view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNIP3_chr2_95292347_95391077 | 95297162 | G | GGAGAGAG others(39): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 295 | 0.0034 | 46 | c.-27 others(55): Show |
KCNIP3 | ENSG00000115041.14 | transcript | ENST00000295225.10 | protein_coding | 184 | chr2 | TogoVar | |||||||
KCNIP3_chr2_95292347_95391077 | 95297211 | G | GAGAGAGA others(39): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(195): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 others(186): Show |
198 | 295 | 0.6712 | 46 | c.-22 others(55): Show |
KCNIP3 | ENSG00000115041.14 | transcript | ENST00000295225.10 | protein_coding | 135 | chr2 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049675 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0107 | 1 | 132 | 0.0076 | 46 | c.1-7 others(59): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049677 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA18960.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0030 a0001c0001t0019g0012 |
2 | 383 | 0.0052 | 46 | c.1-7 others(59): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ15_chr21_38251991_38312357 | 38256360 | T | TTATATAT others(39): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0203 | 1 | 264 | 0.0038 | 46 | c.-94 others(55): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 630 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37616590 | C | CATATATA others(39): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0003 | a0001c0003t0102 | a0001c0003t0102g0064 | 1 | 21 | 0.0476 | 46 | c.*85 others(57): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8568 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37616590 | C | CATATATA others(39): Show |
3_prime_UTR_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0104 | 1 | 21 | 0.0476 | 46 | c.*85 others(57): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8568 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37616592 | T | TATATATA others(39): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0109 | 1 | 193 | 0.0052 | 46 | c.*85 others(57): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8566 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37616608 | T | TATATATA others(39): Show |
3_prime_UTR_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0090 | 1 | 194 | 0.0052 | 46 | c.*85 others(57): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8550 | chr21 | TogoVar | ||||||
KCNK12_chr2_47504290_47575985 | 47507023 | T | TTCTCTCT others(39): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0073 | a0001c0001t0023g0054 a0001c0001t0073g0197 |
2 | 379 | 0.0053 | 46 | c.*13 others(59): Show |
KCNK12 | ENSG00000184261.5 | transcript | ENST00000327876.5 | protein_coding | 2266 | chr2 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215209476 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0248 | 1 | 60 | 0.0167 | 46 | c.963 others(65): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209972 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0097 | 1 | 39 | 0.0256 | 46 | c.963 others(65): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK4_chr11_64286302_64305031 | 64304830 | C | CGTGACCT others(39): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 NA18979.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0003t0001g0051 |
3 | 378 | 0.0079 | 46 | c.*51 others(57): Show |
KCNK4 | ENSG00000182450.14 | transcript | ENST00000422670.7 | protein_coding | 4800 | chr11 | TogoVar | |||||||
KCNK6_chr19_38314845_38337076 | 38328878 | G | GAGAGAAA others(39): Show |
3_prime_UTR_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0069 | a0002c0002t0069g0002 | 1 | 314 | 0.0032 | 46 | c.*14 others(57): Show |
KCNK6 | ENSG00000099337.5 | transcript | ENST00000263372.5 | protein_coding | 3/3 | 1479 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178757840 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01358.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0101 a0001c0001t0001g0161 a0001c0001t0002g0080 others(21): Show |
24 | 176 | 0.1364 | 46 | c.-67 others(65): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758491 | T | TATATCTA others(39): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 222 | 0.0045 | 46 | c.-67 others(65): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758567 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 228 | 0.0044 | 46 | c.-67 others(65): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758567 | T | TATATCTC others(39): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01255.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 a0001c0001t0002g0118 a0001c0001t0002g0206 others(1): Show |
4 | 231 | 0.0173 | 46 | c.-67 others(65): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758743 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 232 | 0.0043 | 46 | c.-67 others(65): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758937 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0208 | 1 | 220 | 0.0045 | 46 | c.-67 others(65): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178817218 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 152 | 0.0066 | 46 | c.57- others(61): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178817218 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0108 a0001c0001t0001g0161 a0001c0001t0002g0229 others(3): Show |
6 | 157 | 0.0382 | 46 | c.57- others(61): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373640 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01515.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0037 a0001c0001t0001g0058 a0001c0001t0001g0059 others(10): Show |
13 | 89 | 0.1461 | 46 | c.121 others(65): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373640 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 77 | 0.0130 | 46 | c.121 others(65): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373640 | T | TTTTATAT others(39): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0200 | 1 | 77 | 0.0130 | 46 | c.121 others(65): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373645 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 247 | 0.0040 | 46 | c.121 others(65): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373657 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 233 | 0.0043 | 46 | c.121 others(65): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132303565 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0019 a0001c0001t0011g0025 |
2 | 35 | 0.0571 | 46 | c.387 others(67): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(39): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18952.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0037a0002c0002t0088 | a0001c0001t0037g0028 a0002c0002t0088g0133 |
2 | 3 | 0.6667 | 46 | c.386 others(65): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72852640 | A | AATAAATA others(39): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 | 1 | 21 | 0.0476 | 46 | c.399 others(67): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 50 | 0.0200 | 46 | c.254 others(65): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135758299 | C | CGAGACGC others(39): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0027 | a0001c0027t0009 | a0001c0027t0009g0268 | 1 | 270 | 0.0037 | 46 | c.760 others(59): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196342426 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 133 | 0.0075 | 46 | c.140 others(63): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | TogoVar | |||||||
KCNV1_chr8_109958636_109980771 | 109974275 | C | CCCGAGCG others(39): Show |
frameshift_variant others(1): Show |
HIGH | NA18987.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0035 | 1 | 370 | 0.0027 | 46 | c.68_ others(52): Show |
p.Asp others(4): Show |
KCNV1 | ENSG00000164794.9 | transcript | ENST00000524391.6 | protein_coding | 2/4 | 1070/6912 | 113/1503 | 38/500 | chr8 | TogoVar | |||
KDM1B_chr6_18150422_18228854 | 18208603 | G | GTGTGTAT others(39): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0077 | 1 | 252 | 0.0040 | 46 | c.186 others(63): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019686 | T | TTATAAAA others(39): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00639.hp2 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0027others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(18): Show | a0001c0001t0001g0151 a0001c0001t0002g0087 a0001c0001t0002g0145 others(27): Show |
30 | 124 | 0.2419 | 46 | c.225 others(65): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019767 | A | AATATTTT others(39): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0158 a0001c0001t0002g0142 a0001c0001t0002g0161 others(2): Show |
5 | 234 | 0.0214 | 46 | c.225 others(65): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019767 | A | AATATTTT others(39): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 230 | 0.0043 | 46 | c.225 others(65): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61945111 | A | ATATATGT others(39): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0059 | 1 | 190 | 0.0053 | 46 | c.483 others(65): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429406 | G | GGAGGAGG others(39): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 NA19059.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0048 a0001c0001t0006g0049 |
2 | 383 | 0.0052 | 46 | c.-47 others(57): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4596 | chr19 | TogoVar | |||||||
KIAA0040_chr1_175151986_175197776 | 175153568 | C | CTCCATGG others(39): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0050 | 1 | 392 | 0.0026 | 46 | c.*71 others(57): Show |
KIAA0040 | ENSG00000235750.10 | transcript | ENST00000423313.6 | protein_coding | 3417 | chr1 | TogoVar | |||||||
KIAA1549L_chr11_33371108_33679102 | 33435816 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0014 | a0014c0045 | a0014c0045t0001 | a0014c0045t0001g0081 | 1 | 60 | 0.0167 | 46 | c.238 others(65): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1614_chr1_180907897_180956614 | 180941392 | G | GCCCCCCC others(39): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0031 | a0031c0042 | a0031c0042t0084 | a0031c0042t0084g0051 | 1 | 428 | 0.0023 | 46 | c.315 others(63): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF14_chr1_200546500_200625751 | 200548793 | C | CACACACA others(39): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0239 | 1 | 323 | 0.0031 | 46 | c.*45 others(57): Show |
KIF14 | ENSG00000118193.12 | transcript | ENST00000367350.5 | protein_coding | 2706 | chr1 | TogoVar | |||||||
KIF17_chr1_20659014_20723007 | 20712606 | A | ATATTATA others(39): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG02074.hp1 others(4): Show |
a0001a0002a0016 | a0001c0005a0002c0003a0016c0106 | a0001c0005t0001a0001c0005t0002a0002c0003t0001others(1): Show | a0001c0005t0001g0130 a0001c0005t0002g0175 a0002c0003t0001g0131 others(4): Show |
7 | 293 | 0.0239 | 46 | c.480 others(61): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240779247 | C | CAGTTCCA others(39): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 254 | 0.0039 | 46 | c.882 others(63): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240780830 | C | CCACACAC others(39): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0005a0001c0052 | a0001c0005t0004a0001c0005t0007a0001c0052t0007 | a0001c0005t0004g0040 a0001c0005t0007g0008 a0001c0005t0007g0030 others(2): Show |
5 | 286 | 0.0175 | 46 | c.882 others(63): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240781050 | C | CAGCTCCA others(39): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0019 | 1 | 325 | 0.0031 | 46 | c.882 others(63): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KIF1B_chr1_10205570_10386603 | 10282795 | A | ACGTTAAT others(39): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0253 | 1 | 298 | 0.0034 | 46 | c.143 others(63): Show |
KIF1B | ENSG00000054523.20 | transcript | ENST00000676179.1 | protein_coding | 15/48 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF21A_chr12_39288228_39448120 | 39355707 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 48 | 0.0208 | 46 | c.146 others(65): Show |
KIF21A | ENSG00000139116.19 | transcript | ENST00000361418.10 | protein_coding | 10/37 | chr12 | TogoVar |