| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NRIP1_chr21_14956235_15070000 | 15031103 | C | CACATTCC others(939): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0207 | 1 | 166 | 0.0060 | 946 | c.-45 others(967): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
| RAB11FIP3_chr16_420649_528011 | 467960 | T | TGGGGCGT others(939): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0179 | 1 | 246 | 0.0041 | 946 | c.809 others(963): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136803045 | C | CGGATGGG others(939): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0233 | 1 | 327 | 0.0031 | 946 | c.-51 others(957): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4902 | chr9 | TogoVar | |||||||
| RABL6_chr9_136802948_136846187 | 136803079 | C | CGGGGGCC others(939): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 302 | 0.0033 | 946 | c.-51 others(957): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4868 | chr9 | TogoVar | |||||||
| RABL6_chr9_136802948_136846187 | 136803223 | C | CCCAGGGC others(939): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 295 | 0.0034 | 946 | c.-49 others(957): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4724 | chr9 | TogoVar | |||||||
| RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(939): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0038 | 1 | 253 | 0.0040 | 946 | c.66+ others(961): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SLC39A9_chr14_69393692_69467390 | 69411792 | T | TCAAGTTA others(939): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0029 | a0001c0001t0013g0024 a0001c0001t0029g0026 |
2 | 323 | 0.0062 | 946 | c.97- others(963): Show |
SLC39A9 | ENSG00000029364.12 | transcript | ENST00000336643.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
| TBCD_chr17_82747065_82950914 | 82764813 | C | CTGTGCTC others(939): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0315 | 1 | 268 | 0.0037 | 946 | c.333 others(961): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1629106 | G | GGGGGTGG others(939): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0070 | 1 | 299 | 0.0033 | 946 | c.299 others(963): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
| TERT_chr5_1248167_1300068 | 1272715 | A | ACACATCA others(939): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 371 | 0.0027 | 946 | c.228 others(963): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
| TEX29_chr13_111315642_111349248 | 111340777 | A | AATCATAA others(939): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01978.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 a0001c0002t0001g0099 |
2 | 411 | 0.0049 | 946 | c.239 others(961): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377496 | T | TCTGTGCC others(939): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0311 | 1 | 263 | 0.0038 | 946 | c.-15 others(957): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1471 | chr19 | TogoVar | |||||||
| TLCD5_chr11_120320299_120338686 | 120328762 | T | TTGTGTGT others(939): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 425 | 0.0024 | 946 | c.199 others(963): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAA others(939): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0044 | 1 | 58 | 0.0172 | 946 | c.143 others(967): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(939): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0127 | 1 | 241 | 0.0041 | 946 | c.728 others(963): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
| TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(939): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 241 | 0.0041 | 946 | c.728 others(963): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
| TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(939): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0326 | 1 | 241 | 0.0041 | 946 | c.728 others(963): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
| TP53AIP1_chr11_128930370_128947871 | 128930951 | G | GCTGGGGG others(939): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 422 | 0.0024 | 946 | c.*46 others(957): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4418 | chr11 | TogoVar | |||||||
| TRAPPC12_chr2_3374694_3484565 | 3438033 | C | CCCCCACC others(939): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 341 | 0.0029 | 946 | c.141 others(965): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| TUBB2B_chr6_3219277_3232653 | 3221982 | T | TCACCACC others(939): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 351 | 0.0028 | 946 | c.*27 others(957): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2294 | chr6 | TogoVar | |||||||
| TUBB2B_chr6_3219277_3232653 | 3221982 | T | TCACCACC others(939): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 4 | 354 | 0.0113 | 946 | c.*27 others(957): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2294 | chr6 | TogoVar | |||||||
| TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(939): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 35 | 0.0286 | 946 | c.*35 others(965): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(939): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 146 | 0.0068 | 946 | c.114 others(963): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
| WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(939): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0208 | 1 | 21 | 0.0476 | 946 | c.127 others(963): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(940): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0053 | a0001c0053t0012 | a0001c0053t0012g0072 | 1 | 12 | 0.0833 | 947 | c.387 others(966): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
| ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(940): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 159 | 0.0063 | 947 | c.505 others(966): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
| ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(940): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0182 | 1 | 159 | 0.0063 | 947 | c.505 others(966): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
| ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(940): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 30 | 0.0333 | 947 | c.505 others(966): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(940): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 145 | 0.0069 | 947 | c.298 others(964): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
| C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(940): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 235 | 0.0043 | 947 | c.-22 others(958): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
| CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(940): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0010 | 1 | 5 | 0.2000 | 947 | c.234 others(968): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(940): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19088.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0232 a0001c0003t0004g0233 |
2 | 5 | 0.4000 | 947 | c.712 others(964): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
| CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(940): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0003 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0149 others(8): Show |
11 | 80 | 0.1375 | 947 | c.*51 others(958): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
| CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(940): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 70 | 0.0143 | 947 | c.*51 others(958): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
| CNOT3_chr19_54132762_54160681 | 54133749 | T | TCTCTCCA others(940): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0046 | 1 | 216 | 0.0046 | 947 | c.-42 others(958): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 4012 | chr19 | TogoVar | |||||||
| DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(940): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0280 | 1 | 158 | 0.0063 | 947 | c.126 others(964): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(940): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03139.hp1 |
a0002a0003 | a0002c0008a0003c0010 | a0002c0008t0015a0003c0010t0008 | a0002c0008t0015g0121 a0003c0010t0008g0055 |
2 | 4 | 0.5000 | 947 | c.116 others(966): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(940): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 132 | 0.0076 | 947 | c.94- others(960): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(940): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 62 | 0.0161 | 947 | c.-21 others(958): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33323494 | A | ATATGGAA others(940): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 298 | 0.0034 | 947 | c.-15 others(958): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1475 | chr21 | TogoVar | |||||||
| KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(940): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0006 | a0001c0001t0008g0075 a0001c0004t0006g0019 a0001c0004t0006g0020 |
3 | 18 | 0.1667 | 947 | c.56- others(964): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
| LOC102725191_chr7_12499441_12546270 | 12528282 | A | ACTTTCCT others(940): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0093 a0003c0003t0004g0302 |
2 | 227 | 0.0088 | 947 | c.545 others(962): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| LOC102725191_chr7_12499441_12546270 | 12528282 | A | ACTTTCCT others(940): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02965.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0326 a0003c0003t0002g0053 a0003c0003t0002g0054 others(4): Show |
7 | 232 | 0.0302 | 947 | c.545 others(962): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| LOC102725191_chr7_12499441_12546270 | 12528282 | A | ACTTTCCT others(940): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG02015.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0002g0007 others(4): Show |
9 | 234 | 0.0385 | 947 | c.545 others(962): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(940): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 234 | 0.0043 | 947 | c.-42 others(958): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132359099 | C | CAGCGTAG others(940): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0006 | a0001c0006t0026 | a0001c0006t0026g0114 | 1 | 244 | 0.0041 | 947 | c.117 others(966): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(940): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 | 1 | 210 | 0.0048 | 947 | c.-5+ others(962): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
| PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(940): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0056 | a0056c0075 | a0056c0075t0001 | a0056c0075t0001g0245 | 1 | 24 | 0.0417 | 947 | c.371 others(964): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2123856 | G | GGTAGTTA others(940): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 178 | 0.0056 | 947 | c.335 others(966): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRPF31_chr19_54110754_54136713 | 54133749 | T | TCTCTCCA others(940): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 216 | 0.0046 | 947 | c.*23 others(958): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2037 | chr19 | TogoVar |