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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FNDC7_chr1_108707908_108747749 | 108728063 | C | T | missense_variant others(1): Show |
MODERATE | HG02922.hp2 | a0021 | a0021c0049 | a0021c0049t0001 | a0021c0049t0001g0282 | 1 | 376 | 0.0027 | 0 | c.136 others(4): Show |
p.Thr others(6): Show |
FNDC7 | ENSG00000143107.10 | transcript | ENST00000370017.9 | protein_coding | 7/13 | 1393/3090 | 1367/2202 | 456/733 | chr1 | TogoVar | ||
FNIP2_chr4_158764026_158913050 | 158861342 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02818.hp2 HG03516.hp2 |
a0001a0009 | a0001c0009a0009c0016 | a0001c0009t0002a0009c0016t0002 | a0001c0009t0002g0234a0001c0009t0002g0235a0009c0016t0002g0236 | 3 | 254 | 0.0118 | 0 | c.114 others(4): Show |
p.Arg others(6): Show |
FNIP2 | ENSG00000052795.13 | transcript | ENST00000264433.11 | protein_coding | 11/17 | 1336/7038 | 1149/3345 | 383/1114 | chr4 | TogoVar | ||
FNTA_chr8_43051323_43090785 | 43077209 | C | T | splice_region_variant others(1): Show |
LOW | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 294 | 0.0034 | 0 | c.634 others(5): Show |
FNTA | ENSG00000168522.13 | transcript | ENST00000302279.8 | protein_coding | 5/8 | chr8 | TogoVar | ||||||
FNTA_chr8_43051323_43090785 | 43083186 | A | G | splice_region_variant others(1): Show |
LOW | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 294 | 0.0034 | 0 | c.845 others(5): Show |
FNTA | ENSG00000168522.13 | transcript | ENST00000302279.8 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
FNTB_chr14_64981895_65067650 | 65012395 | C | T | splice_region_variant others(1): Show |
LOW | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 360 | 0.0028 | 0 | c.282 others(5): Show |
FNTB | ENSG00000257365.8 | transcript | ENST00000246166.3 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
FNTB_chr14_64981895_65067650 | 65012397 | C | A | splice_region_variant others(1): Show |
LOW | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 360 | 0.0028 | 0 | c.282 others(5): Show |
FNTB | ENSG00000257365.8 | transcript | ENST00000246166.3 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
FOCAD_chr9_20679259_21000950 | 20764871 | T | C | missense_variant others(1): Show |
MODERATE | HG00140.hp2 HG00280.hp2 HG00621.hp1 others(81): Show |
a0003a0005a0006others(7): Show | a0003c0003a0005c0006a0005c0012others(9): Show | a0003c0003t0001a0003c0003t0006a0005c0006t0001others(10): Show | a0003c0003t0001g0014a0003c0003t0001g0024a0003c0003t0001g0055others(81): Show | 84 | 320 | 0.2625 | 0 | c.497 others(3): Show |
p.Leu others(6): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 7/44 | 564/5794 | 497/5406 | 166/1801 | chr9 | TogoVar | ||
FOCAD_chr9_20679259_21000950 | 20770032 | G | A | missense_variant others(1): Show |
MODERATE | HG01891.hp1 HG02257.hp2 HG02572.hp2 others(4): Show |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0143a0006c0005t0001g0175a0006c0005t0001g0193others(4): Show | 7 | 320 | 0.0219 | 0 | c.700 others(3): Show |
p.Val others(6): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 8/44 | 767/5794 | 700/5406 | 234/1801 | chr9 | TogoVar | ||
FOCAD_chr9_20679259_21000950 | 20781719 | A | G | splice_region_variant others(1): Show |
LOW | HG00621.hp1 NA18977.hp1 NA18981.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0063a0003c0003t0001g0073a0003c0003t0001g0074others(1): Show | 4 | 320 | 0.0125 | 0 | c.995 others(5): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 9/43 | chr9 | TogoVar | ||||||
FOCAD_chr9_20679259_21000950 | 20781724 | T | C | splice_region_variant others(1): Show |
LOW | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 320 | 0.0031 | 0 | c.995 others(5): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 9/43 | chr9 | TogoVar | ||||||
FOCAD_chr9_20679259_21000950 | 20907143 | C | T | splice_region_variant others(1): Show |
LOW | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 320 | 0.0031 | 0 | c.262 others(6): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 21/43 | chr9 | TogoVar | ||||||
FOCAD_chr9_20679259_21000950 | 20907146 | A | G | splice_region_variant others(1): Show |
LOW | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0245 | 1 | 320 | 0.0031 | 0 | c.262 others(6): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 21/43 | chr9 | TogoVar | ||||||
FOCAD_chr9_20679259_21000950 | 20978336 | C | G | splice_region_variant others(1): Show |
LOW | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 320 | 0.0031 | 0 | c.426 others(6): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 36/43 | chr9 | TogoVar | ||||||
FOCAD_chr9_20679259_21000950 | 20981684 | C | T | missense_variant others(1): Show |
MODERATE | HG02723.hp2 | a0023 | a0023c0032 | a0023c0032t0001 | a0023c0032t0001g0317 | 1 | 320 | 0.0031 | 0 | c.463 others(4): Show |
p.Arg others(7): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 38/44 | 4703/5794 | 4636/5406 | 1546/1801 | chr9 | TogoVar | ||
FOCAD_chr9_20679259_21000950 | 20981685 | G | A | missense_variant others(1): Show |
MODERATE | NA18906.hp2 | a0020 | a0020c0035 | a0020c0035t0001 | a0020c0035t0001g0113 | 1 | 320 | 0.0031 | 0 | c.463 others(4): Show |
p.Arg others(7): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 38/44 | 4704/5794 | 4637/5406 | 1546/1801 | chr9 | TogoVar | ||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(3): Show |
splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0245a0002c0002t0001g0301 | 2 | 320 | 0.0063 | 10 | c.472 others(24): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(7): Show |
splice_region_variant others(1): Show |
LOW | HG02559.hp1 HG02717.hp1 NA18906.hp1 |
a0005 | a0005c0012a0005c0025 | a0005c0012t0001a0005c0025t0001 | a0005c0012t0001g0004a0005c0012t0001g0107a0005c0025t0001g0119 | 3 | 320 | 0.0094 | 14 | c.472 others(28): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(9): Show |
splice_region_variant others(1): Show |
LOW | NA19043.hp2 | a0036 | a0036c0047 | a0036c0047t0001 | a0036c0047t0001g0156 | 1 | 320 | 0.0031 | 16 | c.472 others(30): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(10): Show |
splice_region_variant others(1): Show |
LOW | HG03139.hp1 HG03195.hp1 HG03225.hp1 |
a0002a0005 | a0002c0049a0005c0006 | a0002c0049t0001a0005c0006t0001 | a0002c0049t0001g0044a0005c0006t0001g0053a0005c0006t0001g0308 | 3 | 320 | 0.0094 | 17 | c.472 others(31): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(11): Show |
splice_region_variant others(1): Show |
LOW | HG02486.hp2 HG02809.hp2 HG03579.hp1 |
a0005a0026a0031 | a0005c0006a0026c0029a0031c0026 | a0005c0006t0001a0026c0029t0001a0031c0026t0001 | a0005c0006t0001g0054a0026c0029t0001g0094a0031c0026t0001g0307 | 3 | 320 | 0.0094 | 18 | c.472 others(31): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(12): Show |
splice_region_variant others(1): Show |
LOW | HG02559.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0231 | 2 | 320 | 0.0063 | 19 | c.472 others(32): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(13): Show |
splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG00558.hp1 HG01109.hp2 others(22): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0032a0001c0001t0001g0071a0001c0001t0001g0075others(22): Show | 25 | 320 | 0.0781 | 20 | c.472 others(33): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(14): Show |
splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(43): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0010a0001c0015others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0010t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0011others(43): Show | 46 | 320 | 0.1438 | 21 | c.472 others(34): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(15): Show |
splice_region_variant others(1): Show |
LOW | HG00609.hp2 HG00621.hp2 HG01169.hp2 others(31): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0009a0001c0010others(11): Show | a0001c0001t0001a0001c0009t0001a0001c0010t0001others(11): Show | a0001c0001t0001g0050a0001c0001t0001g0080a0001c0001t0001g0101others(31): Show | 34 | 320 | 0.1063 | 22 | c.472 others(35): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(16): Show |
splice_region_variant others(1): Show |
LOW | HG01070.hp2 HG01071.hp2 HG01074.hp1 others(19): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0018others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0001g0185a0001c0001t0001g0197a0001c0001t0001g0235others(19): Show | 22 | 320 | 0.0688 | 23 | c.472 others(36): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(17): Show |
splice_region_variant others(1): Show |
LOW | HG00609.hp1 HG00642.hp1 HG01099.hp1 others(15): Show |
a0002a0009a0011others(1): Show | a0002c0002a0002c0041a0009c0011others(2): Show | a0002c0002t0001a0002c0041t0001a0009c0011t0001others(2): Show | a0002c0002t0001g0023a0002c0002t0001g0033a0002c0002t0001g0034others(15): Show | 18 | 320 | 0.0563 | 24 | c.472 others(37): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(18): Show |
splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG01934.hp2 HG01952.hp2 others(6): Show |
a0002a0005a0007others(4): Show | a0002c0002a0005c0006a0007c0007others(4): Show | a0002c0002t0001a0005c0006t0001a0007c0007t0002others(4): Show | a0002c0002t0001g0029a0002c0002t0001g0031a0005c0006t0001g0121others(6): Show | 9 | 320 | 0.0281 | 25 | c.472 others(38): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(19): Show |
splice_region_variant others(1): Show |
LOW | HG02809.hp1 HG03669.hp2 HG04115.hp2 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0016a0002c0002a0007c0007others(1): Show | a0001c0016t0001a0002c0002t0001a0007c0007t0002others(1): Show | a0001c0016t0001g0184a0002c0002t0001g0252a0002c0002t0001g0253others(4): Show | 7 | 320 | 0.0219 | 26 | c.472 others(39): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(20): Show |
splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG02071.hp1 HG04184.hp1 others(5): Show |
a0001a0002a0029 | a0001c0001a0002c0002a0029c0043 | a0001c0001t0001a0002c0002t0001a0029c0043t0001 | a0001c0001t0001g0083a0002c0002t0001g0065a0002c0002t0001g0204others(5): Show | 8 | 320 | 0.0250 | 27 | c.472 others(40): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(21): Show |
splice_region_variant others(1): Show |
LOW | HG00438.hp2 NA18961.hp1 NA18967.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045a0002c0002t0001g0218a0002c0002t0001g0227others(4): Show | 7 | 320 | 0.0219 | 28 | c.472 others(41): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(22): Show |
splice_region_variant others(1): Show |
LOW | HG01516.hp1 HG02027.hp1 HG02602.hp2 others(3): Show |
a0001a0002a0013 | a0001c0009a0002c0002a0013c0014 | a0001c0009t0001a0002c0002t0001a0013c0014t0001 | a0001c0009t0001g0208a0002c0002t0001g0001a0002c0002t0001g0068others(3): Show | 6 | 320 | 0.0188 | 29 | c.472 others(42): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(23): Show |
splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02698.hp2 HG02818.hp2 others(4): Show |
a0002 | a0002c0002a0002c0020 | a0002c0002t0001a0002c0002t0005a0002c0020t0001 | a0002c0002t0001g0051a0002c0002t0001g0058a0002c0002t0001g0242others(4): Show | 7 | 320 | 0.0219 | 30 | c.472 others(43): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(24): Show |
splice_region_variant others(1): Show |
LOW | HG02280.hp1 HG03540.hp1 NA18954.hp2 others(6): Show |
a0002a0007a0012 | a0002c0002a0007c0007a0012c0019 | a0002c0002t0001a0007c0007t0002a0012c0019t0002 | a0002c0002t0001g0019a0002c0002t0001g0090a0002c0002t0001g0200others(6): Show | 9 | 320 | 0.0281 | 31 | c.472 others(44): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(25): Show |
splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG02074.hp2 HG02132.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015a0002c0002t0001g0233a0002c0002t0001g0256others(2): Show | 5 | 320 | 0.0156 | 32 | c.472 others(45): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(26): Show |
splice_region_variant others(1): Show |
LOW | HG00735.hp1 HG03453.hp2 |
a0002 | a0002c0002a0002c0020 | a0002c0002t0001a0002c0020t0001 | a0002c0002t0001g0244a0002c0020t0001g0318 | 2 | 320 | 0.0063 | 33 | c.472 others(46): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(28): Show |
splice_region_variant others(1): Show |
LOW | HG02683.hp2 NA18983.hp2 |
a0002a0013 | a0002c0002a0013c0014 | a0002c0002t0001a0013c0014t0001 | a0002c0002t0001g0264a0013c0014t0001g0316 | 2 | 320 | 0.0063 | 35 | c.472 others(48): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(29): Show |
splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00639.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0247a0002c0002t0001g0249a0002c0002t0001g0266 | 3 | 320 | 0.0094 | 36 | c.472 others(49): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(30): Show |
splice_region_variant others(1): Show |
LOW | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0248 | 1 | 320 | 0.0031 | 37 | c.472 others(50): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(31): Show |
splice_region_variant others(1): Show |
LOW | NA19078.hp2 | a0025 | a0025c0030 | a0025c0030t0001 | a0025c0030t0001g0270 | 1 | 320 | 0.0031 | 38 | c.472 others(51): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20986266 | A | ATTTTTTT others(38): Show |
splice_region_variant others(1): Show |
LOW | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 | 1 | 320 | 0.0031 | 45 | c.472 others(58): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOCAD_chr9_20679259_21000950 | 20988427 | A | G | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
a0001a0002a0005others(25): Show | a0001c0001a0001c0009a0001c0010others(38): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(41): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0011others(238): Show | 241 | 320 | 0.7531 | 0 | c.500 others(4): Show |
p.Lys others(7): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 41/44 | 5069/5794 | 5002/5406 | 1668/1801 | chr9 | TogoVar | ||
FOCAD_chr9_20679259_21000950 | 20993331 | A | G | splice_region_variant others(1): Show |
LOW | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0110 | 1 | 320 | 0.0031 | 0 | c.533 others(6): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 43/43 | chr9 | TogoVar | ||||||
FOCAD_chr9_20679259_21000950 | 20995556 | C | T | missense_variant others(1): Show |
MODERATE | HG01167.hp2 HG01169.hp1 |
a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0206a0010c0018t0001g0207 | 2 | 320 | 0.0063 | 0 | c.533 others(4): Show |
p.Ala others(7): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 44/44 | 5400/5794 | 5333/5406 | 1778/1801 | chr9 | TogoVar | ||
FOLH1_chr11_49140092_49213602 | 49206068 | A | G | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(163): Show |
a0002 | a0002c0002a0002c0003a0002c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0025a0002c0002t0001g0245a0002c0002t0001g0289others(139): Show | 166 | 374 | 0.4439 | 0 | c.223 others(3): Show |
p.Tyr others(5): Show |
FOLH1 | ENSG00000086205.18 | transcript | ENST00000256999.7 | protein_coding | 2/19 | 416/4110 | 223/2253 | 75/750 | chr11 | TogoVar | ||
FOLR1_chr11_72187140_72201299 | 72196298 | C | T | splice_region_variant | LOW | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 412 | 0.0024 | 0 | c.*12 others(4): Show |
FOLR1 | ENSG00000110195.14 | transcript | ENST00000393676.5 | protein_coding | 4/4 | chr11 | TogoVar | ||||||
FOLR2_chr11_72211794_72226950 | 72216929 | A | G | splice_region_variant others(1): Show |
LOW | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 384 | 0.0026 | 0 | c.-25 others(5): Show |
FOLR2 | ENSG00000165457.15 | transcript | ENST00000298223.11 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
FOLR2_chr11_72211794_72226950 | 72218738 | C | T | splice_region_variant others(1): Show |
LOW | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 384 | 0.0026 | 0 | c.150 others(5): Show |
FOLR2 | ENSG00000165457.15 | transcript | ENST00000298223.11 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
FOSL2_chr2_28387858_28422317 | 28411923 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(90): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0004c0006others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(21): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0012others(70): Show | 93 | 364 | 0.2555 | 0 | c.463 others(5): Show |
FOSL2 | ENSG00000075426.12 | transcript | ENST00000264716.9 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
FOS_chr14_75273828_75287230 | 75280555 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00438.hp2 HG00597.hp1 others(57): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0004a0002c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0004g0005others(1): Show | 60 | 446 | 0.1345 | 0 | c.394 others(5): Show |
FOS | ENSG00000170345.10 | transcript | ENST00000303562.9 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
FOXD4L4_chr9_65732146_65743396 | 65738388 | CGCT | C | disruptive_inframe_deletion others(1): Show |
MODERATE | HG01168.hp1 HG02148.hp2 HG02293.hp1 others(6): Show |
a0005a0008 | a0005c0005a0008c0010 | a0005c0005t0000a0008c0010t0000 | a0005c0005t0000g0000a0008c0010t0000g0000 | 9 | 207 | 0.0435 | -3 | c.124 others(12): Show |
p.Cys others(6): Show |
FOXD4L4 | ENSG00000184659.6 | transcript | ENST00000377413.3 | protein_coding | 1/1 | 1248/1251 | 1248/1251 | 416/416 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |