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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | 290 | 0.0448 | -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 | a0022 | a0022c0044 | a0022c0044t0010 | a0022c0044t0010g0000 | 1 | 450 | 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 | a0018 | a0018c0019 | a0018c0019t0009 | a0018c0019t0009g0000 | 1 | 454 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 452 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 456 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 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 | a0001c0001t0026g0274 a0001c0001t0026g0275 a0001c0001t0053g0273 others(1): Show |
4 | 318 | 0.0126 | -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 | a0001c0001t0002g0022 a0001c0001t0003g0029 a0004c0009t0006g0151 |
3 | 178 | 0.0169 | -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 | a0002c0002t0001g0070 a0002c0002t0001g0109 a0002c0002t0002g0003 others(12): Show |
19 | 272 | 0.0699 | -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 | a0001c0001t0001g0131 a0001c0001t0002g0003 a0001c0001t0002g0007 others(43): Show |
103 | 396 | 0.2601 | -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 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0105 others(9): Show |
12 | 214 | 0.0561 | -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 | a0001c0001t0031g0037 | 1 | 434 | 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 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0044 | 1 | 441 | 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 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0000 | 1 | 422 | 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(105): Show |
a0001a0006a0007 | a0001c0001a0001c0009a0006c0006others(1): Show | a0001c0001t0001a0001c0009t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(103): Show |
108 | 298 | 0.3624 | -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 | 274 | 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 | 233 | 0.0172 | -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 | a0001c0004t0001g0192 | 1 | 314 | 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 | a0024 | a0024c0037 | a0024c0037t0001 | a0024c0037t0001g0140 | 1 | 342 | 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 | a0002c0003t0024g0045 a0002c0003t0028g0187 |
3 | 392 | 0.0077 | -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 | a0001c0001t0001g0096 a0001c0001t0004g0098 a0001c0001t0010g0097 |
3 | 322 | 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 | a0017 | a0017c0023 | a0017c0023t0001 | a0017c0023t0001g0000 | 1 | 462 | 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 | 162 | 0.0370 | -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 | a0037 | a0037c0037 | a0037c0037t0006 | a0037c0037t0006g0053 | 1 | 380 | 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 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 13 | 288 | 0.0451 | -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 | a0001c0001t0001a0001c0001t0007a0002c0002t0004others(1): Show | a0001c0001t0001g0029 a0001c0001t0007g0023 a0002c0002t0004g0024 others(10): Show |
13 | 400 | 0.0325 | -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 | a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0180 others(44): Show |
72 | 367 | 0.1962 | -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 | a0001c0001t0002g0134 | 1 | 226 | 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 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 |
3 | 276 | 0.0109 | -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 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0044 | 1 | 442 | 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 | a0001c0001t0008g0017 a0001c0001t0008g0018 |
2 | 386 | 0.0052 | -5091 | c.-16 others(17): Show |
RBM25 | ENSG00000119707.14 | transcript | ENST00000261973.12 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRRC8C_chr1_89628120_89724533 | 89703459 | TGAACCCA others(5075): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 a0001c0001t0002g0087 |
2 | 266 | 0.0075 | -5082 | c.139 others(17): Show |
LRRC8C | ENSG00000171488.15 | transcript | ENST00000370454.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71416273 | CAAATCTT others(5071): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp2 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(44): Show | a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0067 others(55): Show |
58 | 116 | 0.5000 | -5078 | c.115 others(19): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 7/17 | chr15 | TogoVar | |||||||
IMMP2L_chr7_110657644_111567492 | 110705267 | ACTGATAG others(5056): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 84 | 0.0119 | -5063 | c.409 others(19): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 85344899 | AGTAACAC others(5037): Show |
A | intron_variant | MODIFIER | HG03471.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0009 | a0001c0001t0002g0001 a0001c0002t0009g0002 |
2 | 14 | 0.1429 | -5044 | c.41- others(17): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277253 | GAGAAAGA others(5030): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02004.hp1 HG04204.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001 | a0002c0002t0002g0005 a0002c0002t0002g0013 a0002c0002t0002g0026 others(3): Show |
6 | 48 | 0.1250 | -5037 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1393083 | CATTGAGT others(5030): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG03492.hp1 |
a0001a0002 | a0001c0012a0002c0001 | a0001c0012t0004a0002c0001t0007 | a0001c0012t0004g0036 a0002c0001t0007g0038 |
2 | 40 | 0.0500 | -5037 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LMO7_chr13_75631330_75864866 | 75788944 | CTGGGCAA others(5023): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0096 | 1 | 270 | 0.0037 | -5030 | c.318 others(17): Show |
LMO7 | ENSG00000136153.20 | transcript | ENST00000377534.8 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51630373 | CGGCTGTC others(5021): Show |
C | 5_prime_UTR_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0222 | 1 | 412 | 0.0024 | -5028 | c.-50 others(9): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 1/9 | 39 | chr19 | TogoVar | ||||||
FOCAD_chr9_20679259_21000950 | 20799592 | CATTATGT others(5019): Show |
C | intron_variant | MODIFIER | NA18945.hp2 NA18969.hp2 NA18986.hp1 others(4): Show |
a0007a0014 | a0007c0007a0014c0019 | a0007c0007t0002a0014c0019t0002 | a0007c0007t0002g0158 a0007c0007t0002g0224 a0007c0007t0002g0226 others(4): Show |
7 | 318 | 0.0220 | -5026 | c.145 others(20): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF438_chr10_30839632_31036865 | 30957823 | CAGGGTTT others(5008): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(21): Show |
24 | 314 | 0.0764 | -5015 | c.-19 others(21): Show |
ZNF438 | ENSG00000183621.15 | transcript | ENST00000436087.7 | protein_coding | 2/6 | chr10 | TogoVar | |||||||
EGF_chr4_109907883_110018766 | 109919582 | AAGAGGAC others(4991): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02622.hp2 others(4): Show |
a0012a0013a0015 | a0012c0014a0013c0017a0015c0018 | a0012c0014t0007a0013c0017t0007a0015c0018t0017 | a0012c0014t0007g0135 a0012c0014t0007g0138 a0012c0014t0007g0139 others(4): Show |
7 | 386 | 0.0181 | -4998 | c.127 others(18): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105234557 | CCCCGTGG others(4989): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 70 | 0.0143 | -4996 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
ACER3_chr11_76855918_77031797 | 76961782 | AATGATGT others(4987): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02647.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0025a0002c0002t0099others(4): Show | a0002c0002t0020g0214 a0002c0002t0020g0215 a0002c0002t0020g0217 others(9): Show |
12 | 344 | 0.0349 | -4994 | c.267 others(17): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81643588 | GAGACCAG others(4987): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 266 | 0.0038 | -4994 | c.478 others(17): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1392886 | TCTGTTTT others(4985): Show |
T | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 40 | 0.0250 | -4992 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175361204 | TTTTATGG others(4985): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01169.hp2 others(2): Show |
a0001a0003a0004others(1): Show | a0001c0013a0003c0004a0004c0002others(1): Show | a0001c0013t0006a0003c0004t0032a0004c0002t0009others(2): Show | a0001c0013t0006g0021 a0003c0004t0032g0047 a0004c0002t0009g0006 others(2): Show |
5 | 64 | 0.0781 | -4992 | c.109 others(21): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1392819 | TTGGACTT others(4984): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01496.hp2 others(10): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0010others(4): Show | a0001c0002t0006a0001c0002t0009a0001c0002t0010others(9): Show | a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 others(10): Show |
13 | 40 | 0.3250 | -4991 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |