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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARFGEF1_chr8_67192658_67348781 | 67244337 | GATCTCAC others(5370): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp2 HG01978.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0007t0001 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 others(11): Show |
14 | 206 | 0.0680 | -5377 | c.285 others(19): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 19/38 | chr8 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77308816 | AAAATTAG others(5368): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0280 a0001c0001t0007g0281 |
2 | 282 | 0.0071 | -5375 | c.699 others(19): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KRTAP2-1_chr17_41041541_41052316 | 41046943 | AGCAGGGG others(5366): Show |
A | frameshift_variant others(1): Show |
HIGH | HG02622.hp2 HG02630.hp2 HG04204.hp2 |
a0002 | a0002c0003 | a0002c0003t0009a0002c0003t0015 | a0002c0003t0009g0000 a0002c0003t0015g0000 |
3 | 406 | 0.0074 | -5373 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 1/1 | 373/776 | 1/387 | 1/128 | chr17 | TogoVar | |||
ELAPOR2_chr7_86871906_87064654 | 87005268 | GGCACATA others(5364): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 194 | 0.0052 | -5371 | c.190 others(19): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1371109 | TGGATCTC others(5355): Show |
T | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 113 | 0.0088 | -5362 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MRGPRG_chr11_3212944_3223813 | 3217508 | CCCACCTA others(5341): Show |
C | transcript_ablation | HIGH | HG00735.hp2 HG00741.hp1 HG01109.hp1 others(6): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 9 | 424 | 0.0212 | -5348 | c.-40 others(10): Show |
p.0? | MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771511 | TCCTCCTC others(5341): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 158 | 0.0063 | -5348 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | CGCAGGGG others(5336): Show |
C | frameshift_variant others(1): Show |
HIGH | HG01256.hp1 HG01258.hp1 |
a0007 | a0007c0008 | a0007c0008t0005 | a0007c0008t0005g0000 | 2 | 67 | 0.0299 | -5343 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 1/372 | 1/123 | chr17 | TogoVar | |||
NBDY_chrX_56724243_56824179 | 56771516 | CTCCTCCT others(5335): Show |
C | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 158 | 0.0063 | -5342 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | chrX | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771517 | TCCTCCTC others(5335): Show |
T | intron_variant | MODIFIER | NA18939.hp1 NA18950.hp1 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 a0001c0001t0002g0076 a0001c0001t0002g0083 |
3 | 158 | 0.0190 | -5342 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MCEE_chr2_71104687_71135229 | 71115413 | GCACTAGC others(5334): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01167.hp2 HG01243.hp2 others(24): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0002 | a0001c0001t0002g0007 a0001c0001t0002g0150 a0001c0001t0002g0151 others(11): Show |
27 | 416 | 0.0649 | -5341 | c.378 others(17): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771520 | TCCTCCTC others(5332): Show |
T | intron_variant | MODIFIER | NA18971.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 a0001c0001t0002g0107 |
2 | 156 | 0.0128 | -5339 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TBL1X_chrX_9460058_9724740 | 9585810 | TATGTCCA others(5331): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0079 | 1 | 197 | 0.0051 | -5338 | c.-13 others(21): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KRTAP9-6_chr17_41260378_41270860 | 41265523 | AGCCTTAC others(5330): Show |
A | frameshift_variant others(2): Show |
HIGH | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 248 | 0.0040 | -5337 | c.147 others(9): Show |
p.Gln others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 147/483 | 147/483 | 49/160 | chr17 | TogoVar | |||
KRT33A_chr17_41341092_41355828 | 41350492 | TGACCGCT others(5329): Show |
T | start_lost others(1): Show |
HIGH | HG02145.hp1 HG02258.hp1 HG02280.hp2 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0006 | 10 | 448 | 0.0223 | -5336 | c.-50 others(9): Show |
p.Met others(10): Show |
KRT33A | ENSG00000006059.4 | transcript | ENST00000007735.4 | protein_coding | 1/7 | 336/1303 | 1/1215 | 1/404 | chr17 | TogoVar | |||
NBDY_chrX_56724243_56824179 | 56771526 | TCCTTTTC others(5326): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0010 | 1 | 154 | 0.0065 | -5333 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771537 | TTCTTCTT others(5320): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 154 | 0.0065 | -5327 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UGT2A1_chr4_69583417_69658247 | 69601758 | CTAGAGGA others(5319): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00609.hp2 others(96): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(89): Show |
99 | 374 | 0.2647 | -5326 | c.848 others(17): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 3/6 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69601758 | CTAGAGGA others(5319): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00609.hp2 others(98): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 others(76): Show |
101 | 376 | 0.2686 | -5326 | c.743 others(17): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
LY96_chr8_73986392_74034079 | 73986612 | GCTGGACT others(5317): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG02615.hp1 HG02896.hp2 HG02897.hp2 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0011 a0004c0003t0003g0012 a0004c0003t0003g0013 |
3 | 312 | 0.0096 | -5324 | c.-48 others(13): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771538 | TCTTCTTT others(5314): Show |
T | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 158 | 0.0063 | -5321 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771541 | TCTTTTTC others(5311): Show |
T | intron_variant | MODIFIER | HG01256.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 a0001c0001t0002g0108 |
2 | 158 | 0.0127 | -5318 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771539 | CTTCTTTT others(5308): Show |
C | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 158 | 0.0063 | -5315 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
WWOX_chr16_78094654_79217667 | 78243714 | GTTTTGTA others(5305): Show |
G | intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0077 | 1 | 142 | 0.0070 | -5312 | c.516 others(19): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OR13C5_chr9_104593457_104604413 | 104599104 | TGAGGAAC others(5302): Show |
T | start_lost others(1): Show |
HIGH | NA18968.hp1 NA18981.hp2 NA18991.hp1 |
a0011 | a0011c0009 | a0011c0009t0001 | a0011c0009t0001g0000 | 3 | 415 | 0.0072 | -5309 | c.-50 others(9): Show |
p.Met others(11): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 309/957 | 1/957 | 1/318 | chr9 | TogoVar | |||
KYNU_chr2_142872664_143060833 | 142937688 | AGCCCAGC others(5299): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 330 | 0.0030 | -5306 | c.373 others(18): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
NRG3_chr10_81870194_82992178 | 82952492 | TGTGTGTG others(5299): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 | 1 | 66 | 0.0152 | -5306 | c.115 others(18): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2276991 | AAGAGAGA others(5298): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042 | 1 | 47 | 0.0213 | -5305 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277038 | GGGAGAGA others(5298): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 | 1 | 48 | 0.0208 | -5305 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130582248 | AGGATTCC others(5289): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 324 | 0.0031 | -5296 | c.738 others(19): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2624047 | GTTCCTGT others(5286): Show |
G | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 206 | 0.0049 | -5293 | c.139 others(21): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | chr11 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174827418 | ACTGGAGG others(5281): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp1 others(46): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0006c0006others(1): Show | a0001c0001t0004a0001c0001t0013a0001c0001t0018others(6): Show | a0001c0001t0004g0038 a0001c0001t0004g0223 a0001c0001t0004g0224 others(46): Show |
49 | 272 | 0.1801 | -5288 | c.234 others(21): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZSWIM5_chr1_45011399_45211605 | 45152425 | AATATGAT others(5276): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 232 | 0.0043 | -5283 | c.595 others(19): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ARHGEF38_chr4_105547620_105685914 | 105656685 | ATTATAGG others(5274): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02004.hp1 | a0007 | a0007c0014 | a0007c0014t0005 | a0007c0014t0005g0005 | 1 | 184 | 0.0054 | -5281 | c.123 others(18): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34199214 | TGATGGTG others(5273): Show |
T | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 244 | 0.0041 | -5280 | c.103 others(17): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 2/16 | chr11 | TogoVar | |||||||
CDH13_chr16_82621969_83805640 | 82654390 | AGCATATA others(5271): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0011 | a0001c0011t0035 | a0001c0011t0035g0013 | 1 | 110 | 0.0091 | -5278 | c.45+ others(17): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18751453 | GGTGAACA others(5271): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0006 | a0006c0012 | a0006c0012t0010 | a0006c0012t0010g0187 | 1 | 226 | 0.0044 | -5278 | c.217 others(20): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39582393 | GGTGGCTT others(5270): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0300 | 1 | 342 | 0.0029 | -5277 | c.76- others(16): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SLC22A2_chr6_160211755_160263821 | 160228650 | TTGTCAGG others(5268): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 HG02970.hp2 others(4): Show |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0006 | 7 | 308 | 0.0227 | -5275 | c.150 others(19): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20559129 | TGTTCCAG others(5264): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0008 | 1 | 228 | 0.0044 | -5271 | c.272 others(19): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRADD_chr12_93672375_93855756 | 93803646 | ACTTCCAG others(5261): Show |
A | intron_variant | MODIFIER | NA18981.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0238 a0001c0001t0003g0007 |
2 | 246 | 0.0081 | -5268 | c.299 others(19): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3CA_chr3_179143357_179245093 | 179160828 | TAGACTCT others(5259): Show |
T | intron_variant | MODIFIER | NA18999.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0193 a0001c0001t0013g0192 |
2 | 280 | 0.0071 | -5266 | c.-77 others(19): Show |
PIK3CA | ENSG00000121879.6 | transcript | ENST00000263967.4 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
KRTAP9-6_chr17_41260378_41270860 | 41265595 | CCAGCTGC others(5258): Show |
C | frameshift_variant others(2): Show |
HIGH | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 248 | 0.0040 | -5265 | c.219 others(9): Show |
p.Thr others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 219/483 | 219/483 | 73/160 | chr17 | TogoVar | |||
SCD5_chr4_82624539_82803796 | 82714853 | CTGAACCC others(5255): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02055.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011 | a0001c0001t0002g0059 a0001c0001t0002g0097 a0001c0001t0003g0078 others(1): Show |
4 | 208 | 0.0192 | -5262 | c.233 others(18): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
CGB3_chr19_49017869_49029333 | 49024080 | CTCGGGGG others(5246): Show |
C | 5_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0047 | 1 | 385 | 0.0026 | -5253 | c.-53 others(10): Show |
CGB3 | ENSG00000104827.12 | transcript | ENST00000357383.4 | protein_coding | 1/3 | 110 | chr19 | TogoVar | ||||||
GOLGA8B_chr15_34520095_34588651 | 34556034 | CCCCACGC others(5243): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00735.hp2 others(22): Show |
a0003a0005a0006others(5): Show | a0003c0003a0005c0007a0006c0006others(5): Show | a0003c0003t0003a0003c0003t0019a0003c0003t0020others(9): Show | a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0074 others(21): Show |
25 | 196 | 0.1276 | -5250 | c.-11 others(21): Show |
GOLGA8B | ENSG00000215252.12 | transcript | ENST00000683415.1 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
INO80D_chr2_205988721_206091174 | 206065220 | CAGCACTT others(5243): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0009 | 1 | 332 | 0.0030 | -5250 | c.-12 others(19): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
OR13C2_chr9_104599671_104610627 | 104605385 | CGTGGAGG others(5235): Show |
C | frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | -5242 | c.-50 others(9): Show |
p.Met others(3): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 242/957 | 1/957 | 1/318 | chr9 | TogoVar | |||
FFAR3_chr19_35353460_35365489 | 35360248 | GGGTCTGA others(5234): Show |
G | splice_region_variant | LOW | HG00323.hp2 HG00597.hp1 HG00597.hp2 others(27): Show |
a0001a0005a0015 | a0001c0001a0001c0021a0005c0006others(1): Show | a0001c0001t0004a0001c0021t0004a0005c0006t0004others(1): Show | a0001c0001t0004g0001 a0001c0021t0004g0001 a0005c0006t0004g0001 others(1): Show |
30 | 414 | 0.0725 | -5241 | c.*31 others(10): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130070052 | ACAGAAAA others(5233): Show |
A | intron_variant | MODIFIER | NA19054.hp2 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0066 | 1 | 276 | 0.0036 | -5240 | c.108 others(23): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |