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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01981.hp2 HG02257.hp2 others(14): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(2): Show | a0001c0001t0002g0068a0001c0001t0002g0070a0001c0001t0002g0105others(14): Show | 17 | 374 | 0.0455 | 29 | c.230 others(48): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT6B_chr10_74821600_75037624 | 74981343 | C | CTTCCTTC others(22): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 236 | 0.0042 | 29 | c.223 others(46): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KATNAL1_chr13_30197630_30312551 | 30306294 | G | GGTATTTT others(22): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0278 | 1 | 386 | 0.0026 | 29 | c.-15 others(46): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02886.hp1 HG03225.hp2 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0014 | a0001c0001t0009a0001c0001t0010a0002c0002t0001others(1): Show | a0001c0001t0009g0033a0001c0001t0010g0040a0002c0002t0001g0073others(2): Show | 5 | 146 | 0.0343 | 29 | c.226 others(48): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883340 | G | GAGAGAGA others(22): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 146 | 0.0069 | 29 | c.227 others(48): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883341 | A | AGAGAGAG others(22): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0131 | 1 | 146 | 0.0069 | 29 | c.227 others(48): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883342 | G | GAGAGAGA others(22): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 146 | 0.0069 | 29 | c.227 others(48): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883347 | A | AGAGGGAG others(22): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0005 | a0005c0016 | a0005c0016t0002 | a0005c0016t0002g0022 | 1 | 146 | 0.0069 | 29 | c.227 others(48): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883355 | A | AGAGGGAG others(22): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 146 | 0.0069 | 29 | c.227 others(48): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1969112 | C | CAGATTTA others(22): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0279 | 1 | 389 | 0.0026 | 29 | c.-57 others(40): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 4564 | chr8 | TogoVar | ||||||
KBTBD2_chr7_32863172_32896760 | 32896707 | T | TTAACACA others(22): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 434 | 0.0023 | 29 | c.-55 others(40): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 4948 | chr7 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 84974692 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0195 | 1 | 274 | 0.0037 | 29 | c.16+ others(44): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49425670 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02647.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(8): Show | a0001c0001t0001g0030a0001c0001t0010g0063a0001c0001t0019g0014others(8): Show | 11 | 278 | 0.0396 | 29 | c.568 others(48): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75138979 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 316 | 0.0032 | 29 | c.687 others(48): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75151915 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01243.hp2 HG02071.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0071others(46): Show | 49 | 316 | 0.1551 | 29 | c.687 others(48): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNE1_chr21_34441690_34517210 | 34445946 | T | TGGTGCCC others(22): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0018 | 1 | 18 | 0.0556 | 29 | c.*32 others(40): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 743 | chr21 | TogoVar | ||||||
KCNE1_chr21_34441690_34517210 | 34446121 | G | GGTGCCCA others(22): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01106.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(8): Show | 11 | 18 | 0.6111 | 29 | c.*31 others(40): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 568 | chr21 | TogoVar | ||||||
KCNG1_chr20_50998656_51028107 | 51002034 | A | AGAGAAGA others(22): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 NA20752.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039a0001c0002t0001g0097 | 2 | 424 | 0.0047 | 29 | c.*20 others(40): Show |
KCNG1 | ENSG00000026559.14 | transcript | ENST00000371571.5 | protein_coding | 1621 | chr20 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79865487 | G | GCTGAGAG others(22): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0064a0002c0004t0001g0065 | 2 | 312 | 0.0064 | 29 | c.624 others(46): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79882749 | G | GCTGCCGT others(22): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 312 | 0.0032 | 29 | c.625 others(48): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 342 | 0.0029 | 29 | c.666 others(46): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210806824 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0114 | 1 | 164 | 0.0061 | 29 | c.146 others(48): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62853458 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG02683.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0022a0001c0001t0034others(2): Show | a0001c0001t0002g0058a0001c0001t0022g0024a0001c0001t0034g0204others(2): Show | 5 | 224 | 0.0223 | 29 | c.137 others(48): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62853460 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02723.hp1 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0013 | a0001c0001t0001g0038a0002c0002t0003g0003a0002c0002t0013g0002others(2): Show | 5 | 224 | 0.0223 | 29 | c.137 others(48): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162429383 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19074.hp2 NA19084.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028a0001c0003t0001g0093 | 2 | 100 | 0.0200 | 29 | c.195 others(48): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 8/15 | chr2 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162741286 | T | TACATATT others(22): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 100 | 0.0100 | 29 | c.307 others(48): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20988000 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0004 | 1 | 80 | 0.0125 | 29 | c.62- others(48): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21125188 | C | CTATTTTA others(22): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 80 | 0.0125 | 29 | c.62- others(48): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21320964 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0062 | 1 | 80 | 0.0125 | 29 | c.62- others(48): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21785610 | T | TAAATAAA others(22): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 80 | 0.0125 | 29 | c.61+ others(48): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ10_chr1_160032467_160075160 | 160049683 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0213 | 1 | 408 | 0.0025 | 29 | c.1-7 others(42): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KCNJ14_chr19_48450574_48471980 | 48461550 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 392 | 0.0026 | 29 | c.-55 others(44): Show |
KCNJ14 | ENSG00000182324.7 | transcript | ENST00000342291.3 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
KCNJ4_chr22_38421327_38460199 | 38455503 | T | TCCCGCCC others(22): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 380 | 0.0026 | 29 | c.-56 others(38): Show |
KCNJ4 | ENSG00000168135.4 | transcript | ENST00000303592.3 | protein_coding | 305 | chr22 | TogoVar | ||||||
KCNJ5_chr11_128886356_128926163 | 128898817 | C | CGTCCCCA others(22): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0217 | 1 | 460 | 0.0022 | 29 | c.-11 others(46): Show |
KCNJ5 | ENSG00000120457.12 | transcript | ENST00000529694.6 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90143171 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01069.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0054a0001c0001t0001g0061a0001c0001t0001g0092others(29): Show | 32 | 320 | 0.1000 | 29 | c.335 others(48): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KCNK18_chr10_117192489_117215299 | 117192734 | C | CTTTTTTT others(22): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0003 | a0003c0003 | a0003c0003t0000 | a0003c0003t0000g0003 | 1 | 430 | 0.0023 | 29 | c.-47 others(40): Show |
KCNK18 | ENSG00000186795.1 | transcript | ENST00000334549.1 | protein_coding | 4754 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77572604 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 106 | 0.0094 | 29 | c.378 others(48): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG02071.hp1 HG02129.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0087a0002c0002t0009a0003c0003t0003others(1): Show | a0001c0001t0087g0200a0002c0002t0009g0189a0003c0003t0003g0007others(2): Show | 5 | 432 | 0.0116 | 29 | c.-12 others(40): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG02273.hp2 NA18960.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0003a0003c0003t0023 | a0001c0001t0002g0047a0003c0003t0003g0009a0003c0003t0023g0029 | 4 | 432 | 0.0093 | 29 | c.-12 others(40): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAATATAT others(22): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0001a0001c0001t0013g0017 | 2 | 432 | 0.0046 | 29 | c.-12 others(40): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758045 | G | GAGGATAT others(22): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 232 | 0.0043 | 29 | c.-67 others(48): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759046 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0103a0001c0001t0004g0104 | 2 | 232 | 0.0086 | 29 | c.-67 others(48): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01975.hp1 HG02015.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(5): Show | a0001c0001t0003g0155a0001c0001t0006g0121a0001c0001t0011g0002others(5): Show | 8 | 176 | 0.0455 | 29 | c.386 others(48): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73024381 | T | TGATAGAT others(22): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01099.hp2 HG02015.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0006a0001c0001t0003g0015a0001c0001t0003g0069others(8): Show | 11 | 80 | 0.1375 | 29 | c.490 others(48): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATAGA others(22): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0149 | 1 | 272 | 0.0037 | 29 | c.254 others(48): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135777685 | C | CCTCCTGC others(22): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0147 | 1 | 272 | 0.0037 | 29 | c.252 others(46): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 136 | 0.0074 | 29 | c.269 others(48): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03041.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0084 | 2 | 136 | 0.0147 | 29 | c.269 others(48): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 136 | 0.0074 | 29 | c.269 others(48): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18984.hp1 NA19009.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0027a0001c0001t0001g0059a0001c0005t0001g0014 | 3 | 136 | 0.0221 | 29 | c.269 others(48): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar |