| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GAL3ST2_chr2_241771822_241809287 | 241805526 | CCCCCCTC others(891): Show |
C | downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 314 | 0.0032 | -898 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1240 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805526 | CCCCCCTC others(891): Show |
C | upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 319 | 0.0031 | -898 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3666 | chr2 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288654 | TCTGCTCC others(891): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 290 | 0.0035 | -898 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SRGAP2B_chr1_144882288_145100328 | 144883081 | AGGGGGCA others(891): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp1 NA18941.hp1 NA18959.hp1 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0002a0009c0008t0005 | a0001c0001t0002g0004a0001c0001t0002g0008a0009c0008t0005g0039 | 3 | 56 | 0.0536 | -898 | c.*81 others(11): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4206 | chr1 | TogoVar | ||||||
| ZDHHC11_chr5_790605_855986 | 852741 | CGGGGGAC others(891): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp1 NA18950.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0164a0001c0001t0001g0172 | 4 | 312 | 0.0128 | -898 | c.-30 others(11): Show |
ZDHHC11 | ENSG00000188818.13 | transcript | ENST00000283441.13 | protein_coding | 1756 | chr5 | TogoVar | ||||||
| CEP72_chr5_607340_658553 | 630151 | TGCCGGGA others(890): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(15): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0001 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(15): Show | 18 | 91 | 0.1978 | -897 | c.513 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CFAP97D2_chr13_114174257_114228085 | 114198668 | TGAGGCGT others(890): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0083 | 1 | 400 | 0.0025 | -897 | c.172 others(16): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| DOCK5_chr8_25179689_25420711 | 25189933 | CTGGAGTG others(890): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0099 | 1 | 210 | 0.0048 | -897 | c.43+ others(15): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| INTS9_chr8_28762661_28894969 | 28879250 | CAGGAATG others(890): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 358 | 0.0028 | -897 | c.9+9 others(14): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 1/16 | chr8 | TogoVar | ||||||
| GRIK1_chr21_29531933_29944996 | 29614477 | CATCTCAG others(889): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03516.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0083a0001c0001t0001g0150a0001c0002t0001g0088others(1): Show | 4 | 162 | 0.0247 | -896 | c.109 others(21): Show |
GRIK1 | ENSG00000171189.18 | transcript | ENST00000327783.9 | protein_coding | 7/17 | chr21 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1991280 | CGAGCACC others(889): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02630.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0152a0001c0001t0001g0211a0001c0001t0002g0112others(4): Show | 7 | 264 | 0.0265 | -896 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| RAB40C_chr16_585066_634268 | 611798 | CAAGGGAC others(889): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0184a0001c0001t0007g0320 | 2 | 350 | 0.0057 | -896 | c.143 others(17): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SDHA_chr5_213320_262082 | 260750 | TCACAGCA others(889): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 266 | 0.0038 | -896 | c.*43 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3669 | chr5 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1430118 | GTCTGGTC others(888): Show |
G | intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0152 | 1 | 360 | 0.0028 | -895 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137328901 | ACTACACA others(887): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0029 | 1 | 82 | 0.0122 | -894 | c.199 others(19): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| NDUFAF2_chr5_60940205_61158026 | 61083562 | CATCCTGA others(887): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0021 | 2 | 266 | 0.0075 | -894 | c.217 others(19): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PPIL2_chr22_21661012_21702907 | 21692401 | ACCTTGGC others(887): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 378 | 0.0027 | -894 | c.114 others(18): Show |
PPIL2 | ENSG00000100023.20 | transcript | ENST00000398831.8 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| ROBO2_chr3_77035099_77654964 | 77293546 | ACTAAAGA others(887): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01978.hp2 HG02109.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0126a0001c0001t0003g0048a0001c0001t0004g0010others(20): Show | 23 | 160 | 0.1438 | -894 | c.389 others(21): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| INSR_chr19_7107265_7299414 | 7263278 | CAAAAAAA others(886): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0050 | a0001c0050t0026 | a0001c0050t0026g0080 | 1 | 300 | 0.0033 | -893 | c.652 others(17): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 2034396 | AACAATCT others(886): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02698.hp1 HG03098.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0072a0001c0002t0002g0031a0001c0002t0002g0045others(6): Show | 9 | 104 | 0.0865 | -893 | c.-15 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 2034523 | CGGGTGCA others(886): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG03834.hp1 HG03942.hp2 |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0001a0001c0004t0001a0001c0006t0007 | a0001c0002t0001g0060a0001c0004t0001g0084a0001c0006t0007g0098 | 3 | 104 | 0.0289 | -893 | c.-15 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| PADI4_chr1_17303197_17369004 | 17315532 | AACATTCC others(886): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0016 | a0016c0027 | a0016c0027t0001 | a0016c0027t0001g0023 | 1 | 372 | 0.0027 | -893 | c.92+ others(15): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129858125 | TGTAACGG others(886): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02145.hp1 HG02698.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0008a0001c0001t0010a0001c0002t0004others(2): Show | a0001c0001t0008g0092a0001c0001t0010g0034a0001c0002t0004g0077others(2): Show | 5 | 94 | 0.0532 | -893 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| CMTM8_chr3_32233680_32375321 | 32297446 | TTGGGATT others(885): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01515.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0140 | 3 | 344 | 0.0087 | -892 | c.147 others(19): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CSNK2B_chr6_31661080_31675067 | 31670427 | ACAAGGTC others(885): Show |
A | downstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 421 | 0.0048 | -892 | c.*50 others(10): Show |
CSNK2B | ENSG00000204435.15 | transcript | ENST00000375882.7 | protein_coding | 361 | chr6 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2276980 | GAAGAGAG others(885): Show |
G | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 50 | 0.0200 | -892 | c.389 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346252 | CCGAGAGC others(885): Show |
C | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 288 | 0.0035 | -892 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346486 | GCCTGACA others(885): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 288 | 0.0035 | -892 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| LY6G5B_chr6_31664976_31678546 | 31670427 | ACAAGGTC others(885): Show |
A | exon_loss_variant | HIGH | HG03490.hp2 HG03492.hp2 |
a0005 | a0005c0008 | a0005c0008t0018 | a0005c0008t0018g0005 | 2 | 415 | 0.0048 | -892 | c.-52 others(11): Show |
LY6G5B | ENSG00000240053.9 | transcript | ENST00000375864.5 | protein_coding | 2/3 | 455/2845 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
| PRKCZ_chr1_2045411_2190395 | 2121985 | CACGGCGG others(885): Show |
C | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 286 | 0.0035 | -892 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| TCF25_chr16_89868592_89916379 | 89901367 | AGCTGTGA others(885): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0173a0001c0001t0001g0175others(3): Show | 6 | 300 | 0.0200 | -892 | c.138 others(18): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235709 | CCCTGTGT others(884): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG03139.hp2 NA18983.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0003a0001c0001t0017a0001c0001t0058others(2): Show | a0001c0001t0003g0097a0001c0001t0017g0030a0001c0001t0058g0099others(2): Show | 5 | 106 | 0.0472 | -891 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635086 | GTGGATGG others(884): Show |
G | intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0278 | 1 | 388 | 0.0026 | -891 | c.59- others(15): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43496032 | AGGTGGTG others(884): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0052 | 1 | 250 | 0.0040 | -891 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PRKCA_chr17_66297613_66815743 | 66798473 | GTGGTGGT others(884): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0060 | a0001c0002t0060g0178 | 1 | 178 | 0.0056 | -891 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PROSER2_chr10_11818356_11877277 | 11819320 | GTAATTTT others(883): Show |
G | upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0219 | 1 | 348 | 0.0029 | -890 | c.-42 others(11): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 4035 | chr10 | TogoVar | ||||||
| SLCO4A1_chr20_62637503_62677293 | 62672898 | AGATCAGA others(882): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(51): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0001c0029others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0009a0001c0001t0001g0224a0001c0001t0001g0266others(43): Show | 54 | 432 | 0.1250 | -889 | c.*10 others(11): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 606 | chr20 | TogoVar | ||||||
| WWOX_chr16_78094654_79217667 | 78842762 | GATTCATT others(882): Show |
G | intron_variant | MODIFIER | HG03239.hp1 NA19066.hp1 |
a0017a0018 | a0017c0012a0018c0020 | a0017c0012t0004a0018c0020t0002 | a0017c0012t0004g0087a0018c0020t0002g0043 | 2 | 142 | 0.0141 | -889 | c.105 others(23): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 8/8 | chr16 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 138018008 | TCAGGTGC others(881): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0012 | a0012c0036 | a0012c0036t0014 | a0012c0036t0014g0224 | 1 | 248 | 0.0040 | -888 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RAB31_chr18_9703301_9867551 | 9815263 | CCATCCCT others(881): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(50): Show | 53 | 322 | 0.1646 | -888 | c.380 others(14): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114005904 | CGGACGCC others(881): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 67 | 0.0149 | -888 | c.174 others(18): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1070730 | GCCCCCAG others(881): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0009 | 1 | 118 | 0.0085 | -888 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1013170 | GGGATTTA others(881): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0015 | a0015c0036 | a0015c0036t0001 | a0015c0036t0001g0070 | 1 | 190 | 0.0053 | -888 | c.72+ others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CCDC77_chr12_396644_447642 | 419828 | AAAATACA others(880): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG01952.hp1 HG02647.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0002a0003c0003t0004 | a0001c0001t0004g0213a0003c0003t0002g0374a0003c0003t0004g0212 | 3 | 432 | 0.0069 | -887 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CLASP1_chr2_121332776_121654462 | 121630898 | GCCTGTAA others(880): Show |
G | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0213 | 1 | 214 | 0.0047 | -887 | c.-28 others(21): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
| CYP4F3_chr19_15635897_15667825 | 15666938 | GTTGTTGC others(880): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0412 | 1 | 424 | 0.0024 | -887 | c.*75 others(11): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 4114 | chr19 | TogoVar | ||||||
| CLASP2_chr3_33491245_33723254 | 33511697 | TAAGAACA others(879): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(139): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0008a0001c0001t0002g0018a0001c0001t0002g0019others(139): Show | 142 | 278 | 0.5108 | -886 | c.411 others(18): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 36/38 | chr3 | TogoVar | ||||||
| PLXNA4_chr7_132118340_132581470 | 132562073 | TTCCTCCT others(879): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0017 | a0001c0001t0003a0001c0001t0013a0001c0006t0007others(1): Show | a0001c0001t0003g0087a0001c0001t0013g0086a0001c0006t0007g0085others(1): Show | 4 | 88 | 0.0455 | -886 | c.-87 others(19): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531191 | AGAGCAGC others(878): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0020a0001c0007t0003 | a0001c0001t0003g0063a0001c0001t0003g0068a0001c0001t0003g0071others(4): Show | 7 | 246 | 0.0285 | -885 | c.298 others(17): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531191 | AGAGCAGC others(878): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0014a0001c0003t0004g0056 | 7 | 398 | 0.0176 | -885 | c.-31 others(11): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar |