVar
INTS6_chr13_51356577_51458036	51403593	A A	AAGAAAAA others(6): Show AAGAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0259 a0001c0001t0005g0259	1	358	0.0028	13	c.430 others(30): Show c.430-8111_430-8110insCTTTTTTTTTTCT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar
INTS6_chr13_51356577_51458036	51403605	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03688.hp1 HG01175.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0170 a0001c0001t0001g0172	2	358	0.0056	13	c.430 others(30): Show c.430-8123_430-8122insTCTTTTTTTTTTT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar
INTU_chr4_127627957_127731737	127688958	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(66): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00738.hp1 HG01358.hp1 HG01978.hp2 HG01981.hp2 HG02056.hp1 HG02074.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19077.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp2	a0002 a0011 a0002 a0011	a0002c0003 a0011c0017 a0002c0003 a0011c0017	a0002c0003t0003 a0002c0003t0011 a0002c0003t0021 others(12): Show a0002c0003t0003 a0002c0003t0011 a0002c0003t0021 a0002c0003t0030 a0002c0003t0031 a0002c0003t0032 a0002c0003t0033 a0002c0003t0034 a0002c0003t0035 a0002c0003t0036 a0002c0003t0037 a0002c0003t0070 a0002c0003t0071 a0002c0003t0072 a0011c0017t0003	a0002c0003t0003g0003 a0002c0003t0003g0019 a0002c0003t0003g0020 others(56): Show a0002c0003t0003g0003 a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0028 a0002c0003t0003g0282 a0002c0003t0003g0283 a0002c0003t0003g0285 a0002c0003t0003g0287 a0002c0003t0003g0289 a0002c0003t0003g0290 a0002c0003t0003g0291 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0297 a0002c0003t0003g0301 a0002c0003t0003g0302 a0002c0003t0003g0304 a0002c0003t0003g0305 a0002c0003t0003g0306 a0002c0003t0003g0307 a0002c0003t0003g0308 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0003g0312 a0002c0003t0003g0313 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0326 a0002c0003t0011g0281 a0002c0003t0011g0284 a0002c0003t0011g0288 a0002c0003t0011g0296 a0002c0003t0011g0314 a0002c0003t0011g0315 a0002c0003t0021g0286 a0002c0003t0021g0298 a0002c0003t0030g0325 a0002c0003t0031g0299 a0002c0003t0032g0324 a0002c0003t0033g0295 a0002c0003t0034g0300 a0002c0003t0035g0309 a0002c0003t0036g0327 a0002c0003t0037g0019 a0002c0003t0070g0318 a0002c0003t0071g0027 a0002c0003t0072g0027 a0011c0017t0003g0303	69	358	0.1927	13	c.144 others(32): Show c.1449+1094_1449+1095insCTTTCTTTCTTTT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INVS_chr9_100094243_100307175	100100837	T T	TATAAATA others(6): Show TATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19012.hp1 HG02080.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0118 a0001c0002t0002g0119	2	182	0.0110	13	c.-25 others(30): Show c.-25+1424_-25+1425insAATATATATAATA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100100862	A A	ATATATAA others(6): Show ATATATAATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(72): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03831.hp2 HG03927.hp2 NA18522.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19082.hp2 NA19084.hp1 NA19090.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0003c0008 a0007c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0018 a0001c0002t0025 a0001c0002t0030 a0001c0004t0001 a0003c0005t0022 a0003c0008t0021 a0007c0011t0002	a0001c0001t0001g0108 a0001c0001t0001g0144 a0001c0001t0001g0145 others(72): Show a0001c0001t0001g0108 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0004g0121 a0001c0001t0010g0126 a0001c0001t0010g0127 a0001c0001t0010g0157 a0001c0001t0012g0134 a0001c0001t0012g0135 a0001c0001t0012g0136 a0001c0001t0012g0162 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0002g0041 a0001c0002t0002g0103 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0173 a0001c0002t0003g0115 a0001c0002t0008g0105 a0001c0002t0008g0166 a0001c0002t0008g0168 a0001c0002t0008g0174 a0001c0002t0009g0122 a0001c0002t0009g0147 a0001c0002t0009g0150 a0001c0002t0010g0170 a0001c0002t0018g0146 a0001c0002t0018g0149 a0001c0002t0025g0165 a0001c0002t0030g0113 a0001c0004t0001g0109 a0001c0004t0001g0110 a0003c0005t0022g0002 a0003c0008t0021g0001 a0007c0011t0002g0104	75	182	0.4121	13	c.-25 others(30): Show c.-25+1452_-25+1453insATATATGTATATA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100100929	A A	ATATATTA others(6): Show ATATATTATATATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02717.hp2 others(6): Show HG02280.hp2 HG02451.hp2 HG02717.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0005 a0001c0001t0016 a0001c0001t0029 others(1): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0029 a0005c0006t0020	a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0007 others(6): Show a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0016g0011 a0001c0001t0029g0008 a0005c0006t0020g0099	9	182	0.0495	13	c.-25 others(30): Show c.-25+1518_-25+1519insTATATATGTATAT	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100154331	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	182	0.0055	13	c.273 others(32): Show c.273+27798_273+27810dupTTTTTTTTTTTTT	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100161364	C C	CAAAAAAA others(6): Show CAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0182 a0001c0001t0024g0182	1	182	0.0055	13	c.273 others(32): Show c.273+34823_273+34824insCAAAAAAAAAAAA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100161377	A A	AAACAAAA others(6): Show AAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	182	0.0055	13	c.273 others(32): Show c.273+34830_273+34831insCAAAAAAAAACAA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100161388	A A	AACAAAAA others(6): Show AACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0100 a0001c0001t0011g0101 a0001c0001t0011g0100 a0001c0001t0011g0101	2	182	0.0110	13	c.273 others(32): Show c.273+34840_273+34841insCAAAAAAAAAACA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IP6K1_chr3_49719294_49791542	49731887	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	260	0.0039	13	c.616 others(28): Show c.616+891_616+903dupTTTTTTTTTTTTT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	4/5			chr3	TogoVar
IP6K2_chr3_48683003_48722221	48687070	C C	CCTTTTTT others(6): Show CCTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01891.hp2 HG02004.hp1 others(8): Show HG01361.hp2 HG01891.hp2 HG02004.hp1 HG02074.hp2 HG02683.hp2 HG03130.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA19076.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0022 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0142	11	262	0.0420	13	c.12 others(24): Show c.1202_*1203insAAAAAAAAAAAAG	IP6K2	ENSG00000068745.15	transcript	ENST00000328631.10	protein_coding		932		chr3	TogoVar
IP6K2_chr3_48683003_48722221	48687166	C C	CCCACCTT others(6): Show CCCACCTTGGCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(241): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 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.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0004t0001 a0003c0005t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(171): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0004g0115 a0001c0001t0006g0087 a0001c0001t0007g0100 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0060 a0001c0002t0001g0127 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0002g0024 a0001c0003t0001g0012 a0001c0003t0001g0149 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0160 a0001c0003t0001g0167 a0002c0004t0001g0019 a0002c0004t0001g0097 a0003c0005t0005g0133	244	262	0.9313	13	c.11 others(24): Show c.1106_*1107insAAGGCCAAGGTGG	IP6K2	ENSG00000068745.15	transcript	ENST00000328631.10	protein_coding		836		chr3	TogoVar
IPCEF1_chr6_154149496_154361803	154152314	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	264	0.0038	13	c.75 others(24): Show c.7501_*7513dupCTTTCTTTCTTTC	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2181		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154152319	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03225.hp1 HG02965.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0147 a0001c0001t0007g0091 a0001c0001t0004g0147 a0001c0001t0007g0091	2	264	0.0076	13	c.74 others(24): Show c.7496_*7508dupTCTTTCTTTCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2176		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154152322	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 NA20129.hp2 others(1): Show HG00544.hp1 HG00609.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0151 a0001c0001t0001g0181 others(1): Show a0001c0001t0001g0103 a0001c0001t0001g0151 a0001c0001t0001g0181 a0001c0001t0001g0190	4	264	0.0152	13	c.74 others(24): Show c.7493_*7505dupCTTTCTTTCTTTC	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2173		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154152323	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG06807.hp2 NA19088.hp1 HG01496.hp1 HG06807.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0261 a0001c0001t0003g0211 a0001c0001t0007g0249 a0001c0001t0001g0261 a0001c0001t0003g0211 a0001c0001t0007g0249	3	264	0.0114	13	c.74 others(24): Show c.7492_*7504dupTCTTTCTTTCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2172		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154152326	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA19056.hp1 HG02257.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0124 a0001c0001t0009g0078 a0001c0001t0001g0124 a0001c0001t0009g0078	2	264	0.0076	13	c.74 others(24): Show c.7489_*7501dupCTTTCTTTCTTTC	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2169		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154152327	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 NA19062.hp2 HG02735.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0134 a0001c0001t0003g0123 a0001c0001t0003g0134	2	264	0.0076	13	c.74 others(24): Show c.7488_*7500dupTCTTTCTTTCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2168		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154152330	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02055.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0170 a0001c0001t0001g0142 a0001c0001t0001g0170	2	264	0.0076	13	c.74 others(24): Show c.7485_*7497dupCTTTCTTTCTTTC	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2165		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154152344	A A	AAAAGAAA others(6): Show AAAAGAAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	264	0.0038	13	c.74 others(24): Show c.7483_*7484insCTTTCTTTTCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2151		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154180414	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0178 a0001c0007t0018g0178	1	264	0.0038	13	c.911 others(32): Show c.911-12302_911-12301insAAAAATATATATA	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	10/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154273692	G G	GCTTTTTT others(6): Show GCTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	264	0.0038	13	c.-17 others(30): Show c.-17-7741_-17-7729dupAAAAAGAAAAAAG	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	2/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154290893	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	264	0.0038	13	c.-61 others(30): Show c.-61-1150_-61-1138dupAAAAAAAAAAAAA	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154313067	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG01257.hp2 others(15): Show HG00609.hp2 HG01074.hp1 HG01257.hp2 HG01891.hp1 HG01981.hp1 HG02155.hp1 HG02155.hp2 HG02486.hp1 HG02622.hp1 HG02683.hp1 HG02735.hp1 HG03704.hp1 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18982.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0003t0008	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0094 others(15): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0151 a0001c0001t0001g0190 a0001c0001t0002g0105 a0001c0001t0002g0116 a0001c0001t0002g0214 a0001c0001t0003g0012 a0001c0001t0003g0123 a0001c0001t0003g0160 a0001c0001t0003g0198 a0001c0001t0004g0013 a0001c0001t0005g0154 a0002c0003t0008g0101 a0002c0003t0008g0243	18	264	0.0682	13	c.-61 others(32): Show c.-61-23324_-61-23312dupTTTTTTTTTTTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154317548	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0172 a0001c0001t0005g0172	1	264	0.0038	13	c.-61 others(32): Show c.-61-27805_-61-27793dupTTTTTTTTTTTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154331356	G G	GAGAAAGA others(6): Show GAGAAAGAAAGGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	264	0.0038	13	c.-62 others(32): Show c.-62+25315_-62+25316insTTCCTTTCTTTCT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPMK_chr10_58186517_58272894	58211901	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02451.hp1 others(4): Show HG01243.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp1 HG02886.hp1 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0149 others(4): Show a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0003t0003g0308 a0001c0003t0003g0311	7	346	0.0202	13	c.546 others(30): Show c.546+4231_546+4243dupTTTTTTTTTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	4/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58211919	A A	ATAAAAAA others(6): Show ATAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0270 a0001c0001t0020g0270	1	346	0.0029	13	c.546 others(30): Show c.546+4225_546+4226insATTTTTTTTTTTA	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	4/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58217688	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18977.hp1 NA18988.hp1 others(3): Show NA18975.hp2 NA18977.hp1 NA18988.hp1 NA19054.hp1 NA19058.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 others(3): Show a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0241 a0001c0001t0002g0243	6	346	0.0173	13	c.374 others(30): Show c.374-1384_374-1372dupTTTTTTTTTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	3/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58259671	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01106.hp2 others(19): Show HG00609.hp1 HG00673.hp1 HG01106.hp2 HG01358.hp1 HG02523.hp1 HG03017.hp2 HG03704.hp1 HG04115.hp1 HG04228.hp2 NA18952.hp1 NA18962.hp2 NA18988.hp1 NA18999.hp1 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19088.hp1 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0011 a0001c0001t0002g0157 a0001c0001t0002g0218 others(18): Show a0001c0001t0002g0011 a0001c0001t0002g0157 a0001c0001t0002g0218 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0252 a0001c0001t0009g0219 a0001c0001t0009g0220 a0001c0001t0009g0221	22	346	0.0636	13	c.190 others(30): Show c.190+7738_190+7750dupTTTTTTTTTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	1/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58271043	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02451.hp1 others(6): Show HG01243.hp1 HG02055.hp2 HG02451.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG03098.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 others(6): Show a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0003t0003g0307 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0311	9	346	0.0260	13	c.-34 others(24): Show c.-3445_-3433dupAAAAAAAAAAAAA	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding		3150		chr10	TogoVar
IPO11_chr5_62407763_62633582	62464143	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0330 a0001c0006t0001g0330	1	330	0.0030	13	c.517 others(30): Show c.517-2975_517-2963dupTTTTTTTTTTTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62470816	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18971.hp1 NA18986.hp1 others(3): Show HG02615.hp1 NA18971.hp1 NA18986.hp1 NA18999.hp1 NA19064.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0003t0001g0014 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0003t0001g0014 a0001c0003t0001g0085 a0001c0003t0001g0157 a0001c0003t0001g0266	6	330	0.0182	13	c.708 others(28): Show c.708+525_708+537dupTTTTTTTTTTTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62514590	A A	AGGGAGAG others(6): Show AGGGAGAGGGAGAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02451.hp2 HG02647.hp1 others(7): Show HG00741.hp1 HG02451.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03098.hp1 HG03225.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0011 a0001c0002 a0002c0011	a0001c0002t0003 a0002c0011t0003 a0001c0002t0003 a0002c0011t0003	a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 others(7): Show a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0173 a0002c0011t0003g0172	10	330	0.0303	13	c.178 others(30): Show c.1783-786_1783-785insTGGGAGAGGGAGA	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62586760	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG04184.hp2 HG02293.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0028 a0001c0001t0001g0033	2	330	0.0061	13	c.258 others(32): Show c.2583-4817_2583-4816insTATATATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	27/29			chr5	TogoVar
IPO11_chr5_62407763_62633582	62586762	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02145.hp2 HG00642.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0050 a0001c0001t0001g0021 a0001c0001t0001g0050	2	330	0.0061	13	c.258 others(32): Show c.2583-4815_2583-4814insTATATATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	27/29			chr5	TogoVar
IPO11_chr5_62407763_62633582	62586768	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0267 a0001c0003t0001g0267	1	330	0.0030	13	c.258 others(32): Show c.2583-4809_2583-4808insTATATATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	27/29			chr5	TogoVar
IPO11_chr5_62407763_62633582	62596268	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp2 others(27): Show HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01952.hp2 HG02132.hp1 HG02135.hp1 HG02523.hp1 HG02647.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03453.hp2 HG06807.hp1 NA18954.hp1 NA18961.hp2 NA18966.hp2 NA18972.hp1 NA18986.hp1 NA18995.hp1 NA18999.hp1 NA19068.hp2 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0007 a0001c0003 a0001c0006 a0001c0007	a0001c0003t0001 a0001c0003t0004 a0001c0006t0010 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0006t0010 a0001c0007t0004	a0001c0003t0001g0014 a0001c0003t0001g0061 a0001c0003t0001g0062 others(27): Show a0001c0003t0001g0014 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0080 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0157 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0004g0069 a0001c0003t0004g0070 a0001c0003t0004g0071 a0001c0003t0004g0072 a0001c0003t0004g0073 a0001c0006t0010g0010 a0001c0007t0004g0060	30	330	0.0909	13	c.267 others(32): Show c.2678+4599_2678+4611dupAAAAAAAAAAAAA	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62598527	T T	TTTTCTTT others(6): Show TTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18952.hp1 NA18957.hp2 others(7): Show HG02135.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18968.hp2 NA18972.hp2 NA18979.hp2 NA19009.hp2 NA19064.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0288 others(7): Show a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0304 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0324	10	330	0.0303	13	c.267 others(32): Show c.2679-3229_2679-3217dupCTTTTCTTTCTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO5_chr13_97948675_98029296	97969175	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	380	0.0026	13	c.-11 others(30): Show c.-112-547_-112-546insATATATATATATT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO5_chr13_97948675_98029296	97969175	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	380	0.0026	13	c.-11 others(30): Show c.-112-547_-112-546insATATATATATTTT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO5_chr13_97948675_98029296	97969175	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19085.hp1 NA18980.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0046 a0001c0002t0003g0058 a0001c0002t0003g0046 a0001c0002t0003g0058	2	380	0.0053	13	c.-11 others(30): Show c.-112-547_-112-546insATATATTTTTTTT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)