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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KANSL1L_chr2_210016421_210176409 | 210079638 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG03492.hp1 HG03654.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0136a0001c0001t0001g0148a0001c0001t0001g0152others(5): Show | 8 | 284 | 0.0282 | -32 | c.155 others(51): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46058739 | ACACACTC others(25): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0004 | a0003c0004t0025 | a0003c0004t0025g0321 | 1 | 321 | 0.0031 | -32 | c.184 others(51): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106961 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 374 | 0.0027 | -32 | c.852 others(49): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20106987 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01516.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0001a0002c0003t0003 | a0001c0001t0001g0001a0001c0001t0001g0137a0001c0001t0001g0139others(8): Show | 12 | 374 | 0.0321 | -32 | c.852 others(49): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20106989 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01255.hp2 NA18994.hp2 NA19082.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0002t0001a0002c0003t0003 | a0001c0001t0004g0196a0001c0001t0004g0197a0001c0002t0001g0060others(2): Show | 5 | 374 | 0.0134 | -32 | c.852 others(49): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20106991 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01361.hp2 HG02293.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061a0001c0002t0001g0199a0001c0002t0001g0203others(1): Show | 4 | 374 | 0.0107 | -32 | c.852 others(49): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20106993 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057a0001c0002t0001g0149 | 2 | 374 | 0.0054 | -32 | c.852 others(49): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KATNAL1_chr13_30197630_30312551 | 30274881 | GCACACAC others(25): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01515.hp2 |
a0001 | a0001c0002 | a0001c0002t0142a0001c0002t0144 | a0001c0002t0142g0221a0001c0002t0144g0222 | 2 | 386 | 0.0052 | -32 | c.323 others(49): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27661931 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03130.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0116a0001c0004t0001g0118 | 2 | 152 | 0.0132 | -32 | c.540 others(51): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KATNIP_chr16_27545144_27785344 | 27744772 | ACTCGGGA others(25): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0019 | a0019c0032 | a0019c0032t0003 | a0019c0032t0003g0001 | 1 | 152 | 0.0066 | -32 | c.262 others(51): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14829314 | GATAAGAA others(25): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0113 | 1 | 146 | 0.0069 | -32 | c.227 others(53): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14918691 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 | 1 | 146 | 0.0069 | -32 | c.227 others(51): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1971007 | AGGTAAGG others(25): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 389 | 0.0026 | -32 | c.-38 others(43): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 2669 | chr8 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72561746 | TGTATATA others(25): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005a0001c0001t0004g0053 | 2 | 164 | 0.0122 | -32 | c.-93 others(49): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120426622 | CTCTGTCG others(25): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp1 HG01192.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0014a0001c0001t0001g0035a0001c0001t0001g0041others(36): Show | 39 | 80 | 0.4875 | -32 | c.111 others(55): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCNE3_chr11_74449841_74472549 | 74468668 | TTTCCTTC others(25): Show |
T | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0099 | 1 | 446 | 0.0022 | -32 | c.-14 others(43): Show |
KCNE3 | ENSG00000175538.11 | transcript | ENST00000310128.9 | protein_coding | 1120 | chr11 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79866135 | TCTGGGTG others(25): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 312 | 0.0032 | -32 | c.624 others(49): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNH2_chr7_150939961_150983321 | 150978899 | CACACACA others(25): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(52): Show | 68 | 358 | 0.1899 | -32 | c.-10 others(42): Show |
KCNH2 | ENSG00000055118.17 | transcript | ENST00000262186.10 | protein_coding | 579 | chr7 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62817680 | AATTCTAG others(25): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0222 | 1 | 224 | 0.0045 | -32 | c.157 others(53): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 8/10 | chr14 | TogoVar | ||||||
KCNH8_chr3_19143510_19540642 | 19284524 | TGTGTGTG others(25): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 134 | 0.0075 | -32 | c.442 others(49): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19308689 | TCTCTCTC others(25): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02809.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0028a0001c0001t0001g0129a0001c0001t0007g0107 | 3 | 134 | 0.0224 | -32 | c.442 others(51): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNIP1_chr5_170499020_170741632 | 170674129 | GAGGAAGG others(25): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02055.hp1 HG02074.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0162a0001c0001t0002g0009a0001c0001t0002g0130others(5): Show | 8 | 218 | 0.0367 | -32 | c.62- others(49): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 20864161 | CATGTATG others(25): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01433.hp2 others(13): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0009a0001c0002t0001g0040a0001c0002t0001g0049others(13): Show | 16 | 80 | 0.2000 | -32 | c.164 others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 2/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20916985 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 80 | 0.0125 | -32 | c.62- others(49): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21291867 | AAAAGAAA others(25): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | -32 | c.62- others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21519554 | GTGTATGT others(25): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0075a0001c0001t0002g0015 | 2 | 80 | 0.0250 | -32 | c.61+ others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21528748 | AAAGAAAG others(25): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 80 | 0.0125 | -32 | c.61+ others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21528756 | AAAGAAAG others(25): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | -32 | c.61+ others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21528772 | AAAGAAAG others(25): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 80 | 0.0125 | -32 | c.61+ others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21530116 | CAGACAGT others(25): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 80 | 0.0125 | -32 | c.61+ others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ15_chr21_38251991_38312357 | 38310537 | GAAGGTAG others(25): Show |
G | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0033 | 1 | 406 | 0.0025 | -32 | c.*10 others(45): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 3181 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37655210 | TGTGTGTG others(25): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0060a0001c0001t0083a0001c0001t0188others(6): Show | a0001c0001t0060g0113a0001c0001t0083g0010a0001c0001t0188g0196others(6): Show | 9 | 198 | 0.0455 | -32 | c.947 others(51): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37655214 | TGTGTGTG others(25): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0062a0001c0001t0063others(1): Show | a0001c0001t0061g0172a0001c0001t0062g0126a0001c0001t0063g0149others(1): Show | 4 | 198 | 0.0202 | -32 | c.947 others(51): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37655216 | TGTGTGTG others(25): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(52): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0018a0001c0001t0029others(51): Show | a0001c0001t0002g0069a0001c0001t0002g0070a0001c0001t0018g0104others(52): Show | 55 | 198 | 0.2778 | -32 | c.947 others(51): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37655218 | TGTGTGTG others(25): Show |
T | intron_variant | MODIFIER | HG01167.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0030 | a0001c0001t0013g0167a0001c0001t0030g0130 | 2 | 198 | 0.0101 | -32 | c.947 others(51): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNK12_chr2_47504290_47575985 | 47550463 | ACCTCTGC others(25): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0012a0001c0001t0009g0062a0001c0001t0009g0063others(3): Show | 7 | 388 | 0.0180 | -32 | c.391 others(51): Show |
KCNK12 | ENSG00000184261.5 | transcript | ENST00000327876.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209233 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | NA18941.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0073 | a0001c0001t0012g0045a0001c0001t0073g0044 | 2 | 260 | 0.0077 | -32 | c.963 others(51): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178596259 | CTCAATAA others(25): Show |
C | intron_variant | MODIFIER | HG03209.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0082a0001c0002t0001g0217 | 2 | 232 | 0.0086 | -32 | c.-68 others(51): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178757332 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01261.hp1 HG02896.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0001a0001c0001t0002g0015a0001c0001t0002g0016others(11): Show | 14 | 232 | 0.0603 | -32 | c.-67 others(51): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759436 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02630.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0049a0001c0001t0002g0201a0001c0001t0003g0083others(1): Show | 4 | 232 | 0.0172 | -32 | c.-67 others(51): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759992 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG03486.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0080a0001c0001t0002g0228a0001c0002t0001g0175 | 3 | 232 | 0.0129 | -32 | c.-67 others(51): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178760289 | GATATATC others(25): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 232 | 0.0043 | -32 | c.-67 others(51): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178760349 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG02027.hp1 NA18971.hp2 NA19011.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0123a0001c0001t0004g0129a0001c0002t0001g0132others(1): Show | 4 | 232 | 0.0172 | -32 | c.-67 others(51): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNN2_chr5_114357070_114501496 | 114379422 | AATATTAT others(25): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001 | a0001c0001t0001g0094a0001c0001t0001g0096a0001c0006t0001g0093others(3): Show | 6 | 250 | 0.0240 | -32 | c.121 others(53): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154702700 | GATATATA others(25): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02165.hp1 HG02818.hp1 |
a0002a0008 | a0002c0002a0008c0016 | a0002c0002t0084a0008c0016t0108 | a0002c0002t0084g0126a0008c0016t0108g0207 | 2 | 238 | 0.0084 | -32 | c.*52 others(43): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 8/8 | 5244 | chr1 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 72744055 | GAAAAGAT others(25): Show |
G | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0050 | 1 | 80 | 0.0125 | -32 | c.398 others(53): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 72941666 | CTCTTTCT others(25): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG02293.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0008a0001c0001t0017others(6): Show | a0001c0001t0003g0067a0001c0001t0008g0032a0001c0001t0017g0047others(6): Show | 9 | 80 | 0.1125 | -32 | c.399 others(51): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73124954 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG02015.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0004a0001c0001t0007a0001c0001t0038others(3): Show | a0001c0001t0004g0020a0001c0001t0007g0004a0001c0001t0007g0016others(4): Show | 7 | 80 | 0.0875 | -32 | c.124 others(49): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNRG_chr13_50010444_50025922 | 50015088 | AAAAAAAA others(25): Show |
A | upstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -32 | c.-40 others(41): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 355 | chr13 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50015090 | AAAAAATA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 448 | 0.0022 | -32 | c.-40 others(41): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 353 | chr13 | TogoVar |