Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IL17RD_chr3_57084982_57170353	57127263	AATATATA others(39): Show AATATATATAAAAATATATATAAATATATATAAATATATATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG01891.hp2 others(6): Show HG01255.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02630.hp1 HG02922.hp2 HG02965.hp1 HG03453.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0012 a0002c0003t0054 a0002c0004t0019 others(2): Show a0002c0003t0012 a0002c0003t0054 a0002c0004t0019 a0002c0004t0048 a0002c0004t0051	a0002c0003t0012g0034 a0002c0003t0012g0059 a0002c0003t0012g0060 others(6): Show a0002c0003t0012g0034 a0002c0003t0012g0059 a0002c0003t0012g0060 a0002c0003t0012g0156 a0002c0003t0054g0021 a0002c0004t0019g0006 a0002c0004t0019g0007 a0002c0004t0048g0008 a0002c0004t0051g0020	9	322	0.0280	-46	c.127 others(63): Show c.127-6996_127-6951delATTTTTATATATATTTATATATATTTAT ATATATTTTTATATATAT	IL17RD	ENSG00000144730.19	transcript	ENST00000296318.12	protein_coding	1/12			chr3	TogoVar
IL1A_chr2_112768925_112789493	112776447	TGACCCGC others(39): Show TGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	218	0.0046	-46	c.616 others(63): Show c.616-1226_616-1181delGTGGTTGTGGGTTTTTGGGTAGGACATT CAGAGGAGGGGGCGGGTC	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
IL1RAPL1_chrX_28582446_29961718	29323711	TTTTATAT others(39): Show TTTTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	119	0.0084	-46	c.362 others(65): Show c.362+40496_362+40541delTTATATATATATATATATATATATAT ATATATATATATATATATAT	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29802901	ATGTGTAT others(39): Show ATGTGTATATATGTGTACATATATACATATATGTGTACATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	131	0.0076	-46	c.779 others(67): Show c.779-114562_779-114517delTGTGTATATATGTGTACATATATA CATATATGTGTACATATGTATG	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	6/10			chrX	TogoVar
IL23R_chr1_67161454_67264979	67227997	TCTTTCTT others(39): Show TCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19240.hp1 HG02451.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0009 a0001c0001t0004g0010	2	290	0.0069	-46	c.955 others(63): Show c.955+8268_955+8313delCTTTCTTTCTTTCTTTCTTTCTTCCTTT CTTTCTTTTCTTTCTTTC	IL23R	ENSG00000162594.17	transcript	ENST00000347310.10	protein_coding	7/10			chr1	TogoVar
IL23R_chr1_67161454_67264979	67228060	TCTCTGTC others(39): Show TCTCTGTCTCTCTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0035 a0002c0002t0003g0035	1	289	0.0035	-46	c.955 others(63): Show c.955+8331_955+8376delCTCTGTCTCTCTCTTTCTTTCTTTTCTT TCTTTCTTTCTTTCTTTC	IL23R	ENSG00000162594.17	transcript	ENST00000347310.10	protein_coding	7/10			chr1	TogoVar
IMPG2_chr3_101217546_101325575	101239174	GCAATCTA others(39): Show GCAATCTATCCATCTGACAAAGGGCTAATATCCAGAATCTACAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18947.hp1 NA18963.hp2 others(3): Show NA18946.hp2 NA18947.hp1 NA18963.hp2 NA18966.hp1 NA18982.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0005 a0001c0001t0007g0106 a0001c0001t0007g0107 others(1): Show a0001c0001t0007g0005 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0010g0105	6	358	0.0168	-46	c.302 others(65): Show c.3022+3468_3022+3513delTCCTTGTAGATTCTGGATATTAGCCC TTTGTCAGATGGATAGATTG	IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	14/18			chr3	TogoVar
INSC_chr11_15109923_15252208	15229967	TATATATA others(39): Show TATATATATATATTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp2 NA18952.hp2 HG00609.hp2 HG00735.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0004g0133 a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0004g0133	3	264	0.0114	-46	c.117 others(65): Show c.1170+4152_1170+4197delTATATATATATATATATATATATATA TATATATAATATATATATAT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSR_chr19_7107265_7299414	7124562	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0174 a0001c0001t0139g0174	1	292	0.0034	-46	c.325 others(63): Show c.3258+675_3258+720delATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INTS7_chr1_211935403_212040557	211998654	CCTATAAA others(39): Show CCTATAAAAGAAAAAAACATTAATAAACTAGATAGATTTTATCAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01361.hp2 HG01496.hp1 HG01069.hp1 HG01361.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0200 a0001c0001t0003g0017 a0001c0001t0003g0200	3	350	0.0086	-46	c.879 others(63): Show c.879+7939_879+7984delTTTTGATAAAATCTATCTAGTTTATTAA TGTTTTTTTCTTTTATAG	INTS7	ENSG00000143493.13	transcript	ENST00000366994.8	protein_coding	7/19			chr1	TogoVar
IPCEF1_chr6_154149496_154361803	154357912	TATATATA others(39): Show TATATATAATATATATATAAAATATATATATATAATATATATATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02965.hp1 HG02886.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0156 a0001c0001t0001g0136 a0001c0001t0001g0156	2	262	0.0076	-46	c.-13 others(57): Show c.-1348_-1303delTTTATATATATATTATATATATATATTTTATATA TATATTATATAT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		1110		chr6	TogoVar
IPO11_chr5_62407763_62633582	62598430	TTCTCTCT others(39): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18968.hp1 NA19009.hp1 others(2): Show HG01943.hp1 NA18968.hp1 NA19009.hp1 NA19086.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0110 a0001c0001t0002g0115 others(2): Show a0001c0001t0002g0098 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0140 a0001c0001t0002g0160	5	265	0.0189	-46	c.267 others(65): Show c.2679-3314_2679-3269delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRX1_chr5_3590832_3606403	3604371	ATGGGTTT others(39): Show ATGGGTTTCCTATAGAAAAGTTCCCTTTTCTGGTTATACTGGGCTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	454	0.0022	-46	c.33 others(57): Show c.3332_*3377delTGGGTTTCCTATAGAAAAGTTCCCTTTTCTGGTT ATACTGGGCTTT	IRX1	ENSG00000170549.4	transcript	ENST00000302006.4	protein_coding		2969		chr5	TogoVar
ISG20_chr15_88634016_88661483	88646824	GCAGTGGC others(39): Show GCAGTGGCGCAGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGCTTA	G G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	434	0.0023	-46	c.229 others(63): Show c.229-5285_229-5240delCAGTGGCGCAGTCTTGGCTCACTGCAAC CTCCGCCTCCCAGGCTTA	ISG20	ENSG00000172183.16	transcript	ENST00000306072.10	protein_coding	2/3			chr15	TogoVar
ITGA9_chr3_37447141_37828507	37512124	CTTTTCTT others(39): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 NA18747.hp1 others(6): Show HG00609.hp1 HG00609.hp2 NA18747.hp1 NA18747.hp2 NA18952.hp2 NA18960.hp1 NA18980.hp1 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0005t0004	a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0003g0024 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0003g0024 a0001c0001t0003g0091 a0001c0001t0004g0012 a0001c0001t0004g0015 a0001c0001t0004g0075 a0001c0001t0006g0060 a0001c0005t0004g0093	9	158	0.0570	-46	c.898 others(63): Show c.898-1635_898-1590delTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAM_chr16_31254975_31337877	31302884	CTCTTTCT others(39): Show CTCTTTCTTTCTTTCTCTCTCTCTCTTTCCCTCCCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0172 a0010c0015t0001g0172	1	242	0.0041	-46	c.170 others(65): Show c.1707+4946_1707+4991delCTCTCTCTCTTTCCCTCCCTCTTTCT TTCTTTCTTTCTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334532	TTCCTTCC others(39): Show TTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0112 a0002c0003t0003g0112	1	242	0.0041	-46	c.28 others(57): Show c.2826_*2871delTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCC TTCCTTCCTTCC	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1656		chr16	TogoVar
ITIH1_chr3_52772599_52797062	52781204	TTTTTTTC others(39): Show TTTTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19085.hp2 NA18992.hp1 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	2	246	0.0081	-46	c.688 others(61): Show c.688-733_688-688delTTTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTT	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH5_chr10_7554270_7671966	7556067	CATATATA others(39): Show CATATATATATATGTATATATATATATATATATGTGTGTGTGTATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0020 a0015c0019t0020	a0015c0019t0020g0111 a0015c0019t0020g0111	1	203	0.0049	-46	c.69 others(57): Show c.6970_*7015delATATACACACACACATATATATATATATATATAC ATATATATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		3202		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690775	GTATATAT others(39): Show GTATATATATATATACATATATATATATATATATATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG06807.hp2 NA19043.hp2 HG02818.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0027 a0001c0002 a0001c0027	a0001c0002t0013 a0001c0002t0069 a0001c0027t0010 a0001c0002t0013 a0001c0002t0069 a0001c0027t0010	a0001c0002t0013g0241 a0001c0002t0069g0242 a0001c0027t0010g0240 a0001c0002t0013g0241 a0001c0002t0069g0242 a0001c0027t0010g0240	3	162	0.0185	-46	c.-32 others(65): Show c.-32-28007_-32-27962delCATATATATATATATATATATATATG TATATATATATATATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132173698	CCTGTGGT others(39): Show CCTGTGGTATGTTCATGGTGGTGTGTGTGTGGTGTGTCTGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01255.hp1 others(8): Show HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG02135.hp2 HG03017.hp1 HG03130.hp1 HG03654.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0006 a0002c0005 a0002c0025 others(4): Show a0001c0006 a0002c0005 a0002c0025 a0004c0046 a0005c0012 a0005c0050 a0009c0049	a0001c0006t0033 a0002c0005t0010 a0002c0025t0030 others(6): Show a0001c0006t0033 a0002c0005t0010 a0002c0025t0030 a0004c0046t0007 a0005c0012t0007 a0005c0012t0010 a0005c0012t0031 a0005c0050t0032 a0009c0049t0010	a0001c0006t0033g0057 a0002c0005t0010g0096 a0002c0025t0030g0103 others(8): Show a0001c0006t0033g0057 a0002c0005t0010g0096 a0002c0025t0030g0103 a0004c0046t0007g0091 a0005c0012t0007g0045 a0005c0012t0007g0046 a0005c0012t0007g0048 a0005c0012t0010g0004 a0005c0012t0031g0044 a0005c0050t0032g0116 a0009c0049t0010g0036	11	155	0.0710	-46	c.11 others(67): Show c.1103+4673_*1103+4718delATGTTCATGGTGGTGTGTGTGTGG TGTGTCTGTGGTGGTCTGTGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH3_chr16_87597508_87703156	87688439	TGTCTCCC others(39): Show TGTCTCCCAGACCTTCTCCTGCCAAAAGGTCAGACTGGGGTACAGGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01346.hp1 HG01884.hp1 others(32): Show HG00639.hp1 HG01346.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03516.hp1 HG03516.hp2 NA18906.hp2 NA18982.hp1 NA19030.hp1 NA19043.hp2 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0003 a0001c0005 a0001c0008 others(7): Show a0001c0003 a0001c0005 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0036 a0012c0028	a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 others(12): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0005t0034 a0001c0008t0001 a0001c0008t0005 a0001c0010t0002 a0001c0011t0002 a0001c0012t0001 a0001c0012t0002 a0001c0013t0005 a0001c0013t0017 a0001c0014t0001 a0001c0036t0005 a0012c0028t0002	a0001c0003t0001g0012 a0001c0003t0001g0095 a0001c0003t0001g0152 others(32): Show a0001c0003t0001g0012 a0001c0003t0001g0095 a0001c0003t0001g0152 a0001c0003t0001g0186 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0163 a0001c0003t0002g0166 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0005g0019 a0001c0003t0005g0029 a0001c0003t0005g0321 a0001c0005t0034g0100 a0001c0008t0001g0092 a0001c0008t0001g0313 a0001c0008t0005g0089 a0001c0008t0005g0090 a0001c0008t0005g0361 a0001c0010t0002g0049 a0001c0011t0002g0017 a0001c0011t0002g0094 a0001c0011t0002g0234 a0001c0011t0002g0328 a0001c0011t0002g0363 a0001c0012t0001g0018 a0001c0012t0002g0310 a0001c0012t0002g0360 a0001c0013t0005g0149 a0001c0013t0005g0315 a0001c0013t0017g0378 a0001c0014t0001g0366 a0001c0036t0005g0151 a0012c0028t0002g0022	35	377	0.0928	-46	c.128 others(65): Show c.1286-1160_1286-1115delGTCTCCCAGACCTTCTCCTGCCAAAA GGTCAGACTGGGGTACAGGC	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JTB_chr1_153969269_153982674	153982154	CTGGGAGG others(39): Show CTGGGAGGCTTGTTGCCGTTTCCCTAGAGGGAGAAGGGCACAGGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	-46	c.-49 others(57): Show c.-4948_-4903delACACCTGTGCCCTTCTCCCTCTAGGGAAACGGCA ACAAGCCTCCCA	JTB	ENSG00000143543.15	transcript	ENST00000271843.9	protein_coding		4481		chr1	TogoVar
KCNH2_chr7_150939961_150983321	150978891	AACACACA others(39): Show AACACACACACACACACACACACACACACACACACACACATACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02615.hp1 others(3): Show HG01243.hp1 HG02055.hp1 HG02615.hp1 HG02723.hp2 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0113 a0001c0002t0001g0111 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0113 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114	6	242	0.0248	-46	c.-10 others(56): Show c.-1024_-979delGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGT	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding		571		chr7	TogoVar
KCNJ3_chr2_154693695_154863354	154835421	TATATGAA others(39): Show TATATGAATATATAATATTCATGAATATGAATATATAATATTCATGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00673.hp1 others(63): Show HG00099.hp1 HG00423.hp2 HG00673.hp1 HG00741.hp1 HG01070.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG04184.hp1 NA18940.hp1 NA18948.hp2 NA18950.hp1 NA18964.hp2 NA18968.hp2 NA18972.hp1 NA18981.hp1 NA18983.hp2 NA18990.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0001t0027 a0001c0001t0050 a0001c0001t0051 a0001c0002t0012 a0001c0002t0036 a0001c0002t0037 a0001c0003t0003	a0001c0001t0001g0023 a0001c0001t0002g0013 a0001c0001t0002g0015 others(63): Show a0001c0001t0001g0023 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0202 a0001c0001t0002g0218 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0104 a0001c0001t0003g0117 a0001c0001t0003g0130 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0195 a0001c0001t0003g0209 a0001c0001t0003g0222 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0011g0241 a0001c0001t0016g0274 a0001c0001t0020g0084 a0001c0001t0020g0171 a0001c0001t0020g0208 a0001c0001t0027g0056 a0001c0001t0027g0092 a0001c0001t0050g0043 a0001c0001t0051g0258 a0001c0002t0012g0075 a0001c0002t0036g0044 a0001c0002t0037g0045 a0001c0003t0003g0003	66	166	0.3976	-46	c.920 others(65): Show c.920-19269_920-19224delATATTCATGAATATGAATATATAATA TTCATGAATATGAATATATA	KCNJ3	ENSG00000162989.5	transcript	ENST00000295101.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNMB2_chr3_178531436_178849429	178568816	TAATAGAT others(39): Show TAATAGATAGATAGATGATAGATAGATAGATAGATAGATGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01169.hp1 HG03688.hp2 HG01070.hp2 HG01169.hp1 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0143	3	190	0.0158	-46	c.-68 others(65): Show c.-68+32106_-68+32151delAATAGATAGATAGATGATAGATAGAT AGATAGATAGATGATAGATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNQ5_chr6_72617064_73203853	72941698	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0034 a0001c0011t0034	a0001c0011t0034g0003 a0001c0011t0034g0003	1	80	0.0125	-46	c.399 others(65): Show c.399-62208_399-62163delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCTD16_chr5_144165873_144490686	144299078	GTATATAT others(39): Show GTATATATATATCACTATGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02615.hp1 HG02809.hp2 HG01934.hp1 HG02615.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0062 a0001c0001t0018 a0001c0001t0062	a0001c0001t0018g0079 a0001c0001t0018g0100 a0001c0001t0062g0014 a0001c0001t0018g0079 a0001c0001t0018g0100 a0001c0001t0062g0014	3	109	0.0275	-46	c.832 others(65): Show c.832+91544_832+91589delCACTATGTATATATATATATATATAT ATATATATATATATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KDM1A_chr1_23014468_23088689	23017175	TTTTATAT others(39): Show TTTTATATATATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	2	219	0.0091	-46	c.-24 others(57): Show c.-2421_-2376delTTTATATATATATATATATATATATATATATATA TATATATATATA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2292		chr1	TogoVar
KDM4C_chr9_6752973_7180648	7019686	TTATAAAA others(39): Show TTATAAAAATATAATATTTTTATATATAAAAATATAATATTTTTATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00621.hp2 others(57): Show HG00408.hp2 HG00438.hp2 HG00621.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02080.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18957.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA19005.hp2 NA19043.hp2 NA19066.hp1 NA19070.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0014 a0015 a0020 a0022 a0026 a0031 a0036	a0001c0001 a0001c0002 a0002c0003 others(22): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008 a0003c0004 a0003c0007 a0005c0011 a0005c0012 a0005c0018 a0005c0061 a0006c0009 a0006c0047 a0006c0053 a0007c0038 a0011c0015 a0011c0058 a0012c0016 a0012c0036 a0014c0014 a0015c0026 a0020c0050 a0022c0054 a0026c0065 a0031c0049 a0036c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0008t0001 a0003c0004t0001 a0003c0004t0005 a0003c0007t0001 a0005c0011t0001 a0005c0011t0002 a0005c0012t0001 a0005c0012t0004 a0005c0018t0001 a0005c0061t0002 a0006c0009t0001 a0006c0009t0003 a0006c0047t0001 a0006c0053t0001 a0007c0038t0002 a0011c0015t0001 a0011c0015t0002 a0011c0058t0002 a0012c0016t0003 a0012c0036t0001 a0014c0014t0001 a0015c0026t0002 a0020c0050t0001 a0022c0054t0005 a0026c0065t0005 a0031c0049t0002 a0036c0040t0001	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0041 others(57): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0002g0170 a0001c0001t0002g0191 a0001c0001t0006g0259 a0001c0002t0002g0119 a0001c0002t0002g0121 a0002c0003t0001g0220 a0002c0003t0002g0016 a0002c0003t0002g0073 a0002c0008t0001g0178 a0002c0008t0001g0194 a0003c0004t0001g0192 a0003c0004t0001g0248 a0003c0004t0005g0078 a0003c0007t0001g0193 a0005c0011t0001g0201 a0005c0011t0002g0050 a0005c0011t0002g0113 a0005c0011t0002g0135 a0005c0012t0001g0039 a0005c0012t0001g0054 a0005c0012t0001g0179 a0005c0012t0001g0223 a0005c0012t0004g0264 a0005c0018t0001g0114 a0005c0018t0001g0116 a0005c0061t0002g0025 a0006c0009t0001g0152 a0006c0009t0001g0156 a0006c0009t0001g0157 a0006c0009t0003g0257 a0006c0047t0001g0163 a0006c0053t0001g0053 a0007c0038t0002g0030 a0011c0015t0001g0003 a0011c0015t0002g0130 a0011c0058t0002g0127 a0012c0016t0003g0253 a0012c0036t0001g0171 a0014c0014t0001g0128 a0015c0026t0002g0070 a0020c0050t0001g0071 a0022c0054t0005g0042 a0026c0065t0005g0246 a0031c0049t0002g0005 a0036c0040t0001g0172	60	154	0.3896	-46	c.225 others(65): Show c.2259+3815_2259+3860delAATATTTTTATATATAAAAATATAAT ATTTTTATATATAAAAATAT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM7A_chr7_140079746_140181983	140100665	TATATATA others(39): Show TATATATATATATATACATATATACATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG06807.hp1 NA18522.hp2 HG02809.hp1 HG06807.hp1 NA18522.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0005 a0002c0002t0014 a0005c0006t0007 a0002c0002t0005 a0002c0002t0014 a0005c0006t0007	a0002c0002t0005g0014 a0002c0002t0014g0022 a0005c0006t0007g0025 a0002c0002t0005g0014 a0002c0002t0014g0022 a0005c0006t0007g0025	3	342	0.0088	-46	c.163 others(63): Show c.1639-688_1639-643delGTGTATATATATATATATATATGTATAT ATGTATATATATATATAT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KDM7A_chr7_140079746_140181983	140100697	TATATATA others(39): Show TATATATATATACACATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp2 HG03225.hp2 HG02257.hp1 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0033 a0001c0001t0017g0034 a0001c0001t0017g0035 a0001c0001t0017g0033 a0001c0001t0017g0034 a0001c0001t0017g0035	3	342	0.0088	-46	c.163 others(63): Show c.1639-720_1639-675delGTATATATATATATATATATATATATAT ATATGTGTATATATATAT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KHDRBS2_chr6_61674961_62291225	61848486	TATATGTA others(39): Show TATATGTATATATATATATATATATGTATATATGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG02257.hp1 others(11): Show HG00741.hp1 HG01884.hp1 HG02257.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02965.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0003t0003 a0001c0003t0007 a0001c0001t0017 a0001c0003t0003 a0001c0003t0007	a0001c0001t0017g0218 a0001c0003t0003g0025 a0001c0003t0003g0026 others(11): Show a0001c0001t0017g0218 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0038 a0001c0003t0003g0039 a0001c0003t0003g0040 a0001c0003t0003g0128 a0001c0003t0003g0174 a0001c0003t0003g0175 a0001c0003t0007g0181 a0001c0003t0007g0219	14	241	0.0581	-46	c.810 others(65): Show c.810+46103_810+46148delGTATATATATATACATATATACATAT ATATATATATATATACATAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61955463	TGTGTATA others(39): Show TGTGTATATATACACATATGTATGTATGTATACATGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0130 a0001c0004t0001g0130	1	205	0.0049	-46	c.483 others(65): Show c.483+22557_483+22602delGTATATATACACATGTATACATACAT ACATATGTGTATATATACAC	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KIAA1217_chr10_24204138_24552843	24538582	AAGGAAGG others(39): Show AAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAGAGGAAGGAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00733.hp2 HG00738.hp1 others(36): Show HG00558.hp1 HG00733.hp2 HG00738.hp1 HG01257.hp1 HG01346.hp2 HG01952.hp1 HG02055.hp1 HG02056.hp2 HG02280.hp2 HG02559.hp1 HG02647.hp1 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18957.hp2 NA18963.hp2 NA18966.hp1 NA18985.hp1 NA18992.hp1 NA18999.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19088.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0017 a0001c0067 a0002c0002 a0002c0007 a0002c0021 a0002c0074 a0003c0023 a0003c0075 a0004c0092 a0005c0031 a0005c0032 a0007c0019 a0007c0072 a0009c0020	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0017t0003 a0001c0017t0004 a0001c0067t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0007t0001 a0002c0021t0001 a0002c0074t0001 a0003c0023t0002 a0003c0075t0002 a0004c0092t0002 a0005c0031t0004 a0005c0032t0002 a0007c0019t0004 a0007c0072t0002 a0009c0020t0001	a0001c0001t0001g0109 a0001c0001t0002g0102 a0001c0001t0002g0111 others(36): Show a0001c0001t0001g0109 a0001c0001t0002g0102 a0001c0001t0002g0111 a0001c0003t0001g0083 a0001c0003t0011g0065 a0001c0004t0001g0084 a0001c0004t0002g0071 a0001c0004t0002g0078 a0001c0004t0002g0233 a0001c0004t0003g0163 a0001c0004t0003g0192 a0001c0004t0003g0199 a0001c0017t0003g0088 a0001c0017t0004g0240 a0001c0067t0002g0030 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0141 a0002c0002t0001g0162 a0002c0002t0001g0169 a0002c0002t0001g0180 a0002c0002t0001g0211 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0003g0013 a0002c0002t0004g0135 a0002c0007t0001g0152 a0002c0021t0001g0064 a0002c0021t0001g0090 a0002c0074t0001g0204 a0003c0023t0002g0115 a0003c0075t0002g0129 a0004c0092t0002g0145 a0005c0031t0004g0122 a0005c0032t0002g0016 a0007c0019t0004g0138 a0007c0072t0002g0032 a0009c0020t0001g0140 a0009c0020t0001g0167	39	238	0.1639	-46	c.353 others(65): Show c.3534+1699_3534+1744delGGAAGGAAGGAAGGAAAAAGAGAGGA AGGAAAAAGAGAGGAAGGAA	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF15_chr3_44756794_44858256	44821261	CCCCCCAC others(39): Show CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCTGGCGGTGGGTGA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	230	0.0043	-46	c.255 others(65): Show c.2550-4766_2550-4721delCTCCTGGACGGGGCGGCTGGCCTGGC GGTGGGTGACCCCCACCTCC	KIF15	ENSG00000163808.17	transcript	ENST00000326047.9	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF1A_chr2_240708767_240825219	240779247	CAGTTCCA others(39): Show CAGTTCCACACTCAGTTCCTCACTCACTTCCTCACTCAGTTCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG00673.hp2 others(71): Show HG00544.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18964.hp2 NA18980.hp2 NA18999.hp1 NA19043.hp1 NA19081.hp1 NA19240.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0005 others(15): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0016 a0001c0021 a0001c0031 a0001c0034 a0001c0045 a0001c0046 a0001c0052 a0001c0053 a0002c0002 a0002c0008 a0002c0054 a0003c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(40): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0033 a0001c0001t0038 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0037 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0005 a0001c0006t0006 a0001c0006t0012 a0001c0006t0013 a0001c0006t0043 a0001c0007t0001 a0001c0007t0008 a0001c0011t0009 a0001c0011t0010 a0001c0011t0044 a0001c0016t0004 a0001c0016t0009 a0001c0021t0006 a0001c0031t0013 a0001c0034t0009 a0001c0045t0006 a0001c0046t0006 a0001c0052t0007 a0001c0053t0007 a0002c0002t0003 a0002c0008t0004 a0002c0054t0001 a0003c0010t0006 a0003c0010t0007	a0001c0001t0001g0090 a0001c0001t0004g0119 a0001c0001t0005g0120 others(71): Show a0001c0001t0001g0090 a0001c0001t0004g0119 a0001c0001t0005g0120 a0001c0001t0007g0063 a0001c0001t0016g0042 a0001c0001t0033g0167 a0001c0001t0038g0166 a0001c0004t0001g0010 a0001c0004t0001g0025 a0001c0004t0001g0138 a0001c0004t0001g0141 a0001c0004t0001g0177 a0001c0004t0001g0325 a0001c0004t0002g0139 a0001c0004t0004g0002 a0001c0004t0004g0168 a0001c0004t0005g0013 a0001c0004t0005g0067 a0001c0004t0005g0074 a0001c0004t0005g0156 a0001c0004t0006g0023 a0001c0004t0006g0134 a0001c0004t0006g0135 a0001c0004t0006g0274 a0001c0004t0037g0004 a0001c0005t0001g0189 a0001c0005t0001g0190 a0001c0005t0001g0192 a0001c0005t0004g0034 a0001c0005t0004g0035 a0001c0005t0004g0040 a0001c0005t0005g0033 a0001c0005t0007g0008 a0001c0005t0007g0019 a0001c0005t0007g0030 a0001c0005t0007g0038 a0001c0005t0007g0041 a0001c0005t0007g0137 a0001c0006t0001g0024 a0001c0006t0001g0028 a0001c0006t0002g0021 a0001c0006t0002g0092 a0001c0006t0005g0027 a0001c0006t0006g0029 a0001c0006t0012g0020 a0001c0006t0013g0022 a0001c0006t0013g0026 a0001c0006t0043g0061 a0001c0007t0001g0072 a0001c0007t0008g0073 a0001c0007t0008g0075 a0001c0011t0009g0149 a0001c0011t0009g0152 a0001c0011t0010g0150 a0001c0011t0044g0153 a0001c0016t0004g0032 a0001c0016t0009g0165 a0001c0021t0006g0133 a0001c0021t0006g0136 a0001c0031t0013g0145 a0001c0034t0009g0151 a0001c0045t0006g0287 a0001c0046t0006g0140 a0001c0052t0007g0039 a0001c0053t0007g0036 a0002c0002t0003g0117 a0002c0002t0003g0269 a0002c0008t0004g0007 a0002c0008t0004g0014 a0002c0054t0001g0143 a0003c0010t0006g0037 a0003c0010t0006g0126 a0003c0010t0006g0154 a0003c0010t0007g0127	74	327	0.2263	-46	c.882 others(63): Show c.882+3297_883-3322delATGAGGAACTGAGTGAGGAAGTGAGTGA GGAACTGAGTGTGGAACT	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240779319	CTTCCTCA others(39): Show CTTCCTCACTCAGTTCCTCATAGTTCCACACTCAGTTCCTCACTCAG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp2 HG02970.hp2 others(2): Show HG02647.hp2 HG02818.hp2 HG02970.hp2 HG03195.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0010 a0001c0018t0010 a0001c0001t0010 a0001c0018t0010	a0001c0001t0010g0005 a0001c0001t0010g0006 a0001c0001t0010g0018 others(2): Show a0001c0001t0010g0005 a0001c0001t0010g0006 a0001c0001t0010g0018 a0001c0018t0010g0003 a0001c0018t0010g0146	5	323	0.0155	-46	c.882 others(63): Show c.882+3225_882+3270delCTGAGTGAGGAACTGAGTGTGGAACTAT GAGGAACTGAGTGAGGAA	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781165	ACACACAC others(39): Show ACACACACACACACAGCTCCCCACACACACACACACACACACAGCTC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19240.hp2 HG02559.hp2 NA19240.hp2	a0001 a0001	a0001c0015 a0001c0050 a0001c0015 a0001c0050	a0001c0015t0004 a0001c0050t0005 a0001c0015t0004 a0001c0050t0005	a0001c0015t0004g0157 a0001c0050t0005g0164 a0001c0015t0004g0157 a0001c0050t0005g0164	2	327	0.0061	-46	c.882 others(63): Show c.882+1379_882+1424delGAGCTGTGTGTGTGTGTGTGTGTGTGGG GAGCTGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1B_chr1_10205570_10386603	10372642	CGCGCCAG others(39): Show CGCGCCAGCTTGGGTGACAGAGCTGTCACCCAAGCTGGCGCGCAGCG	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	298	0.0034	-46	c.494 others(65): Show c.4946+1385_4946+1430delCAGCTTGGGTGACAGAGCTGTCACCC AAGCTGGCGCGCAGCGGCGC	KIF1B	ENSG00000054523.20	transcript	ENST00000676179.1	protein_coding	45/48		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF21B_chr1_200964390_201028714	201004666	TGTCCAAG others(39): Show TGTCCAAGGAGGACTCAGCAGGTGTAGGACTGCAGGGCCTTGGAGGG	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0224 a0001c0003t0003g0224	1	340	0.0029	-46	c.900 others(59): Show c.900+54_900+99delCCCTCCAAGGCCCTGCAGTCCTACACCTGCTG AGTCCTCCTTGGAC	KIF21B	ENSG00000116852.15	transcript	ENST00000461742.7	protein_coding	6/34			chr1	TogoVar
KIF27_chr9_83829099_83926432	83848180	TATATGAT others(39): Show TATATGATATATATGATATATCAGATATGATATATATGATATATCAG	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0122 a0001c0001t0019g0122	1	251	0.0040	-46	c.355 others(65): Show c.3556+1873_3556+1918delCTGATATATCATATATATCATATCTG ATATATCATATATATCATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF4A_chrX_70285104_70425886	70393823	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	257	0.0039	-46	c.223 others(65): Show c.2233-1846_2233-1801delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	20/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KLHL1_chr13_69695597_70113452	69780699	TATGTATA others(39): Show TATGTATATATATATATGTATATATATATATATACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20300.hp2 HG02145.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0012 a0001c0002t0002 a0001c0002t0012	a0001c0002t0002g0113 a0001c0002t0012g0175 a0001c0002t0002g0113 a0001c0002t0012g0175	2	173	0.0116	-46	c.163 others(67): Show c.1639+15993_1639+16038delGTATATATATATGTATATATATAT ATATACATATATATATATACAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	7/10			chr13	TogoVar
KLHL8_chr4_87155103_87225618	87197197	GTGACTTG others(39): Show GTGACTTGCTTCTAATTGACGGAATGTGGGAAAGTGATGAGATGCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(81): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01978.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp2 NA18971.hp2 NA18988.hp1 NA18992.hp2 NA18994.hp2 NA19030.hp1 NA19063.hp1 NA19066.hp1 NA19082.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(6): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0003c0004t0003	a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(76): Show a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0240 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0007g0233 a0001c0001t0007g0234 a0001c0001t0007g0235 a0001c0001t0007g0236 a0001c0001t0007g0237 a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0007g0244 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0009g0148 a0001c0001t0009g0154 a0001c0001t0019g0139 a0001c0001t0019g0147 a0001c0001t0029g0181 a0001c0001t0031g0176 a0001c0001t0032g0145 a0001c0001t0037g0130 a0003c0004t0003g0127	84	362	0.2320	-46	c.-15 others(65): Show c.-151-1553_-151-1508delTGGCATCTCATCACTTTCCCACATTC CGTCAATTAGAAGCAAGTCA	KLHL8	ENSG00000145332.14	transcript	ENST00000273963.10	protein_coding	1/9			chr4	TogoVar
KMT2C_chr7_152129925_152441003	152436196	GGGCCGGC others(39): Show GGGCCGGCCGCGGGGCCCGGCGGGGGCGGCGAGGGGGTCGCGCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	170	0.0059	-46	c.-45 others(55): Show c.-456_-411delGGGGGCGCGACCCCCTCGCCGCCCCCGCCGGGCCCC GCGGCCGGCC	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding		194		chr7	TogoVar
KMT5C_chr19_55334876_55353121	55338515	TCTCTCTC others(39): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA18951.hp1 NA18984.hp2 others(4): Show HG02258.hp1 NA18951.hp1 NA18984.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0068 a0001c0001t0001g0009 a0001c0001t0002g0068	7	396	0.0177	-46	c.-15 others(57): Show c.-1585_-1540delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCACACACACA	KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding		1360		chr19	TogoVar
KNDC1_chr10_133155219_133231412	133185212	GGAGTAGG others(39): Show GGAGTAGGCAGTGTGTGCAGTGTGGAATAGGCAGTGTGTGCAGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02622.hp2 HG02965.hp1 HG01123.hp2 HG02622.hp2 HG02965.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0005 a0003c0016t0005	a0003c0016t0005g0019 a0003c0016t0005g0020 a0003c0016t0005g0224 a0003c0016t0005g0019 a0003c0016t0005g0020 a0003c0016t0005g0224	3	329	0.0091	-46	c.626 others(61): Show c.626-700_626-655delGCAGTGTGGAATAGGCAGTGTGTGCAGTGT AGAGTAGGCAGTGTGT	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133222409	ATGTGTGT others(39): Show ATGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0049 a0006c0010t0001g0049	1	329	0.0030	-46	c.501 others(65): Show c.5019-2213_5019-2168delCGTGTGTGTGTGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNL1_chr15_40589249_40669342	40665173	CAGGCGTG others(39): Show CAGGCGTGCACCTCCACACCCAGCTAATTTGTGTATTTTTGGTAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0020 a0020	a0020c0041 a0020c0041	a0020c0041t0001 a0020c0041t0001	a0020c0041t0001g0218 a0020c0041t0001g0218	1	368	0.0027	-46	c.29 others(57): Show c.2986_*3031delAGGCGTGCACCTCCACACCCAGCTAATTTGTGTA TTTTTGGTAGAG	KNL1	ENSG00000137812.21	transcript	ENST00000399668.7	protein_coding		832		chr15	TogoVar

Search by Variant

Search

Search Results