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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNHD1_chr11_6492280_6577020 | 6565998 | G | A | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(95): Show |
a0004a0006a0009others(39): Show | a0004c0013a0004c0124a0004c0133others(49): Show | a0004c0013t0002a0004c0124t0002a0004c0133t0002others(49): Show | a0004c0013t0002g0154a0004c0013t0002g0155a0004c0013t0002g0156others(93): Show | 98 | 342 | 0.2866 | 0 | c.110 others(7): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 33/42 | chr11 | TogoVar | ||||||
DNLZ_chr9_136354483_136368744 | 136362986 | C | T | splice_region_variant others(1): Show |
LOW | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 418 | 0.0024 | 0 | c.368 others(5): Show |
DNLZ | ENSG00000213221.5 | transcript | ENST00000371738.4 | protein_coding | 2/2 | chr9 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32707368 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(52): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(5): Show | a0001c0002t0002g0001a0001c0002t0002g0016a0001c0002t0002g0019others(51): Show | 55 | 230 | 0.2391 | 0 | c.252 others(3): Show |
p.Gly others(5): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 3/20 | 315/4514 | 252/2211 | 84/736 | chr12 | TogoVar | ||
DNM1_chr9_128198379_128260244 | 128239720 | C | T | splice_region_variant others(1): Show |
LOW | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 | 1 | 350 | 0.0029 | 0 | c.149 others(6): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 12/21 | chr9 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128242229 | C | T | splice_region_variant others(1): Show |
LOW | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0170 | 1 | 350 | 0.0029 | 0 | c.155 others(6): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 14/21 | chr9 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128248577 | T | C | splice_region_variant others(1): Show |
LOW | NA18942.hp1 NA19064.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142a0001c0002t0001g0181 | 2 | 350 | 0.0057 | 0 | c.190 others(6): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 18/21 | chr9 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128250726 | T | C | missense_variant others(1): Show |
MODERATE | NA18968.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0285 | 1 | 350 | 0.0029 | 0 | c.232 others(4): Show |
p.Ser others(6): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 21/22 | 2412/3217 | 2320/2595 | 774/864 | chr9 | TogoVar | ||
DNM2_chr19_10713079_10836903 | 10759724 | T | TC | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG01243.hp1 HG03098.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0032a0001c0001t0001g0039a0001c0001t0001g0181others(7): Show | 10 | 278 | 0.0360 | 1 | c.162 others(6): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DNM2_chr19_10713079_10836903 | 10759731 | C | A | splice_region_variant others(1): Show |
LOW | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0144 | 1 | 278 | 0.0036 | 0 | c.162 others(5): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10759817 | A | G | splice_region_variant others(1): Show |
LOW | HG02257.hp1 NA19030.hp2 NA20129.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0002a0001c0009t0002 | a0001c0002t0002g0004a0001c0002t0002g0140a0001c0009t0002g0018 | 3 | 278 | 0.0108 | 0 | c.235 others(5): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 2/20 | chr19 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10775697 | T | A | splice_region_variant others(1): Show |
LOW | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 278 | 0.0036 | 0 | c.386 others(5): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 3/20 | chr19 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 171841820 | A | G | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(84): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0051a0001c0001t0001g0072a0001c0001t0001g0073others(84): Show | 87 | 136 | 0.6397 | 0 | c.161 others(5): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172323347 | T | G | splice_region_variant others(1): Show |
LOW | HG01192.hp1 HG02572.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0019 | a0001c0002t0001g0104a0001c0002t0001g0107a0001c0002t0004g0046others(1): Show | 4 | 136 | 0.0294 | 0 | c.189 others(6): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172379182 | C | T | splice_region_variant others(1): Show |
LOW | HG02965.hp2 NA21309.hp2 |
a0001 | a0001c0006a0001c0010 | a0001c0006t0005a0001c0010t0005 | a0001c0006t0005g0103a0001c0010t0005g0131 | 2 | 136 | 0.0147 | 0 | c.205 others(4): Show |
p.Asn others(6): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 18/21 | 2217/7627 | 2058/2592 | 686/863 | chr1 | TogoVar | ||
DNMBP_chr10_99870577_100014947 | 99894939 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(127): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0006others(16): Show | a0001c0001t0003a0001c0004t0002a0001c0006t0001others(29): Show | a0001c0001t0003g0024a0001c0001t0003g0025a0001c0001t0003g0101others(127): Show | 130 | 274 | 0.4745 | 0 | c.315 others(6): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 11/16 | chr10 | TogoVar | ||||||
DNMBP_chr10_99870577_100014947 | 99895058 | A | G | splice_region_variant others(1): Show |
LOW | HG03492.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0269 | 1 | 274 | 0.0037 | 0 | c.305 others(6): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 10/16 | chr10 | TogoVar | ||||||
DNMT1_chr19_10128346_10199953 | 10149661 | G | A | splice_region_variant others(1): Show |
LOW | HG00597.hp2 NA18948.hp2 NA18970.hp2 others(5): Show |
a0001a0005 | a0001c0007a0005c0011 | a0001c0007t0001a0005c0011t0001 | a0001c0007t0001g0371a0001c0007t0001g0372a0001c0007t0001g0373others(5): Show | 8 | 386 | 0.0207 | 0 | c.238 others(6): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 25/40 | chr19 | TogoVar | ||||||
DNMT1_chr19_10128346_10199953 | 10160070 | GA | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(18): Show | a0001c0001t0001g0004a0001c0001t0001g0124a0001c0001t0001g0125others(211): Show | 218 | 386 | 0.5648 | -1 | c.104 others(7): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 14/40 | chr19 | TogoVar | ||||||
DNMT1_chr19_10128346_10199953 | 10160070 | GAA | G | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp2 HG00558.hp2 others(95): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(8): Show | a0001c0001t0001g0251a0001c0002t0001g0110a0001c0010t0001g0097others(93): Show | 98 | 386 | 0.2539 | -2 | c.104 others(15): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 14/40 | chr19 | TogoVar | ||||||
DNMT1_chr19_10128346_10199953 | 10163327 | G | C | missense_variant others(1): Show |
MODERATE | HG03130.hp2 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0120 | 1 | 386 | 0.0026 | 0 | c.925 others(3): Show |
p.Leu others(6): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 12/41 | 979/5274 | 925/4899 | 309/1632 | chr19 | TogoVar | ||
DNMT1_chr19_10128346_10199953 | 10180343 | C | T | splice_region_variant others(1): Show |
LOW | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 | 1 | 386 | 0.0026 | 0 | c.445 others(5): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 4/40 | chr19 | TogoVar | ||||||
DNMT1_chr19_10128346_10199953 | 10182080 | G | A | splice_region_variant others(1): Show |
LOW | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 386 | 0.0026 | 0 | c.81- others(4): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 1/40 | chr19 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25240641 | G | A | splice_region_variant others(1): Show |
LOW | HG01943.hp2 | a0001 | a0001c0007 | a0001c0007t0042 | a0001c0007t0042g0200 | 1 | 294 | 0.0034 | 0 | c.217 others(4): Show |
p.Tyr others(6): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 18/23 | 2449/9421 | 2172/2739 | 724/912 | chr2 | TogoVar | ||
DNMT3A_chr2_25222874_25346925 | 25246316 | G | A | splice_region_variant others(1): Show |
LOW | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0060 | 1 | 294 | 0.0034 | 0 | c.128 others(6): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 10/22 | chr2 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25247044 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(144): Show | a0001c0001t0001g0023a0001c0001t0001g0148a0001c0001t0001g0173others(183): Show | 186 | 294 | 0.6327 | 0 | c.112 others(6): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 9/22 | chr2 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25248031 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0246 | 1 | 294 | 0.0034 | 0 | c.855 others(5): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 7/22 | chr2 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25300241 | G | A | splice_region_variant others(1): Show |
LOW | NA19043.hp2 | a0001 | a0001c0011 | a0001c0011t0019 | a0001c0011t0019g0004 | 1 | 294 | 0.0034 | 0 | c.75C others(2): Show |
p.Asp others(5): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 3/23 | 352/9421 | 75/2739 | 25/912 | chr2 | TogoVar | ||
DNMT3B_chr20_32757385_32814356 | 32798643 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(240): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(218): Show | 243 | 298 | 0.8154 | 0 | c.167 others(4): Show |
p.Tyr others(6): Show |
DNMT3B | ENSG00000088305.19 | transcript | ENST00000328111.6 | protein_coding | 15/23 | 1995/4336 | 1674/2562 | 558/853 | chr20 | TogoVar | ||
DNMT3B_chr20_32757385_32814356 | 32800145 | C | G | splice_region_variant others(1): Show |
LOW | HG01261.hp1 HG02055.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0002t0001g0015others(5): Show | 9 | 298 | 0.0302 | 0 | c.176 others(6): Show |
DNMT3B | ENSG00000088305.19 | transcript | ENST00000328111.6 | protein_coding | 16/22 | chr20 | TogoVar | ||||||
DNMT3B_chr20_32757385_32814356 | 32800148 | C | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(221): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(200): Show | 224 | 298 | 0.7517 | 0 | c.176 others(6): Show |
DNMT3B | ENSG00000088305.19 | transcript | ENST00000328111.6 | protein_coding | 16/22 | chr20 | TogoVar | ||||||
DNMT3B_chr20_32757385_32814356 | 32800830 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(235): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(213): Show | 238 | 298 | 0.7987 | 0 | c.190 others(6): Show |
DNMT3B | ENSG00000088305.19 | transcript | ENST00000328111.6 | protein_coding | 17/22 | chr20 | TogoVar | ||||||
DNMT3B_chr20_32757385_32814356 | 32800928 | G | A | splice_region_variant others(1): Show |
LOW | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 298 | 0.0034 | 0 | c.199 others(6): Show |
DNMT3B | ENSG00000088305.19 | transcript | ENST00000328111.6 | protein_coding | 18/22 | chr20 | TogoVar | ||||||
DNMT3B_chr20_32757385_32814356 | 32800931 | C | T | splice_region_variant others(1): Show |
LOW | HG01261.hp1 HG02055.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0002t0001g0015others(5): Show | 9 | 298 | 0.0302 | 0 | c.199 others(6): Show |
DNMT3B | ENSG00000088305.19 | transcript | ENST00000328111.6 | protein_coding | 18/22 | chr20 | TogoVar | ||||||
DNMT3L_chr21_44241339_44266897 | 44249028 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0201 | 1 | 392 | 0.0026 | 0 | c.993 others(3): Show |
p.Arg others(6): Show |
DNMT3L | ENSG00000142182.9 | transcript | ENST00000628202.3 | protein_coding | 11/12 | 1158/1384 | 993/1161 | 331/386 | chr21 | TogoVar | ||
DNMT3L_chr21_44241339_44266897 | 44261270 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(319): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(214): Show | 322 | 392 | 0.8214 | 0 | c.-7- others(4): Show |
DNMT3L | ENSG00000142182.9 | transcript | ENST00000628202.3 | protein_coding | 1/11 | chr21 | TogoVar | ||||||
DNPEP_chr2_219367043_219392912 | 219382144 | C | T | splice_region_variant others(1): Show |
LOW | NA18942.hp2 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0089 | 2 | 370 | 0.0054 | 0 | c.937 others(5): Show |
DNPEP | ENSG00000123992.20 | transcript | ENST00000273075.9 | protein_coding | 10/14 | chr2 | TogoVar | ||||||
DNPEP_chr2_219367043_219392912 | 219382145 | G | A | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02280.hp2 HG02922.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0005 | a0001c0002t0001g0066a0002c0003t0005g0080a0002c0003t0005g0081 | 3 | 370 | 0.0081 | 0 | c.937 others(5): Show |
DNPEP | ENSG00000123992.20 | transcript | ENST00000273075.9 | protein_coding | 10/14 | chr2 | TogoVar | ||||||
DNPEP_chr2_219367043_219392912 | 219385710 | T | G | splice_region_variant others(1): Show |
LOW | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 370 | 0.0027 | 0 | c.591 others(5): Show |
DNPEP | ENSG00000123992.20 | transcript | ENST00000273075.9 | protein_coding | 6/14 | chr2 | TogoVar | ||||||
DNPEP_chr2_219367043_219392912 | 219386104 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(301): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(124): Show | 304 | 370 | 0.8216 | 0 | c.460 others(5): Show |
DNPEP | ENSG00000123992.20 | transcript | ENST00000273075.9 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
DNPEP_chr2_219367043_219392912 | 219386659 | C | T | splice_region_variant others(1): Show |
LOW | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 370 | 0.0027 | 0 | c.333 others(5): Show |
DNPEP | ENSG00000123992.20 | transcript | ENST00000273075.9 | protein_coding | 4/14 | chr2 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45803382 | T | G | splice_region_variant others(1): Show |
LOW | NA19070.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0069 | 1 | 412 | 0.0024 | 0 | c.603 others(5): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 8/12 | chr20 | TogoVar | ||||||
DNTT_chr10_96299434_96343564 | 96304707 | C | G | splice_region_variant others(1): Show |
LOW | HG02809.hp2 HG03225.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265a0001c0001t0001g0266a0001c0001t0001g0267 | 3 | 330 | 0.0091 | 0 | c.203 others(5): Show |
DNTT | ENSG00000107447.8 | transcript | ENST00000371174.5 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
DNTT_chr10_96299434_96343564 | 96319395 | C | T | splice_region_variant others(1): Show |
LOW | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 330 | 0.0030 | 0 | c.507 others(5): Show |
DNTT | ENSG00000107447.8 | transcript | ENST00000371174.5 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
DOC2A_chr16_30000514_30016027 | 30006952 | C | T | splice_region_variant others(1): Show |
LOW | HG02258.hp1 HG02615.hp1 HG02723.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 12 | 328 | 0.0366 | 0 | c.715 others(5): Show |
DOC2A | ENSG00000149927.18 | transcript | ENST00000350119.9 | protein_coding | 7/10 | chr16 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 142789 | T | A | splice_region_variant | LOW | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0007a0001c0002t0016a0001c0002t0023others(2): Show | a0001c0001t0007g0278a0001c0002t0016g0267a0001c0002t0016g0268others(7): Show | 10 | 339 | 0.0295 | 0 | c.*46 others(5): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 9/9 | chr17 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 164208 | G | T | splice_region_variant others(1): Show |
LOW | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 339 | 0.0030 | 0 | c.454 others(5): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224800267 | T | C | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02257.hp2 HG03579.hp1 |
a0002a0017 | a0002c0012a0017c0035 | a0002c0012t0001a0017c0035t0002 | a0002c0012t0001g0083a0002c0012t0001g0084a0017c0035t0002g0103 | 3 | 172 | 0.0174 | 0 | c.439 others(6): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 40/55 | chr2 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224814314 | A | C | splice_region_variant others(1): Show |
LOW | HG03017.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0152 | 1 | 172 | 0.0058 | 0 | c.340 others(6): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 31/55 | chr2 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224830617 | TG | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(38): Show |
a0001a0002a0011others(3): Show | a0001c0020a0002c0002a0002c0012others(6): Show | a0001c0020t0002a0002c0002t0001a0002c0002t0003others(8): Show | a0001c0020t0002g0054a0002c0002t0001g0048a0002c0002t0001g0050others(38): Show | 41 | 172 | 0.2384 | -1 | c.296 others(7): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 26/55 | chr2 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224834151 | T | A | missense_variant others(1): Show |
MODERATE | HG03130.hp1 | a0013 | a0013c0026 | a0013c0026t0008 | a0013c0026t0008g0089 | 1 | 172 | 0.0058 | 0 | c.296 others(4): Show |
p.Lys others(6): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 26/56 | 3057/7286 | 2963/6561 | 988/2186 | chr2 | TogoVar |