JoGo: Joint Open Genome and Omics Platform

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 (≤).

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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
IQGAP1_chr15_90383242_90507239	90422614	ATATATAT others(25): Show ATATATATATATGTATATATATATATGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01261.hp2 others(11): Show HG00673.hp1 HG01074.hp1 HG01261.hp2 HG02027.hp2 HG02040.hp1 HG02109.hp1 HG03704.hp1 NA18747.hp1 NA18948.hp2 NA18974.hp2 NA18993.hp2 NA19006.hp1 NA19057.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 a0001c0002t0005 a0002c0008t0001	a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0223 others(11): Show a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0242 a0001c0001t0001g0352 a0001c0001t0007g0183 a0001c0002t0004g0071 a0001c0002t0004g0353 a0001c0002t0005g0067 a0001c0002t0005g0077 a0001c0002t0005g0090 a0002c0008t0001g0180 a0002c0008t0001g0260	14	360	0.0389	-32	c.156 others(49): Show c.156-3484_156-3453delGTATATATATATATGTATATGTATATAT ATAT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76436493	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03704.hp1 HG00423.hp1 HG03704.hp1	a0004 a0021 a0004 a0021	a0004c0005 a0021c0028 a0004c0005 a0021c0028	a0004c0005t0013 a0021c0028t0010 a0004c0005t0013 a0021c0028t0010	a0004c0005t0013g0065 a0021c0028t0010g0066 a0004c0005t0013g0065 a0021c0028t0010g0066	2	222	0.0090	-32	c.47- others(49): Show c.47-25075_47-25044delATATATATATATATATATATATATTTTT TTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76436495	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0030 a0030	a0030c0053 a0030c0053	a0030c0053t0003 a0030c0053t0003	a0030c0053t0003g0195 a0030c0053t0003g0195	1	222	0.0045	-32	c.47- others(49): Show c.47-25073_47-25042delATATATATATATATATATATATTTTTTT TTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRAG1_chr11_10568095_10698755	10698475	GGAGAGAT others(25): Show GGAGAGATAGATAGATAGATAGATAGATAGATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01943.hp2 HG02109.hp2 others(5): Show HG00741.hp1 HG01943.hp2 HG02109.hp2 HG02630.hp1 HG02895.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp2	a0001 a0012 a0001 a0012	a0001c0005 a0012c0019 a0001c0005 a0012c0019	a0001c0005t0001 a0001c0005t0004 a0001c0005t0010 others(1): Show a0001c0005t0001 a0001c0005t0004 a0001c0005t0010 a0012c0019t0001	a0001c0005t0001g0234 a0001c0005t0001g0236 a0001c0005t0001g0240 others(5): Show a0001c0005t0001g0234 a0001c0005t0001g0236 a0001c0005t0001g0240 a0001c0005t0001g0241 a0001c0005t0001g0242 a0001c0005t0004g0238 a0001c0005t0010g0237 a0012c0019t0001g0239	8	278	0.0288	-32	c.-49 others(43): Show c.-4905_-4874delTATCTATCTATCTATCTATCTATCTATCTCTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding		4721		chr11	TogoVar
IRAK1BP1_chr6_78862551_78908102	78902768	CTACATAC others(25): Show CTACATACATACATACATACATACATACATACA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0095 a0001c0001t0109g0095	1	346	0.0029	-32	c.44 others(43): Show c.4457_*4488delCATACATACATACATACATACATACATACATA	IRAK1BP1	ENSG00000146243.14	transcript	ENST00000369940.7	protein_coding	4/4	4457	INFO_REALIGN_3_PRIME	chr6	TogoVar
ISM2_chr14_77469394_77503816	77500566	GTGTGAGT others(25): Show GTGTGAGTAAATGAGAAGTAAATGTGAAGTAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03654.hp1 HG03710.hp2 others(2): Show HG02738.hp2 HG03654.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0071 a0002c0002t0002g0164 others(1): Show a0002c0002t0002g0013 a0002c0002t0002g0071 a0002c0002t0002g0164 a0002c0002t0002g0167	5	280	0.0179	-32	c.-18 others(43): Show c.-1805_-1774delTTTACTTCACATTTACTTCTCATTTACTCACA	ISM2	ENSG00000100593.18	transcript	ENST00000342219.9	protein_coding		1751		chr14	TogoVar
ISOC2_chr19_55447985_55466642	55448935	CCACACAC others(25): Show CCACACACACGCCACACAGACCACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01070.hp2 HG01071.hp2 others(43): Show HG00408.hp2 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02717.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03453.hp1 HG03471.hp1 HG04199.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18971.hp1 NA18975.hp1 NA18993.hp1 NA18993.hp2 NA19063.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0001 a0001c0002t0005 a0004c0007t0001 a0001c0002t0001 a0001c0002t0005 a0004c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0038 others(11): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0038 a0001c0002t0001g0049 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0098 a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0148 a0001c0002t0001g0157 a0001c0002t0005g0027 a0001c0002t0005g0073 a0004c0007t0001g0088	46	380	0.1211	-32	c.43 others(43): Show c.4341_*4372delTGTGTGTGTGTGGTCTGTGTGGCGTGTGTGTG	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		4049		chr19	TogoVar
ISY1_chr3_129122415_129166063	129164103	TGGGAGGC others(25): Show TGGGAGGCTAAGGTGGGAGAATCACTTGAACGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02027.hp1 HG02074.hp1 others(3): Show HG00544.hp1 HG02027.hp1 HG02074.hp1 HG02129.hp2 HG02165.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0059 a0001c0001t0008g0061 a0001c0001t0008g0062 others(3): Show a0001c0001t0003g0059 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0008g0072	6	366	0.0164	-32	c.-31 others(43): Show c.-3160_-3129delGCGTTCAAGTGATTCTCCCACCTTAGCCTCCC	ISY1	ENSG00000240682.10	transcript	ENST00000393295.8	protein_coding		3041		chr3	TogoVar
ITGA11_chr15_68291532_68437163	68302054	CAGTGTGT others(25): Show CAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG03098.hp2 HG03225.hp2 HG02055.hp1 HG03098.hp2 HG03225.hp2	a0004 a0008 a0004 a0008	a0004c0053 a0008c0020 a0004c0053 a0008c0020	a0004c0053t0025 a0008c0020t0025 a0004c0053t0025 a0008c0020t0025	a0004c0053t0025g0133 a0008c0020t0025g0022 a0008c0020t0025g0160 a0004c0053t0025g0133 a0008c0020t0025g0022 a0008c0020t0025g0160	3	242	0.0124	-32	c.97 others(42): Show c.973_*1004delCACACACACACACACACACACACACACACACT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	30/30	973		chr15	TogoVar
ITGA11_chr15_68291532_68437163	68302055	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG03209.hp1 HG04115.hp2 HG02922.hp1 HG03209.hp1 HG04115.hp2	a0002 a0004 a0002 a0004	a0002c0011 a0004c0075 a0004c0079 a0002c0011 a0004c0075 a0004c0079	a0002c0011t0034 a0004c0075t0034 a0004c0079t0092 a0002c0011t0034 a0004c0075t0034 a0004c0079t0092	a0002c0011t0034g0150 a0004c0075t0034g0015 a0004c0079t0092g0027 a0002c0011t0034g0150 a0004c0075t0034g0015 a0004c0079t0092g0027	3	242	0.0124	-32	c.97 others(42): Show c.972_*1003delACACACACACACACACACACACACACACACAC	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	30/30	972		chr15	TogoVar
ITGA2B_chr17_44367181_44394649	44368118	AAATATAT others(25): Show AAATATATATATATATATATATATATATATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0029 a0003c0004t0001g0029	1	354	0.0028	-32	c.42 others(43): Show c.4214_*4245delAAAATATATATATATATATATATATATATATT	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4062		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368126	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	354	0.0028	-32	c.42 others(43): Show c.4206_*4237delAAAAAAAAAAAATATATATATATATATATATA	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4054		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368128	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG02723.hp1 others(1): Show HG02280.hp1 HG02630.hp1 HG02723.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0032 a0001c0001t0001g0099 a0001c0001t0001g0100	4	354	0.0113	-32	c.42 others(43): Show c.4204_*4235delAAAAAAAAAAAAAATATATATATATATATATA	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4052		chr17	TogoVar
ITGA9_chr3_37447141_37828507	37512122	TTCTTTTC others(25): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0009	a0001c0013t0009g0159 a0001c0013t0009g0160 a0001c0013t0009g0159 a0001c0013t0009g0160	2	168	0.0119	-32	c.898 others(49): Show c.898-1639_898-1608delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA9_chr3_37447141_37828507	37530717	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp1 HG02976.hp1 HG03041.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0024 a0001c0001 a0008c0024	a0001c0001t0003 a0008c0024t0005 a0001c0001t0003 a0008c0024t0005	a0001c0001t0003g0054 a0008c0024t0005g0084 a0001c0001t0003g0054 a0008c0024t0005g0084	2	168	0.0119	-32	c.137 others(51): Show c.1374-2576_1374-2545delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAM_chr16_31254975_31337877	31302426	TTCTTCTT others(25): Show TTCTTCTTTCTTTCTTTCTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0010 a0004c0006t0003g0010	1	244	0.0041	-32	c.170 others(51): Show c.1707+4473_1707+4504delTCTTCTTTCTTTCTTTCTTTCTTTCT TCCTTC	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29			chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302918	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp1 HG02273.hp1 others(4): Show HG01123.hp2 HG01255.hp1 HG02273.hp1 HG06807.hp1 NA19057.hp1 NA19057.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0075 a0001c0001t0001g0178 a0001c0001t0001g0220 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0178 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0002t0002g0021 a0001c0002t0002g0072 a0001c0002t0002g0229	7	244	0.0287	-32	c.170 others(51): Show c.1707+5014_1707+5045delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334645	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 homoSapiens_chm13v2.hp1 HG02818.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0100 a0001c0002t0002g0049 a0001c0001t0001g0100 a0001c0002t0002g0049	2	244	0.0082	-32	c.29 others(43): Show c.2939_*2970delTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1769		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334653	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0172 a0008c0015t0001g0172	1	244	0.0041	-32	c.29 others(43): Show c.2947_*2978delTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1777		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334657	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 NA18951.hp1 HG03834.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0230 a0001c0001t0001g0169 a0001c0001t0001g0230	2	244	0.0082	-32	c.29 others(43): Show c.2951_*2982delTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1781		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334661	CTTCCTTC others(25): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 NA18747.hp2 HG01192.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0217 a0001c0001t0001g0032 a0001c0001t0001g0217	2	244	0.0082	-32	c.29 others(43): Show c.2955_*2986delTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1785		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334669	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG01258.hp1 others(2): Show HG00323.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG02071.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0003 a0004c0006t0003 a0002c0003t0003 a0004c0006t0003	a0002c0003t0003g0088 a0004c0006t0003g0005 a0004c0006t0003g0006 others(2): Show a0002c0003t0003g0088 a0004c0006t0003g0005 a0004c0006t0003g0006 a0004c0006t0003g0008 a0004c0006t0003g0012	5	244	0.0205	-32	c.29 others(43): Show c.2963_*2994delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1793		chr16	TogoVar
ITGBL1_chr13_101447675_101721446	101604939	TATATATG others(25): Show TATATATGTGTACATGTGTATATGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(257): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0002c0004 a0002c0007 a0002c0008 a0002c0012 a0002c0021 a0003c0010 a0004c0013 a0004c0018 a0005c0014 a0006c0022 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0009t0001 a0001c0009t0002 a0001c0011t0001 a0001c0015t0001 a0001c0016t0001 a0001c0019t0002 a0001c0020t0001 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0012t0001 a0002c0021t0002 a0003c0010t0001 a0004c0013t0001 a0004c0018t0001 a0005c0014t0001 a0006c0022t0001 a0007c0017t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(255): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0002g0091 a0001c0001t0002g0112 a0001c0001t0002g0134 a0001c0001t0002g0165 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0003g0173 a0001c0001t0005g0086 a0001c0002t0001g0006 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0250 a0001c0002t0001g0255 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0002g0212 a0001c0002t0002g0242 a0001c0002t0002g0282 a0001c0003t0001g0002 a0001c0003t0001g0014 a0001c0003t0001g0020 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0056 a0001c0003t0001g0062 a0001c0003t0001g0068 a0001c0003t0001g0090 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0118 a0001c0003t0001g0145 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0003t0001g0163 a0001c0003t0001g0168 a0001c0003t0001g0180 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0203 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0004g0181 a0001c0005t0001g0029 a0001c0005t0001g0033 a0001c0005t0001g0035 a0001c0005t0001g0036 a0001c0005t0001g0039 a0001c0005t0001g0083 a0001c0005t0001g0138 a0001c0005t0001g0191 a0001c0005t0001g0195 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0002g0037 a0001c0005t0002g0042 a0001c0005t0002g0044 a0001c0005t0002g0299 a0001c0006t0001g0003 a0001c0006t0001g0219 a0001c0006t0001g0220 a0001c0006t0001g0223 a0001c0006t0001g0224 a0001c0006t0001g0228 a0001c0006t0001g0229 a0001c0006t0001g0232 a0001c0006t0001g0234 a0001c0006t0001g0246 a0001c0006t0001g0247 a0001c0006t0001g0258 a0001c0006t0001g0269 a0001c0006t0001g0276 a0001c0009t0001g0261 a0001c0009t0001g0267 a0001c0009t0001g0278 a0001c0009t0002g0239 a0001c0009t0002g0240 a0001c0011t0001g0008 a0001c0011t0001g0032 a0001c0011t0001g0038 a0001c0011t0001g0049 a0001c0015t0001g0226 a0001c0016t0001g0260 a0001c0019t0002g0143 a0001c0020t0001g0167 a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0004t0001g0028 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0060 a0002c0004t0001g0106 a0002c0004t0001g0130 a0002c0004t0001g0131 a0002c0004t0001g0204 a0002c0004t0001g0209 a0002c0004t0001g0283 a0002c0004t0001g0284 a0002c0004t0001g0285 a0002c0004t0001g0286 a0002c0004t0001g0287 a0002c0004t0001g0288 a0002c0004t0001g0289 a0002c0004t0001g0290 a0002c0004t0001g0292 a0002c0004t0001g0304 a0002c0004t0002g0013 a0002c0004t0002g0030 a0002c0004t0002g0055 a0002c0007t0001g0001 a0002c0007t0001g0052 a0002c0007t0001g0061 a0002c0007t0001g0065 a0002c0007t0001g0069 a0002c0007t0001g0074 a0002c0007t0001g0075 a0002c0007t0001g0144 a0002c0007t0001g0164 a0002c0007t0001g0291 a0002c0007t0004g0071 a0002c0008t0001g0064 a0002c0008t0001g0245 a0002c0008t0001g0252 a0002c0008t0001g0254 a0002c0012t0001g0218 a0002c0012t0001g0244 a0002c0012t0001g0249 a0002c0021t0002g0293 a0003c0010t0001g0009 a0004c0013t0001g0043 a0004c0018t0001g0046 a0005c0014t0001g0076 a0006c0022t0001g0194 a0007c0017t0001g0088	260	306	0.8497	-32	c.101 others(51): Show c.1015+6648_1015+6679delTGTACATGTGTATATGTATATATACA TATATG	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH5_chr10_7554270_7671966	7556076	ATATGTAT others(25): Show ATATGTATATATATATATATATATGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0000 a0000	a0000c0030 a0000c0030	a0000c0030t0015 a0000c0030t0015	a0000c0030t0015g0010 a0000c0030t0015g0010	1	342	0.0029	-32	c.69 others(43): Show c.6975_*7006delCACACACACATATATATATATATATATACATA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		3193		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7620666	AATGTTAT others(25): Show AATGTTATTTGCCAAACAGACCCCTCTCTGTCC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01070.hp1 others(42): Show HG00597.hp2 HG00621.hp1 HG01070.hp1 HG01175.hp1 HG01346.hp2 HG02055.hp2 HG02083.hp1 HG02145.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02698.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03688.hp2 HG04228.hp1 NA18942.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18959.hp1 NA18970.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19058.hp2 NA19070.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp2 NA19240.hp1	a0000 a0001 a0002 others(5): Show a0000 a0001 a0002 a0003 a0004 a0012 a0016 a0033	a0000c0026 a0000c0034 a0000c0038 others(14): Show a0000c0026 a0000c0034 a0000c0038 a0000c0042 a0000c0057 a0000c0065 a0001c0001 a0001c0006 a0002c0003 a0003c0002 a0003c0005 a0004c0007 a0004c0008 a0004c0035 a0012c0037 a0016c0049 a0033c0047	a0000c0026t0007 a0000c0034t0004 a0000c0038t0004 others(24): Show a0000c0026t0007 a0000c0034t0004 a0000c0038t0004 a0000c0042t0033 a0000c0057t0035 a0000c0065t0007 a0001c0001t0001 a0001c0006t0001 a0001c0006t0017 a0002c0003t0001 a0002c0003t0011 a0002c0003t0016 a0003c0002t0002 a0003c0002t0026 a0003c0005t0001 a0003c0005t0002 a0003c0005t0009 a0003c0005t0050 a0004c0007t0001 a0004c0007t0020 a0004c0007t0053 a0004c0008t0001 a0004c0008t0006 a0004c0035t0057 a0012c0037t0001 a0016c0049t0001 a0033c0047t0001	a0000c0026t0007g0068 a0000c0034t0004g0313 a0000c0038t0004g0276 others(42): Show a0000c0026t0007g0068 a0000c0034t0004g0313 a0000c0038t0004g0276 a0000c0042t0033g0275 a0000c0057t0035g0191 a0000c0065t0007g0147 a0001c0001t0001g0185 a0001c0006t0001g0104 a0001c0006t0001g0136 a0001c0006t0001g0330 a0001c0006t0001g0333 a0001c0006t0017g0156 a0002c0003t0001g0103 a0002c0003t0001g0141 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0328 a0002c0003t0001g0339 a0002c0003t0011g0308 a0002c0003t0016g0105 a0002c0003t0016g0133 a0003c0002t0002g0074 a0003c0002t0026g0245 a0003c0005t0001g0116 a0003c0005t0001g0125 a0003c0005t0001g0281 a0003c0005t0001g0317 a0003c0005t0001g0331 a0003c0005t0001g0334 a0003c0005t0001g0337 a0003c0005t0002g0310 a0003c0005t0009g0309 a0003c0005t0050g0280 a0004c0007t0001g0318 a0004c0007t0020g0135 a0004c0007t0020g0312 a0004c0007t0053g0325 a0004c0008t0001g0249 a0004c0008t0006g0187 a0004c0035t0057g0296 a0012c0037t0001g0139 a0016c0049t0001g0320 a0033c0047t0001g0341	45	342	0.1316	-32	c.653 others(49): Show c.653-3416_653-3385delGGACAGAGAGGGGTCTGTTTGGCAAATA ACAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar
ITPR2_chr12_26330352_26838194	26567950	TTATATAT others(25): Show TTATATATATATATATATATTATATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0008 a0001c0011t0001g0008	1	142	0.0070	-32	c.463 others(51): Show c.4631-6030_4631-5999delTATAATATATATAATATATATATATA TATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782015	TATATATA others(25): Show TATATATATATATATATATGTATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0023 a0001c0012t0005g0023	1	142	0.0070	-32	c.163 others(49): Show c.163+8110_163+8141delCTCTCTCTCTATACATATATATATATAT ATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782017	TATATATA others(25): Show TATATATATATATATATGTATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0011 a0001c0019t0011	a0001c0019t0011g0119 a0001c0019t0011g0119	1	142	0.0070	-32	c.163 others(49): Show c.163+8108_163+8139delCTCTCTCTCTCTATACATATATATATAT ATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782019	TATATATA others(25): Show TATATATATATATATGTATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19056.hp2 HG01256.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0005 a0001c0001t0001 a0001c0019t0005	a0001c0001t0001g0036 a0001c0019t0005g0042 a0001c0001t0001g0036 a0001c0019t0005g0042	2	142	0.0141	-32	c.163 others(49): Show c.163+8106_163+8137delCTCTCTCTCTCTCTATACATATATATAT ATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782021	TATATATA others(25): Show TATATATATATATGTATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0007 a0007	a0007c0050 a0007c0050	a0007c0050t0003 a0007c0050t0003	a0007c0050t0003g0016 a0007c0050t0003g0016	1	142	0.0070	-32	c.163 others(49): Show c.163+8104_163+8135delCTCTCTCTCTCTCTCTATACATATATAT ATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26831757	TATATAAA others(25): Show TATATAAATATATATTCTACATAAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp1 HG03225.hp1 HG03516.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0019 a0002c0023t0019	a0002c0023t0019g0131 a0002c0023t0019g0132 a0002c0023t0019g0131 a0002c0023t0019g0132	2	142	0.0141	-32	c.92+ others(45): Show c.92+901_92+932delTTATATATTTTATGTAGAATATATATTTATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31521615	TTTCCCTC others(25): Show TTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02630.hp1 others(1): Show HG02257.hp2 HG02258.hp1 HG02630.hp1 HG03195.hp2	a0001 a0005 a0013 others(1): Show a0001 a0005 a0013 a0020	a0001c0002 a0005c0009 a0013c0026 others(1): Show a0001c0002 a0005c0009 a0013c0026 a0020c0051	a0001c0002t0002 a0005c0009t0004 a0013c0026t0008 others(1): Show a0001c0002t0002 a0005c0009t0004 a0013c0026t0008 a0020c0051t0001	a0001c0002t0002g0128 a0005c0009t0004g0019 a0013c0026t0008g0164 others(1): Show a0001c0002t0002g0128 a0005c0009t0004g0019 a0013c0026t0008g0164 a0020c0051t0001g0011	4	312	0.0128	-32	c.-98 others(49): Show c.-98+7500_-98+7531delCTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCC	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31521620	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG03130.hp2 HG02451.hp1 HG02486.hp2 HG03130.hp2	a0006 a0023 a0006 a0023	a0006c0010 a0006c0022 a0023c0035 a0006c0010 a0006c0022 a0023c0035	a0006c0010t0031 a0006c0022t0004 a0023c0035t0001 a0006c0010t0031 a0006c0022t0004 a0023c0035t0001	a0006c0010t0031g0297 a0006c0022t0004g0221 a0023c0035t0001g0220 a0006c0010t0031g0297 a0006c0022t0004g0221 a0023c0035t0001g0220	3	312	0.0096	-32	c.-98 others(49): Show c.-98+7537_-98+7568delTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL1_chr2_96320317_96333353	96329149	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	364	0.0028	-32	c.85 others(41): Show c.851_*882delTATATATATATATATATATATATATATATATA	ITPRIPL1	ENSG00000198885.10	transcript	ENST00000439118.3	protein_coding		797		chr2	TogoVar
ITPRIP_chr10_104304700_104343465	104306044	TGTGTGTG others(25): Show TGTGTGTGTGTGCGCGCGCGCGCGCGCGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01346.hp1 HG01515.hp2 others(1): Show HG01255.hp1 HG01346.hp1 HG01515.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0024 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0002g0067	4	324	0.0124	-32	c.83 others(43): Show c.8332_*8363delGCGCACGCGCGCGCGCGCGCGCACACACACAC	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		3655		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690783	ATATATAC others(25): Show ATATATACATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01516.hp2 NA18989.hp1 HG01071.hp1 HG01516.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0005	a0001c0001t0002g0048 a0001c0001t0002g0128 a0001c0003t0005g0104 a0001c0001t0002g0048 a0001c0001t0002g0128 a0001c0003t0005g0104	3	242	0.0124	-32	c.-32 others(51): Show c.-32-28007_-32-27976delCATATATATATATATATATATATATG TATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAG2_chr14_105135995_105173776	105163574	ACTCCGCT others(25): Show ACTCCGCTCAGGCCTGTGGTCTGGGGACAGGGC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG02572.hp2 others(14): Show HG01175.hp1 HG01175.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG03041.hp2 HG03130.hp1 HG03486.hp1 HG03579.hp2 NA19030.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0014 others(3): Show a0001c0001 a0001c0005 a0001c0014 a0001c0017 a0001c0024 a0005c0007	a0001c0001t0001 a0001c0005t0004 a0001c0014t0001 others(3): Show a0001c0001t0001 a0001c0005t0004 a0001c0014t0001 a0001c0017t0004 a0001c0024t0004 a0005c0007t0004	a0001c0001t0001g0048 a0001c0005t0004g0017 a0001c0005t0004g0031 others(10): Show a0001c0001t0001g0048 a0001c0005t0004g0017 a0001c0005t0004g0031 a0001c0005t0004g0140 a0001c0005t0004g0142 a0001c0005t0004g0144 a0001c0005t0004g0145 a0001c0014t0001g0258 a0001c0017t0004g0141 a0001c0017t0004g0143 a0001c0024t0004g0146 a0005c0007t0004g0039 a0005c0007t0004g0261	17	364	0.0467	-32	c.417 others(49): Show c.417+4151_417+4182delGCCCTGTCCCCAGACCACAGGCCTGAGC GGAG	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAK1_chr1_64828229_64971549	64878561	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG04204.hp2 HG00733.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0051 a0001c0002t0002g0057	2	326	0.0061	-32	c.329 others(47): Show c.329+432_329+463delTATATATATATATATATATATATATATATA TA	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	4/24			chr1	TogoVar
JAKMIP1_chr4_6021199_6205549	6044448	TCTGTGCC others(25): Show TCTGTGCCAGCCACGGTGGCAGCACCCAGCACC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02280.hp2 HG01071.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0219 a0001c0001t0001g0157 a0001c0001t0001g0219	2	233	0.0086	-32	c.202 others(51): Show c.2029-2253_2029-2222delGGTGCTGGGTGCTGCCACCGTGGCTG GCACAG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	16/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147702640	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0229 a0001c0002t0019g0229	1	250	0.0040	-32	c.-14 others(53): Show c.-148-30718_-148-30687delTTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147743999	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG02818.hp2 others(2): Show HG01884.hp2 HG02572.hp2 HG02818.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0033 a0001c0002t0049 others(2): Show a0001c0002t0001 a0001c0002t0033 a0001c0002t0049 a0001c0002t0050 a0001c0003t0001	a0001c0002t0001g0089 a0001c0002t0033g0088 a0001c0002t0049g0092 others(2): Show a0001c0002t0001g0089 a0001c0002t0033g0088 a0001c0002t0049g0092 a0001c0002t0050g0093 a0001c0003t0001g0006	5	250	0.0200	-32	c.-14 others(53): Show c.-149+38425_-149+38456delGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147764937	AGAGAGAG others(25): Show AGAGAGAGAGGGAGAGAGAGAGAGAGAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0080 a0001c0002t0054g0080	1	250	0.0040	-32	c.-14 others(53): Show c.-149+17487_-149+17518delCCCCTCTCTCTCTCTCTCTCTCCC TCTCTCTC	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132180714	TGTGTGCG others(25): Show TGTGTGCGTGTGTGTGCGTGTGTGCGTGCGTGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0001 a0003c0051t0001	a0003c0051t0001g0004 a0003c0051t0001g0004	1	158	0.0063	-32	c.11 others(53): Show c.1104-1641_*1104-1610delTGTGCGTGTGTGTGCGTGTGTGCG TGCGTGCG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JHY_chr11_122877759_122968862	122939856	ATCACACC others(25): Show ATCACACCATTATCACAGCTAAGAATATTAACG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02602.hp1 HG02683.hp1 others(23): Show HG01261.hp1 HG02602.hp1 HG02683.hp1 HG03654.hp2 HG03688.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18945.hp2 NA18950.hp2 NA18969.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19066.hp2 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0013 a0001c0001 a0001c0003 a0007c0013	a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0007c0013t0005	a0001c0001t0005g0019 a0001c0003t0001g0180 a0001c0003t0001g0181 others(22): Show a0001c0001t0005g0019 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0002g0254 a0001c0003t0003g0190 a0001c0003t0003g0206 a0001c0003t0003g0236 a0001c0003t0005g0002 a0001c0003t0005g0026 a0001c0003t0005g0058 a0001c0003t0005g0076 a0001c0003t0005g0091 a0001c0003t0005g0095 a0001c0003t0005g0096 a0001c0003t0005g0105 a0001c0003t0005g0185 a0001c0003t0005g0186 a0001c0003t0005g0198 a0001c0003t0005g0204 a0001c0003t0005g0220 a0001c0003t0005g0246 a0001c0003t0005g0300 a0001c0003t0005g0314 a0001c0003t0005g0315 a0007c0013t0005g0260	26	332	0.0783	-32	c.163 others(51): Show c.1634+4783_1634+4814delCACACCATTATCACAGCTAAGAATAT TAACGT	JHY	ENSG00000109944.11	transcript	ENST00000227349.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JMJD6_chr17_76713451_76731606	76727935	GGTTTTAA others(25): Show GGTTTTAACACCAGCCTGTGAGGCATGTCCCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-32	c.-14 others(43): Show c.-1492_-1461delATGGGACATGCCTCACAGGCTGGTGTTAAAAC	JMJD6	ENSG00000070495.15	transcript	ENST00000397625.9	protein_coding		1330		chr17	TogoVar
KALRN_chr3_124028369_124731325	124287770	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp2 HG03688.hp1 others(3): Show HG02965.hp2 HG03139.hp2 HG03688.hp1 NA18945.hp1 NA19004.hp2 NA19077.hp2	a0001 a0001	a0001c0014 a0001c0018 a0001c0038 others(1): Show a0001c0014 a0001c0018 a0001c0038 a0001c0050	a0001c0014t0007 a0001c0018t0005 a0001c0018t0026 others(2): Show a0001c0014t0007 a0001c0018t0005 a0001c0018t0026 a0001c0038t0002 a0001c0050t0005	a0001c0014t0007g0115 a0001c0014t0007g0116 a0001c0018t0005g0009 others(3): Show a0001c0014t0007g0115 a0001c0014t0007g0116 a0001c0018t0005g0009 a0001c0018t0026g0073 a0001c0038t0002g0028 a0001c0050t0005g0042	6	116	0.0517	-32	c.970 others(51): Show c.970-10996_970-10965delATATATATATATATATATATATATAT ATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	514167	TCTCCCTC others(25): Show TCTCCCTCCCTTCCTCTCTCCCTCCCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0046 a0003c0003t0001g0046	1	254	0.0039	-32	c.-84 others(49): Show c.-84+9421_-84+9452delCCTTCCTCTCTCCCTCCCTTCCTCCCTC CCTC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK3_chr19_8317584_8348262	8328387	CCACACAC others(25): Show CCACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02922.hp2 HG03130.hp2 others(1): Show HG02109.hp2 HG02922.hp2 HG03130.hp2 NA18522.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0050 a0009c0013t0004g0051 a0009c0013t0004g0052 others(1): Show a0009c0013t0004g0050 a0009c0013t0004g0051 a0009c0013t0004g0052 a0009c0013t0004g0053	4	406	0.0099	-32	c.193 others(51): Show c.1937-3323_1937-3292delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	7/10			chr19	TogoVar
KANK4_chr1_62231165_62324434	62278320	TCTTCCTT others(25): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG00323.hp2 HG01106.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0010 a0002c0003t0002 a0002c0004t0010	a0002c0003t0002g0108 a0002c0004t0010g0109 a0002c0003t0002g0108 a0002c0004t0010g0109	2	322	0.0062	-32	c.16+ others(47): Show c.16+3197_16+3228delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9			chr1	TogoVar
KANSL1L_chr2_210016421_210176409	210079612	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp1 NA19007.hp1 HG02559.hp1 HG03130.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0129 a0001c0001t0001g0158 a0001c0001t0001g0165	3	284	0.0106	-32	c.155 others(51): Show c.1551-3888_1551-3857delTATATATATATATATATATATATATA TATATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14			chr2	TogoVar

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Search Results (Total: 5012 hits)