| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| REEP1_chr2_86208993_86342626 | 86275252 | T | TGCAGGCA others(313): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0025 | a0001c0001t0023g0019 a0001c0001t0025g0018 |
2 | 320 | 0.0063 | 320 | c.105 others(337): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(313): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0038 a0001c0001t0012g0069 |
2 | 318 | 0.0063 | 320 | c.*36 others(331): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
| RELB_chr19_44996464_45043192 | 45010313 | T | TCAAAAAG others(313): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 382 | 0.0026 | 320 | c.163 others(335): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| RELB_chr19_44996464_45043192 | 45010313 | T | TCAAAAAG others(313): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0021 others(60): Show |
63 | 382 | 0.1649 | 320 | c.163 others(335): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| RELB_chr19_44996464_45043192 | 45010313 | T | TCAAAAAG others(313): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0381 | 1 | 382 | 0.0026 | 320 | c.163 others(335): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| RELB_chr19_44996464_45043192 | 45010314 | C | CAAAAAGA others(313): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0213 |
2 | 382 | 0.0052 | 320 | c.163 others(335): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8386567 | A | AGAACTCT others(313): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0001 | a0001c0001t0001g0033 a0003c0008t0001g0006 |
2 | 204 | 0.0098 | 320 | c.128 others(341): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
| RERE_chr1_8347404_8822640 | 8502129 | T | TGCCCGGC others(313): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 204 | 0.0049 | 320 | c.880 others(337): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
| RETNLB_chr3_108750638_108762410 | 108759634 | C | CATACGTA others(313): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 452 | 0.0022 | 320 | c.-24 others(331): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2225 | chr3 | TogoVar | |||||||
| RGS12_chr4_3288021_3444913 | 3310263 | T | TCTGAGGG others(313): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0288 | 1 | 312 | 0.0032 | 320 | c.-10 others(339): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3310263 | T | TCTGAGGG others(313): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02895.hp1 HG02922.hp1 others(4): Show |
a0001a0002a0008 | a0001c0002a0001c0004a0002c0011others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0011t0004others(1): Show | a0001c0002t0001g0100 a0001c0002t0001g0145 a0001c0002t0001g0270 others(4): Show |
7 | 312 | 0.0224 | 320 | c.-10 others(339): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3310263 | T | TCTGAGGG others(313): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(110): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(17): Show | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 others(110): Show |
113 | 312 | 0.3622 | 320 | c.-10 others(339): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3310263 | T | TCTGAGGG others(313): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02027.hp1 HG02040.hp2 others(15): Show |
a0001a0004 | a0001c0009a0004c0008a0004c0019others(1): Show | a0001c0009t0001a0004c0008t0001a0004c0019t0001others(1): Show | a0001c0009t0001g0102 a0001c0009t0001g0103 a0001c0009t0001g0104 others(15): Show |
18 | 312 | 0.0577 | 320 | c.-10 others(339): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3310263 | T | TCTGAGGG others(313): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(84): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0001c0006others(16): Show | a0001c0002t0001a0001c0004t0001a0001c0006t0001others(16): Show | a0001c0002t0001g0003 a0001c0002t0001g0019 a0001c0002t0001g0020 others(83): Show |
87 | 312 | 0.2789 | 320 | c.-10 others(339): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RIMBP2_chr12_130391133_130721299 | 130604740 | G | GCCCGGCT others(313): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01978.hp2 |
a0001 | a0001c0002a0001c0005a0001c0006 | a0001c0002t0001a0001c0005t0009a0001c0006t0001 | a0001c0002t0001g0019 a0001c0005t0009g0157 a0001c0006t0001g0073 |
3 | 180 | 0.0167 | 320 | c.-21 others(341): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
| RIOK2_chr5_97155867_97188247 | 97180004 | T | TAATATAT others(313): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0210 | 1 | 410 | 0.0024 | 320 | c.67- others(333): Show |
RIOK2 | ENSG00000058729.11 | transcript | ENST00000283109.8 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
| RNF144B_chr6_18382350_18473870 | 18469917 | T | TAAAAATA others(313): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0048 a0001c0001t0016g0049 |
2 | 386 | 0.0052 | 320 | c.*48 others(331): Show |
RNF144B | ENSG00000137393.10 | transcript | ENST00000259939.4 | protein_coding | 1048 | chr6 | TogoVar | |||||||
| RNF150_chr4_140854807_141138469 | 141110579 | T | TTTAATTT others(313): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0151 | 1 | 184 | 0.0054 | 320 | c.484 others(339): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
| RNF152_chr18_61803067_61898007 | 61813512 | T | TGGGATTG others(313): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0220 | 1 | 310 | 0.0032 | 320 | c.*23 others(331): Show |
RNF152 | ENSG00000176641.11 | transcript | ENST00000312828.4 | protein_coding | 2/2 | 2339 | chr18 | TogoVar | ||||||
| RNF152_chr18_61803067_61898007 | 61897584 | T | TAAGAAAT others(313): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG03486.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0027a0001c0002t0028a0001c0002t0064 | a0001c0002t0027g0179 a0001c0002t0028g0301 a0001c0002t0064g0178 |
3 | 310 | 0.0097 | 320 | c.-49 others(331): Show |
RNF152 | ENSG00000176641.11 | transcript | ENST00000312828.4 | protein_coding | 4578 | chr18 | TogoVar | |||||||
| RNF220_chr1_44400255_44656723 | 44468135 | T | TAAAAAAA others(313): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 218 | 0.0046 | 320 | c.625 others(339): Show |
RNF220 | ENSG00000187147.19 | transcript | ENST00000361799.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ROBO1_chr3_78592239_79772998 | 78740282 | T | TAAAACAT others(313): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18906.hp2 |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0003 a0001c0007t0003g0032 |
2 | 44 | 0.0455 | 320 | c.657 others(337): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 5/30 | chr3 | TogoVar | |||||||
| ROCK2_chr2_11174759_11349636 | 11286234 | T | TTAAGCAG others(313): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 320 | 0.0031 | 320 | c.324 others(335): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
| RPA3_chr7_7631518_7723607 | 7718904 | T | TAAAGCTT others(313): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0058 a0001c0001t0005g0056 |
2 | 308 | 0.0065 | 320 | c.-14 others(331): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 298 | chr7 | TogoVar | |||||||
| RPS28_chr19_8316496_8328340 | 8325911 | C | CTGCCTCC others(313): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 404 | 0.0050 | 320 | c.*36 others(331): Show |
RPS28 | ENSG00000233927.5 | transcript | ENST00000600659.3 | protein_coding | 2572 | chr19 | TogoVar | |||||||
| RRM1_chr11_4089799_4143932 | 4096977 | T | TAAAAAGT others(313): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 a0001c0001t0003g0104 |
2 | 368 | 0.0054 | 320 | c.19+ others(335): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| RTN1_chr14_59590983_59875776 | 59659954 | T | TAAAGAGT others(313): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 172 | 0.0058 | 320 | c.176 others(341): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 3/8 | chr14 | TogoVar | |||||||
| RTP5_chr2_241864729_241878823 | 241877949 | T | TGCTCCCC others(313): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001 | 1 | 365 | 0.0027 | 320 | c.*46 others(331): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 4127 | chr2 | TogoVar | |||||||
| RTP5_chr2_241864729_241878823 | 241877949 | T | TGCTCCCC others(313): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0003 | a0003c0003t0024 | a0003c0003t0024g0042 | 1 | 365 | 0.0027 | 320 | c.*46 others(331): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 4127 | chr2 | TogoVar | |||||||
| RTP5_chr2_241864729_241878823 | 241877949 | T | TGCTCCCC others(313): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001 | 1 | 365 | 0.0027 | 320 | c.*46 others(331): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 4127 | chr2 | TogoVar | |||||||
| RUNDC3B_chr7_87623398_87837296 | 87781304 | T | TAGAAGTA others(313): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0030others(4): Show | a0001c0001t0008g0190 a0001c0001t0008g0191 a0001c0001t0008g0193 others(13): Show |
16 | 202 | 0.0792 | 320 | c.956 others(337): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SATL1_chrX_85087284_85248779 | 85135735 | G | GCTCGAGT others(313): Show |
intron_variant | MODIFIER | NA18950.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0035 |
2 | 232 | 0.0086 | 320 | c.-31 others(341): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
| SCAMP1_chr5_78355617_78485739 | 78358345 | T | TAAAAAAT others(313): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 332 | 0.0030 | 320 | c.-23 others(331): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2271 | chr5 | TogoVar | |||||||
| SCAMP2_chr15_74838730_74878365 | 74871314 | A | AGGCCCAG others(313): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0283 | 1 | 386 | 0.0026 | 320 | c.57+ others(335): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
| SCAND3_chr6_28565535_28592298 | 28569692 | T | TAAAACCA others(313): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 1 | 431 | 0.0023 | 320 | c.*22 others(331): Show |
SCAND3 | ENSG00000232040.4 | transcript | ENST00000452236.3 | protein_coding | 842 | chr6 | TogoVar | |||||||
| SCAPER_chr15_76342904_76910340 | 76807798 | T | TGGATATT others(313): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0013 | a0013c0021 | a0013c0021t0001 | a0013c0021t0001g0197 | 1 | 312 | 0.0032 | 320 | c.394 others(337): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 5/31 | chr15 | TogoVar | |||||||
| SCFD1_chr14_30617319_30740850 | 30712058 | T | TCTGGTTT others(313): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 328 | 0.0031 | 320 | c.163 others(339): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| SCHIP1_chr3_159268244_159902359 | 159709047 | T | TAAAGAAG others(313): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 100 | 0.0100 | 320 | c.64- others(337): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| SCN2A_chr2_165234414_165397304 | 165396343 | T | TCCATTAT others(313): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0265 | 1 | 358 | 0.0028 | 320 | c.*65 others(331): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 4040 | chr2 | TogoVar | |||||||
| SEC11A_chr15_84664544_84721139 | 84682297 | C | CTATGGCT others(313): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 320 | 0.0031 | 320 | c.312 others(337): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
| SEPTIN6_chrX_119611945_119698168 | 119647958 | T | TTAATTTT others(313): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01358.hp1 HG02080.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0240 a0001c0001t0002g0083 a0001c0001t0006g0026 others(1): Show |
4 | 252 | 0.0159 | 320 | c.690 others(337): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 5/10 | chrX | TogoVar | |||||||
| SF3A3_chr1_37951975_37995022 | 37967099 | T | TAGAAAAA others(313): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG00673.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0004g0308 a0001c0001t0004g0317 a0001c0001t0007g0201 others(7): Show |
10 | 400 | 0.0250 | 320 | c.137 others(337): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
| SF3A3_chr1_37951975_37995022 | 37967099 | T | TAGAAAAA others(313): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0013 a0001c0003t0010g0015 |
2 | 400 | 0.0050 | 320 | c.137 others(337): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
| SF3A3_chr1_37951975_37995022 | 37967099 | T | TAGAAAAA others(313): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0154 | 1 | 400 | 0.0025 | 320 | c.137 others(337): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
| SFTPB_chr2_85652314_85673199 | 85658040 | G | GCTATTTT others(313): Show |
3_prime_UTR_variant | MODIFIER | HG02004.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0011a0002c0006t0011 | a0001c0001t0011g0212 a0002c0006t0011g0058 |
2 | 426 | 0.0047 | 320 | c.*16 others(331): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 11/11 | 3432 | chr2 | TogoVar | ||||||
| SGCZ_chr8_14079845_15243431 | 14720553 | G | GTCATCTG others(313): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0007 | 1 | 102 | 0.0098 | 320 | c.40- others(339): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
| SGPL1_chr10_70810948_70886184 | 70845656 | T | TTACCTTC others(313): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0230 | 1 | 402 | 0.0025 | 320 | c.193 others(337): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| SH3GL2_chr9_17574066_17802124 | 17695783 | T | TAAAAATG others(313): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 260 | 0.0039 | 320 | c.46- others(337): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| SH3GL2_chr9_17574066_17802124 | 17781859 | T | TTCAGGTG others(313): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0172 | 1 | 260 | 0.0039 | 320 | c.188 others(337): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| SH3RF3_chr2_109124205_109509634 | 109235901 | A | AGCTCACT others(313): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0019 | a0001c0019t0004 | a0001c0019t0004g0059 | 1 | 172 | 0.0058 | 320 | c.573 others(341): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |