| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(496): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0213 | 1 | 145 | 0.0069 | 503 | c.298 others(520): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1825143 | T | TTCACCTG others(496): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0058 | a0002c0058t0006 | a0002c0058t0006g0090 | 1 | 352 | 0.0028 | 503 | c.-48 others(520): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | |||||||
| ATP10B_chr5_160558120_160857211 | 160653897 | A | ATATACGT others(496): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0039 | a0001c0001t0001g0159 a0001c0002t0039g0119 |
2 | 34 | 0.0588 | 503 | c.676 others(520): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
| C2orf16_chr2_27532386_27587722 | 27539791 | G | GTCCTCAC others(496): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19240.hp1 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0286 a0013c0017t0001g0287 |
2 | 215 | 0.0093 | 503 | c.144 others(520): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(496): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 235 | 0.0043 | 503 | c.-22 others(514): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
| CFAP61_chr20_20047532_20365698 | 20356977 | T | TGTGAGTG others(496): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01975.hp1 HG02451.hp2 others(3): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0024others(2): Show | a0001c0001t0003a0001c0003t0003a0001c0024t0008others(2): Show | a0001c0001t0003g0060 a0001c0001t0003g0095 a0001c0003t0003g0175 others(3): Show |
6 | 99 | 0.0606 | 503 | c.351 others(522): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20356977 | T | TGTGAGTG others(496): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 |
a0005a0010 | a0005c0008a0010c0020 | a0005c0008t0002a0010c0020t0002 | a0005c0008t0002g0166 a0010c0020t0002g0123 |
2 | 95 | 0.0211 | 503 | c.351 others(522): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(496): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 92 | 0.0109 | 503 | c.80- others(518): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130591233 | T | TCTGCCCA others(496): Show |
intron_variant | MODIFIER | HG01884.hp1 HG04204.hp1 NA19004.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 a0001c0002t0001g0104 a0001c0002t0001g0105 |
3 | 289 | 0.0104 | 503 | c.737 others(522): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | |||||||
| DCLK2_chr4_150073445_150262438 | 150250932 | C | CTCCCCAC others(496): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 113 | 0.0088 | 503 | c.207 others(522): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(496): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 279 | 0.0036 | 503 | c.-42 others(514): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
| DIDO1_chr20_62872743_62931505 | 62875284 | C | CCACCCCC others(496): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0226 | 1 | 243 | 0.0041 | 503 | c.*39 others(514): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2458 | chr20 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 894845 | G | GCTGGCAG others(496): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 3 | 0.3333 | 503 | c.19- others(520): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| EBF2_chr8_25836725_26050413 | 26005460 | T | TAATTATA others(496): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0152 | 1 | 218 | 0.0046 | 503 | c.551 others(522): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
| FAM120B_chr6_170301758_170412067 | 170399329 | A | AAAGGTAG others(496): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 287 | 0.0035 | 503 | c.269 others(522): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152182738 | C | CACTATAT others(496): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 55 | 0.0182 | 503 | c.114 others(522): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
| GALR1_chr18_77244848_77282900 | 77252881 | T | TCATCACC others(496): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 326 | 0.0031 | 503 | c.666 others(520): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| GPATCH2_chr1_217421992_217636090 | 217524869 | G | GGGAGAGG others(496): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 128 | 0.0078 | 503 | c.109 others(522): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
| GPR173_chrX_53043789_53085615 | 53073903 | A | ATATATAT others(496): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0202 | 1 | 133 | 0.0075 | 503 | c.-97 others(520): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53073903 | A | ATATATAT others(496): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0059 | 1 | 133 | 0.0075 | 503 | c.-97 others(520): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GSE1_chr16_85608322_85681200 | 85653214 | T | TCCTCCTC others(496): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0257 | 1 | 175 | 0.0057 | 503 | c.427 others(520): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| HRH3_chr20_62209960_62225278 | 62212969 | G | GAAGGAGA others(496): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01496.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 3 | 361 | 0.0083 | 503 | c.*30 others(514): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1990 | chr20 | TogoVar | |||||||
| IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(496): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0148 | 1 | 233 | 0.0043 | 503 | c.127 others(522): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
| IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(496): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 11 | 0.0909 | 503 | c.10- others(520): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132172990 | T | TCCCTCTC others(496): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0024 | a0004c0024t0002 | a0004c0024t0002g0153 | 1 | 71 | 0.0141 | 503 | c.*11 others(524): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LRRC14_chr8_144512992_144530172 | 144513800 | T | TGAGGAGG others(496): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0004 | 1 | 220 | 0.0045 | 503 | c.-43 others(514): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4191 | chr8 | TogoVar | |||||||
| LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(496): Show |
upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 234 | 0.0043 | 503 | c.-42 others(514): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
| LUZP2_chr11_24492053_25087638 | 24774678 | A | ATATTCTA others(496): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0007 | a0002c0007t0028 | a0002c0007t0028g0068 | 1 | 104 | 0.0096 | 503 | c.396 others(522): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 5/11 | chr11 | TogoVar | |||||||
| MFSD3_chr8_144504070_144516213 | 144513800 | T | TGAGGAGG others(496): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0009g0001 |
2 | 211 | 0.0095 | 503 | c.*26 others(514): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2588 | chr8 | TogoVar | |||||||
| MSLN_chr16_755734_773862 | 767629 | A | AGGGGCGC others(496): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 357 | 0.0028 | 503 | c.159 others(520): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767939 | T | TCGCGTGG others(496): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 283 | 0.0035 | 503 | c.159 others(520): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64174587 | T | TAGCATCT others(496): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0108 | 1 | 156 | 0.0064 | 503 | c.-99 others(520): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(496): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 261 | 0.0038 | 503 | c.91+ others(516): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(496): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18969.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0254 a0001c0001t0001g0289 |
3 | 141 | 0.0213 | 503 | c.141 others(520): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136528463 | T | TGAGGGGG others(496): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0053 | a0001c0053t0004 | a0001c0053t0004g0133 | 1 | 322 | 0.0031 | 503 | c.141 others(520): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(496): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 30 | 0.0333 | 503 | c.433 others(520): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841443 | T | TCCTCCCG others(496): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 165 | 0.0061 | 503 | c.361 others(522): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841445 | C | CTCCCTGA others(496): Show |
intron_variant | MODIFIER | NA18973.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0122 |
2 | 161 | 0.0124 | 503 | c.361 others(522): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| OTOF_chr2_26452203_26563756 | 26476536 | C | CCCTTCCC others(496): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0215 | 1 | 269 | 0.0037 | 503 | c.267 others(520): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 22/46 | chr2 | TogoVar | |||||||
| PCSK6_chr15_101298933_101494707 | 101311736 | C | CCCCTCAC others(496): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02040.hp2 HG02071.hp1 others(3): Show |
a0001a0004a0007 | a0001c0002a0001c0011a0001c0013others(2): Show | a0001c0002t0001a0001c0011t0001a0001c0013t0001others(2): Show | a0001c0002t0001g0302 a0001c0011t0001g0233 a0001c0013t0001g0138 others(3): Show |
6 | 232 | 0.0259 | 503 | c.269 others(522): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
| PFKP_chr10_3062548_3141802 | 3085316 | T | TCCAGCAC others(496): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0349 | 1 | 275 | 0.0036 | 503 | c.186 others(520): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PRKCB_chr16_23830983_24225611 | 24109274 | C | CGGGCGGG others(496): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0010a0001c0001t0040a0001c0001t0041others(6): Show | a0001c0001t0010g0053 a0001c0001t0040g0018 a0001c0001t0041g0097 others(6): Show |
9 | 15 | 0.6000 | 503 | c.822 others(520): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2123797 | G | GTCATGGT others(496): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0274 | 1 | 163 | 0.0061 | 503 | c.335 others(522): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(496): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0095 | 1 | 2 | 0.5000 | 503 | c.438 others(520): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
| RECQL4_chr8_144506288_144522833 | 144513800 | T | TGAGGAGG others(496): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0023 | a0023c0049 | a0023c0049t0001 | a0023c0049t0001g0149 | 1 | 221 | 0.0045 | 503 | c.205 others(518): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 12/20 | chr8 | TogoVar | |||||||
| REPS2_chrX_16941658_17158272 | 17050141 | C | CCTTCCTT others(496): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 50 | 0.0200 | 503 | c.908 others(520): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 340628 | C | CCAGGCCT others(496): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01496.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0002 |
2 | 99 | 0.0202 | 503 | c.-21 others(522): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 340698 | G | GCCCAGGC others(496): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02074.hp2 HG02135.hp2 others(2): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0005a0001c0001t0037a0001c0004t0001others(2): Show | a0001c0001t0005g0100 a0001c0001t0037g0058 a0001c0004t0001g0046 others(2): Show |
5 | 27 | 0.1852 | 503 | c.-21 others(522): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 340698 | G | GCCCAGGC others(496): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 23 | 0.0435 | 503 | c.-21 others(522): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 356244 | C | CACTTACT others(496): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0065 a0001c0001t0009g0066 |
2 | 82 | 0.0244 | 503 | c.-37 others(514): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3438 | chr17 | TogoVar |