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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF38_chr4_105547620_105685914 | 105656685 | ATTATAGG others(5274): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02004.hp1 | a0007 | a0007c0019 | a0007c0019t0005 | a0007c0019t0005g0005 | 1 | 186 | 0.0054 | -5281 | c.123 others(18): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34199214 | TGATGGTG others(5273): Show |
T | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 246 | 0.0041 | -5280 | c.103 others(17): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 2/16 | chr11 | TogoVar | |||||||
CDH13_chr16_82621969_83805640 | 82654390 | AGCATATA others(5271): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0011 | a0001c0011t0035 | a0001c0011t0035g0074 | 1 | 110 | 0.0091 | -5278 | c.45+ others(17): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18751453 | GGTGAACA others(5271): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0005 | a0005c0012 | a0005c0012t0010 | a0005c0012t0010g0187 | 1 | 228 | 0.0044 | -5278 | c.217 others(20): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39582393 | GGTGGCTT others(5270): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0304 | 1 | 344 | 0.0029 | -5277 | c.76- others(16): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SLC22A2_chr6_160211755_160263821 | 160228650 | TTGTCAGG others(5268): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 HG02970.hp2 others(4): Show |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0003 | 7 | 310 | 0.0226 | -5275 | c.150 others(19): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20559129 | TGTTCCAG others(5264): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0008 | 1 | 230 | 0.0044 | -5271 | c.272 others(19): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRADD_chr12_93672375_93855756 | 93803646 | ACTTCCAG others(5261): Show |
A | intron_variant | MODIFIER | NA18981.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0238 a0001c0001t0003g0007 |
2 | 248 | 0.0081 | -5268 | c.299 others(19): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3CA_chr3_179143357_179245093 | 179160828 | TAGACTCT others(5259): Show |
T | intron_variant | MODIFIER | NA18999.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0194 a0001c0001t0013g0193 |
2 | 282 | 0.0071 | -5266 | c.-77 others(19): Show |
PIK3CA | ENSG00000121879.6 | transcript | ENST00000263967.4 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
KRTAP9-6_chr17_41260378_41270860 | 41265595 | CCAGCTGC others(5258): Show |
C | frameshift_variant others(2): Show |
HIGH | HG01261.hp2 | a0000 | a0000c0009 | a0000c0009t0000 | a0000c0009t0000g0000 | 1 | 248 | 0.0040 | -5265 | c.219 others(9): Show |
p.Thr others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 219/483 | 219/483 | 73/160 | chr17 | TogoVar | |||
SCD5_chr4_82624539_82803796 | 82714853 | CTGAACCC others(5255): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02055.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011 | a0001c0001t0002g0059 a0001c0001t0002g0097 a0001c0001t0003g0078 others(1): Show |
4 | 210 | 0.0191 | -5262 | c.233 others(18): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
CGB3_chr19_49017869_49029333 | 49024080 | CTCGGGGG others(5246): Show |
C | 5_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0049 | 1 | 391 | 0.0026 | -5253 | c.-53 others(10): Show |
CGB3 | ENSG00000104827.12 | transcript | ENST00000357383.4 | protein_coding | 1/3 | 110 | chr19 | TogoVar | ||||||
GOLGA8B_chr15_34520095_34588651 | 34556034 | CCCCACGC others(5243): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00735.hp2 others(22): Show |
a0003a0005a0006others(5): Show | a0003c0003a0005c0007a0006c0006others(5): Show | a0003c0003t0003a0003c0003t0019a0003c0003t0020others(9): Show | a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0074 others(21): Show |
25 | 198 | 0.1263 | -5250 | c.-11 others(21): Show |
GOLGA8B | ENSG00000215252.12 | transcript | ENST00000683415.1 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
INO80D_chr2_205988721_206091174 | 206065220 | CAGCACTT others(5243): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0008 | 1 | 334 | 0.0030 | -5250 | c.-12 others(19): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
OR13C2_chr9_104599671_104610627 | 104605385 | CGTGGAGG others(5235): Show |
C | frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0010 | a0010c0016 | a0010c0016t0000 | a0010c0016t0000g0000 | 1 | 412 | 0.0024 | -5242 | c.-50 others(9): Show |
p.Met others(3): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 242/957 | 1/957 | 1/318 | chr9 | TogoVar | |||
FFAR3_chr19_35353460_35365489 | 35360248 | GGGTCTGA others(5234): Show |
G | splice_region_variant | LOW | HG00323.hp2 HG00597.hp1 HG00597.hp2 others(27): Show |
a0001a0005a0014 | a0001c0001a0001c0021a0005c0006others(1): Show | a0001c0001t0005a0001c0021t0005a0005c0006t0005others(1): Show | a0001c0001t0005g0001 a0001c0021t0005g0001 a0005c0006t0005g0001 others(1): Show |
30 | 415 | 0.0723 | -5241 | c.*31 others(10): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130070052 | ACAGAAAA others(5233): Show |
A | intron_variant | MODIFIER | NA19054.hp2 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0066 | 1 | 276 | 0.0036 | -5240 | c.108 others(23): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203034348 | AGGGTTTC others(5228): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0019a0001c0004t0005others(1): Show | a0001c0001t0005g0277 a0001c0001t0005g0283 a0001c0001t0019g0279 others(10): Show |
13 | 292 | 0.0445 | -5235 | c.52- others(15): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PCDHB10_chr5_141187353_141200647 | 141187378 | CTGGGGAG others(5227): Show |
C | frameshift_variant others(1): Show |
HIGH | NA19088.hp1 | a0032 | a0032c0054 | a0032c0054t0011 | a0032c0054t0011g0000 | 1 | 456 | 0.0022 | -5234 | c.-51 others(8): Show |
p.Met others(3): Show |
PCDHB10 | ENSG00000120324.9 | transcript | ENST00000239446.6 | protein_coding | 1/1 | 1/2403 | 1/800 | chr5 | TogoVar | ||||
PCDHB10_chr5_141187353_141200647 | 141188559 | AAGCTGAG others(5227): Show |
A | frameshift_variant others(1): Show |
HIGH | HG03098.hp2 | a0033 | a0033c0023 | a0033c0023t0010 | a0033c0023t0010g0000 | 1 | 456 | 0.0022 | -5234 | c.-39 others(10): Show |
p.Met others(3): Show |
PCDHB10 | ENSG00000120324.9 | transcript | ENST00000239446.6 | protein_coding | 1/1 | 1/2403 | 1/800 | chr5 | TogoVar | ||||
PCDHB9_chr5_141182161_141196541 | 141187378 | CTGGGGAG others(5227): Show |
C | frameshift_variant others(4): Show |
HIGH | NA19088.hp1 | a0000 | a0000c0024 | a0000c0024t0028 | a0000c0024t0028g0000 | 1 | 458 | 0.0022 | -5234 | c.61_ others(8): Show |
p.Trp others(4): Show |
PCDHB9 | ENSG00000177839.7 | transcript | ENST00000316105.7 | protein_coding | 1/1 | 219/4381 | 61/2394 | 21/797 | chr5 | TogoVar | |||
PCDHB9_chr5_141182161_141196541 | 141188559 | AAGCTGAG others(5227): Show |
A | stop_lost others(4): Show |
HIGH | HG03098.hp1 | a0000 | a0000c0032 | a0000c0032t0028 | a0000c0032t0028g0000 | 1 | 458 | 0.0022 | -5234 | c.124 others(10): Show |
p.Lys others(19): Show |
PCDHB9 | ENSG00000177839.7 | transcript | ENST00000316105.7 | protein_coding | 1/1 | 1400/4381 | 1242/2394 | 414/797 | chr5 | TogoVar | |||
CTAG1B_chrX_154612609_154624282 | 154619050 | CCGGCCCC others(5225): Show |
C | frameshift_variant others(1): Show |
HIGH | HG02896.hp1 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0032 | 1 | 254 | 0.0039 | -5232 | c.-50 others(9): Show |
p.Met others(3): Show |
CTAG1B | ENSG00000184033.14 | transcript | ENST00000328435.3 | protein_coding | 1/3 | 232/759 | 1/543 | 1/180 | chrX | TogoVar | |||
ROCK2_chr2_11174759_11349636 | 11255062 | AAAAAATT others(5224): Show |
A | intron_variant | MODIFIER | HG03471.hp2 HG06807.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0026a0001c0001t0053a0001c0015t0073 | a0001c0001t0026g0272 a0001c0001t0026g0273 a0001c0001t0053g0271 others(1): Show |
4 | 320 | 0.0125 | -5231 | c.325 others(18): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72793846 | GGAGTGTA others(5215): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 NA18522.hp1 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0001c0001t0003a0004c0009t0006 | a0001c0001t0002g0023 a0001c0001t0003g0029 a0004c0009t0006g0151 |
3 | 180 | 0.0167 | -5222 | c.601 others(19): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3685214 | TCGCTAGC others(5214): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0065 a0002c0002t0001g0124 a0002c0002t0002g0001 others(12): Show |
19 | 274 | 0.0693 | -5221 | c.511 others(17): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF14_chr19_19705472_19738112 | 19723634 | ATTGGAAT others(5212): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(100): Show |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0171 a0001c0001t0002g0001 a0001c0001t0002g0006 others(43): Show |
103 | 398 | 0.2588 | -5219 | c.3+4 others(13): Show |
ZNF14 | ENSG00000105708.9 | transcript | ENST00000344099.4 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
TMLHE_chrX_155484011_155617952 | 155569094 | TTAGATGA others(5204): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02615.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0107 others(9): Show |
12 | 216 | 0.0556 | -5211 | c.-1- others(17): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
TSTD3_chr6_99516049_99538185 | 99519472 | TATTATTC others(5199): Show |
T | splice_donor_variant others(4): Show |
HIGH | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0045 | 1 | 436 | 0.0023 | -5206 | c.-16 others(14): Show |
TSTD3 | ENSG00000279170.3 | transcript | ENST00000452647.3 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
CELA3B_chr1_21972022_21994354 | 21989153 | TCCTCTCC others(5194): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG01517.hp1 | a0000 | a0000c0018 | a0000c0018t0002 | a0000c0018t0002g0173 | 1 | 444 | 0.0023 | -5201 | c.796 others(13): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR13C5_chr9_104593457_104604413 | 104599221 | TCCCCAGA others(5185): Show |
T | start_lost others(1): Show |
HIGH | NA18956.hp1 | a0014 | a0014c0014 | a0014c0014t0000 | a0014c0014t0000g0000 | 1 | 424 | 0.0024 | -5192 | c.-50 others(9): Show |
p.Met others(10): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 192/957 | 1/957 | 1/318 | chr9 | TogoVar | |||
PCCB_chr3_136245340_136335169 | 136302171 | CTCCTGCA others(5178): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(106): Show |
a0001a0003a0007 | a0001c0001a0001c0009a0003c0004others(1): Show | a0001c0001t0001a0001c0009t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(104): Show |
109 | 300 | 0.3633 | -5185 | c.966 others(17): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
LRRFIP1_chr2_237622587_237786643 | 237645367 | TCACTGCC others(5176): Show |
T | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 276 | 0.0036 | -5183 | c.96+ others(17): Show |
LRRFIP1 | ENSG00000124831.20 | transcript | ENST00000308482.14 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RSPO2_chr8_107894316_108088620 | 108058596 | CATACTAC others(5174): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02809.hp2 NA18522.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0005a0003c0003t0023 | a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0005g0236 others(1): Show |
4 | 240 | 0.0167 | -5181 | c.94+ others(17): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ZNF438_chr10_30839632_31036865 | 30910469 | AGATACAG others(5164): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0190 | 1 | 316 | 0.0032 | -5171 | c.-11 others(19): Show |
ZNF438 | ENSG00000183621.15 | transcript | ENST00000436087.7 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19905655 | CATGGCTC others(5159): Show |
C | frameshift_variant others(3): Show |
HIGH | HG03831.hp2 | a0025 | a0025c0037 | a0025c0037t0001 | a0025c0037t0001g0136 | 1 | 344 | 0.0029 | -5166 | c.128 others(14): Show |
p.Glu others(5): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 6/13 | 1581/2860 | 1289/2502 | 430/833 | chr3 | TogoVar | |||
CLCC1_chr1_108924505_108968484 | 108953847 | CTAAAAAT others(5157): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03579.hp2 NA19043.hp1 |
a0002 | a0002c0003 | a0002c0003t0024a0002c0003t0028 | a0002c0003t0024g0036 a0002c0003t0028g0216 |
3 | 394 | 0.0076 | -5164 | c.-12 others(17): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
TCERG1L_chr10_131087391_131316721 | 131300757 | GTTTGTGT others(5153): Show |
G | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010 | a0001c0001t0001g0097 a0001c0001t0004g0098 a0001c0001t0010g0096 |
3 | 324 | 0.0093 | -5160 | c.670 others(17): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245233785 | GATCATGC others(5144): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0055 | a0001c0055t0027 | a0001c0055t0027g0080 | 1 | 160 | 0.0063 | -5151 | c.465 others(19): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 2/14 | chr1 | TogoVar | |||||||
OR6B2_chr2_240024491_240035429 | 240030287 | ATGAGGAT others(5135): Show |
A | frameshift_variant others(1): Show |
HIGH | NA19001.hp1 | a0019 | a0019c0025 | a0019c0025t0000 | a0019c0025t0000g0000 | 1 | 464 | 0.0022 | -5142 | c.-50 others(9): Show |
p.Met others(3): Show |
OR6B2 | ENSG00000182083.8 | transcript | ENST00000319423.5 | protein_coding | 1/1 | 142/939 | 1/939 | 1/312 | chr2 | TogoVar | |||
PTPRO_chr12_15317508_15603331 | 15415549 | TAATTTTT others(5131): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0002t0007a0001c0002t0011others(2): Show | a0001c0002t0004g0034 a0001c0002t0007g0080 a0001c0002t0011g0082 others(3): Show |
6 | 164 | 0.0366 | -5138 | c.76- others(17): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RGPD3_chr2_106398406_106473413 | 106405274 | ATTTCTCA others(5129): Show |
A | intron_variant | MODIFIER | NA18980.hp1 | a0000 | a0000c0037 | a0000c0037t0035 | a0000c0037t0035g0053 | 1 | 382 | 0.0026 | -5136 | c.526 others(17): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 22/22 | chr2 | TogoVar | |||||||
TPSAB1_chr16_1235705_1247554 | 1240154 | CTGACAAA others(5123): Show |
C | transcript_ablation | HIGH | HG00544.hp2 HG02135.hp2 HG02155.hp2 others(10): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 13 | 290 | 0.0448 | -5130 | c.-57 others(10): Show |
p.0? | TPSAB1 | ENSG00000172236.19 | transcript | ENST00000338844.8 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
NCMAP_chr1_24551087_24614328 | 24569252 | CCAAAGTG others(5118): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02145.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0004others(1): Show | a0001c0001t0001g0028 a0001c0001t0008g0022 a0002c0002t0004g0023 others(10): Show |
13 | 402 | 0.0323 | -5125 | c.-8+ others(17): Show |
NCMAP | ENSG00000184454.7 | transcript | ENST00000374392.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VSTM1_chr19_54035825_54068897 | 54052271 | CCCTGTAG others(5110): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0196 others(52): Show |
72 | 441 | 0.1633 | -5117 | c.355 others(15): Show |
VSTM1 | ENSG00000189068.11 | transcript | ENST00000338372.7 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
LRRIQ1_chr12_85031351_85250105 | 85192952 | AATTATAT others(5107): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 228 | 0.0044 | -5114 | c.482 others(21): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRKD1_chr14_29571479_29932847 | 29746920 | ATTGACAT others(5089): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 156 | 0.0064 | -5096 | c.265 others(19): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
ZPBP_chr7_49932441_50098246 | 50004356 | GAACTCTC others(5089): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG02809.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 |
3 | 278 | 0.0108 | -5096 | c.783 others(18): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CELA3B_chr1_21972022_21994354 | 21989262 | ACCATAGC others(5085): Show |
A | stop_lost others(4): Show |
HIGH | HG01515.hp2 | a0000 | a0000c0019 | a0000c0019t0002 | a0000c0019t0002g0174 | 1 | 444 | 0.0023 | -5092 | c.799 others(9): Show |
p.Ile others(13): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 8/8 | 817/906 | 799/813 | 267/270 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
RBM25_chr14_73053534_73128899 | 73060133 | GGTTCAAG others(5084): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 a0001c0001t0008g0012 |
2 | 388 | 0.0052 | -5091 | c.-16 others(17): Show |
RBM25 | ENSG00000119707.14 | transcript | ENST00000261973.12 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |