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
ITIH2_chr10_7698316_7754520	7735687	TTTTGAGA others(24): Show TTTTGAGACAGAGTCTTGCTCTGTTTACCAGG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	377	0.0027	-31	c.195 others(48): Show c.1957+597_1957+627delTTTGAGACAGAGTCTTGCTCTGTTTACC AGG	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737580	TATATTCT others(24): Show TATATTCTATATTATATTCTATATTCTATAGA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19043.hp2 HG03453.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0251 a0001c0002t0001g0340 a0001c0001t0001g0251 a0001c0002t0001g0340	2	378	0.0053	-31	c.195 others(48): Show c.1958-985_1958-955delCTATAGAATATTCTATATTATATTCTAT ATT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITPRIPL1_chr2_96320317_96333353	96332245	ATCATTAT others(24): Show ATCATTATATAAGCCAGCTGCAGGCTGGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	362	0.0028	-31	c.39 others(42): Show c.3947_*3977delTCATTATATAAGCCAGCTGCAGGCTGGAAAG	ITPRIPL1	ENSG00000198885.10	transcript	ENST00000439118.3	protein_coding		3893		chr2	TogoVar
ITSN2_chr2_24197864_24365536	24206365	CCCGGCGG others(24): Show CCCGGCGGGAAGGAAGGTGGAGATGCAGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00741.hp1 others(31): Show HG00140.hp2 HG00558.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp2 HG01257.hp2 HG01433.hp2 HG02056.hp1 HG02135.hp2 HG02165.hp1 HG02486.hp1 HG02698.hp2 HG02723.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 NA18943.hp1 NA18945.hp1 NA18956.hp2 NA18964.hp2 NA18969.hp1 NA18989.hp2 NA18993.hp2 NA19002.hp1 NA19007.hp1 NA19011.hp1 NA19064.hp2 NA19066.hp2 NA19077.hp1 NA20905.hp2	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0002c0024 a0003c0007 others(2): Show a0002c0002 a0002c0024 a0003c0007 a0003c0016 a0009c0009	a0002c0002t0001 a0002c0024t0001 a0003c0007t0001 others(2): Show a0002c0002t0001 a0002c0024t0001 a0003c0007t0001 a0003c0016t0001 a0009c0009t0001	a0002c0002t0001g0035 a0002c0002t0001g0160 a0002c0002t0001g0161 others(31): Show a0002c0002t0001g0035 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0024t0001g0180 a0003c0007t0001g0036 a0003c0007t0001g0037 a0003c0016t0001g0201 a0009c0009t0001g0163	34	220	0.1545	-31	c.467 others(50): Show c.4679-1099_4679-1069delCCCCCTGCATCTCCACCTTCCTTCCC GCCGG	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	37/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24206374	AAGGAAGG others(24): Show AAGGAAGGTGGAGATGCAGGGGGCCGGCGGGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18952.hp2 NA18522.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0082 a0001c0001t0001g0034 a0001c0001t0001g0082	2	221	0.0090	-31	c.467 others(50): Show c.4679-1108_4679-1078delCCCCGCCGGCCCCCTGCATCTCCACC TTCCT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	37/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24297529	GTCTTTTT others(24): Show GTCTTTTTAATAGTAGAATCTTTTTTTTTCCA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03710.hp2 HG01516.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0076 a0001c0001t0001g0081	2	222	0.0090	-31	c.149 others(50): Show c.1494+1105_1494+1135delTGGAAAAAAAAAGATTCTACTATTAA AAAGA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	13/39			chr2	TogoVar
JADE3_chrX_46907421_47066242	46940640	GACCTCAG others(24): Show GACCTCAGCCTGACATTGTCCCTTACCCCTAT	G G	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	256	0.0039	-31	c.-12 others(50): Show c.-12+27923_-12+27953delCCTCAGCCTGACATTGTCCCTTACCC CTATA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAKMIP1_chr4_6021199_6205549	6126136	CACAAACA others(24): Show CACAAACACACACCATGCAGAAACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02257.hp1 HG02451.hp2 others(14): Show HG00735.hp1 HG02257.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0052 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0092 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0150	17	232	0.0733	-31	c.-14 others(52): Show c.-147-13170_-147-13140delATGTGTGTGTTTCTGCATGGTGTG TGTTTGT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JMJD7_chr15_41823092_41842581	41827173	AATCCCAG others(24): Show AATCCCAGCTACTCGGGAGGTTTAGGCAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(50): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG02055.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18950.hp1 NA18961.hp2 NA19062.hp1 NA20805.hp1 NA20905.hp1	a0001 a0008 a0012 a0001 a0008 a0012	a0001c0001 a0008c0008 a0012c0011 a0001c0001 a0008c0008 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0008c0008t0001 a0012c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0007g0004 a0008c0008t0001g0070 a0008c0008t0001g0071 a0012c0011t0001g0007	53	384	0.1380	-31	c.-95 others(40): Show c.-951_-921delATCCCAGCTACTCGGGAGGTTTAGGCAGGAG	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding		918		chr15	TogoVar
JMJD8_chr16_676670_689334	679958	GGCTGGGG others(24): Show GGCTGGGGGCGGGGCCTCTGGATTGGGCGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA20300.hp1 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0012	2	341	0.0059	-31	c.28 others(42): Show c.2805_*2835delAGCCGCCCAATCCAGAGGCCCCGCCCCCAGC	JMJD8	ENSG00000161999.13	transcript	ENST00000609261.6	protein_coding		1711		chr16	TogoVar
KALRN_chr3_124028369_124731325	124361778	TGGGGTGG others(24): Show TGGGGTGGGGAGTAGTGATGGTGGCAGCAGTG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp1 NA18522.hp2 HG02559.hp2 HG02965.hp1 NA18522.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0060 a0003c0053 a0007c0052 a0001c0060 a0003c0053 a0007c0052	a0001c0060t0006 a0003c0053t0004 a0007c0052t0008 a0001c0060t0006 a0003c0053t0004 a0007c0052t0008	a0001c0060t0006g0099 a0003c0053t0004g0094 a0007c0052t0008g0074 a0001c0060t0006g0099 a0003c0053t0004g0094 a0007c0052t0008g0074	3	112	0.0268	-31	c.177 others(52): Show c.1770+14574_1770+14604delTGGGGGTGGGGAGTAGTGATGGTG GCAGCAG	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	10/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02970.hp1 HG01243.hp2 HG02145.hp2 HG02970.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0029 a0003c0004t0015 a0001c0001t0029 a0003c0004t0015	a0001c0001t0029g0256 a0003c0004t0015g0008 a0003c0004t0015g0009 a0001c0001t0029g0256 a0003c0004t0015g0008 a0003c0004t0015g0009	3	100	0.0300	-31	c.175 others(50): Show c.1755+5732_1755+5762delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14			chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210079634	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp2 HG03017.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0143 a0001c0001t0008g0004 a0001c0001t0001g0143 a0001c0001t0008g0004	2	204	0.0098	-31	c.155 others(50): Show c.1551-3909_1551-3879delATATATATATATATATATATATATAT ATATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14			chr2	TogoVar
KASH5_chr19_49383249_49422990	49386759	AGGGGAAG others(24): Show AGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02818.hp1 HG02965.hp2 others(5): Show HG01884.hp2 HG02818.hp1 HG02965.hp2 HG03041.hp2 HG03225.hp2 HG03516.hp1 NA18906.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0002 a0002c0002t0001 a0002c0004t0001 a0001c0001t0002 a0002c0002t0001 a0002c0004t0001	a0001c0001t0002g0249 a0002c0002t0001g0007 a0002c0002t0001g0035 others(3): Show a0001c0001t0002g0249 a0002c0002t0001g0007 a0002c0002t0001g0035 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0004t0001g0130	8	352	0.0227	-31	c.-16 others(42): Show c.-1663_-1633delGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAG	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		1489		chr19	TogoVar
KAT2A_chr17_42108111_42126367	42125812	CTGGGTTG others(24): Show CTGGGTTGTTCTCCTGGAGGTCCACACCTCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	-31	c.-45 others(42): Show c.-4539_-4509delCCGAGGTGTGGACCTCCAGGAGAACAACCCA	KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding		4446		chr17	TogoVar
KAT2B_chr3_20035446_20159404	20106987	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp1 HG03516.hp2 others(2): Show HG01192.hp2 HG01361.hp1 HG03516.hp2 HG03704.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0005 a0001c0001t0001g0180 a0001c0001t0004g0215 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0180 a0001c0001t0004g0215 a0001c0002t0002g0135 a0001c0002t0004g0043	5	329	0.0152	-31	c.852 others(48): Show c.852-4607_852-4577delATATATATATATATATATATATATATAT TTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106989	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03831.hp2 HG02965.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0272 a0001c0002t0001g0156 a0001c0001t0001g0272 a0001c0002t0001g0156	2	287	0.0070	-31	c.852 others(48): Show c.852-4605_852-4575delATATATATATATATATATATATATATTT TTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106991	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp2 NA18947.hp2 HG01243.hp1 HG01516.hp2 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0089 a0001c0002t0001g0151 a0002c0003t0003g0190 a0001c0002t0001g0089 a0001c0002t0001g0151 a0002c0003t0003g0190	3	341	0.0088	-31	c.852 others(48): Show c.852-4603_852-4573delATATATATATATATATATATATATTTTT TTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106993	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01257.hp2 others(2): Show HG00642.hp1 HG00738.hp2 HG01257.hp2 HG01346.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0147 others(2): Show a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0196 a0002c0003t0003g0163	5	360	0.0139	-31	c.852 others(48): Show c.852-4601_852-4571delATATATATATATATATATATATTTTTTT TTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAZN_chr1_14593685_15123043	14918690	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0094 a0001c0003t0004g0094	1	132	0.0076	-31	c.227 others(50): Show c.227-41992_227-41962delAAAAAAAAAAAAAAAAATATATATAT ATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918692	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02717.hp1 others(2): Show HG02109.hp1 HG02559.hp2 HG02717.hp1 HG03471.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0002c0002 a0001c0001 a0001c0018 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0018t0014 a0002c0002t0001	a0001c0001t0002g0130 a0001c0001t0004g0044 a0001c0001t0008g0043 others(2): Show a0001c0001t0002g0130 a0001c0001t0004g0044 a0001c0001t0008g0043 a0001c0018t0014g0140 a0002c0002t0001g0041	5	106	0.0472	-31	c.227 others(50): Show c.227-41990_227-41960delAAAAAAAAAAAAAAATATATATATAT ATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1969066	ATCTATTT others(24): Show ATCTATTTTACATGTTTCAGATTTAAAACATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(129): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp2 HG01255.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0009 a0006c0008 a0001c0001 a0001c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0036 a0001c0001t0042 a0001c0001t0049 a0001c0001t0052 a0001c0001t0054 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0071 a0001c0009t0006 a0006c0008t0050	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0188 others(126): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0276 a0001c0001t0002g0357 a0001c0001t0003g0030 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0080 a0001c0001t0003g0098 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0004g0027 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0006g0004 a0001c0001t0006g0032 a0001c0001t0006g0038 a0001c0001t0006g0063 a0001c0001t0006g0111 a0001c0001t0007g0209 a0001c0001t0008g0287 a0001c0001t0009g0040 a0001c0001t0010g0013 a0001c0001t0012g0333 a0001c0001t0012g0335 a0001c0001t0015g0081 a0001c0001t0017g0056 a0001c0001t0017g0083 a0001c0001t0018g0305 a0001c0001t0018g0359 a0001c0001t0019g0331 a0001c0001t0023g0322 a0001c0001t0023g0323 a0001c0001t0026g0130 a0001c0001t0026g0131 a0001c0001t0028g0100 a0001c0001t0028g0101 a0001c0001t0036g0225 a0001c0001t0042g0293 a0001c0001t0049g0292 a0001c0001t0052g0148 a0001c0001t0054g0358 a0001c0001t0059g0046 a0001c0001t0061g0052 a0001c0001t0063g0313 a0001c0001t0064g0037 a0001c0001t0065g0152 a0001c0001t0066g0068 a0001c0001t0068g0087 a0001c0001t0071g0005 a0001c0009t0006g0029 a0006c0008t0050g0308	132	388	0.3402	-31	c.-57 others(42): Show c.-5777_-5747delTCTATTTTACATGTTTCAGATTTAAAACATC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4610		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	2009744	AACCCCAG others(24): Show AACCCCAGGGGGTCAGATGCACTCAGCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0325 a0001c0001t0012g0325	1	388	0.0026	-31	c.66 others(42): Show c.6681_*6711delACCCCAGGGGGTCAGATGCACTCAGCCCCCC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		2809		chr8	TogoVar
KCNE2_chr21_34359006_34376381	34368236	ATATATAT others(24): Show ATATATATATATATATATATATATATGTATGT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp1 HG02895.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0093 a0001c0001t0001g0094	2	432	0.0046	-31	c.-12 others(48): Show c.-12-2221_-12-2191delATATATATATATATATGTATGTTATATA TAT	KCNE2	ENSG00000159197.4	transcript	ENST00000290310.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr21	TogoVar
KCNE2_chr21_34359006_34376381	34368246	ATATATAT others(24): Show ATATATATATATATATGTATGTTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03688.hp1 HG01192.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0040 a0001c0001t0001g0063	2	427	0.0047	-31	c.-12 others(48): Show c.-12-2217_-12-2187delATATATATATATGTATGTTATATATATG TAT	KCNE2	ENSG00000159197.4	transcript	ENST00000290310.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr21	TogoVar
KCNG2_chr18_79792938_79905100	79830812	CCTGCATA others(24): Show CCTGCATACAGAGCCTTCGTCAGGAGCGTTCT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	310	0.0032	-31	c.-11 others(52): Show c.-114-25562_-114-25532delATACAGAGCCTTCGTCAGGAGCGT TCTCTGC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79831647	GCCCTGCG others(24): Show GCCCTGCGGACAGAGCCTTCGTCAGGAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp1 HG02055.hp2 others(12): Show HG01081.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02615.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0007t0001 a0001c0001t0001 a0001c0001t0007 a0001c0007t0001	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0029 others(12): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0294 a0001c0001t0007g0028 a0001c0007t0001g0295	15	309	0.0485	-31	c.-11 others(52): Show c.-114-24681_-114-24651delGTCAGGAGGGTTCCCTGCGGACAG AGCCTTC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79831698	GTCAGGAG others(24): Show GTCAGGAGGGTTCCCTGCGGACAGAGCCTTCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01515.hp2 others(14): Show HG00280.hp2 HG00741.hp1 HG01515.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG03130.hp1 HG03471.hp2 HG04184.hp2 NA18999.hp1 NA19064.hp1 NA19074.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0058 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0058 a0001c0001t0001g0156 a0001c0003t0001g0035 a0001c0003t0001g0071 a0001c0003t0001g0120 a0001c0003t0001g0134 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0003t0001g0154 a0001c0003t0001g0180 a0001c0005t0001g0009 a0001c0005t0001g0197 a0001c0005t0001g0198 a0001c0005t0001g0225 a0001c0005t0001g0230	17	310	0.0548	-31	c.-11 others(52): Show c.-114-24651_-114-24621delCATCAGGAGGGTTCCCTGCGGACA GAGCCTT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79831728	CATCAGGA others(24): Show CATCAGGAGGGTTCCCTGCGGACAGAGCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02451.hp2 HG03098.hp2 others(6): Show HG01106.hp2 HG02451.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp1 HG03834.hp1 NA18522.hp2 NA20129.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 others(6): Show a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0202 a0002c0002t0002g0062 a0002c0002t0002g0066 a0002c0002t0002g0101 a0002c0002t0002g0122 a0002c0002t0002g0310	9	310	0.0290	-31	c.-11 others(52): Show c.-114-24650_-114-24620delATCAGGAGGGTTCCCTGCGGACAG AGCCTTT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3			chr18	TogoVar
KCNH8_chr3_19143510_19540642	19367406	TTATATAT others(24): Show TTATATATATATCAGAAATATATATATCATAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	130	0.0077	-31	c.811 others(50): Show c.811+19492_811+19522delTATATATCATAATATATATATATCAG AAATA	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	21291864	AAAAAAAG others(24): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	80	0.0125	-31	c.62- others(50): Show c.62-409186_62-409156delCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21291868	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	69	0.0145	-31	c.62- others(50): Show c.62-409190_62-409160delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ16_chr17_70070225_70140608	70117352	CACCAAAC others(24): Show CACCAAACCTCAGCATCACACAATATACCTGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02809.hp2 HG03579.hp2 others(1): Show HG01109.hp1 HG02809.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0052 a0001c0001t0002g0116 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0052 a0001c0001t0002g0116 a0001c0001t0002g0313	4	328	0.0122	-31	c.-19 others(52): Show c.-190-13494_-190-13464delCCAAACCTCAGCATCACACAATAT ACCTGAA	KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNK2_chr1_215077737_215242090	215093793	ATATAATA others(24): Show ATATAATATAAAATATATTATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03195.hp2 NA19240.hp1 HG02055.hp2 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0064 a0001c0001t0001 a0001c0001t0050 a0001c0001t0064	a0001c0001t0001g0241 a0001c0001t0050g0258 a0001c0001t0064g0257 a0001c0001t0001g0241 a0001c0001t0050g0258 a0001c0001t0064g0257	3	258	0.0116	-31	c.357 others(48): Show c.357+7120_357+7150delATATAAAATATATTATATATTATATATT ATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMA1_chr10_76879882_77642808	77170466	GGAGGTGA others(24): Show GGAGGTGAGGCTCCATCCCTGGGAGAAGGTCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00597.hp1 others(89): Show HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00597.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0002c0006 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0017 a0001c0002t0018 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0003 a0001c0007t0002 a0001c0008t0001 a0002c0006t0003 a0003c0009t0001	a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 others(89): Show a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0079 a0001c0001t0003g0090 a0001c0001t0004g0097 a0001c0001t0004g0100 a0001c0001t0004g0103 a0001c0001t0005g0072 a0001c0001t0005g0075 a0001c0001t0005g0092 a0001c0001t0006g0062 a0001c0001t0006g0093 a0001c0001t0007g0025 a0001c0001t0007g0087 a0001c0001t0009g0035 a0001c0001t0014g0037 a0001c0001t0015g0007 a0001c0001t0016g0064 a0001c0001t0019g0104 a0001c0001t0020g0099 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0046 a0001c0002t0001g0055 a0001c0002t0001g0061 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0020 a0001c0002t0002g0041 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0056 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0003g0003 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0057 a0001c0002t0003g0067 a0001c0002t0004g0101 a0001c0002t0004g0105 a0001c0002t0004g0106 a0001c0002t0006g0032 a0001c0002t0007g0091 a0001c0002t0008g0096 a0001c0002t0008g0102 a0001c0002t0010g0086 a0001c0002t0012g0050 a0001c0002t0013g0013 a0001c0002t0017g0045 a0001c0002t0018g0098 a0001c0003t0001g0080 a0001c0003t0003g0024 a0001c0003t0003g0082 a0001c0004t0001g0036 a0001c0004t0001g0063 a0001c0004t0003g0021 a0001c0005t0001g0033 a0001c0005t0003g0015 a0001c0007t0002g0014 a0001c0008t0001g0004 a0002c0006t0003g0001 a0003c0009t0001g0094	92	106	0.8679	-31	c.808 others(50): Show c.808+12924_808+12954delTGACCTTCTCCCAGGGATGGAGCCTC ACCTC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	5/27			chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178568758	TGATAGAT others(24): Show TGATAGATAGATAGATGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	223	0.0045	-31	c.-68 others(50): Show c.-68+32063_-68+32093delGATAGATAGATAGATAGATAGATAGA TAGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178568831	TGATAGAT others(24): Show TGATAGATAGATAGATAGATAGATGATAGATA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18979.hp2 NA19068.hp1 others(1): Show NA18960.hp2 NA18979.hp2 NA19068.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0076 a0001c0001t0002g0151 a0001c0001t0003g0145 others(1): Show a0001c0001t0002g0076 a0001c0001t0002g0151 a0001c0001t0003g0145 a0001c0002t0001g0144	4	199	0.0201	-31	c.-68 others(50): Show c.-68+32144_-68+32174delGATAGATAGATAGATAGATAGATAGA TAGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759058	TATATATA others(24): Show TATATATATATATATATATATCTCCAAGAGGG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp2 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0228 a0001c0001t0002g0080 a0001c0001t0002g0228	2	209	0.0096	-31	c.-67 others(50): Show c.-67-48270_-67-48240delATATATCTCCAAGAGGGATATATATA TATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178760278	ATCTATAT others(24): Show ATCTATATATAGATATATCCAAGAGGATATAT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	232	0.0043	-31	c.-67 others(50): Show c.-67-47064_-67-47034delTCTATATATAGATATATCCAAGAGGA TATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNN2_chr5_114357070_114501496	114379625	TATTATAT others(24): Show TATTATATATTTGTAGAATATATTATATAACA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	248	0.0040	-31	c.121 others(52): Show c.1218+15625_1218+15655delATTATATATTTGTAGAATATATTA TATAACA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7			chr5	TogoVar
KCNN2_chr5_114357070_114501496	114443504	TGCCTTGC others(24): Show TGCCTTGCTTCCACAGTCTAAATCAGATTGAA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0011 a0004c0008t0001g0011	1	243	0.0041	-31	c.163 others(52): Show c.1638-19543_1638-19513delCCTTGCTTCCACAGTCTAAATCAG ATTGAAG	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN3_chr1_154692455_154875281	154826529	CTGTCTGC others(24): Show CTGTCTGCCTCCAGGTTCCATTGCCCCGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00639.hp1 others(37): Show HG00280.hp2 HG00323.hp1 HG00639.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03688.hp1 HG03704.hp2 HG06807.hp1 NA18906.hp1 NA19003.hp1 NA19007.hp2 NA19043.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0008 a0002c0002 others(17): Show a0001c0001 a0001c0008 a0002c0002 a0002c0009 a0002c0010 a0003c0003 a0003c0007 a0003c0027 a0004c0006 a0005c0011 a0005c0015 a0006c0013 a0006c0031 a0007c0017 a0007c0020 a0007c0021 a0008c0016 a0008c0019 a0010c0018 a0011c0024	a0001c0001t0004 a0001c0001t0018 a0001c0001t0021 others(37): Show a0001c0001t0004 a0001c0001t0018 a0001c0001t0021 a0001c0001t0062 a0001c0008t0001 a0001c0008t0005 a0001c0008t0018 a0001c0008t0049 a0002c0002t0003 a0002c0002t0004 a0002c0009t0001 a0002c0009t0003 a0002c0009t0117 a0002c0009t0118 a0002c0010t0111 a0003c0003t0074 a0003c0003t0100 a0003c0003t0101 a0003c0007t0012 a0003c0007t0112 a0003c0027t0007 a0004c0006t0001 a0004c0006t0008 a0004c0006t0017 a0005c0011t0046 a0005c0015t0092 a0006c0013t0017 a0006c0013t0020 a0006c0013t0053 a0006c0031t0001 a0007c0017t0005 a0007c0020t0078 a0007c0020t0081 a0007c0020t0085 a0007c0021t0079 a0007c0021t0097 a0008c0016t0003 a0008c0019t0013 a0010c0018t0090 a0011c0024t0102	a0001c0001t0004g0109 a0001c0001t0018g0104 a0001c0001t0021g0061 others(37): Show a0001c0001t0004g0109 a0001c0001t0018g0104 a0001c0001t0021g0061 a0001c0001t0062g0086 a0001c0008t0001g0087 a0001c0008t0005g0060 a0001c0008t0018g0115 a0001c0008t0049g0102 a0002c0002t0003g0123 a0002c0002t0004g0150 a0002c0009t0001g0149 a0002c0009t0003g0155 a0002c0009t0117g0231 a0002c0009t0118g0229 a0002c0010t0111g0230 a0003c0003t0074g0161 a0003c0003t0100g0164 a0003c0003t0101g0172 a0003c0007t0012g0185 a0003c0007t0112g0234 a0003c0027t0007g0173 a0004c0006t0001g0032 a0004c0006t0008g0031 a0004c0006t0017g0042 a0005c0011t0046g0201 a0005c0015t0092g0203 a0006c0013t0017g0018 a0006c0013t0020g0017 a0006c0013t0053g0019 a0006c0031t0001g0022 a0007c0017t0005g0216 a0007c0020t0078g0215 a0007c0020t0081g0222 a0007c0020t0085g0223 a0007c0021t0079g0221 a0007c0021t0097g0217 a0008c0016t0003g0214 a0008c0019t0013g0208 a0010c0018t0090g0189 a0011c0024t0102g0006	40	236	0.1695	-31	c.934 others(48): Show c.934-4376_934-4346delCAGGCGGGGCAATGGAACCTGGAGGCAG ACA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/7			chr1	TogoVar
KCNQ1_chr11_2440008_2854105	2814548	GGAGAAAT others(24): Show GGAGAAATGATGGATAGGTGGATGGGTAGATT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0164 a0001c0001t0010g0164	1	202	0.0050	-31	c.179 others(52): Show c.1795-33188_1795-33158delTGAGAAATGATGGATAGGTGGATG GGTAGAT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNRG_chr13_50010444_50025922	50015085	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	441	0.0023	-31	c.-40 others(40): Show c.-408_-378delAAAAAAAAAATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		358		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015089	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 NA18977.hp1 HG02155.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	419	0.0048	-31	c.-40 others(40): Show c.-404_-374delAAAAAATATATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		354		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015091	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	421	0.0024	-31	c.-40 others(40): Show c.-402_-372delAAAATATATATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		352		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015093	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18951.hp1 NA18956.hp2 others(5): Show NA18946.hp1 NA18951.hp1 NA18956.hp2 NA18991.hp1 NA19064.hp1 NA19068.hp2 NA19080.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005	8	308	0.0260	-31	c.-40 others(40): Show c.-400_-370delAATATATATATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		350		chr13	TogoVar
KCNS3_chr2_17873667_17937958	17888625	AAATGTAT others(24): Show AAATGTATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0104 a0004c0008t0001g0104	1	374	0.0027	-31	c.-25 others(50): Show c.-252+9821_-252+9851delATGTATATATATATATATATATATAT ATATA	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNT2_chr1_196220779_196613440	196293617	ATTGGACC others(24): Show ATTGGACCTTATCTCATGCTATATGCAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01346.hp1 HG02258.hp2 HG02293.hp1 HG02647.hp1 HG02809.hp2 HG02886.hp2 HG03669.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA19009.hp2 NA19062.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 others(18): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0007g0120	21	134	0.1567	-31	c.259 others(50): Show c.2596-7890_2596-7860delATTTTTGCATATAGCATGAGATAAGG TCCAA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	22/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196596071	TATATATA others(24): Show TATATATATATATATATATATATATATATATC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20300.hp2 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0130 a0001c0001t0001g0131	2	134	0.0149	-31	c.95+ others(48): Show c.95+12113_95+12143delGATATATATATATATATATATATATATA TAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar

Search by Variant

Search

Search Results