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.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
IL1RAPL1_chrX_28582446_29961718	29801006	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAACTCTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	135	0.0074	-39	c.779 others(60): Show c.779-116429_779-116391delCTCTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAA		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761893	CCTTCTCC others(32): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	141	0.0071	-39	c.82+ others(58): Show c.82+102904_82+102942delCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTTCTTCTTCT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761899	CCTTCTCC others(32): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	141	0.0071	-39	c.82+ others(58): Show c.82+102910_82+102948delCCTTCTCCTTCTCCTTCTCCTTCTTC TTCTTCTTCTTCT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761911	CCTTCTCC others(32): Show CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	141	0.0071	-39	c.82+ others(58): Show c.82+102922_82+102960delCCTTCTCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL20_chr1_206860623_206874223	206866700	AACTCTCT others(32): Show AACTCTCTTTCCTACCTCCATTTAATGGATGGAGAAACTG	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	456	0.0022	-39	c.378 others(53): Show c.378+66_378+104delCTCTCTTTCCTACCTCCATTTAATGGATGGA GAAACTGA		IL20	ENSG00000162891.11	transcript	ENST00000367098.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
IL33_chr9_6210807_6262983	6252039	AAAAACAA others(32): Show AAAAACAAACAAACAAACAAAAAAAAACCCAACAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp2 HG02886.hp2 others(3): Show HG02615.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03453.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0046 a0002c0003t0006g0050 a0002c0003t0006g0331 others(3): Show a0002c0003t0006g0046 a0002c0003t0006g0050 a0002c0003t0006g0331 a0002c0003t0006g0332 a0002c0003t0006g0333 a0002c0003t0006g0334	6	362	0.0166	-39	c.343 others(54): Show c.343+783_344-780delCAAACAAACAAAAAAAAACCCAACAAAAAA CAAAACAAA		IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
IL9R_chrX_155992696_156015817	156009200	TATGTGTC others(32): Show TATGTGTCTGTGTGTGTTTATGTGTCTGTGTGTGTTCGTG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0084 a0003c0016t0001g0084	1	220	0.0046	-39	c.973 others(54): Show c.973-615_973-577delATGTGTCTGTGTGTGTTTATGTGTCTGTGT GTGTTCGTG		IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	8/8						chrX	TogoVar
INF2_chr14_104684618_104727535	104717226	CCCGGGCA others(32): Show CCCGGGCAGGGTGCGCTGCCGTCCTCCCAGTCCGCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG01952.hp1 others(7): Show HG01884.hp1 HG01891.hp2 HG01952.hp1 HG02257.hp2 HG02818.hp2 HG02976.hp1 HG03540.hp1 HG03831.hp1 NA19043.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0044 a0001c0002 a0001c0005 a0003c0044	a0001c0002t0003 a0001c0005t0023 a0001c0005t0035 others(4): Show a0001c0002t0003 a0001c0005t0023 a0001c0005t0035 a0001c0005t0036 a0001c0005t0042 a0001c0005t0062 a0003c0044t0053	a0001c0002t0003g0082 a0001c0005t0023g0112 a0001c0005t0023g0113 others(7): Show a0001c0002t0003g0082 a0001c0005t0023g0112 a0001c0005t0023g0113 a0001c0005t0023g0164 a0001c0005t0035g0174 a0001c0005t0036g0109 a0001c0005t0042g0172 a0001c0005t0042g0175 a0001c0005t0062g0192 a0003c0044t0053g0099	10	380	0.0263	-39	c.2- others(54): Show c.2-1536_*2-1498delGCCCCCACCGGGCAGGGTGCGCTGCCGTCC TCCCAGTCC		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
ING3_chr7_120945777_120982216	120978505	TTGCCCAG others(32): Show TTGCCCAGGCTAGTCTTGAACTCCTGGCCTTAAGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	332	0.0030	-39	c.36 others(50): Show c.3662_*3700delTGCCCAGGCTAGTCTTGAACTCCTGGCCTTAAGT GTGTG		ING3	ENSG00000071243.16	transcript	ENST00000315870.10	protein_coding					1290		chr7	TogoVar
INPP5D_chr2_233055342_233212903	233137838	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	310	0.0032	-39	c.666 others(56): Show c.666-2002_666-1964delAAAAAAAAAAAAAAATATATATATATAT ATATATATATA		INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	5/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
INSR_chr19_7107265_7299414	7124571	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0133 a0001c0011t0008g0133	1	300	0.0033	-39	c.325 others(56): Show c.3258+673_3258+711delATATATATATATATATATATATTTTTTT TTTTTTTTTTT		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21						chr19	TogoVar
INSR_chr19_7107265_7299414	7124573	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18522.hp2 HG01934.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0054 a0001c0008t0122 a0001c0003t0054 a0001c0008t0122	a0001c0003t0054g0039 a0001c0008t0122g0095 a0001c0003t0054g0039 a0001c0008t0122g0095	2	300	0.0067	-39	c.325 others(56): Show c.3258+671_3258+709delATATATATATATATATATATATATTTTT TTTTTTTTTTT		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21						chr19	TogoVar
INSYN2B_chr5_169856303_169985495	169972547	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG02129.hp1 others(3): Show HG01106.hp1 HG01168.hp2 HG02129.hp1 HG02647.hp1 HG03486.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0180 a0001c0001t0007g0133 a0002c0002t0001g0142 others(3): Show a0001c0001t0002g0180 a0001c0001t0007g0133 a0002c0002t0001g0142 a0002c0002t0001g0176 a0002c0002t0001g0211 a0002c0002t0002g0289	6	318	0.0189	-39	c.-91 others(58): Show c.-919+7691_-919+7729delATCTATCTATCTATCTATCTATCTAT CTATCTATCTATC		INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3						chr5	TogoVar
INTS1_chr7_1465277_1509389	1506536	CCCTCCTC others(32): Show CCCTCCTCCTCCCCCTCCTCCCCTTCCTTCTTCTCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	316	0.0032	-39	c.-22 others(50): Show c.-2294_-2256delAGGGGGAGAAGAAGGAAGGGGAGGAGGGGGAGGA GGAGG		INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding					2148		chr7	TogoVar
IQCA1_chr2_236319151_236512476	236345108	TGCTTCCC others(32): Show TGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01070.hp2 HG01993.hp1 others(4): Show HG00609.hp2 HG01070.hp2 HG01993.hp1 HG02293.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0006 a0005c0007 a0001c0001 a0003c0006 a0005c0007	a0001c0001t0001 a0003c0006t0001 a0005c0007t0001 a0001c0001t0001 a0003c0006t0001 a0005c0007t0001	a0001c0001t0001g0063 a0001c0001t0001g0107 a0001c0001t0001g0155 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0107 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0181 a0003c0006t0001g0115 a0005c0007t0001g0121	7	208	0.0337	-39	c.187 others(56): Show c.1870-504_1870-466delGCATTTACAACCAGGGCTCTGCACACCC CAGAGGGAAGC		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18						chr2	TogoVar
IQCM_chr4_149346709_149820843	149775622	CATATTTT others(32): Show CATATTTTCCAATTTATTATAGATACATCTCTTAAATTAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG02738.hp1 others(1): Show HG00642.hp1 HG01261.hp1 HG02738.hp1 HG03710.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0009c0014t0002 a0001c0001t0001 a0001c0001t0002 a0009c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0001 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0001 a0009c0014t0002g0134	4	252	0.0159	-39	c.-48 others(58): Show c.-48-32922_-48-32884delATAATTTAAGAGATGTATCTATAATA AATTGGAAAATAT		IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	2/13						chr4	TogoVar
IQCN_chr19_18252098_18279452	18261504	CCAGTGGG others(32): Show CCAGTGGGCTGAGATGGGTAGGCTGGGCTTGGGGACATCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(118): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02145.hp1 HG02257.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03704.hp2 HG04184.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19240.hp2 NA20129.hp1	a0002 a0006 a0009 others(10): Show a0002 a0006 a0009 a0018 a0019 a0020 a0027 a0028 a0030 a0036 a0037 a0038 a0039	a0002c0002 a0002c0005 a0002c0029 others(14): Show a0002c0002 a0002c0005 a0002c0029 a0002c0033 a0002c0035 a0006c0008 a0009c0018 a0018c0020 a0019c0023 a0020c0025 a0027c0049 a0028c0047 a0030c0043 a0036c0034 a0037c0031 a0038c0032 a0039c0030	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(15): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0029t0001 a0002c0033t0002 a0002c0035t0001 a0006c0008t0001 a0009c0018t0001 a0018c0020t0001 a0019c0023t0001 a0020c0025t0002 a0027c0049t0002 a0028c0047t0002 a0030c0043t0001 a0036c0034t0001 a0037c0031t0002 a0038c0032t0001 a0039c0030t0001	a0002c0002t0001g0010 a0002c0002t0001g0033 a0002c0002t0001g0059 others(79): Show a0002c0002t0001g0010 a0002c0002t0001g0033 a0002c0002t0001g0059 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0287 a0002c0002t0002g0291 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0005t0001g0015 a0002c0005t0001g0114 a0002c0005t0001g0130 a0002c0005t0001g0131 a0002c0005t0001g0132 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0141 a0002c0005t0001g0142 a0002c0029t0001g0259 a0002c0033t0002g0306 a0002c0035t0001g0175 a0006c0008t0001g0030 a0006c0008t0001g0139 a0006c0008t0001g0140 a0006c0008t0001g0143 a0006c0008t0001g0273 a0009c0018t0001g0122 a0018c0020t0001g0179 a0018c0020t0001g0180 a0019c0023t0001g0032 a0020c0025t0002g0305 a0027c0049t0002g0279 a0028c0047t0002g0311 a0030c0043t0001g0124 a0036c0034t0001g0135 a0037c0031t0002g0309 a0038c0032t0001g0178 a0039c0030t0001g0260	121	434	0.2788	-39	c.317 others(58): Show c.3177+2820_3177+2858delAGATGTCCCCAAGCCCAGCCTACCCA TCTCAGCCCACTG		IQCN	ENSG00000130518.18	transcript	ENST00000392413.5	protein_coding	3/3						chr19	TogoVar
IQCN_chr19_18252098_18279452	18261798	TCTGGGCT others(32): Show TCTGGGCTTGGGGACACCTCAGTGGGCTGAAATGGGTAGC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0032 a0019c0023t0001g0032	2	434	0.0046	-39	c.317 others(58): Show c.3177+2526_3177+2564delGCTACCCATTTCAGCCCACTGAGGTG TCCCCAAGCCCAG		IQCN	ENSG00000130518.18	transcript	ENST00000392413.5	protein_coding	3/3						chr19	TogoVar
IQGAP2_chr5_76398285_76713132	76496700	GTCTCTTT others(32): Show GTCTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0149 a0001c0003t0003g0149	1	222	0.0045	-39	c.146 others(58): Show c.146+35035_146+35073delCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTCTTTCT		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQSEC3_chr12_61767_183455	103430	TGGCTCAG others(32): Show TGGCTCAGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGCGG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0016	a0002c0001t0016g0241 a0002c0001t0016g0241	1	282	0.0036	-39	c.623 others(56): Show c.623+4241_623+4279delAGGCAGGAGAGGCGGGGCTCAGGAGGGG AGGCGGGGCTC		IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGA6_chr2_172422586_172511459	172504015	CTTAGACA others(32): Show CTTAGACATTCCCATTTAGTGTATTTGCTTCTTTGTGAGA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02886.hp2 others(6): Show HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0009 a0005c0007t0009	a0005c0007t0009g0012 a0005c0007t0009g0013 a0005c0007t0009g0044 others(6): Show a0005c0007t0009g0012 a0005c0007t0009g0013 a0005c0007t0009g0044 a0005c0007t0009g0250 a0005c0007t0009g0251 a0005c0007t0009g0252 a0005c0007t0009g0290 a0005c0007t0009g0309 a0005c0007t0009g0335	9	352	0.0256	-39	c.323 others(54): Show c.3232-72_3232-34delGACATTCCCATTTAGTGTATTTGCTTCTTT GTGAGATTA		ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	25/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAE_chr17_3709628_3806188	3747419	GCTATTCT others(32): Show GCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0023 a0023	a0023c0037 a0023c0037	a0023c0037t0001 a0023c0037t0001	a0023c0037t0001g0159 a0023c0037t0001g0159	1	302	0.0033	-39	c.215 others(56): Show c.2155+464_2155+502delGTAATCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATAG		ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	17/30						chr17	TogoVar
ITGAM_chr16_31254975_31337877	31272433	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	244	0.0041	-39	c.704 others(54): Show c.704+443_704+481delATATATATATATATATATATATATATATAT TTTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334519	TTCCTTTC others(32): Show TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp1 others(52): Show HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp1 HG02738.hp2 HG03239.hp2 HG03688.hp2 NA18747.hp1 NA18945.hp1 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18975.hp2 NA18982.hp1 NA18984.hp2 NA18994.hp1 NA18995.hp1 NA19002.hp1 NA19057.hp1 NA19063.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0002 a0005c0009t0002 a0001c0002t0002 a0005c0009t0002	a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0029 others(52): Show a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0029 a0001c0002t0002g0035 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0108 a0001c0002t0002g0117 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0168 a0001c0002t0002g0180 a0001c0002t0002g0186 a0001c0002t0002g0192 a0001c0002t0002g0197 a0001c0002t0002g0211 a0001c0002t0002g0215 a0001c0002t0002g0229 a0001c0002t0002g0231 a0005c0009t0002g0050 a0005c0009t0002g0093	55	244	0.2254	-39	c.28 others(50): Show c.2813_*2851delTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTCC		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding					1643		chr16	TogoVar
ITGB1BP1_chr2_9398475_9428528	9399764	TGGCCATC others(32): Show TGGCCATCGGTGGCAGGCTCACGTGGACAGAGTGCTCTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	276	0.0036	-39	c.70 others(50): Show c.7031_*7069delCCAGAGCACTCTGTCCACGTGAGCCTGCCACCGA TGGCC		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding					3710		chr2	TogoVar
ITGB1_chr10_32895318_32963230	32962910	CATCAGAT others(32): Show CATCAGATAGTGCTTCCAAATATTTTCTTATGACATGATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	424	0.0024	-39	c.-48 others(50): Show c.-4805_-4767delAATCATGTCATAAGAAAATATTTGGAAGCACTAT CTGAT		ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding					4681		chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737843	ATTATATA others(32): Show ATTATATATTATATTCTATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG02523.hp1 others(3): Show HG00642.hp2 HG00673.hp1 HG02523.hp1 HG04115.hp2 NA19001.hp2 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 others(3): Show a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0266	6	380	0.0158	-39	c.195 others(56): Show c.1958-777_1958-739delTTATATATTATATTCTATATATTATATA TTATATTCTAT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737864	ATTATATA others(32): Show ATTATATATTATATTCTATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0191 a0002c0003t0001g0191	1	380	0.0026	-39	c.195 others(56): Show c.1958-756_1958-718delTTATATATTATATTCTATATATTATATA TTATATTCTAT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737948	ATTATATA others(32): Show ATTATATATTATATTCTATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	380	0.0026	-39	c.195 others(56): Show c.1958-672_1958-634delTTATATATTATATTCTATATATTATATA TTATATTCTAT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737969	ATTATATA others(32): Show ATTATATATTATATTCTATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	380	0.0026	-39	c.195 others(56): Show c.1958-651_1958-613delTTATATATTATATTCTATATATTATATA TTATATTCTAT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738135	ATATTATA others(32): Show ATATTATATATTATATTCTATATATTATATATTATATTCT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	380	0.0026	-39	c.195 others(56): Show c.1958-485_1958-447delTATTATATATTATATTCTATATATTATA TATTATATTCT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566820	GGAAGAGG others(32): Show GGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 NA19005.hp1 others(1): Show HG02572.hp1 HG02717.hp1 NA19005.hp1 NA19068.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0022	a0001c0001 a0002c0017 a0003c0002 others(1): Show a0001c0001 a0002c0017 a0003c0002 a0022c0044	a0001c0001t0001 a0002c0017t0008 a0003c0002t0005 others(1): Show a0001c0001t0001 a0002c0017t0008 a0003c0002t0005 a0022c0044t0005	a0001c0001t0001g0274 a0002c0017t0008g0085 a0003c0002t0005g0078 others(1): Show a0001c0001t0001g0274 a0002c0017t0008g0085 a0003c0002t0005g0078 a0022c0044t0005g0082	4	342	0.0117	-39	c.215 others(56): Show c.2150-452_2150-414delTTCTTCTTCTTCTTCCTCTTCCTCTTCC TCTTCCTCTTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566826	GGAAGAGG others(32): Show GGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18970.hp1 HG03239.hp1 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0216 a0002c0003t0001g0328 a0001c0001t0001g0216 a0002c0003t0001g0328	2	342	0.0059	-39	c.215 others(56): Show c.2150-458_2150-420delTTCTTCTTCTTCTTCTTCTTCCTCTTCC TCTTCCTCTTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566832	GGAAGAGG others(32): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0020 a0004c0007t0020	a0004c0007t0020g0135 a0004c0007t0020g0135	1	342	0.0029	-39	c.215 others(56): Show c.2150-464_2150-426delTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCCTCTTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644863	CATATATA others(32): Show CATATATATCACATATATATATCACATATATATATCACAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01074.hp2 others(31): Show HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01192.hp1 HG01255.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02083.hp2 HG02148.hp2 HG02486.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18984.hp1 NA18999.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp1	a0000 a0001 a0002 others(6): Show a0000 a0001 a0002 a0003 a0004 a0006 a0016 a0023 a0032	a0000c0014 a0000c0026 a0001c0001 others(8): Show a0000c0014 a0000c0026 a0001c0001 a0002c0004 a0002c0021 a0003c0002 a0004c0008 a0006c0012 a0016c0073 a0023c0070 a0032c0071	a0000c0014t0034 a0000c0026t0014 a0001c0001t0001 others(13): Show a0000c0014t0034 a0000c0026t0014 a0001c0001t0001 a0001c0001t0042 a0001c0001t0044 a0001c0001t0049 a0002c0004t0001 a0002c0021t0003 a0003c0002t0001 a0003c0002t0002 a0003c0002t0046 a0004c0008t0006 a0006c0012t0001 a0016c0073t0001 a0023c0070t0001 a0032c0071t0001	a0000c0014t0034g0190 a0000c0026t0014g0188 a0001c0001t0001g0161 others(31): Show a0000c0014t0034g0190 a0000c0026t0014g0188 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0257 a0001c0001t0001g0274 a0001c0001t0042g0261 a0001c0001t0044g0184 a0001c0001t0049g0169 a0002c0004t0001g0158 a0002c0004t0001g0159 a0002c0004t0001g0160 a0002c0004t0001g0164 a0002c0004t0001g0173 a0002c0004t0001g0174 a0002c0004t0001g0186 a0002c0021t0003g0181 a0003c0002t0001g0163 a0003c0002t0001g0166 a0003c0002t0001g0168 a0003c0002t0001g0175 a0003c0002t0001g0273 a0003c0002t0002g0177 a0003c0002t0046g0272 a0004c0008t0006g0187 a0004c0008t0006g0258 a0006c0012t0001g0170 a0016c0073t0001g0157 a0023c0070t0001g0165 a0032c0071t0001g0171	34	342	0.0994	-39	c.136 others(56): Show c.136-2812_136-2774delATGTGATATATATATGTGATATATATAT GTGATATATAT		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644917	TATATATC others(32): Show TATATATCACATATATATATCACATATATATATATCACAC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0128 a0003c0005t0005g0128	1	342	0.0029	-39	c.136 others(56): Show c.136-2866_136-2828delGTGTGATATATATATATGTGATATATAT ATGTGATATAT		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13						chr10	TogoVar
ITPR1_chr3_4488348_4852506	4807102	AGAGGGGG others(32): Show AGAGGGGGGCTTACAAAGAGAGGGGGGCTTACAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01071.hp2 HG01175.hp1 others(18): Show HG00673.hp2 HG01071.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01496.hp2 HG02148.hp1 HG02523.hp2 HG02683.hp2 HG03017.hp1 HG03239.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp1 NA18945.hp1 NA18960.hp2 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA19074.hp1 NA21309.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0013 a0001c0015 a0001c0030 a0001c0045 a0001c0054 a0001c0071 a0001c0079 a0001c0087 a0001c0089 a0001c0100 a0003c0052 a0005c0072 a0007c0077 a0008c0078	a0001c0001t0005 a0001c0001t0012 a0001c0002t0002 others(18): Show a0001c0001t0005 a0001c0001t0012 a0001c0002t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0013t0003 a0001c0015t0001 a0001c0030t0001 a0001c0045t0005 a0001c0054t0001 a0001c0071t0001 a0001c0079t0002 a0001c0087t0002 a0001c0089t0002 a0001c0100t0006 a0003c0052t0008 a0005c0072t0002 a0007c0077t0001 a0008c0078t0001	a0001c0001t0005g0089 a0001c0001t0012g0083 a0001c0002t0002g0074 others(18): Show a0001c0001t0005g0089 a0001c0001t0012g0083 a0001c0002t0002g0074 a0001c0003t0003g0155 a0001c0005t0001g0167 a0001c0005t0002g0140 a0001c0008t0001g0006 a0001c0013t0003g0138 a0001c0015t0001g0051 a0001c0030t0001g0063 a0001c0045t0005g0159 a0001c0054t0001g0046 a0001c0071t0001g0095 a0001c0079t0002g0105 a0001c0087t0002g0170 a0001c0089t0002g0071 a0001c0100t0006g0079 a0003c0052t0008g0164 a0005c0072t0002g0104 a0007c0077t0001g0096 a0008c0078t0001g0143	21	176	0.1193	-39	c.727 others(56): Show c.7272+837_7272+875delAGGGGGGCTTACAAAGAGAGGGGGGCTT ACAAAGAGAGG		ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	55/61					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITSN1_chr21_33637501_33904861	33822411	TAAATGGT others(32): Show TAAATGGTGATTTTTCTGTTGCTTTAAAAAAATACATACA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0057 a0001c0002t0007g0057	1	242	0.0041	-39	c.301 others(58): Show c.3017-1072_3017-1034delTGGTGATTTTTCTGTTGCTTTAAAAA AATACATACAAAA		ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	24/39					INFO_REALIGN_3_PRIME	chr21	TogoVar
JAK2_chr9_4980272_5134948	5041577	GTGCGGCG others(32): Show GTGCGGCGCCTGGACTTTGAGAAGCCCGACTGTGACTACA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02809.hp2 others(1): Show HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0008 a0001c0002t0012g0009 a0001c0002t0012g0010 others(1): Show a0001c0002t0012g0008 a0001c0002t0012g0009 a0001c0002t0012g0010 a0001c0002t0012g0359	4	364	0.0110	-39	c.351 others(56): Show c.351-2801_351-2763delCCGACTGTGACTACATGCGGCGCCTGGA CTTTGAGAAGC		JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	4/24					INFO_REALIGN_3_PRIME	chr9	TogoVar
JMJD1C_chr10_63162225_63470977	63337574	AAAAGAAA others(32): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp1 HG02895.hp1 others(5): Show HG01081.hp2 HG02257.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03139.hp2 HG03579.hp2 NA19043.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0108 a0007c0006t0001g0109 a0007c0006t0001g0110 others(5): Show a0007c0006t0001g0108 a0007c0006t0001g0109 a0007c0006t0001g0110 a0007c0006t0001g0111 a0007c0006t0001g0112 a0007c0006t0001g0113 a0007c0006t0001g0114 a0007c0006t0001g0115	8	310	0.0258	-39	c.333 others(58): Show c.333+42705_333+42743delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTT		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25						chr10	TogoVar
KAT2A_chr17_42108111_42126367	42118011	ACTGAAGC others(32): Show ACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG02615.hp2 HG02976.hp1 HG03098.hp2 others(10): Show HG02615.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03486.hp2 NA18906.hp1 NA18957.hp1 NA18977.hp1 NA19066.hp1 NA19077.hp2 NA19091.hp2 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0001 a0002c0002t0002 a0002c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0014t0001	a0002c0002t0001g0057 a0002c0002t0002g0007 a0002c0002t0002g0018 others(2): Show a0002c0002t0001g0057 a0002c0002t0002g0007 a0002c0002t0002g0018 a0002c0002t0002g0060 a0002c0014t0001g0027	13	354	0.0367	-39	c.118 others(51): Show c.1181-33_1186delCCCCCCATCCCTGACGTCTCTCTCTCTCCTCAG CTTCAG	p.Ala others(13): Show p.Ala394_Ser395del	KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding	8/18	1249/3115	1181/2514	394/837			chr17	TogoVar
KAZN_chr1_14593685_15123043	14681631	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	146	0.0069	-39	c.226 others(58): Show c.226+82410_226+82448delATATATATATATATATATATATATAT TTTTTTTTTTTTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681633	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	146	0.0069	-39	c.226 others(58): Show c.226+82412_226+82450delATATATATATATATATATATATATTT TTTTTTTTTTTTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681635	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01358.hp2 HG02738.hp1 HG01169.hp2 HG01358.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0006 a0001c0001 a0002c0004 a0002c0006	a0001c0001t0002 a0002c0004t0001 a0002c0006t0006 a0001c0001t0002 a0002c0004t0001 a0002c0006t0006	a0001c0001t0002g0035 a0002c0004t0001g0113 a0002c0006t0006g0036 a0001c0001t0002g0035 a0002c0004t0001g0113 a0002c0006t0006g0036	3	146	0.0206	-39	c.226 others(58): Show c.226+82414_226+82452delATATATATATATATATATATATTTTT TTTTTTTTTTTTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883376	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0141 a0001c0003t0004g0141	1	146	0.0069	-39	c.227 others(58): Show c.227-77305_227-77267delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNAB1_chr3_156115578_156543605	156126802	TACCTTAG others(32): Show TACCTTAGGGTTGTTACGGGAGCTCAAGTGACTTAAGTAA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	124	0.0081	-39	c.275 others(56): Show c.275+5917_275+5955delACCTTAGGGTTGTTACGGGAGCTCAAGT GACTTAAGTAA		KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13						chr3	TogoVar
KCNG2_chr18_79792938_79905100	79888370	ATCCTCCT others(32): Show ATCCTCCTCATGAGGCCGCGGTGGGGCCGGGACGGCGGCG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02074.hp1 HG02109.hp1 others(6): Show HG01952.hp1 HG02074.hp1 HG02109.hp1 HG02572.hp1 HG02717.hp1 HG03130.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0001g0136 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0001g0242 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0007t0001g0082	9	312	0.0289	-39	c.625 others(58): Show c.625-10526_625-10488delCGGGACGGCGGCGTCCTCCTCATGAG GCCGCGGTGGGGC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH1_chr1_210673314_211139148	211112122	TCACCGTC others(32): Show TCACCGTCTGGGAAGTTGGAGCGCCTCTGCCCCGCCACTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG01257.hp1 others(18): Show HG00099.hp1 HG00438.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG02004.hp1 HG02293.hp1 HG03239.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 NA18949.hp1 NA18950.hp2 NA18969.hp1 NA19007.hp1 NA19058.hp2 NA19062.hp2 NA19070.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0002t0001	a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0095 others(18): Show a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0006g0106 a0001c0001t0008g0105 a0001c0001t0018g0087 a0001c0002t0001g0012 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101	21	164	0.1281	-39	c.80- others(54): Show c.80-4784_80-4746delCAGTGGCGGGGCAGAGGCGCTCCAACTTCC CAGACGGTG		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	1/10						chr1	TogoVar
KCNIP4_chr4_20723606_21953772	21291868	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02451.hp2 HG02615.hp1 others(4): Show HG01106.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0004	a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0005g0034 others(4): Show a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0005g0034 a0001c0001t0009g0004 a0001c0001t0009g0057 a0001c0002t0004g0028 a0001c0002t0004g0071	7	80	0.0875	-39	c.62- others(58): Show c.62-409198_62-409160delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNJ6_chr21_37602373_37921457	37604948	TCATCCAC others(32): Show TCATCCACCCATCTACCCATCCACCCATCTACCCATCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0105 a0001c0001t0098g0105	1	198	0.0051	-39	c.20 others(52): Show c.20172_*20210delGTGGATGGGTAGATGGGTGGATGGGTAGATGG GTGGATG		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding					2424		chr21	TogoVar

Search by Variant

Search

Search Results (Total: 1684 hits)