| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(811): Show |
intron_variant | MODIFIER | NA18962.hp2 NA19090.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0032 | a0001c0003t0001g0124a0001c0003t0032g0169 | 2 | 270 | 0.0074 | 818 | c.162 others(839): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(811): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0009 | 1 | 320 | 0.0031 | 818 | c.937 others(833): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(811): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0011 | 1 | 272 | 0.0037 | 818 | c.109 others(837): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CPNE4_chr3_131528569_132040014 | 131978292 | T | TTTATATA others(811): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 94 | 0.0106 | 818 | c.-2+ others(835): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946669 | T | TATATATA others(811): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 344 | 0.0029 | 818 | c.617 others(835): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946669 | T | TATATATA others(811): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325a0001c0001t0001g0326a0001c0001t0001g0327others(4): Show | 7 | 344 | 0.0204 | 818 | c.617 others(835): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946669 | T | TATATATA others(811): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 344 | 0.0029 | 818 | c.617 others(835): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(811): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0010 | 1 | 138 | 0.0073 | 818 | c.123 others(839): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(811): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG02738.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0051 | a0002c0003t0003g0013a0002c0003t0003g0059a0002c0003t0003g0072others(2): Show | 5 | 138 | 0.0362 | 818 | c.123 others(839): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(811): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017a0001c0001t0043 | a0001c0001t0013g0044a0001c0001t0013g0077a0001c0001t0017g0055others(1): Show | 4 | 138 | 0.0290 | 818 | c.123 others(839): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FLT3_chr13_27998274_28105576 | 27999113 | A | ATATGTAT others(811): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0015 | a0015c0023 | a0015c0023t0004 | a0015c0023t0004g0038 | 1 | 292 | 0.0034 | 818 | c.*49 others(829): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4160 | chr13 | TogoVar | ||||||
| GLT1D1_chr12_128848478_128989968 | 128866235 | A | ATTTTTTA others(811): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02451.hp1 |
a0003a0005 | a0003c0005a0005c0009 | a0003c0005t0004a0005c0009t0007 | a0003c0005t0004g0145a0005c0009t0007g0079 | 2 | 320 | 0.0063 | 818 | c.69- others(833): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(811): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 204 | 0.0049 | 818 | c.978 others(835): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KLK4_chr19_50901351_50916395 | 50914030 | C | CTCTCTCT others(811): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 414 | 0.0024 | 818 | c.-27 others(829): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 2636 | chr19 | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(811): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | 818 | c.-27 others(829): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
| LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(811): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0255 | 1 | 284 | 0.0035 | 818 | c.126 others(835): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(811): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 NA20129.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 2 | 422 | 0.0047 | 818 | c.-30 others(829): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(811): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0011 | 4 | 422 | 0.0095 | 818 | c.-30 others(829): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 187190 | G | GGAGGAAC others(811): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 350 | 0.0029 | 818 | c.*20 others(829): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1799 | chr16 | TogoVar | ||||||
| MANBA_chr4_102625770_102765968 | 102661985 | T | TAATACTA others(811): Show |
intron_variant | MODIFIER | NA18949.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038a0001c0001t0003g0207 | 2 | 280 | 0.0071 | 818 | c.148 others(837): Show |
MANBA | ENSG00000109323.11 | transcript | ENST00000647097.2 | protein_coding | 11/16 | chr4 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(811): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0010 | 1 | 318 | 0.0031 | 818 | c.-49 others(829): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(811): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 1 | 272 | 0.0037 | 818 | c.250 others(833): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(811): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 272 | 0.0037 | 818 | c.250 others(833): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(811): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 272 | 0.0037 | 818 | c.250 others(833): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(811): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 272 | 0.0037 | 818 | c.250 others(833): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79494477 | G | GGGAAGGC others(811): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0047 | a0002c0047t0022 | a0002c0047t0022g0229 | 1 | 322 | 0.0031 | 818 | c.278 others(837): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(811): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0298 | 1 | 360 | 0.0028 | 818 | c.*35 others(829): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | ||||||
| PEBP1_chr12_118131124_118150584 | 118133183 | T | TATATTTT others(811): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 426 | 0.0024 | 818 | c.-30 others(829): Show |
PEBP1 | ENSG00000089220.5 | transcript | ENST00000261313.3 | protein_coding | 2940 | chr12 | TogoVar | ||||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(811): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0006 | a0006c0056 | a0006c0056t0001 | a0006c0056t0001g0036 | 1 | 282 | 0.0036 | 818 | c.299 others(833): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
| POLG_chr15_89311320_89339824 | 89325131 | A | AGTGAGTG others(811): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0259 | 1 | 398 | 0.0025 | 818 | c.194 others(835): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(811): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0173 | 1 | 220 | 0.0046 | 818 | c.24+ others(835): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(811): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0059 | 1 | 304 | 0.0033 | 818 | c.347 others(833): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(811): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01496.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0135a0001c0001t0001g0186others(8): Show | 12 | 308 | 0.0390 | 818 | c.-75 others(837): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(811): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 308 | 0.0033 | 818 | c.-75 others(837): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(811): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18986.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0027 | 3 | 308 | 0.0097 | 818 | c.-75 others(837): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RUSC2_chr9_35485111_35566895 | 35495159 | T | TTTTATAT others(811): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 322 | 0.0031 | 818 | c.-93 others(835): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(811): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0000 | a0000c0014 | a0000c0014t0001 | a0000c0014t0001g0098 | 1 | 203 | 0.0049 | 818 | c.-12 others(837): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1284177 | T | TTGGGTGA others(811): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 290 | 0.0035 | 818 | c.464 others(831): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(811): Show |
intron_variant | MODIFIER | HG02300.hp2 NA18975.hp1 NA18978.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0013t0002 | a0001c0001t0002g0047a0001c0001t0002g0064a0001c0013t0002g0057 | 3 | 324 | 0.0093 | 818 | c.115 others(835): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(811): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG03098.hp2 |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0171a0004c0006t0002g0172a0004c0006t0002g0173 | 3 | 370 | 0.0081 | 818 | c.284 others(837): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(811): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 256 | 0.0039 | 818 | c.165 others(835): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SPIRE2_chr16_89823475_89876319 | 89852310 | T | TGGCCCAT others(811): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 356 | 0.0028 | 818 | c.645 others(835): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAACTC others(811): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0011 | a0003c0011t0030 | a0003c0011t0030g0139 | 1 | 352 | 0.0028 | 818 | c.299 others(835): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2377604 | T | TCTCCCCT others(811): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 114 | 0.0088 | 818 | c.-25 others(837): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2377604 | T | TCTCCCCT others(811): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0084 | 1 | 114 | 0.0088 | 818 | c.-25 others(837): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2419018 | C | CCCTTCCC others(811): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0017 | a0017c0018 | a0017c0018t0002 | a0017c0018t0002g0001 | 1 | 114 | 0.0088 | 818 | c.215 others(835): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TRAF6_chr11_36478769_36515272 | 36507379 | T | TACGTATA others(811): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0256 | 1 | 388 | 0.0026 | 818 | c.-23 others(835): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(811): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 338 | 0.0030 | 818 | c.*35 others(837): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238871159 | C | CCCCACAC others(811): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 338 | 0.0030 | 818 | c.*35 others(837): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(811): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0227 | 1 | 238 | 0.0042 | 818 | c.392 others(835): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar |