| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RBFOX3_chr17_79084345_79616051 | 79554464 | C | CACCTGGC others(696): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0006 | 1 | 154 | 0.0065 | 703 | c.-32 others(724): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
| RFX2_chr19_5988164_6115500 | 6070231 | G | GATGGGAT others(696): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 308 | 0.0033 | 703 | c.-8- others(720): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | ||||||
| RFX2_chr19_5988164_6115500 | 6070231 | G | GATGGGAT others(696): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02896.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0001g0244others(7): Show | 10 | 308 | 0.0325 | 703 | c.-8- others(720): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(696): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0051 | 1 | 203 | 0.0049 | 703 | c.167 others(718): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(696): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 203 | 0.0049 | 703 | c.167 others(718): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(696): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0185 | 1 | 203 | 0.0049 | 703 | c.167 others(718): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(696): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 290 | 0.0035 | 703 | c.464 others(716): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SGK3_chr8_66707781_66867022 | 66772140 | G | GGCTGGAG others(696): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0025 | 1 | 142 | 0.0070 | 703 | c.-12 others(724): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(696): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0211 | 1 | 350 | 0.0029 | 703 | c.624 others(718): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642200 | G | GGGGGGCC others(696): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 422 | 0.0024 | 703 | c.*65 others(714): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4414 | chr20 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1627875 | A | ACGGGGTG others(696): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0061 | 1 | 352 | 0.0028 | 703 | c.299 others(718): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(696): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0014 | a0002c0014t0003 | a0002c0014t0003g0052 | 1 | 128 | 0.0078 | 703 | c.143 others(724): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TNFRSF18_chr1_1198508_1211592 | 1202516 | G | GAGCCCAG others(696): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01516.hp2 HG01517.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0003a0001c0005t0002g0007a0001c0005t0002g0023 | 6 | 386 | 0.0155 | 703 | c.*13 others(714): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 991 | chr1 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930831 | C | CAGGGGTT others(696): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 466 | 0.0022 | 703 | c.*47 others(714): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4538 | chr11 | TogoVar | ||||||
| TTLL10_chr1_1168880_1202936 | 1202516 | G | GAGCCCAG others(696): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01516.hp2 HG01517.hp2 others(3): Show |
a0001a0002a0006 | a0001c0002a0002c0001a0006c0020 | a0001c0002t0001a0002c0001t0002a0006c0020t0004 | a0001c0002t0001g0036a0002c0001t0002g0210a0002c0001t0002g0211others(2): Show | 6 | 382 | 0.0157 | 703 | c.*46 others(714): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4581 | chr1 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50028931 | C | CCCACACA others(696): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 224 | 0.0045 | 703 | c.225 others(722): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50029061 | A | ACCCACAC others(696): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 224 | 0.0045 | 703 | c.225 others(722): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| TUBGCP5_chr15_22994177_23044569 | 23040672 | C | CTGGCCAG others(696): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 351 | 0.0029 | 703 | c.-11 others(714): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1104 | chr15 | TogoVar | ||||||
| TXNDC16_chr14_52425596_52557505 | 52530454 | A | ATCATTAT others(696): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 238 | 0.0042 | 703 | c.392 others(720): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
| TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(696): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 238 | 0.0042 | 703 | c.392 others(720): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917239 | C | CGGAGGCT others(696): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0033 | a0002c0033t0002 | a0002c0033t0002g0218 | 1 | 344 | 0.0029 | 703 | c.218 others(720): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ADAMTS3_chr4_72275969_72574221 | 72456246 | A | ATATAGTA others(697): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172a0001c0001t0001g0176 | 2 | 182 | 0.0110 | 704 | c.505 others(723): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
| ADAP1_chr7_892900_959680 | 905365 | G | GAGAAAGG others(697): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 14 | 0.0714 | 704 | c.389 others(719): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(697): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0021 | 1 | 462 | 0.0022 | 704 | c.564 others(719): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
| AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(697): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0326 | 1 | 462 | 0.0022 | 704 | c.564 others(719): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25758781 | A | ACTCATTC others(697): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0052 | a0052c0038 | a0052c0038t0001 | a0052c0038t0001g0251 | 1 | 300 | 0.0033 | 704 | c.654 others(723): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1423667 | A | AGCCTCCC others(697): Show |
intron_variant | MODIFIER | HG01361.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175a0001c0001t0004g0179 | 2 | 360 | 0.0056 | 704 | c.92- others(721): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| C11orf24_chr11_68256338_68276973 | 68264684 | C | CTATCCAT others(697): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 400 | 0.0025 | 704 | c.-99 others(719): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
| C20orf96_chr20_265863_295750 | 279033 | C | CGGGACGG others(697): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 410 | 0.0024 | 704 | c.465 others(719): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
| CCDC141_chr2_178824757_179055137 | 178903090 | T | TAAAAAGT others(697): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01952.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0003c0004t0004 | a0001c0001t0005g0009a0003c0004t0004g0019a0003c0004t0004g0020others(2): Show | 5 | 274 | 0.0183 | 704 | c.126 others(723): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 8/23 | chr2 | TogoVar | ||||||
| CCDC141_chr2_178824757_179055137 | 178903090 | T | TAAAAAGT others(697): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01884.hp1 HG02015.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0018others(6): Show | a0001c0001t0003g0013a0001c0001t0003g0067a0001c0001t0003g0129others(12): Show | 15 | 274 | 0.0547 | 704 | c.126 others(723): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 8/23 | chr2 | TogoVar | ||||||
| CCDC141_chr2_178824757_179055137 | 178903090 | T | TAAAAAGT others(697): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0270 | 1 | 274 | 0.0037 | 704 | c.126 others(723): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 8/23 | chr2 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(697): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG02723.hp2 NA21309.hp1 |
a0002a0005a0007 | a0002c0012a0005c0045a0007c0008 | a0002c0012t0092a0005c0045t0017a0007c0008t0007 | a0002c0012t0092g0320a0005c0045t0017g0243a0007c0008t0007g0124 | 3 | 334 | 0.0090 | 704 | c.-25 others(715): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(697): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0254 | 1 | 334 | 0.0030 | 704 | c.-25 others(715): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(697): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0010 | a0010c0015 | a0010c0015t0010 | a0010c0015t0010g0123 | 1 | 334 | 0.0030 | 704 | c.-25 others(715): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(697): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 168 | 0.0060 | 704 | c.-26 others(713): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(697): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 168 | 0.0060 | 704 | c.-26 others(713): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGGGAGG others(697): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 168 | 0.0060 | 704 | c.-26 others(713): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(697): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18906.hp2 NA18948.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0052a0001c0001t0001g0246a0001c0001t0016g0245 | 4 | 448 | 0.0089 | 704 | c.51+ others(719): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| COMMD9_chr11_36267292_36294424 | 36287054 | A | ACTACATA others(697): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0150 | 1 | 448 | 0.0022 | 704 | c.51+ others(719): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| CPNE7_chr16_89570758_89602246 | 89588069 | C | CGTGTCAC others(697): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0303 | 1 | 348 | 0.0029 | 704 | c.928 others(719): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | chr16 | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1198345 | C | CAGGACAC others(697): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0099 | 1 | 167 | 0.0060 | 704 | c.646 others(719): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
| DCDC2C_chr2_3698575_3853008 | 3725439 | A | AAGACGAG others(697): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 324 | 0.0031 | 704 | c.340 others(721): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DCDC2C_chr2_3698575_3853008 | 3725511 | C | CGGTGGAT others(697): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0237 | 1 | 324 | 0.0031 | 704 | c.340 others(721): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(697): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0192 | 1 | 216 | 0.0046 | 704 | c.923 others(723): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132149309 | G | GCTCACAC others(697): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0029 | 1 | 334 | 0.0030 | 704 | c.-50 others(715): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4991 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132149309 | G | GCTCACAC others(697): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0029 | 1 | 334 | 0.0030 | 704 | c.-50 others(715): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4991 | chr12 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713563 | C | CCTCACTT others(697): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 412 | 0.0024 | 704 | c.*36 others(715): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1003 | chr19 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713645 | C | CCCATCCC others(697): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 704 | c.*35 others(715): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 921 | chr19 | TogoVar | ||||||
| DYSF_chr2_71448561_71691763 | 71618390 | T | TGTGTGTG others(697): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02165.hp1 |
a0001a0024 | a0001c0019a0024c0029 | a0001c0019t0002a0024c0029t0001 | a0001c0019t0002g0165a0024c0029t0001g0104 | 2 | 192 | 0.0104 | 704 | c.441 others(723): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |