| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MMP27_chr11_102686487_102710769 | 102702969 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02055.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0106 | 1 | 458 | 0.0022 | 0 | c.490 others(5): Show |
MMP27 | ENSG00000137675.5 | transcript | ENST00000260229.5 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
| MOK_chr14_102223836_102310164 | 102263544 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG01099.hp1 HG01257.hp1 others(13): Show |
a0002 | a0002c0006 | a0002c0006t0002a0002c0006t0004a0002c0006t0006 | a0002c0006t0002g0002a0002c0006t0002g0050a0002c0006t0002g0051others(12): Show | 16 | 252 | 0.0635 | 0 | c.283 others(5): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | TogoVar | ||||||
| MROH2A_chr2_233773330_233838418 | 233804548 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18992.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0299 | 1 | 378 | 0.0027 | 0 | c.194 others(6): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 18/41 | chr2 | TogoVar | ||||||
| MROH2A_chr2_233773330_233838418 | 233823665 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(41): Show |
a0001a0002a0004others(12): Show | a0001c0035a0002c0003a0002c0016others(23): Show | a0001c0035t0001a0002c0003t0001a0002c0016t0001others(23): Show | a0001c0035t0001g0235a0002c0003t0001g0109a0002c0016t0001g0294others(41): Show | 44 | 378 | 0.1164 | 0 | c.411 others(6): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 35/41 | chr2 | TogoVar | ||||||
| MROH7_chr1_54636786_54715266 | 54679440 | G | C | splice_donor_variant others(1): Show |
HIGH | NA19010.hp1 | a0014 | a0014c0014 | a0014c0014t0002 | a0014c0014t0002g0108 | 1 | 380 | 0.0026 | 0 | c.222 others(6): Show |
MROH7 | ENSG00000184313.20 | transcript | ENST00000421030.7 | protein_coding | 12/23 | chr1 | TogoVar | ||||||
| MRPL17_chr11_6675385_6688340 | 6682746 | C | A | splice_donor_variant others(1): Show |
HIGH | NA19012.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0022 | 1 | 416 | 0.0024 | 0 | c.243 others(5): Show |
MRPL17 | ENSG00000158042.9 | transcript | ENST00000288937.7 | protein_coding | 2/2 | chr11 | TogoVar | ||||||
| MRPL24_chr1_156732303_156746088 | 156741011 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 364 | 0.0028 | 0 | c.-61 others(5): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
| MRPL28_chr16_361969_375538 | 369912 | AGGCCGCC others(23): Show |
A | splice_donor_variant others(3): Show |
HIGH | NA18906.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0080 | 1 | 394 | 0.0025 | -30 | c.277 others(40): Show |
p.Asn others(11): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 2/6 | 277/771 | 93/256 | chr16 | TogoVar | |||
| MRPL36_chr5_1793385_1804837 | 1799789 | T | TACCCGGC others(11): Show |
splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0031others(2): Show | 85 | 432 | 0.1968 | 18 | c.-28 others(27): Show |
MRPL36 | ENSG00000171421.13 | transcript | ENST00000505059.7 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
| MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0004g0012others(6): Show | 169 | 436 | 0.3876 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
| MRS2_chr6_24397936_24431190 | 24416514 | G | A | splice_donor_variant others(1): Show |
HIGH | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 432 | 0.0023 | 0 | c.836 others(5): Show |
MRS2 | ENSG00000124532.15 | transcript | ENST00000378386.8 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
| MS4A1_chr11_60450847_60475752 | 60460691 | GTTAACAT others(1215): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00558.hp2 HG01192.hp1 HG01361.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008a0001c0001t0008g0023 | 12 | 446 | 0.0269 | -1222 | c.-27 others(17): Show |
MS4A1 | ENSG00000156738.18 | transcript | ENST00000345732.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MSR1_chr8_16102881_16197651 | 16177885 | C | A | splice_donor_variant others(1): Show |
HIGH | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 330 | 0.0030 | 0 | c.103 others(5): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
| MTIF3_chr13_27430643_27455564 | 27445072 | TGAGCATT others(47): Show |
T | splice_donor_variant others(3): Show |
HIGH | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 | 1 | 414 | 0.0024 | -54 | c.-40 others(63): Show |
MTIF3 | ENSG00000122033.15 | transcript | ENST00000381120.8 | protein_coding | 2/5 | 4625 | chr13 | TogoVar | |||||
| MTMR8_chrX_64263081_64400452 | 64356175 | C | A | splice_donor_variant others(1): Show |
HIGH | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 190 | 0.0053 | 0 | c.310 others(5): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 3/13 | chrX | TogoVar | ||||||
| MTUS1_chr8_17638802_17806094 | 17723130 | AAAATAAG others(1120): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00735.hp2 HG02004.hp1 HG02280.hp2 others(2): Show |
a0008a0024 | a0008c0020a0024c0067 | a0008c0020t0012a0024c0067t0012 | a0008c0020t0012g0086a0008c0020t0012g0110a0008c0020t0012g0171others(2): Show | 5 | 330 | 0.0152 | -1127 | c.228 others(17): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
| MUCL1_chr12_54849516_54863387 | 54854641 | G | T | splice_donor_variant others(1): Show |
HIGH | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 430 | 0.0023 | 0 | c.58+ others(4): Show |
MUCL1 | ENSG00000172551.12 | transcript | ENST00000308796.11 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
| MX1_chr21_41421239_41464212 | 41439849 | G | A | splice_donor_variant others(1): Show |
HIGH | NA19054.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0223 | 1 | 408 | 0.0025 | 0 | c.591 others(5): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 8/16 | chr21 | TogoVar | ||||||
| MYBPC2_chr19_50427892_50471321 | 50437522 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02559.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0213 | 2 | 396 | 0.0051 | 0 | c.512 others(5): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 6/27 | chr19 | TogoVar | ||||||
| MYBPC2_chr19_50427892_50471321 | 50458755 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02071.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0285 | 1 | 396 | 0.0025 | 0 | c.250 others(6): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 21/27 | chr19 | TogoVar | ||||||
| MYH11_chr16_15698135_15862028 | 15738564 | C | A | splice_donor_variant others(1): Show |
HIGH | HG01168.hp1 | a0008 | a0008c0039 | a0008c0039t0002 | a0008c0039t0002g0118 | 1 | 297 | 0.0034 | 0 | c.312 others(6): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 24/40 | chr16 | TogoVar | ||||||
| MYO15B_chr17_75582800_75631849 | 75590244 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00609.hp1 HG01257.hp2 HG01258.hp1 others(11): Show |
a0010a0011a0012others(4): Show | a0010c0016a0011c0029a0011c0075others(6): Show | a0010c0016t0001a0011c0029t0001a0011c0029t0008others(7): Show | a0010c0016t0001g0040a0011c0029t0001g0031a0011c0029t0008g0032others(10): Show | 14 | 384 | 0.0365 | 0 | c.218 others(6): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/63 | chr17 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 49864139 | A | AC | splice_donor_variant others(1): Show |
HIGH | HG00738.hp1 HG00738.hp2 NA18979.hp2 |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0025 | a0001c0001t0001a0003c0004t0003a0008c0025t0002 | a0001c0001t0001g0146a0003c0004t0003g0110a0008c0025t0002g0106 | 3 | 238 | 0.0126 | 1 | c.384 others(7): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 28/39 | chr18 | TogoVar | ||||||
| NAA10_chrX_153924225_153940037 | 153934882 | A | AC | splice_donor_variant others(1): Show |
HIGH | NA19006.hp1 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0017 | 1 | 292 | 0.0034 | 1 | c.21+ others(5): Show |
NAA10 | ENSG00000102030.16 | transcript | ENST00000464845.6 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| NAA16_chr13_41306267_41382030 | 41372284 | TTAGCATT others(24): Show |
T | frameshift_variant others(3): Show |
HIGH | HG03688.hp2 | a0007 | a0007c0008 | a0007c0008t0026 | a0007c0008t0026g0078 | 1 | 354 | 0.0028 | -31 | c.203 others(42): Show |
p.Ala others(5): Show |
NAA16 | ENSG00000172766.19 | transcript | ENST00000379406.8 | protein_coding | 16/20 | 2294/4285 | 2032/2595 | 678/864 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
| NAAA_chr4_75908660_75946013 | 75920950 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02055.hp2 HG02895.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0017a0001c0006t0001g0206a0001c0006t0001g0212 | 4 | 400 | 0.0100 | 0 | c.839 others(5): Show |
NAAA | ENSG00000138744.16 | transcript | ENST00000286733.9 | protein_coding | 6/10 | chr4 | TogoVar | ||||||
| NAALADL1_chr11_65039818_65063553 | 65054453 | A | ACCAGAGG others(8): Show |
splice_donor_variant others(1): Show |
HIGH | NA19065.hp1 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0112 | 1 | 372 | 0.0027 | 15 | c.887 others(26): Show |
NAALADL1 | ENSG00000168060.16 | transcript | ENST00000358658.8 | protein_coding | 5/17 | chr11 | TogoVar | ||||||
| NAT9_chr17_74765529_74781345 | 74771958 | A | G | splice_donor_variant others(1): Show |
HIGH | HG01515.hp2 | a0000 | a0000c0008 | a0000c0008t0012 | a0000c0008t0012g0046 | 1 | 386 | 0.0026 | 0 | c.489 others(5): Show |
NAT9 | ENSG00000109065.12 | transcript | ENST00000357814.8 | protein_coding | 6/6 | chr17 | TogoVar | ||||||
| NAV1_chr1_201534127_201831969 | 201586841 | AACACAAA others(3183): Show |
A | splice_acceptor_variant others(5): Show |
HIGH | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0015 | 1 | 210 | 0.0048 | -3190 | c.-14 others(18): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBEAL1_chr2_203009875_203230194 | 203136775 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0058 | 1 | 292 | 0.0034 | 0 | c.456 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | TogoVar | ||||||
| NBPF11_chr1_148097151_148157281 | 148143413 | A | C | splice_donor_variant others(1): Show |
HIGH | HG02615.hp1 HG02818.hp2 |
a0002 | a0002c0015 | a0002c0015t0011 | a0002c0015t0011g0020a0002c0015t0011g0021 | 2 | 388 | 0.0052 | 0 | c.-27 others(6): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 2/23 | chr1 | TogoVar | ||||||
| NBPF3_chr1_21435137_21489900 | 21474942 | TGTCTCCC others(2): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01099.hp1 HG01106.hp2 HG01346.hp1 others(17): Show |
a0004a0015a0021 | a0004c0004a0015c0028a0021c0018 | a0004c0004t0005a0015c0028t0007a0021c0018t0005 | a0004c0004t0005g0013a0004c0004t0005g0022a0004c0004t0005g0060others(14): Show | 20 | 394 | 0.0508 | -9 | c.986 others(18): Show |
p.Ser others(5): Show |
NBPF3 | ENSG00000142794.19 | transcript | ENST00000318249.10 | protein_coding | 8/15 | 1337/3767 | 986/1902 | 329/633 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| NBPF9_chr1_149047186_149108551 | 149059699 | C | T | splice_donor_variant others(1): Show |
HIGH | NA19078.hp2 | a0032 | a0032c0032 | a0032c0032t0034 | a0032c0032t0034g0191 | 1 | 344 | 0.0029 | 0 | c.258 others(6): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 25/29 | chr1 | TogoVar | ||||||
| NCAM1_chr11_112956420_113283436 | 113246372 | T | C | splice_donor_variant others(1): Show |
HIGH | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 242 | 0.0041 | 0 | c.182 others(6): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 15/19 | chr11 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50522253 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(83): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0017others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0005a0001c0001t0002g0013a0001c0001t0002g0022others(59): Show | 86 | 384 | 0.2240 | 0 | c.123 others(6): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 14/19 | chr22 | TogoVar | ||||||
| NCBP2_chr3_196930406_196947528 | 196939249 | A | T | splice_donor_variant others(1): Show |
HIGH | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0054 | 1 | 420 | 0.0024 | 0 | c.260 others(5): Show |
NCBP2 | ENSG00000114503.11 | transcript | ENST00000321256.10 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
| NCLN_chr19_3180930_3214575 | 3192658 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG02615.hp2 NA19000.hp1 NA19058.hp1 others(1): Show |
a0003 | a0003c0012a0003c0014 | a0003c0012t0001a0003c0012t0010a0003c0014t0001others(1): Show | a0003c0012t0001g0263a0003c0012t0010g0199a0003c0014t0001g0019others(1): Show | 4 | 410 | 0.0098 | 1 | c.375 others(6): Show |
NCLN | ENSG00000125912.11 | transcript | ENST00000246117.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NCOA1_chr2_24486254_24775702 | 24758157 | G | T | splice_donor_variant others(1): Show |
HIGH | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0242 | 1 | 314 | 0.0032 | 0 | c.406 others(6): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 21/22 | chr2 | TogoVar | ||||||
| NCOA6_chr20_34709774_34830651 | 34768450 | GTGGGAGG others(12): Show |
G | splice_donor_variant others(3): Show |
HIGH | NA19003.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0217 | 1 | 290 | 0.0035 | -19 | c.509 others(29): Show |
p.Pro others(13): Show |
NCOA6 | ENSG00000198646.14 | transcript | ENST00000359003.7 | protein_coding | 5/15 | 509/6192 | 170/2063 | chr20 | TogoVar | |||
| NEIL1_chr15_75342039_75362115 | 75349341 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 2 | 396 | 0.0051 | 0 | c.434 others(5): Show |
NEIL1 | ENSG00000140398.14 | transcript | ENST00000355059.9 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
| NEK10_chr3_27101484_27374383 | 27250812 | TTGTTTCT others(25411): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01884.hp2 | a0012 | a0012c0022 | a0012c0022t0009 | a0012c0022t0009g0231 | 1 | 234 | 0.0043 | -25418 | c.201 others(19): Show |
NEK10 | ENSG00000163491.18 | transcript | ENST00000691995.1 | protein_coding | 23/36 | chr3 | TogoVar | ||||||
| NEK3_chr13_52127647_52164597 | 52151143 | C | CA | splice_donor_variant others(1): Show |
HIGH | NA18944.hp1 NA18960.hp1 NA18963.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0015 | 4 | 398 | 0.0101 | 1 | c.548 others(6): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 7/15 | chr13 | TogoVar | ||||||
| NFRKB_chr11_129858636_129900578 | 129881442 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18960.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0117 | 1 | 410 | 0.0024 | 0 | c.138 others(6): Show |
NFRKB | ENSG00000170322.15 | transcript | ENST00000682444.1 | protein_coding | 13/26 | chr11 | TogoVar | ||||||
| NIBAN3_chr19_17522267_17558640 | 17527396 | G | C | splice_donor_variant others(1): Show |
HIGH | HG01168.hp2 HG01169.hp2 |
a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0037a0005c0006t0006g0038 | 2 | 404 | 0.0050 | 0 | c.55+ others(4): Show |
NIBAN3 | ENSG00000167483.19 | transcript | ENST00000599164.6 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
| NIPSNAP3B_chr9_104759129_104782764 | 104772909 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02055.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 2 | 452 | 0.0044 | 0 | c.667 others(5): Show |
NIPSNAP3B | ENSG00000165028.12 | transcript | ENST00000374762.4 | protein_coding | 5/5 | chr9 | TogoVar | ||||||
| NKAP_chrX_119915672_119948751 | 119932105 | A | AC | splice_donor_variant others(1): Show |
HIGH | NA19055.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0036 | 1 | 320 | 0.0031 | 1 | c.847 others(6): Show |
NKAP | ENSG00000101882.10 | transcript | ENST00000371410.5 | protein_coding | 6/8 | chrX | TogoVar | ||||||
| NLRP2_chr19_54961374_55006138 | 54965622 | ATTTTTTG others(1084): Show |
A | splice_donor_variant others(4): Show |
HIGH | HG00558.hp2 | a0003 | a0003c0005 | a0003c0005t0026 | a0003c0005t0026g0429 | 1 | 429 | 0.0023 | -1091 | c.-84 others(12): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP5_chr19_55994726_56066810 | 56019729 | CAGTAATT others(1026): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02809.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
a0016a0045 | a0016c0097a0016c0129a0016c0130others(1): Show | a0016c0097t0001a0016c0129t0001a0016c0130t0003others(1): Show | a0016c0097t0001g0107a0016c0129t0001g0100a0016c0130t0003g0316others(1): Show | 4 | 396 | 0.0101 | -1033 | c.622 others(15): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NME2_chr17_51161411_51176744 | 51166498 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01099.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0031 | 9 | 413 | 0.0218 | 0 | c.-5+ others(4): Show |
NME2 | ENSG00000243678.12 | transcript | ENST00000512737.6 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| NMI_chr2_151265470_151294668 | 151289591 | A | C | splice_donor_variant others(1): Show |
HIGH | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 410 | 0.0024 | 0 | c.-7+ others(4): Show |
NMI | ENSG00000123609.11 | transcript | ENST00000243346.10 | protein_coding | 1/7 | chr2 | TogoVar |