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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IST1_chr16_71890531_71936199 | 71895555 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01433.hp2 NA18979.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0030a0002c0002t0031 | a0001c0001t0030g0013a0002c0002t0031g0018 | 2 | 352 | 0.0057 | 0 | c.-50 others(3): Show |
IST1 | ENSG00000182149.21 | transcript | ENST00000378799.11 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
ISX_chr22_35061158_35092387 | 35066256 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(265): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0010a0004c0015others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0019others(82): Show | 268 | 410 | 0.6537 | 0 | c.-54 others(4): Show |
ISX | ENSG00000175329.13 | transcript | ENST00000404699.7 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
ISX_chr22_35061158_35092387 | 35066793 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03516.hp2 | a0003 | a0003c0003 | a0003c0003t0016 | a0003c0003t0016g0104 | 1 | 410 | 0.0024 | 0 | c.-29 others(4): Show |
ISX | ENSG00000175329.13 | transcript | ENST00000404699.7 | protein_coding | 2/5 | chr22 | TogoVar | ||||||
ISX_chr22_35061158_35092387 | 35066992 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(47): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0004a0009c0014t0015 | a0001c0001t0004g0001a0001c0001t0004g0003a0001c0001t0004g0010others(11): Show | 50 | 410 | 0.1220 | 0 | c.-96 others(3): Show |
ISX | ENSG00000175329.13 | transcript | ENST00000404699.7 | protein_coding | 2/5 | chr22 | TogoVar | ||||||
ITCH_chr20_34358273_34516773 | 34369429 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18747.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0207a0001c0001t0013g0218 | 2 | 294 | 0.0068 | 0 | c.-63 others(3): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 2/25 | chr20 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44389542 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0172 | 1 | 354 | 0.0028 | 0 | c.-69 others(3): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 1/30 | chr17 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44389551 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0172 | 1 | 354 | 0.0028 | 0 | c.-78 others(3): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 1/30 | chr17 | TogoVar | ||||||
ITGA4_chr2_181452386_181543940 | 181457600 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0057 | a0001c0002t0057g0161 | 1 | 368 | 0.0027 | 0 | c.-55 others(3): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ITGA4_chr2_181452386_181543940 | 181457622 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0216 | 1 | 368 | 0.0027 | 0 | c.-33 others(3): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ITGA7_chr12_55679568_55712904 | 55707866 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20129.hp1 | a0009 | a0009c0029 | a0009c0029t0006 | a0009c0029t0006g0178 | 1 | 330 | 0.0030 | 0 | c.-18 others(4): Show |
ITGA7 | ENSG00000135424.19 | transcript | ENST00000257879.11 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31260027 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20300.hp2 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0142 | 1 | 244 | 0.0041 | 0 | c.-38 others(3): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ITGB4_chr17_75716459_75762818 | 75721555 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0293 | 1 | 382 | 0.0026 | 0 | c.-68 others(3): Show |
ITGB4 | ENSG00000132470.14 | transcript | ENST00000200181.8 | protein_coding | 1/40 | chr17 | TogoVar | ||||||
ITGB7_chr12_53186323_53212251 | 53201086 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03139.hp2 NA19043.hp2 |
a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0217a0001c0010t0006g0219 | 2 | 400 | 0.0050 | 0 | c.-18 others(3): Show |
ITGB7 | ENSG00000139626.16 | transcript | ENST00000267082.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
ITGB7_chr12_53186323_53212251 | 53207232 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0221 | 1 | 400 | 0.0025 | 0 | c.-15 others(4): Show |
ITGB7 | ENSG00000139626.16 | transcript | ENST00000267082.10 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
ITGB8_chr7_20325900_20420754 | 20331691 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0084 | 1 | 342 | 0.0029 | 0 | c.-11 others(4): Show |
ITGB8 | ENSG00000105855.10 | transcript | ENST00000222573.5 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157180861 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0174 | 1 | 348 | 0.0029 | 0 | c.-11 others(4): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 1/17 | chr5 | TogoVar | ||||||
ITM2B_chr13_48228206_48275357 | 48233355 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0027 | 1 | 338 | 0.0030 | 0 | c.-6C others(2): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
ITPKB_chr1_226626690_226744282 | 226737538 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01257.hp1 HG01258.hp2 HG01358.hp2 others(8): Show |
a0006a0020 | a0006c0006a0020c0016 | a0006c0006t0010a0006c0006t0020a0006c0006t0027others(1): Show | a0006c0006t0010g0001a0006c0006t0010g0015a0006c0006t0010g0016others(6): Show | 11 | 350 | 0.0314 | 0 | c.-80 others(3): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ITPR3_chr6_33616322_33701562 | 33621555 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01106.hp1 HG01167.hp1 HG01192.hp2 others(19): Show |
a0001a0002a0018 | a0001c0003a0001c0005a0001c0014others(5): Show | a0001c0003t0003a0001c0005t0003a0001c0014t0003others(7): Show | a0001c0003t0003g0020a0001c0003t0003g0109a0001c0003t0003g0116others(19): Show | 22 | 342 | 0.0643 | 0 | c.-48 others(3): Show |
ITPR3 | ENSG00000096433.11 | transcript | ENST00000605930.3 | protein_coding | 1/58 | chr6 | TogoVar | ||||||
ITPRIPL1_chr2_96320317_96333353 | 96325560 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02738.hp2 HG04228.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0001a0002c0002t0004g0002 | 2 | 364 | 0.0055 | 0 | c.-99 others(3): Show |
ITPRIPL1 | ENSG00000198885.10 | transcript | ENST00000439118.3 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
ITPRIPL1_chr2_96320317_96333353 | 96325754 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(21): Show | 331 | 364 | 0.9093 | 0 | c.-86 others(3): Show |
ITPRIPL1 | ENSG00000198885.10 | transcript | ENST00000439118.3 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
ITPRIPL2_chr16_19108964_19126629 | 19114203 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0000 | 1 | 330 | 0.0030 | 0 | c.-25 others(4): Show |
ITPRIPL2 | ENSG00000205730.7 | transcript | ENST00000381440.5 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
IVNS1ABP_chr1_185291388_185322243 | 185317057 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01081.hp1 HG03669.hp1 HG04199.hp2 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0007a0008c0009t0011 | a0001c0001t0007g0045a0008c0009t0011g0106 | 3 | 380 | 0.0079 | 0 | c.-35 others(4): Show |
IVNS1ABP | ENSG00000116679.16 | transcript | ENST00000367498.8 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
IZUMO1R_chr11_94299580_94313146 | 94304744 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00735.hp2 HG00738.hp1 HG01168.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 4 | 458 | 0.0087 | 0 | c.-14 others(4): Show |
IZUMO1R | ENSG00000183560.10 | transcript | ENST00000687084.1 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
IZUMO1_chr19_48735852_48751909 | 48745867 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0051 | 1 | 410 | 0.0024 | 0 | c.-8C others(2): Show |
IZUMO1 | ENSG00000182264.9 | transcript | ENST00000332955.7 | protein_coding | 2/10 | chr19 | TogoVar | ||||||
IZUMO1_chr19_48735852_48751909 | 48746770 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp2 HG02809.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0018 | 2 | 410 | 0.0049 | 0 | c.-40 others(4): Show |
IZUMO1 | ENSG00000182264.9 | transcript | ENST00000332955.7 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
JADE2_chr5_134520670_134588227 | 134525736 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0012others(18): Show | a0001c0001t0003g0001a0001c0001t0003g0007a0001c0001t0003g0008others(68): Show | 77 | 388 | 0.1985 | 0 | c.-27 others(4): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
JAG1_chr20_10632684_10678999 | 10673867 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0236 | 1 | 412 | 0.0024 | 0 | c.-33 others(4): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 1/26 | chr20 | TogoVar | ||||||
JAGN1_chr3_9885610_9899349 | 9890653 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(251): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(29): Show | 254 | 400 | 0.6350 | 0 | c.-70 others(3): Show |
JAGN1 | ENSG00000171135.15 | transcript | ENST00000647897.1 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
JAGN1_chr3_9885610_9899349 | 9890672 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0010 | 1 | 400 | 0.0025 | 0 | c.-51 others(3): Show |
JAGN1 | ENSG00000171135.15 | transcript | ENST00000647897.1 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6200477 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01516.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0223a0001c0001t0004g0224 | 2 | 233 | 0.0086 | 0 | c.-37 others(4): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6200509 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01167.hp2 HG01192.hp2 HG03490.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004 | a0001c0001t0002a0001c0008t0002a0002c0004t0002 | a0001c0001t0002g0225a0001c0001t0002g0226a0001c0001t0002g0227others(5): Show | 8 | 233 | 0.0343 | 0 | c.-40 others(4): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147782664 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00597.hp2 HG00738.hp1 HG01255.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0013a0001c0003t0025a0001c0003t0068others(5): Show | a0001c0001t0013g0172a0001c0001t0013g0176a0001c0001t0013g0177others(10): Show | 13 | 250 | 0.0520 | 0 | c.-35 others(4): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15246250 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02976.hp2 | a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0115 | 1 | 284 | 0.0035 | 0 | c.-29 others(4): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/18 | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15246252 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18999.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0160 | 1 | 284 | 0.0035 | 0 | c.-28 others(4): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/18 | chr6 | TogoVar | ||||||
JCAD_chr10_30007803_30064586 | 30059528 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00544.hp2 HG00558.hp2 HG01070.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0012others(6): Show | a0001c0001t0008a0001c0005t0039a0001c0005t0040others(11): Show | a0001c0001t0008g0343a0001c0001t0008g0353a0001c0001t0008g0354others(26): Show | 30 | 398 | 0.0754 | 0 | c.-10 others(4): Show |
JCAD | ENSG00000165757.9 | transcript | ENST00000375377.2 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
JOSD1_chr22_38680543_38705943 | 38700285 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp2 HG02965.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021a0001c0001t0008g0092a0001c0001t0008g0093 | 5 | 376 | 0.0133 | 0 | c.-29 others(4): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 2/5 | chr22 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44187082 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01884.hp1 HG02145.hp2 HG02970.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0113a0003c0008t0034a0003c0008t0112 | a0001c0004t0113g0336a0003c0008t0034g0332a0003c0008t0034g0334others(2): Show | 5 | 338 | 0.0148 | 0 | c.-37 others(4): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44187122 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0067 | a0002c0002t0067g0136 | 1 | 338 | 0.0030 | 0 | c.-41 others(4): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87602538 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp2 | a0001 | a0001c0004 | a0001c0004t0040 | a0001c0004t0040g0272 | 1 | 380 | 0.0026 | 0 | c.-60 others(4): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
JPT2_chr16_1673279_1707086 | 1678303 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0008 | 1 | 386 | 0.0026 | 0 | c.-10 others(3): Show |
JPT2 | ENSG00000206053.13 | transcript | ENST00000248098.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
JUNB_chr19_12786486_12798315 | 12791563 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00280.hp2 HG01884.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0000a0001c0001t0004g0000 | 25 | 362 | 0.0691 | 0 | c.-20 others(4): Show |
JUNB | ENSG00000171223.6 | transcript | ENST00000302754.6 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18281593 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0000 | 1 | 408 | 0.0025 | 0 | c.-10 others(4): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
JUN_chr1_58775791_58789047 | 58783244 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00639.hp1 HG01891.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0000 | 4 | 440 | 0.0091 | 0 | c.-17 others(4): Show |
JUN | ENSG00000177606.9 | transcript | ENST00000371222.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
JUN_chr1_58775791_58789047 | 58783656 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03041.hp2 HG03098.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0000 | 3 | 440 | 0.0068 | 0 | c.-58 others(4): Show |
JUN | ENSG00000177606.9 | transcript | ENST00000371222.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
KANK4_chr1_62231165_62324434 | 62319360 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03041.hp1 | a0003 | a0003c0005 | a0003c0005t0033 | a0003c0005t0033g0321 | 1 | 322 | 0.0031 | 0 | c.-32 others(4): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210171245 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02080.hp1 HG02129.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0251a0001c0001t0012g0252a0001c0001t0012g0253 | 3 | 284 | 0.0106 | 0 | c.-12 others(4): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 1/15 | chr2 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46172204 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0220 | 1 | 321 | 0.0031 | 0 | c.-61 others(3): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/15 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46193130 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301a0003c0004t0005g0302a0003c0004t0005g0303others(19): Show | 22 | 321 | 0.0685 | 0 | c.-39 others(4): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 1/15 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46193293 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(59): Show |
a0002 | a0002c0003a0002c0010a0002c0013 | a0002c0003t0003a0002c0003t0012a0002c0003t0013others(6): Show | a0002c0003t0003g0238a0002c0003t0003g0239a0002c0003t0003g0240others(59): Show | 62 | 321 | 0.1932 | 0 | c.-56 others(4): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 1/15 | chr17 | TogoVar |