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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL17B_chr5_149369267_149384292 | 149370037 | T | TTTTTTTT others(34): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 282 | 0.0035 | 41 | c.*43 others(52): Show |
IL17B | ENSG00000127743.6 | transcript | ENST00000261796.4 | protein_coding | 4229 | chr5 | TogoVar | |||||||
IL17RA_chr22_17080000_17120693 | 17103951 | T | TGTGGTGT others(34): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(191): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0013others(18): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(70): Show | a0001c0001t0002g0015 a0001c0001t0002g0140 a0001c0001t0002g0142 others(179): Show |
194 | 305 | 0.6361 | 41 | c.846 others(56): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IL17RA_chr22_17080000_17120693 | 17104286 | T | TGGAGTGG others(34): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02965.hp1 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0008a0002c0011t0028a0002c0011t0054 | a0001c0001t0008g0307 a0002c0011t0028g0212 a0002c0011t0028g0380 others(1): Show |
4 | 386 | 0.0104 | 41 | c.847 others(56): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29333417 | A | ACCTCCCT others(34): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp1 others(34): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0067 others(34): Show |
37 | 113 | 0.3274 | 41 | c.362 others(60): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 104855681 | G | GTGTTTTT others(34): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 75 | 0.0133 | 41 | c.82+ others(60): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55897000 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0004 | a0003c0004t0061 | a0003c0004t0061g0302 | 1 | 192 | 0.0052 | 41 | c.852 others(56): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55897000 | A | AAAAATAT others(34): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0262 | 1 | 192 | 0.0052 | 41 | c.852 others(56): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 15 | 0.0667 | 41 | c.852 others(56): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0004 | a0003c0004t0059 | a0003c0004t0059g0304 | 1 | 15 | 0.0667 | 41 | c.852 others(56): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03139.hp2 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0095 | a0002c0002t0012g0095 a0002c0002t0012g0098 a0002c0002t0095g0074 |
3 | 17 | 0.1765 | 41 | c.852 others(56): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1382257 | T | TGGGATGA others(34): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(46): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0081 others(46): Show |
49 | 99 | 0.4949 | 41 | c.106 others(58): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IMMP2L_chr7_110657644_111567492 | 110688940 | A | AAACATTT others(34): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03453.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0002g0053 |
3 | 84 | 0.0357 | 41 | c.409 others(60): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
IMPA1_chr8_81651914_81691325 | 81684266 | G | GTATACCA others(34): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 352 | 0.0028 | 41 | c.-25 others(58): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
IMPA1_chr8_81651914_81691325 | 81684560 | A | AATGTGTA others(34): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0155 |
2 | 223 | 0.0090 | 41 | c.-25 others(58): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
IMPA1_chr8_81651914_81691325 | 81684842 | G | GTAGTATA others(34): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0156 a0001c0001t0007g0099 |
2 | 174 | 0.0115 | 41 | c.-25 others(58): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GAGGGGCA others(34): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0078 | 1 | 13 | 0.0769 | 41 | c.978 others(58): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | chr10 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18977.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0331 a0002c0002t0003g0332 |
2 | 73 | 0.0274 | 41 | c.281 others(58): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18962.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0326 a0002c0002t0003g0327 |
2 | 73 | 0.0274 | 41 | c.281 others(58): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0314 | 1 | 72 | 0.0139 | 41 | c.281 others(58): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0308 | 1 | 72 | 0.0139 | 41 | c.281 others(58): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0030 | 1 | 72 | 0.0139 | 41 | c.281 others(58): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5E_chr9_136423619_136444845 | 136431390 | C | CCCCCCCA others(34): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 360 | 0.0056 | 41 | c.155 others(58): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
INPP5E_chr9_136423619_136444845 | 136431409 | C | CTCCTCAT others(34): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01346.hp2 NA18990.hp2 |
a0001a0003 | a0001c0001a0003c0017 | a0001c0001t0001a0003c0017t0001 | a0001c0001t0001g0001 a0003c0017t0001g0052 |
3 | 362 | 0.0083 | 41 | c.155 others(58): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161648 | A | ACACCCCT others(34): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG03453.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 3 | 282 | 0.0106 | 41 | c.-49 others(50): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 440 | chr11 | TogoVar | |||||||
INTS11_chr1_1306600_1329660 | 1324144 | C | CTGGGAGG others(34): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0202 | 1 | 352 | 0.0028 | 41 | c.28+ others(54): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
INTS15_chr7_6585021_6613726 | 6613356 | T | TATATATA others(34): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 288 | 0.0035 | 41 | c.*51 others(52): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 4631 | chr7 | TogoVar | |||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0085 |
2 | 26 | 0.0769 | 41 | c.85- others(56): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 25 | 0.0400 | 41 | c.85- others(56): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 25 | 0.0400 | 41 | c.85- others(56): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18953.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026 a0001c0001t0001g0105 a0001c0001t0002g0261 |
3 | 27 | 0.1111 | 41 | c.85- others(56): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAT others(34): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0116 a0001c0001t0013g0117 |
2 | 26 | 0.0769 | 41 | c.85- others(56): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAATAT others(34): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 25 | 0.0400 | 41 | c.85- others(56): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(34): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0013 | 1 | 261 | 0.0038 | 41 | c.-39 others(52): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(34): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0021 | 1 | 261 | 0.0038 | 41 | c.-39 others(52): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
ISG15_chr1_1008497_1019540 | 1009374 | C | CCGAGAAT others(34): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 380 | 0.0026 | 41 | c.-42 others(52): Show |
ISG15 | ENSG00000187608.10 | transcript | ENST00000649529.1 | protein_coding | 4122 | chr1 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68310008 | C | CTGGAAGG others(34): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0007 | a0007c0007 | a0007c0007t0032 | a0007c0007t0032g0111 | 1 | 240 | 0.0042 | 41 | c.317 others(58): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 26/29 | chr15 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52911985 | A | ATATACTA others(34): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp1 others(42): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0044 a0001c0001t0001g0232 a0001c0001t0004g0076 others(42): Show |
45 | 95 | 0.4737 | 41 | c.185 others(60): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566764 | A | AGAGAGAA others(34): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02523.hp1 HG02523.hp2 others(1): Show |
a0003 | a0003c0002a0003c0005 | a0003c0002t0001a0003c0005t0001 | a0003c0002t0001g0273 a0003c0005t0001g0146 a0003c0005t0001g0151 others(1): Show |
4 | 307 | 0.0130 | 41 | c.215 others(58): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566765 | A | ACAGAGAG others(34): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0049 | 1 | 284 | 0.0035 | 41 | c.215 others(58): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6171098 | T | TACCACCA others(34): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0220 | 1 | 232 | 0.0043 | 41 | c.-14 others(62): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147742155 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 109 | 0.0092 | 41 | c.-14 others(62): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147742155 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0179 | 1 | 109 | 0.0092 | 41 | c.-14 others(62): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147742155 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG00621.hp2 HG03688.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0001 | a0001c0001t0002g0152 a0001c0008t0001g0157 |
2 | 110 | 0.0182 | 41 | c.-14 others(62): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147742155 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0146 | 1 | 109 | 0.0092 | 41 | c.-14 others(62): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA19062.hp1 NA19062.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0012g0247 |
3 | 146 | 0.0205 | 41 | c.67+ others(58): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514800 | T | TATATCTA others(34): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0049 | 1 | 252 | 0.0040 | 41 | c.-84 others(60): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(34): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 NA18964.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0246 a0002c0002t0001g0259 |
2 | 72 | 0.0278 | 41 | c.*37 others(52): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(34): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0249 |
2 | 72 | 0.0278 | 41 | c.*37 others(52): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14883341 | A | AGAGAGAG others(34): Show |
intron_variant | MODIFIER | HG02273.hp1 NA18942.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 a0002c0002t0001g0106 |
2 | 133 | 0.0150 | 41 | c.227 others(60): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883355 | A | AGGGAGGG others(34): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 40 | 0.0250 | 41 | c.227 others(60): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar |